#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA10	10349	genome.wustl.edu	37	17	67149465	67149465	+	Missense_Mutation	SNP	C	C	T	rs201375015		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:67149465C>T	ENST00000269081.4	-	35	5026	c.4117G>A	c.(4117-4119)Gag>Aag	p.E1373K	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1373	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGCTGCCCCTCGGGGTCCATC	0.478																																																	0								C	LYS/GLU	0,4406		0,0,2203	94.0	98.0	96.0		4117	-1.1	0.0	17		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA10	NM_080282.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1373/1544	67149465	1,13005	2203	4300	6503	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4117G>A	17.37:g.67149465C>T	ENSP00000269081:p.Glu1373Lys		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1373K	ENST00000269081.4	37	c.4117	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.200317	0.00296	0.0	1.16E-4	ENSG00000154263	ENST00000269081	D	0.96365	-3.99	3.34	-1.12	0.09808	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	D	0.85177	0.5637	N	0.04297	-0.235	0.09310	N	0.999999	B;B	0.32968	0.019;0.392	B;B	0.21708	0.007;0.036	T	0.77710	-0.2486	9	0.07482	T	0.82	.	9.0366	0.36291	0.0:0.3999:0.0:0.6001	.	365;1373	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	K	1373	ENSP00000269081:E1373K	ENSP00000269081:E1373K	E	-	1	0	ABCA10	64661060	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.373000	0.20484	-0.460000	0.07003	-1.012000	0.02466	GAG	ABCA10	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.478	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	C	NM_080282		67149465	-1	no_errors	ENST00000269081	ensembl	human	known	70_37	missense	SNP	0.001	T
AOC1	26	genome.wustl.edu	37	7	150557683	150557683	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:150557683G>C	ENST00000493429.1	+	6	2535	c.1951G>C	c.(1951-1953)Gag>Cag	p.E651Q	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.E670Q|AOC1_ENST00000360937.4_Missense_Mutation_p.E651Q|AOC1_ENST00000467291.1_Missense_Mutation_p.E651Q			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	651					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CGTGGTCTTTGAGCAGTTTCT	0.612																																																	0													119.0	132.0	128.0					7																	150557683		2079	4223	6302	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1951G>C	7.37:g.150557683G>C	ENSP00000418614:p.Glu651Gln		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.E670Q	ENST00000493429.1	37	c.2008	CCDS43679.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.743|9.743	1.165331|1.165331	0.21538|0.21538	.|.	.|.	ENSG00000002726|ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714|ENST00000487631	T;T;T;T|.	0.03745|.	3.82;3.82;3.82;3.82|.	5.05|5.05	4.15|4.15	0.48705|0.48705	Copper amine oxidase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57548|0.57548	0.2061|0.2061	L|L	0.58428|0.58428	1.81|1.81	0.52099|0.52099	D|D	0.99994|0.99994	B;B|.	0.28350|.	0.044;0.208|.	B;B|.	0.29942|.	0.04;0.109|.	T|T	0.51458|0.51458	-0.8703|-0.8703	10|6	0.26408|0.07990	T|T	0.33|0.79	-40.7188|-40.7188	13.0489|13.0489	0.58944|0.58944	0.0:0.1633:0.8367:0.0|0.0:0.1633:0.8367:0.0	.|.	670;651|.	C9J690;P19801|.	.;ABP1_HUMAN|.	Q|F	651;651;651;670;527|175	ENSP00000418614:E651Q;ENSP00000418328:E651Q;ENSP00000354193:E651Q;ENSP00000411613:E670Q|.	ENSP00000354193:E651Q|ENSP00000417051:L175F	E|L	+|+	1|3	0|2	ABP1|ABP1	150188616|150188616	0.998000|0.998000	0.40836|0.40836	0.973000|0.973000	0.42090|0.42090	0.210000|0.210000	0.24377|0.24377	4.285000|4.285000	0.58989|0.58989	1.090000|1.090000	0.41315|0.41315	0.491000|0.491000	0.48974|0.48974	GAG|TTG	ABP1	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C		0.612	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABP1	HGNC	protein_coding	OTTHUMT00000350628.1	G	NM_001091		150557683	+1	no_errors	ENST00000416793	ensembl	human	known	70_37	missense	SNP	1.000	C
ACAN	176	genome.wustl.edu	37	15	89381937	89381937	+	Silent	SNP	G	G	A	rs367956651		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:89381937G>A	ENST00000561243.1	+	2	114	c.114G>A	c.(112-114)ccG>ccA	p.P38P	ACAN_ENST00000558207.1_Silent_p.P38P|ACAN_ENST00000559004.1_Silent_p.P38P|ACAN_ENST00000439576.2_Silent_p.P38P|ACAN_ENST00000352105.7_Silent_p.P38P			P16112	PGCA_HUMAN	aggrecan	38	Ig-like V-type.				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)			AACCGTCCCCGCTGAGGGTCC	0.622																																																	0								A	,	3,4007		0,3,2002	107.0	117.0	114.0		114,114	-9.9	0.0	15		114	0,8328		0,0,4164	no	coding-synonymous,coding-synonymous	ACAN	NM_001135.3,NM_013227.3	,	0,3,6166	AA,AG,GG		0.0,0.0748,0.0243	,	38/2432,38/2531	89381937	3,12335	2005	4164	6169	SO:0001819	synonymous_variant	176			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.114G>A	15.37:g.89381937G>A			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.P38	ENST00000561243.1	37	c.114	CCDS53970.1	15																																																																																			ACAN	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.622	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	G	NM_001135		89381937	+1	no_errors	ENST00000439576	ensembl	human	known	70_37	silent	SNP	0.000	A
ADAMTS13	11093	genome.wustl.edu	37	9	136308556	136308556	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:136308556G>A	ENST00000371929.3	+	19	2738	c.2294G>A	c.(2293-2295)cGg>cAg	p.R765Q	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R734Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R765Q|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	765	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTGCGGGAGCGGCCAGTGCGC	0.721																																																	0													9.0	10.0	10.0					9																	136308556		2165	4251	6416	SO:0001583	missense	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2294G>A	9.37:g.136308556G>A	ENSP00000360997:p.Arg765Gln		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R765Q	ENST00000371929.3	37	c.2294	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004843	0.54254	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.80738	-1.41;-1.15;-1.15	4.74	2.9	0.33743	.	.	.	.	.	D	0.88514	0.6457	M	0.91510	3.215	0.19945	N	0.999945	D;D;D	0.76494	0.988;0.999;0.999	P;P;P	0.62885	0.716;0.888;0.908	T	0.77822	-0.2445	9	0.56958	D	0.05	.	4.3164	0.10995	0.1927:0.0:0.6278:0.1795	.	765;734;765	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	Q	765;765;734	ENSP00000360997:R765Q;ENSP00000347927:R765Q;ENSP00000348997:R734Q	ENSP00000347927:R765Q	R	+	2	0	ADAMTS13	135298377	0.009000	0.17119	0.002000	0.10522	0.556000	0.35491	1.017000	0.29989	0.448000	0.26722	0.455000	0.32223	CGG	ADAMTS13	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.721	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	G	NM_139025		136308556	+1	no_errors	ENST00000371929	ensembl	human	known	70_37	missense	SNP	0.008	A
AFF3	3899	genome.wustl.edu	37	2	100343566	100343566	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:100343566C>T	ENST00000409236.2	-	9	1176	c.1064G>A	c.(1063-1065)aGt>aAt	p.S355N	AFF3_ENST00000356421.2_Missense_Mutation_p.S380N|AFF3_ENST00000317233.4_Missense_Mutation_p.S355N|AFF3_ENST00000409579.1_Missense_Mutation_p.S380N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	355					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACTGTCTGGACTCTCTGGCTC	0.343																																																	0													81.0	80.0	81.0					2																	100343566		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1064G>A	2.37:g.100343566C>T	ENSP00000387207:p.Ser355Asn		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S380N	ENST00000409236.2	37	c.1139	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924628	0.34002	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.26	5.26	0.73747	.	0.201610	0.35772	N	0.002998	T	0.51381	0.1671	L	0.27053	0.805	0.32599	N	0.526126	B;B;B;B	0.33171	0.4;0.208;0.043;0.093	B;B;B;B	0.40534	0.332;0.068;0.026;0.015	T	0.61267	-0.7097	10	0.35671	T	0.21	.	8.8711	0.35316	0.0:0.7681:0.1512:0.0807	.	509;509;355;380	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	N	355;380;380;355;355;509;380	ENSP00000317421:S355N;ENSP00000348793:S380N;ENSP00000386834:S380N;ENSP00000387207:S355N	ENSP00000317421:S355N	S	-	2	0	AFF3	99709998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.138000	0.31491	2.455000	0.83008	0.655000	0.94253	AGT	AFF3	-	pfam_TF_AF4/FMR2		0.343	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	C	NM_002285		100343566	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	1.000	T
AHCTF1	25909	genome.wustl.edu	37	1	247063409	247063409	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:247063409G>C	ENST00000391829.2	-	10	1513	c.1390C>G	c.(1390-1392)Cca>Gca	p.P464A	AHCTF1_ENST00000326225.3_Missense_Mutation_p.P473A|AHCTF1_ENST00000366508.1_Missense_Mutation_p.P499A|AHCTF1_ENST00000470300.1_5'Flank			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	464	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCGGGAGGTGGATATGAAGGA	0.363																																					Colon(145;197 1800 4745 15099 26333)												0													97.0	114.0	108.0					1																	247063409		2200	4295	6495	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1390C>G	1.37:g.247063409G>C	ENSP00000375705:p.Pro464Ala		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.P473A	ENST00000391829.2	37	c.1417		1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236802	0.79800	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.33438	1.41;1.41;1.41	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	L	0.34521	1.04	0.80722	D	1	P;D	0.58970	0.944;0.984	P;P	0.53450	0.646;0.726	T	0.32161	-0.9917	10	0.72032	D	0.01	-14.4725	18.1406	0.89638	0.0:0.0:1.0:0.0	.	499;464	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	A	499;473;464	ENSP00000355464:P499A;ENSP00000355465:P473A;ENSP00000375705:P464A	ENSP00000355465:P473A	P	-	1	0	AHCTF1	245130032	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.591000	0.82666	2.343000	0.79666	0.462000	0.41574	CCA	AHCTF1	-	NULL		0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		G	NM_015446		247063409	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	1.000	C
AHNAK2	113146	genome.wustl.edu	37	14	105411033	105411033	+	Silent	SNP	C	C	T	rs370843314		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr14:105411033C>T	ENST00000333244.5	-	7	10874	c.10755G>A	c.(10753-10755)ctG>ctA	p.L3585L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3585						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)			TGGGGCCTTTCAGGTCCAGCT	0.602																																																	0													101.0	111.0	108.0					14																	105411033		1886	4108	5994	SO:0001819	synonymous_variant	113146			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.10755G>A	14.37:g.105411033C>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L3585	ENST00000333244.5	37	c.10755	CCDS45177.1	14																																																																																			AHNAK2	-	NULL		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105411033	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	silent	SNP	0.008	T
AKAP4	8852	genome.wustl.edu	37	X	49957835	49957835	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:49957835T>A	ENST00000376056.2	-	5	1652	c.1502A>T	c.(1501-1503)cAa>cTa	p.Q501L	AKAP4_ENST00000358526.2_Missense_Mutation_p.Q510L|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q501L|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCCTTGCTTTTGGTTCCAGAT	0.453																																																	0													218.0	189.0	199.0					X																	49957835		2203	4300	6503	SO:0001583	missense	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1502A>T	X.37:g.49957835T>A	ENSP00000365224:p.Gln501Leu			Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.Q510L	ENST00000376056.2	37	c.1529	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674434	0.47781	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.07688	3.17;3.17;3.17	4.93	4.93	0.64822	A-kinase anchor 110kDa, C-terminal (1);	0.127211	0.34750	N	0.003704	T	0.22205	0.0535	L	0.60455	1.87	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.00544	-1.1679	9	.	.	.	-12.2698	10.0346	0.42120	0.0:0.0:0.0:1.0	.	510	Q5JQC9	AKAP4_HUMAN	L	501;510;501	ENSP00000365224:Q501L;ENSP00000351327:Q510L;ENSP00000365232:Q501L	.	Q	-	2	0	AKAP4	49844575	1.000000	0.71417	0.999000	0.59377	0.740000	0.42216	4.487000	0.60293	1.634000	0.50500	0.427000	0.28365	CAA	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110		0.453	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	T	NM_003886		49957835	-1	no_errors	ENST00000358526	ensembl	human	known	70_37	missense	SNP	1.000	A
ANKH	56172	genome.wustl.edu	37	5	14741993	14741993	+	Silent	SNP	T	T	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:14741993T>G	ENST00000284268.6	-	8	1284	c.954A>C	c.(952-954)acA>acC	p.T318T	ANKH_ENST00000535119.1_Silent_p.T120T|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	318					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGCCGTGACTGTGTTGCTCG	0.537																																																	0													168.0	128.0	142.0					5																	14741993		2203	4300	6503	SO:0001819	synonymous_variant	56172			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.954A>C	5.37:g.14741993T>G			B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	pfam_ANKH	p.T318	ENST00000284268.6	37	c.954	CCDS3885.1	5																																																																																			ANKH	-	pfam_ANKH		0.537	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKH	HGNC	protein_coding	OTTHUMT00000207063.1	T	NM_054027		14741993	-1	no_errors	ENST00000284268	ensembl	human	known	70_37	silent	SNP	0.733	G
ANKRD10	55608	genome.wustl.edu	37	13	111552900	111552900	+	Intron	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr13:111552900G>A	ENST00000267339.2	-	3	590				ANKRD10_ENST00000375758.5_Intron|ANKRD10_ENST00000310847.4_Intron|ANKRD10-IT1_ENST00000426991.1_RNA|ANKRD10_ENST00000489973.2_Intron	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10											central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CTCGTGTGCAGAAAGGAAGCG	0.428																																																	0																																										SO:0001627	intron_variant	55608			AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.455+5479C>T	13.37:g.111552900G>A			Q5VW12|Q9BV12	RNA	SNP	-	NULL	ENST00000267339.2	37	NULL	CCDS9520.1	13																																																																																			ANKRD10	-	-		0.428	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD10	HGNC	protein_coding	OTTHUMT00000045783.1	G			111552900	-1	no_errors	ENST00000475809	ensembl	human	known	70_37	rna	SNP	1.000	A
ANKRD11	29123	genome.wustl.edu	37	16	89349405	89349405	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:89349405C>T	ENST00000301030.4	-	9	4005	c.3545G>A	c.(3544-3546)aGa>aAa	p.R1182K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1182K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1182	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTCCTGTCTCTGGGCTCCTT	0.542																																																	0													69.0	76.0	74.0					16																	89349405		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3545G>A	16.37:g.89349405C>T	ENSP00000301030:p.Arg1182Lys		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R1182K	ENST00000301030.4	37	c.3545	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.869557	0.00547	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.25085	1.82;1.82	4.8	-4.41	0.03590	.	0.505367	0.17693	N	0.165213	T	0.06690	0.0171	N	0.01874	-0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.02654	T	1	.	11.9173	0.52774	0.0:0.5223:0.0:0.4777	.	1182	Q6UB99	ANR11_HUMAN	K	1182	ENSP00000301030:R1182K;ENSP00000367581:R1182K	ENSP00000301030:R1182K	R	-	2	0	ANKRD11	87876906	0.989000	0.36119	0.000000	0.03702	0.002000	0.02628	2.165000	0.42396	-1.074000	0.03132	-1.149000	0.01842	AGA	ANKRD11	-	NULL		0.542	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	C	NM_013275		89349405	-1	no_errors	ENST00000301030	ensembl	human	known	70_37	missense	SNP	0.023	T
ANKRD30B	374860	genome.wustl.edu	37	18	14851937	14851937	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:14851937G>A	ENST00000358984.4	+	36	3817	c.3637G>A	c.(3637-3639)Gga>Aga	p.G1213R		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1213										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TCCTTTGCAAGGAATAATGAA	0.378																																																	0													44.0	33.0	36.0					18																	14851937		692	1590	2282	SO:0001583	missense	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3637G>A	18.37:g.14851937G>A	ENSP00000351875:p.Gly1213Arg		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G1213R	ENST00000358984.4	37	c.3637	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	G	1.695	-0.502905	0.04261	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.14640	2.49	1.39	1.39	0.22231	.	.	.	.	.	T	0.09113	0.0225	N	0.19112	0.55	0.80722	D	1	P;D	0.58268	0.91;0.982	B;P	0.44623	0.198;0.455	T	0.31138	-0.9954	9	0.32370	T	0.25	.	8.7313	0.34501	0.0:0.0:1.0:0.0	.	1298;1213	Q9BXX2;F8WAG3	AN30B_HUMAN;.	R	1213;607;633	ENSP00000351875:G1213R	ENSP00000277669:G633R	G	+	1	0	ANKRD30B	14841937	1.000000	0.71417	0.423000	0.26634	0.042000	0.13812	3.713000	0.54882	1.076000	0.40961	0.173000	0.16961	GGA	ANKRD30B	-	NULL		0.378	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	G	NM_001145029		14851937	+1	no_errors	ENST00000358984	ensembl	human	known	70_37	missense	SNP	0.991	A
ANTXR1	84168	genome.wustl.edu	37	2	69304566	69304567	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:69304566_69304567TC>AT	ENST00000303714.4	+	8	910_911	c.588_589TC>AT	c.(586-591)gaTCat>gaATat	p.196_197DH>EY	ANTXR1_ENST00000409349.3_Missense_Mutation_p.196_197DH>EY|ANTXR1_ENST00000409829.3_Missense_Mutation_p.196_197DH>EY	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	196	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACAGTAAGGATCATGTGTTTCC	0.49									Familial Infantile Hemangioma																																								0																																										SO:0001583	missense	84168	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	Exception_encountered	2.37:g.69304566_69304567delinsAT	ENSP00000301945:p.D196_H197delinsEY		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D196E|p.H197Y	ENST00000303714.4	37	c.588|c.589	CCDS1892.1	2																																																																																			ANTXR1	-	pirsf_Anthrax_toxin_rcpt,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.490	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANTXR1	HGNC	protein_coding	OTTHUMT00000251770.2	T|C	NM_032208		69304566|69304567	+1	no_errors	ENST00000303714	ensembl	human	known	70_37	missense	SNP	0.663|0.950	A|T
AP4B1	10717	genome.wustl.edu	37	1	114438007	114438007	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:114438007T>A	ENST00000369569.1	-	10	2180	c.1900A>T	c.(1900-1902)Act>Tct	p.T634S	AP4B1_ENST00000369567.1_Missense_Mutation_p.T466S|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.T634S|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	634					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAAGCCAAGTTTTCTCAAAA	0.483																																																	0													93.0	97.0	96.0					1																	114438007		2203	4300	6503	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1900A>T	1.37:g.114438007T>A	ENSP00000358582:p.Thr634Ser		B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.T634S	ENST00000369569.1	37	c.1900	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333703	0.41297	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.63417	-0.04;-0.03;-0.03	5.83	4.64	0.57946	Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.304708	0.34652	N	0.003796	T	0.29491	0.0735	N	0.17082	0.46	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.17722	0.011;0.019	T	0.22556	-1.0213	10	0.44086	T	0.13	.	10.6792	0.45804	0.1423:0.0:0.0:0.8577	.	466;634	B1ALD0;Q9Y6B7	.;AP4B1_HUMAN	S	466;634;634	ENSP00000358580:T466S;ENSP00000358582:T634S;ENSP00000256658:T634S	ENSP00000256658:T634S	T	-	1	0	AP4B1	114239530	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.106000	0.50322	2.226000	0.72624	0.460000	0.39030	ACT	AP4B1	-	pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4		0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	T	NM_006594		114438007	-1	no_errors	ENST00000256658	ensembl	human	known	70_37	missense	SNP	1.000	A
AP4B1	10717	genome.wustl.edu	37	1	114447340	114447340	+	5'UTR	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:114447340C>G	ENST00000369569.1	-	0	280				AP4B1_ENST00000369567.1_5'UTR|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369566.3_5'UTR|AP4B1_ENST00000256658.4_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTACGGCATCTTCCTAAGAG	0.547																																																	0													161.0	144.0	150.0					1																	114447340		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.-1G>C	1.37:g.114447340C>G			B7Z4X3|Q59EJ4|Q96CL6	RNA	SNP	-	NULL	ENST00000369569.1	37	NULL	CCDS865.1	1																																																																																			AP4B1	-	-		0.547	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	C	NM_006594		114447340	-1	no_errors	ENST00000484201	ensembl	human	known	70_37	rna	SNP	0.066	G
APLF	200558	genome.wustl.edu	37	2	68753297	68753297	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:68753297G>A	ENST00000303795.4	+	6	898	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	243					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AGGAAGTTCAGAAAATACATC	0.363																																																	0													108.0	111.0	110.0					2																	68753297		2203	4300	6503	SO:0001583	missense	200558			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.727G>A	2.37:g.68753297G>A	ENSP00000307004:p.Glu243Lys		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.E243K	ENST00000303795.4	37	c.727	CCDS1888.1	2	.	.	.	.	.	.	.	.	.	.	g	12.57	1.978160	0.34942	.	.	ENSG00000169621	ENST00000303795	T	0.25085	1.82	4.61	0.0228	0.14134	.	0.916352	0.09504	N	0.793238	T	0.18718	0.0449	L	0.45137	1.4	0.19775	N	0.999953	B;B	0.27316	0.175;0.003	B;B	0.23716	0.048;0.004	T	0.30966	-0.9960	10	0.22706	T	0.39	.	6.9147	0.24354	0.505:0.0:0.495:0.0	.	243;243	F8WET0;Q8IW19	.;APLF_HUMAN	K	243	ENSP00000307004:E243K	ENSP00000307004:E243K	E	+	1	0	APLF	68606801	0.999000	0.42202	0.694000	0.30210	0.844000	0.47949	0.354000	0.20146	-0.104000	0.12154	0.585000	0.79938	GAA	APLF	-	NULL		0.363	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	HGNC	protein_coding	OTTHUMT00000251759.1	G	NM_173545		68753297	+1	no_errors	ENST00000303795	ensembl	human	known	70_37	missense	SNP	0.921	A
APOL1	8542	genome.wustl.edu	37	22	36661428	36661428	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:36661428C>T	ENST00000397278.3	+	6	775	c.546C>T	c.(544-546)ctC>ctT	p.L182L	APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000319136.4_Silent_p.L198L|APOL1_ENST00000397279.4_Silent_p.L182L|APOL1_ENST00000426053.1_Silent_p.L164L|APOL1_ENST00000347595.7_Silent_p.L61L|APOL1_ENST00000422706.1_Silent_p.L182L	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	182					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTGGCTCTCTCAGCATTTCCT	0.562																																																	0													156.0	140.0	146.0					22																	36661428		2203	4300	6503	SO:0001819	synonymous_variant	8542			AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.546C>T	22.37:g.36661428C>T			A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Silent	SNP	pfam_ApoL	p.L198	ENST00000397278.3	37	c.594	CCDS13926.1	22																																																																																			APOL1	-	pfam_ApoL		0.562	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL1	HGNC	protein_coding	OTTHUMT00000319100.4	C	NM_145343		36661428	+1	no_errors	ENST00000319136	ensembl	human	known	70_37	silent	SNP	0.000	T
ARAP3	64411	genome.wustl.edu	37	5	141036112	141036112	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:141036112G>C	ENST00000239440.4	-	27	3813	c.3748C>G	c.(3748-3750)Ctg>Gtg	p.L1250V	ARAP3_ENST00000513878.1_Missense_Mutation_p.L912V|ARAP3_ENST00000508305.1_Missense_Mutation_p.L1081V|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1250	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCACGCAGCAGAAAGAACCTC	0.637																																																	0													22.0	23.0	23.0					5																	141036112		2203	4300	6503	SO:0001583	missense	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3748C>G	5.37:g.141036112G>C	ENSP00000239440:p.Leu1250Val		B4DIT1|D3DQE3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.L1250V	ENST00000239440.4	37	c.3748	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	G	7.214	0.595968	0.13875	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.06068	3.35;3.35;3.35	5.64	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.230789	0.37761	N	0.001953	T	0.01800	0.0057	N	0.00926	-1.1	0.35571	D	0.805495	B;B;B	0.25169	0.005;0.119;0.029	B;B;B	0.20184	0.005;0.028;0.01	T	0.33879	-0.9851	10	0.02654	T	1	.	8.9794	0.35955	0.0826:0.2632:0.6542:0.0	.	912;1081;1250	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	1081;1250;912	ENSP00000421826:L1081V;ENSP00000239440:L1250V;ENSP00000421468:L912V	ENSP00000239440:L1250V	L	-	1	2	ARAP3	141016296	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	2.226000	0.42963	1.385000	0.46445	0.591000	0.81541	CTG	ARAP3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.637	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	G	NM_022481		141036112	-1	no_errors	ENST00000239440	ensembl	human	known	70_37	missense	SNP	1.000	C
ARHGEF12	23365	genome.wustl.edu	37	11	120300164	120300164	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:120300164G>A	ENST00000397843.2	+	9	767	c.601G>A	c.(601-603)Gtt>Att	p.V201I	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.V98I|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.V182I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	201					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)		AAACAATGTGGTTCATAACCA	0.323			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													63.0	63.0	63.0					11																	120300164		1801	4061	5862	SO:0001583	missense	23365			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.601G>A	11.37:g.120300164G>A	ENSP00000380942:p.Val201Ile		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.V182I	ENST00000397843.2	37	c.544	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712033	0.68730	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.48836	0.8;0.8;0.8	5.87	5.87	0.94306	.	0.000000	0.41823	D	0.000806	T	0.58366	0.2117	M	0.61703	1.905	0.45307	D	0.998307	P;P;P	0.45569	0.861;0.86;0.793	B;P;B	0.47915	0.297;0.561;0.269	T	0.58284	-0.7663	10	0.59425	D	0.04	-18.1788	20.5827	0.99408	0.0:0.0:1.0:0.0	.	98;182;201	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	I	201;182;98	ENSP00000380942:V201I;ENSP00000349056:V182I;ENSP00000432984:V98I	ENSP00000349056:V182I	V	+	1	0	ARHGEF12	119805374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.693000	0.74582	2.941000	0.99782	0.655000	0.94253	GTT	ARHGEF12	-	NULL		0.323	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	G	NM_015313		120300164	+1	no_errors	ENST00000356641	ensembl	human	known	70_37	missense	SNP	1.000	A
ARPP21	10777	genome.wustl.edu	37	3	35785442	35785442	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:35785442G>A	ENST00000187397.4	+	18	2473	c.2017G>A	c.(2017-2019)Gca>Aca	p.A673T	ARPP21_ENST00000444190.1_Missense_Mutation_p.A654T|MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000417925.1_Missense_Mutation_p.A674T|ARPP21_ENST00000337271.5_Missense_Mutation_p.A654T|ARPP21_ENST00000458225.1_Missense_Mutation_p.A674T	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	673	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GATGCCACAGGCAGCACAGCA	0.498																																																	0													110.0	105.0	106.0					3																	35785442		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2017G>A	3.37:g.35785442G>A	ENSP00000187397:p.Ala673Thr		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.A674T	ENST00000187397.4	37	c.2020	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	8.601	0.886806	0.17540	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.82	-0.585	0.11698	.	0.740897	0.13512	N	0.382382	T	0.27559	0.0677	N	0.11201	0.11	0.09310	N	0.999994	B;B;B;B	0.10296	0.001;0.003;0.0;0.0	B;B;B;B	0.11329	0.002;0.006;0.001;0.002	T	0.14671	-1.0464	10	0.39692	T	0.17	-0.1411	12.2766	0.54739	0.4771:0.0:0.5229:0.0	.	674;196;673;654	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	T	674;654;654;673;674	ENSP00000414351:A674T;ENSP00000337792:A654T;ENSP00000405276:A654T;ENSP00000187397:A673T;ENSP00000412326:A674T	ENSP00000187397:A673T	A	+	1	0	ARPP21	35760446	0.135000	0.22499	0.023000	0.16930	0.923000	0.55619	-0.050000	0.11904	-0.457000	0.07033	0.655000	0.94253	GCA	ARPP21	-	NULL		0.498	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	G	NM_198399		35785442	+1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	0.147	A
ASB10	136371	genome.wustl.edu	37	7	150884266	150884267	+	5'Flank	INS	-	-	AG	rs34383739|rs372716545|rs552723672|rs397758299	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:150884266_150884267insAG	ENST00000420175.2	-	0	0				ASB10_ENST00000377867.3_Intron|ASB10_ENST00000275838.1_5'UTR|ASB10_ENST00000422024.1_Frame_Shift_Ins_p.L29fs|ASB10_ENST00000434669.1_Frame_Shift_Ins_p.L29fs			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGCCAAAGGCagagagagaga	0.594														980	0.195687	0.2179	0.2637	5008	,	,		19197	0.0813		0.2435	False		,,,				2504	0.1861																0																																										SO:0001631	upstream_gene_variant	136371			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013		7.37:g.150884275_150884276dupAG	Exception_encountered		A0AVH0|Q6ZUL6	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.P30fs	ENST00000420175.2	37	c.87_86	CCDS47750.2	7																																																																																			ASB10	-	NULL		0.594	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	-	NM_080871		150884267	-1	no_errors	ENST00000422024	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.003	AG
ASTN1	460	genome.wustl.edu	37	1	176918332	176918332	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:176918332G>A	ENST00000367654.3	-	12	2278	c.2067C>T	c.(2065-2067)ctC>ctT	p.L689L	ASTN1_ENST00000367657.3_Silent_p.L681L|ASTN1_ENST00000424564.2_Silent_p.L681L|ASTN1_ENST00000361833.2_Silent_p.L681L|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	689	EGF-like 3.				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						CACAGAACATGAGGATGTTAT	0.582											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86.0	84.0	85.0					1																	176918332		2203	4300	6503	SO:0001819	synonymous_variant	460			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.2067C>T	1.37:g.176918332G>A		1934	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.L689	ENST00000367654.3	37	c.2067		1																																																																																			ASTN1	-	smart_EG-like_dom		0.582	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		G	NM_004319		176918332	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	silent	SNP	1.000	A
ATP10B	23120	genome.wustl.edu	37	5	160114820	160114820	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:160114820C>G	ENST00000327245.5	-	5	1108	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	88					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAAATTGCTCAAAGAGATTC	0.463																																																	0													158.0	161.0	160.0					5																	160114820		1914	4122	6036	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.262G>C	5.37:g.160114820C>G	ENSP00000313600:p.Glu88Gln		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E88Q	ENST00000327245.5	37	c.262	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162524	0.57368	.	.	ENSG00000118322	ENST00000327245	D	0.85955	-2.05	5.37	5.37	0.77165	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.068288	0.64402	D	0.000017	D	0.89125	0.6626	M	0.73753	2.245	0.48452	D	0.999653	P;D;D	0.59767	0.745;0.974;0.986	B;P;P	0.56398	0.42;0.797;0.541	D	0.88950	0.3386	9	.	.	.	.	11.5084	0.50481	0.0:0.9095:0.0:0.0904	.	132;88;88	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	Q	88	ENSP00000313600:E88Q	.	E	-	1	0	ATP10B	160047398	0.996000	0.38824	0.992000	0.48379	0.305000	0.27757	1.818000	0.39012	2.519000	0.84933	0.467000	0.42956	GAG	ATP10B	-	tigrfam_ATPase_P-typ_Plipid-transl		0.463	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160114820	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	0.998	G
ATP2B2	491	genome.wustl.edu	37	3	10370260	10370260	+	3'UTR	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:10370260C>A	ENST00000352432.4	-	0	4039				ATP2B2_ENST00000397077.1_3'UTR|ATP2B2_ENST00000360273.2_3'UTR|ATP2B2_ENST00000383800.4_3'UTR|ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000343816.4_3'UTR|MIR378B_ENST00000578876.1_RNA			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2						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						AAACCGCTCACTCCCGTAAGC	0.577																																					Ovarian(125;1619 1709 15675 19819 38835)												0																																										SO:0001624	3_prime_UTR_variant	491			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.*238G>T	3.37:g.10370260C>A			O00766|Q12994|Q16818	RNA	SNP	-	NULL	ENST00000352432.4	37	NULL	CCDS33701.1	3																																																																																			ATP2B2	-	-		0.577	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	C	NM_001683		10370260	-1	no_errors	ENST00000467702	ensembl	human	known	70_37	rna	SNP	0.852	A
B3GNT5	84002	genome.wustl.edu	37	3	182988037	182988037	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:182988037C>G	ENST00000326505.3	+	2	981	c.451C>G	c.(451-453)Caa>Gaa	p.Q151E	B3GNT5_ENST00000460419.1_Missense_Mutation_p.Q151E|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.Q151E|MCF2L2_ENST00000473233.1_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	151					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTGGGAAGATCAAAGGTACAA	0.393																																																	0													56.0	53.0	54.0					3																	182988037		2203	4300	6503	SO:0001583	missense	84002			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.451C>G	3.37:g.182988037C>G	ENSP00000316173:p.Gln151Glu		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	pfam_Glyco_trans_31,superfamily_Luciferase-like_dom	p.Q151E	ENST00000326505.3	37	c.451	CCDS3244.1	3	.	.	.	.	.	.	.	.	.	.	C	2.920	-0.223435	0.06061	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.39997	1.05;1.05;1.05	5.91	-0.939	0.10408	.	0.660669	0.15099	N	0.280621	T	0.26412	0.0645	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24368	-1.0162	10	0.17832	T	0.49	.	11.1768	0.48603	0.3743:0.2612:0.3645:0.0	.	151	Q9BYG0	B3GN5_HUMAN	E	151	ENSP00000316173:Q151E;ENSP00000420778:Q151E;ENSP00000417868:Q151E	ENSP00000316173:Q151E	Q	+	1	0	B3GNT5	184470731	0.000000	0.05858	0.025000	0.17156	0.018000	0.09664	-0.824000	0.04438	0.088000	0.17205	0.650000	0.86243	CAA	B3GNT5	-	pfam_Glyco_trans_31		0.393	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT5	HGNC	protein_coding	OTTHUMT00000351009.1	C	NM_032047		182988037	+1	no_errors	ENST00000326505	ensembl	human	known	70_37	missense	SNP	0.001	G
BAI2	576	genome.wustl.edu	37	1	32202035	32202035	+	Intron	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:32202035A>G	ENST00000373658.3	-	22	3472				BAI2_ENST00000527361.1_Intron|BAI2_ENST00000440175.2_Intron|BAI2_ENST00000373655.2_Intron|BAI2_ENST00000398542.1_Intron|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Intron|BAI2_ENST00000398547.1_Intron|BAI2_ENST00000398556.3_Intron|BAI2_ENST00000257070.4_Intron	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTGGTCTTCAGGGACCCCTT	0.632																																																	0													59.0	58.0	58.0					1																	32202035		2203	4300	6503	SO:0001627	intron_variant	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3131-44T>C	1.37:g.32202035A>G			B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	RNA	SNP	-	NULL	ENST00000373658.3	37	NULL	CCDS346.2	1																																																																																			BAI2	-	-		0.632	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	A	NM_001703		32202035	-1	no_errors	ENST00000465256	ensembl	human	known	70_37	rna	SNP	0.001	G
BAZ1B	9031	genome.wustl.edu	37	7	72856672	72856672	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:72856672G>C	ENST00000339594.4	-	19	4644	c.4306C>G	c.(4306-4308)Cta>Gta	p.L1436V	BAZ1B_ENST00000404251.1_Missense_Mutation_p.L1436V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1436					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGAGCCACTAGACACTGTTCT	0.493																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													142.0	127.0	132.0					7																	72856672		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4306C>G	7.37:g.72856672G>C	ENSP00000342434:p.Leu1436Val		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L1436V	ENST00000339594.4	37	c.4306	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105091	0.37145	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.18810	2.19;2.19	5.54	5.54	0.83059	Bromodomain (3);	0.196883	0.45126	D	0.000399	T	0.12220	0.0297	L	0.27053	0.805	0.33330	D	0.568392	P	0.34662	0.462	B	0.22386	0.039	T	0.16247	-1.0409	10	0.37606	T	0.19	-14.129	9.4421	0.38675	0.0777:0.1447:0.7776:0.0	.	1436	Q9UIG0	BAZ1B_HUMAN	V	1436	ENSP00000342434:L1436V;ENSP00000385442:L1436V	ENSP00000342434:L1436V	L	-	1	2	BAZ1B	72494608	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.070000	0.50033	2.591000	0.87537	0.643000	0.83706	CTA	BAZ1B	-	superfamily_Bromodomain,smart_Bromodomain		0.493	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	G	NM_032408		72856672	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	missense	SNP	0.995	C
BRIP1	83990	genome.wustl.edu	37	17	59760977	59760977	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:59760977C>T	ENST00000259008.2	-	20	3697	c.3430G>A	c.(3430-3432)Gaa>Aaa	p.E1144K		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1144					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTTTTTCTTCATCTGTATCT	0.308			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													63.0	64.0	64.0					17																	59760977		2203	4299	6502	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3430G>A	17.37:g.59760977C>T	ENSP00000259008:p.Glu1144Lys		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.E1144K	ENST00000259008.2	37	c.3430	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232420	0.39498	.	.	ENSG00000136492	ENST00000259008	T	0.78595	-1.19	5.6	3.6	0.41247	.	0.306848	0.28072	N	0.016705	T	0.64549	0.2608	L	0.32530	0.975	0.80722	D	1	B	0.18310	0.027	B	0.15052	0.012	T	0.58222	-0.7674	9	.	.	.	-15.3796	10.4338	0.44424	0.0:0.8373:0.0:0.1627	.	1144	Q9BX63	FANCJ_HUMAN	K	1144	ENSP00000259008:E1144K	.	E	-	1	0	BRIP1	57115759	1.000000	0.71417	0.982000	0.44146	0.474000	0.32979	1.646000	0.37249	1.504000	0.48704	0.563000	0.77884	GAA	BRIP1	-	NULL		0.308	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	C	NM_032043		59760977	-1	no_errors	ENST00000259008	ensembl	human	known	70_37	missense	SNP	0.967	T
BSDC1	55108	genome.wustl.edu	37	1	32834008	32834008	+	Intron	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:32834008C>A	ENST00000455895.2	-	10	1294				BSDC1_ENST00000463967.1_5'UTR|BSDC1_ENST00000413080.1_Intron|BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000341071.7_Missense_Mutation_p.G451C|BSDC1_ENST00000446293.2_Intron	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1											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)				CACCCAGGACCATTAGGCTCG	0.617																																																	0													77.0	66.0	70.0					1																	32834008		2203	4300	6503	SO:0001627	intron_variant	55108			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.1260+39G>T	1.37:g.32834008C>A			B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.G451C	ENST00000455895.2	37	c.1351	CCDS363.2	1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747347	0.49257	.	.	ENSG00000160058	ENST00000341071	.	.	.	5.04	0.791	0.18619	.	0.823890	0.10178	N	0.706258	T	0.30823	0.0777	.	.	.	0.09310	N	1	P	0.44816	0.844	B	0.43331	0.416	T	0.20107	-1.0285	8	0.87932	D	0	.	5.378	0.16176	0.0:0.5948:0.1484:0.2568	.	451	Q9NW68-3	.	C	451	.	ENSP00000344816:G451C	G	-	1	0	BSDC1	32606595	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.126000	0.15769	0.370000	0.24538	-0.145000	0.13849	GGT	BSDC1	-	NULL		0.617	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	C	NM_018045		32834008	-1	no_errors	ENST00000341071	ensembl	human	known	70_37	missense	SNP	0.000	A
BTBD18	643376	genome.wustl.edu	37	11	57512268	57512268	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:57512268C>T	ENST00000436147.3	-	2	1664	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	TMX2-CTNND1_ENST00000528395.1_Intron|BTBD18_ENST00000422652.1_Missense_Mutation_p.E493K|RP11-691N7.6_ENST00000531074.1_Intron			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18	493										endometrium(3)|kidney(1)	4						TCCTCCAGCTCACTGGTGGCA	0.562																																																	0													88.0	74.0	78.0					11																	57512268		692	1591	2283	SO:0001583	missense	643376				CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203	ENST00000436147.3:c.1477G>A	11.37:g.57512268C>T	ENSP00000397020:p.Glu493Lys			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E493K	ENST00000436147.3	37	c.1477	CCDS44603.1	11	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260086	0.80246	.	.	ENSG00000233436	ENST00000422652;ENST00000436147	D;D	0.83837	-1.77;-1.77	5.53	5.53	0.82687	.	.	.	.	.	D	0.86343	0.5910	L	0.27053	0.805	0.29610	N	0.847028	D	0.89917	1.0	D	0.80764	0.994	T	0.82589	-0.0382	9	0.87932	D	0	.	16.4959	0.84246	0.0:1.0:0.0:0.0	.	493	B2RXH4	BTBDI_HUMAN	K	493	ENSP00000394472:E493K;ENSP00000397020:E493K	ENSP00000394472:E493K	E	-	1	0	BTBD18	57268844	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	3.783000	0.55409	2.879000	0.98667	0.650000	0.86243	GAG	BTBD18	-	NULL		0.562	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD18	HGNC	protein_coding	OTTHUMT00000393718.2	C	NM_001145101		57512268	-1	no_errors	ENST00000422652	ensembl	human	known	70_37	missense	SNP	1.000	T
BTBD8	284697	genome.wustl.edu	37	1	92613279	92613279	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:92613279G>T	ENST00000342818.3	+	9	1294	c.1058G>T	c.(1057-1059)aGa>aTa	p.R353I	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	353						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TGGTCTGAGAGAAGCTTTGCA	0.313																																																	0													111.0	113.0	112.0					1																	92613279		2202	4300	6502	SO:0001583	missense	284697			AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.1058G>T	1.37:g.92613279G>T	ENSP00000343686:p.Arg353Ile		Q6V9S5	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R353I	ENST00000342818.3	37	c.1058	CCDS737.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004778	0.74932	.	.	ENSG00000189195	ENST00000342818	T	0.66280	-0.2	5.14	4.22	0.49857	.	0.102039	0.43260	D	0.000585	T	0.53786	0.1818	M	0.63843	1.955	0.80722	D	1	D	0.56521	0.976	P	0.49853	0.624	T	0.61476	-0.7055	10	0.72032	D	0.01	-9.2148	9.588	0.39528	0.1699:0.0:0.8301:0.0	.	353	Q5XKL5	BTBD8_HUMAN	I	353	ENSP00000343686:R353I	ENSP00000343686:R353I	R	+	2	0	BTBD8	92385867	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.290000	0.51755	1.302000	0.44855	0.563000	0.77884	AGA	BTBD8	-	NULL		0.313	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD8	HGNC	protein_coding	OTTHUMT00000028372.1	G	NM_183242		92613279	+1	no_errors	ENST00000342818	ensembl	human	known	70_37	missense	SNP	1.000	T
BTD	686	genome.wustl.edu	37	3	15686759	15686759	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:15686759C>G	ENST00000303498.5	+	4	1505	c.1396C>G	c.(1396-1398)Ctt>Gtt	p.L466V	BTD_ENST00000437172.1_Missense_Mutation_p.L468V|BTD_ENST00000449107.1_Missense_Mutation_p.L468V|BTD_ENST00000383778.4_Missense_Mutation_p.L446V	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	466					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)	p.L466V(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GTGTGGGGGTCTTGGCTTCGA	0.502																																																	1	Substitution - Missense(1)	breast(1)											100.0	103.0	102.0					3																	15686759		2203	4300	6503	SO:0001583	missense	686			AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1396C>G	3.37:g.15686759C>G	ENSP00000306477:p.Leu466Val		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.L466V	ENST00000303498.5	37	c.1396	CCDS2628.1	3	.	.	.	.	.	.	.	.	.	.	C	8.224	0.803053	0.16397	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.58	3.76	0.43208	.	0.960141	0.08721	N	0.903431	D	0.83482	0.5264	M	0.65975	2.015	0.09310	N	1	B;B;B	0.31485	0.325;0.325;0.325	B;B;B	0.23852	0.049;0.049;0.049	T	0.68796	-0.5314	10	0.30078	T	0.28	-44.0565	7.34	0.26632	0.1283:0.6807:0.1236:0.0673	.	468;468;466	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	V	468;466;468;446	ENSP00000388212:L468V;ENSP00000306477:L466V;ENSP00000400995:L468V;ENSP00000373288:L446V	ENSP00000306477:L466V	L	+	1	0	BTD	15661763	0.000000	0.05858	0.019000	0.16419	0.964000	0.63967	1.261000	0.32980	0.697000	0.31718	0.561000	0.74099	CTT	BTD	-	pirsf_Biotinidase_euk		0.502	BTD-001	KNOWN	basic|CCDS	protein_coding	BTD	HGNC	protein_coding	OTTHUMT00000252103.2	C	NM_000060		15686759	+1	no_errors	ENST00000303498	ensembl	human	known	70_37	missense	SNP	0.000	G
C12orf40	283461	genome.wustl.edu	37	12	40076812	40076812	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:40076812G>C	ENST00000324616.5	+	8	1240	c.1086G>C	c.(1084-1086)ttG>ttC	p.L362F	C12orf40_ENST00000398716.1_Missense_Mutation_p.L285F|C12orf40_ENST00000405531.3_Missense_Mutation_p.L362F	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	362										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATTCGACTTTGAATAAAACAA	0.318																																																	0													43.0	40.0	41.0					12																	40076812		1825	4072	5897	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1086G>C	12.37:g.40076812G>C	ENSP00000317671:p.Leu362Phe		B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.L362F	ENST00000324616.5	37	c.1086	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.952874	0.00470	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.45668	0.89;0.9	5.26	2.86	0.33363	.	0.880500	0.09864	N	0.745848	T	0.18341	0.0440	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29518	-1.0009	10	0.14252	T	0.57	.	6.9313	0.24444	0.1435:0.0:0.1636:0.6928	.	362	Q86WS4	CL040_HUMAN	F	362;285;362	ENSP00000383897:L362F;ENSP00000317671:L362F	ENSP00000317671:L362F	L	+	3	2	C12orf40	38363079	0.001000	0.12720	0.002000	0.10522	0.533000	0.34776	0.421000	0.21280	0.497000	0.27926	-0.467000	0.05162	TTG	C12orf40	-	NULL		0.318	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	G	NM_173599		40076812	+1	no_errors	ENST00000324616	ensembl	human	known	70_37	missense	SNP	0.003	C
C14orf159	80017	genome.wustl.edu	37	14	91634013	91634013	+	Intron	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr14:91634013G>A	ENST00000523771.1	+	4	860				C14orf159_ENST00000521077.2_Intron|C14orf159_ENST00000518665.2_Missense_Mutation_p.R153K|C14orf159_ENST00000520328.1_Intron|C14orf159_ENST00000412671.2_Intron|C14orf159_ENST00000523816.1_Intron|C14orf159_ENST00000518868.1_Intron|C14orf159_ENST00000256324.10_Intron|C14orf159_ENST00000428926.2_Intron|C14orf159_ENST00000519019.1_3'UTR|C14orf159_ENST00000525393.2_Intron|C14orf159_ENST00000298858.4_Missense_Mutation_p.R153K|C14orf159_ENST00000522322.1_Intron			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159							mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GCCCAAGCCAGAAACCCGCCT	0.483																																																	0																																										SO:0001627	intron_variant	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.257+291G>A	14.37:g.91634013G>A			B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	NULL	p.R153K	ENST00000523771.1	37	c.458	CCDS32141.1	14	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627348	0.46944	.	.	ENSG00000133943	ENST00000298858;ENST00000518665	T;T	0.53857	0.6;0.6	3.67	3.67	0.42095	.	.	.	.	.	T	0.68026	0.2956	.	.	.	0.39209	D	0.963289	D	0.71674	0.998	D	0.65987	0.94	T	0.73421	-0.3988	8	0.87932	D	0	.	11.1694	0.48563	0.0:0.0:1.0:0.0	.	153	Q7Z3D6-6	.	K	153	ENSP00000298858:R153K;ENSP00000429098:R153K	ENSP00000298858:R153K	R	+	2	0	C14orf159	90703766	0.628000	0.27138	0.049000	0.19019	0.105000	0.19272	3.242000	0.51384	2.347000	0.79759	0.462000	0.41574	AGA	C14orf159	-	NULL		0.483	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf159	HGNC	protein_coding	OTTHUMT00000381273.1	G	NM_024952		91634013	+1	no_errors	ENST00000298858	ensembl	human	known	70_37	missense	SNP	0.056	A
PRR29	92340	genome.wustl.edu	37	17	62078827	62078827	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:62078827G>A	ENST00000412177.1	+	5	485	c.471G>A	c.(469-471)gtG>gtA	p.V157V	C17orf72_ENST00000582540.1_Splice_Site_p.V106V|C17orf72_ENST00000579184.1_Splice_Site_p.V150V|RP11-214C8.2_ENST00000580942.1_lincRNA|C17orf72_ENST00000539996.1_Splice_Site_p.V107V|C17orf72_ENST00000425164.3_Intron|ICAM2_ENST00000581417.1_5'Flank|C17orf72_ENST00000577953.1_Splice_Site_p.E82K|C17orf72_ENST00000580752.1_Splice_Site_p.E21K	NM_001164257.1|NM_001191030.1	NP_001157729.1|NP_001177959.1	P0C7W0	PRR29_HUMAN		157	Pro-rich.																CCCATCTCAGGAGAGCTGTGC	0.657																																																	0													18.0	22.0	21.0					17																	62078827		692	1591	2283	SO:0001630	splice_region_variant	92340																														ENST00000412177.1:c.471-1G>A	17.37:g.62078827G>A			B3KMP0|B4DZJ9|B4E2F8|E9PGL5|J3QKX4	Missense_Mutation	SNP	NULL	p.E82K	ENST00000412177.1	37	c.244	CCDS54158.1	17	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450054	0.26074	.	.	ENSG00000224383	ENST00000225760	.	.	.	4.38	-0.157	0.13387	.	.	.	.	.	T	0.43722	0.1260	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24440	-1.0160	4	.	.	.	.	3.7283	0.08482	0.2959:0.0:0.5335:0.1706	.	.	.	.	K	82	.	.	E	+	1	0	C17orf72	59432559	1.000000	0.71417	0.976000	0.42696	0.652000	0.38707	0.342000	0.19926	0.113000	0.18004	-0.324000	0.08512	GAG	C17orf72	-	NULL		0.657	C17orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf72	HGNC	protein_coding	OTTHUMT00000442613.1	G		Silent	62078827	+1	no_errors	ENST00000577953	ensembl	human	known	70_37	missense	SNP	0.988	A
C1orf112	55732	genome.wustl.edu	37	1	169798460	169798460	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:169798460C>G	ENST00000286031.6	+	13	1884	c.1184C>G	c.(1183-1185)tCt>tGt	p.S395C	C1orf112_ENST00000413811.2_Missense_Mutation_p.L323V|C1orf112_ENST00000359326.4_Missense_Mutation_p.S395C|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	395										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTGAACTCTCTCTACCTGTT	0.393																																																	0													173.0	167.0	169.0					1																	169798460		2203	4300	6503	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1184C>G	1.37:g.169798460C>G	ENSP00000286031:p.Ser395Cys		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.S395C	ENST00000286031.6	37	c.1184	CCDS1285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.414739|4.414739	0.83449|0.83449	.|.	.|.	ENSG00000000460|ENSG00000000460	ENST00000413811|ENST00000359326;ENST00000286031	.|T;T	.|0.48522	.|0.81;0.81	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.389526	.|0.30630	.|N	.|0.009215	T|T	0.57740|0.57740	0.2074|0.2074	M|M	0.72118|0.72118	2.19|2.19	0.24449|0.24449	N|N	0.994492|0.994492	P|D;D	0.44627|0.69078	0.839|0.997;0.997	P|P;P	0.46110|0.62298	0.504|0.9;0.891	T|T	0.56529|0.56529	-0.7964|-0.7964	8|10	0.87932|0.72032	D|D	0|0.01	-20.9947|-20.9947	17.5078|17.5078	0.87750|0.87750	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	323|337;395	B4E0A9|B4DGF2;Q9NSG2	.|.;CA112_HUMAN	V|C	323|395	.|ENSP00000352276:S395C;ENSP00000286031:S395C	ENSP00000389257:L323V|ENSP00000286031:S395C	L|S	+|+	1|2	0|0	C1orf112|C1orf112	168065084|168065084	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.041000|4.041000	0.57339|0.57339	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	CTC|TCT	C1orf112	-	NULL		0.393	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	C	NM_018186		169798460	+1	no_errors	ENST00000286031	ensembl	human	known	70_37	missense	SNP	1.000	G
NOL4L	140688	genome.wustl.edu	37	20	31035550	31035550	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:31035550C>G	ENST00000359676.5	-	8	1302	c.1160G>C	c.(1159-1161)aGc>aCc	p.S387T	RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		387						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						ggtgctggtgctggagggggt	0.692																																																	0													18.0	20.0	19.0					20																	31035550		2202	4296	6498	SO:0001583	missense	140688																														ENST00000359676.5:c.1160G>C	20.37:g.31035550C>G	ENSP00000352704:p.Ser387Thr		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	NULL	p.S387T	ENST00000359676.5	37	c.1160	CCDS13202.1	20	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475258	0.26511	.	.	ENSG00000197183	ENST00000359676	.	.	.	4.87	3.92	0.45320	.	1.005240	0.07989	N	0.986841	T	0.44561	0.1299	L	0.38175	1.15	0.80722	D	1	B	0.15473	0.013	B	0.14023	0.01	T	0.26883	-1.0090	9	0.14656	T	0.56	-14.393	6.3152	0.21186	0.0:0.7476:0.0:0.2524	.	387	Q96MY1	CT112_HUMAN	T	387	.	ENSP00000352704:S387T	S	-	2	0	C20orf112	30499211	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	0.891000	0.28309	1.406000	0.46857	0.561000	0.74099	AGC	C20orf112	-	NULL		0.692	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2	C			31035550	-1	no_errors	ENST00000359676	ensembl	human	known	70_37	missense	SNP	1.000	G
C8orf34	116328	genome.wustl.edu	37	8	69699708	69699708	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:69699708C>T	ENST00000539993.1	+	12	1777	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	C8orf34_ENST00000325233.3_Missense_Mutation_p.H154Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.H496Y|C8orf34_ENST00000337103.4_Missense_Mutation_p.H385Y			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	410										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GCAGGTAGTTCATCAACCATG	0.343																																																	0													119.0	110.0	113.0					8																	69699708		2202	4300	6502	SO:0001583	missense	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1228C>T	8.37:g.69699708C>T	ENSP00000438159:p.His410Tyr		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.H496Y	ENST00000539993.1	37	c.1486		8	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172800	0.57584	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.50813	0.74;0.79;0.79;0.73	5.36	5.36	0.76844	.	0.301640	0.33092	N	0.005299	T	0.53222	0.1783	N	0.19112	0.55	0.36977	D	0.89411	D	0.61080	0.989	D	0.72982	0.979	T	0.55885	-0.8070	9	.	.	.	-16.7872	16.3753	0.83383	0.0:1.0:0.0:0.0	.	410	Q49A92	CH034_HUMAN	Y	496;410;385;154	ENSP00000427820:H496Y;ENSP00000438159:H410Y;ENSP00000337174:H385Y;ENSP00000319532:H154Y	.	H	+	1	0	C8orf34	69862262	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	4.716000	0.61916	2.657000	0.90304	0.655000	0.94253	CAT	C8orf34	-	NULL		0.343	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding		C	NM_052958		69699708	+1	no_errors	ENST00000518698	ensembl	human	known	70_37	missense	SNP	1.000	T
CACNA1E	777	genome.wustl.edu	37	1	181701777	181701777	+	Missense_Mutation	SNP	G	G	A	rs538192254	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:181701777G>A	ENST00000367573.2	+	20	2555	c.2555G>A	c.(2554-2556)cGt>cAt	p.R852H	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R784H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R803H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R852H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R833H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R459H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R833H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	852					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCATCAGCCGTGGGGGGTCC	0.687													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16438	0.001		0.0	False		,,,				2504	0.0																0													11.0	14.0	13.0					1																	181701777		1878	4080	5958	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2555G>A	1.37:g.181701777G>A	ENSP00000356545:p.Arg852His		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R852H	ENST00000367573.2	37	c.2555	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626092	0.66901	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96716	-4.0;-3.96;-4.0;-3.96;-4.1;-3.96;-4.0	4.14	4.14	0.48551	.	2.677650	0.00829	N	0.001658	D	0.92828	0.7719	N	0.08118	0	0.28914	N	0.892512	P;D;P	0.56287	0.871;0.975;0.871	B;P;B	0.45232	0.386;0.474;0.386	D	0.87061	0.2153	10	0.45353	T	0.12	.	12.188	0.54250	0.0:0.1731:0.8269:0.0	.	833;852;852	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	852;833;803;784;459;833;852	ENSP00000356542:R852H;ENSP00000434814:R833H;ENSP00000350183:R803H;ENSP00000351101:R784H;ENSP00000356539:R459H;ENSP00000353222:R833H;ENSP00000356545:R852H	ENSP00000350183:R803H	R	+	2	0	CACNA1E	179968400	0.193000	0.23313	0.986000	0.45419	0.934000	0.57294	2.687000	0.46976	2.596000	0.87737	0.561000	0.74099	CGT	CACNA1E	-	NULL		0.687	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	G	NM_000721		181701777	+1	no_errors	ENST00000367573	ensembl	human	known	70_37	missense	SNP	0.966	A
CACNA1G	8913	genome.wustl.edu	37	17	48653074	48653074	+	Silent	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:48653074C>G	ENST00000359106.5	+	8	1311	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	CACNA1G_ENST00000515765.1_Silent_p.L437L|CACNA1G_ENST00000515165.1_Silent_p.L437L|CACNA1G_ENST00000510366.1_Silent_p.L437L|CACNA1G_ENST00000416767.4_Silent_p.L437L|CACNA1G_ENST00000352832.5_Silent_p.L437L|CACNA1G_ENST00000513689.2_Silent_p.L437L|CACNA1G_ENST00000507609.1_Silent_p.L437L|CACNA1G_ENST00000514181.1_Silent_p.L437L|CACNA1G_ENST00000512389.1_Silent_p.L437L|CACNA1G_ENST00000354983.4_Silent_p.L437L|CACNA1G_ENST00000358244.5_Silent_p.L437L|CACNA1G_ENST00000442258.2_Silent_p.L437L|CACNA1G_ENST00000513964.1_Silent_p.L437L|CACNA1G_ENST00000429973.2_Silent_p.L437L|CACNA1G_ENST00000507896.1_Silent_p.L437L|CACNA1G_ENST00000514079.1_Silent_p.L437L|CACNA1G_ENST00000514717.1_Silent_p.L437L|CACNA1G_ENST00000510115.1_Silent_p.L437L|CACNA1G_ENST00000507510.2_Silent_p.L437L|CACNA1G_ENST00000502264.1_Silent_p.L437L|CACNA1G_ENST00000515411.1_Silent_p.L437L|CACNA1G_ENST00000507336.1_Silent_p.L437L|CACNA1G_ENST00000360761.4_Silent_p.L437L|CACNA1G_ENST00000505165.1_Silent_p.L437L|CACNA1G_ENST00000503485.1_Silent_p.L437L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	437					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGAGCTGCTCAAGTACCTGG	0.647																																																	0													19.0	22.0	21.0					17																	48653074		2089	4218	6307	SO:0001819	synonymous_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1311C>G	17.37:g.48653074C>G			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L437	ENST00000359106.5	37	c.1311	CCDS45730.1	17																																																																																			CACNA1G	-	prints_VDCC_T_a1su		0.647	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	C	NM_018896		48653074	+1	no_errors	ENST00000359106	ensembl	human	known	70_37	silent	SNP	1.000	G
CADPS	8618	genome.wustl.edu	37	3	62518688	62518688	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:62518688C>T	ENST00000383710.4	-	13	2498	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T	CADPS_ENST00000283269.9_Missense_Mutation_p.A717T|CADPS_ENST00000357948.3_Missense_Mutation_p.A700T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	717					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCATTTCGGGCGCAATACTCG	0.488																																																	0													87.0	81.0	83.0					3																	62518688		2203	4300	6503	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2149G>A	3.37:g.62518688C>T	ENSP00000373215:p.Ala717Thr		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A717T	ENST00000383710.4	37	c.2149	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.608955|5.608955	0.96637|0.96637	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000491424	T;T;T|.	0.35048|.	1.33;1.33;1.33|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75925|0.75925	0.3916|0.3916	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.998;0.999;1.0;1.0|.	D;D;D;D|.	0.77557|.	0.927;0.988;0.99;0.956|.	T|T	0.73056|0.73056	-0.4103|-0.4103	10|5	0.51188|.	T|.	0.08|.	.|.	19.9894|19.9894	0.97361|0.97361	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	700;717;717;717|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	T|H	717;717;700;717|23	ENSP00000373215:A717T;ENSP00000350632:A700T;ENSP00000283269:A717T|.	ENSP00000283269:A717T|.	A|R	-|-	1|2	0|0	CADPS|CADPS	62493728|62493728	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.908000|0.908000	0.53690|0.53690	7.818000|7.818000	0.86416|0.86416	2.728000|2.728000	0.93425|0.93425	0.557000|0.557000	0.71058|0.71058	GCC|CGC	CADPS	-	NULL		0.488	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62518688	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	missense	SNP	1.000	T
CADM2	253559	genome.wustl.edu	37	3	85008741	85008741	+	5'UTR	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:85008741C>A	ENST00000407528.2	+	0	45				CADM2_ENST00000383699.3_5'UTR|CADM2_ENST00000485126.1_3'UTR	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2						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)		CCTTCCCCAGCCCTTTAGAGA	0.657																																																	0													86.0	103.0	98.0					3																	85008741		692	1591	2283	SO:0001623	5_prime_UTR_variant	253559			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.-18C>A	3.37:g.85008741C>A			G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	RNA	SNP	-	NULL	ENST00000407528.2	37	NULL	CCDS54614.1	3																																																																																			CADM2	-	-		0.657	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1	C	NM_153184		85008741	+1	no_errors	ENST00000473523	ensembl	human	known	70_37	rna	SNP	0.124	A
CAMK2A	815	genome.wustl.edu	37	5	149652711	149652711	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:149652711G>A	ENST00000348628.6	-	2	739	c.74C>T	c.(73-75)tCg>tTg	p.S25L	CAMK2A_ENST00000398376.3_Missense_Mutation_p.S25L	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	25	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)	p.S25L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCACCACCGAGAAGGCTCC	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											84.0	89.0	87.0					5																	149652711		2203	4300	6503	SO:0001583	missense	815			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.74C>T	5.37:g.149652711G>A	ENSP00000261793:p.Ser25Leu		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S25L	ENST00000348628.6	37	c.74	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.609942	0.96637	.	.	ENSG00000070808	ENST00000348628;ENST00000398376;ENST00000510347	T;T;T	0.26957	1.7;1.7;1.7	5.94	5.94	0.96194	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	0.000004	T	0.63486	0.2515	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.71251	-0.4648	10	0.87932	D	0	.	19.1308	0.93406	0.0:0.0:1.0:0.0	.	25;25;25	Q9UQM7-2;Q9UQM7;A8K161	.;KCC2A_HUMAN;.	L	25	ENSP00000261793:S25L;ENSP00000381412:S25L;ENSP00000426607:S25L	ENSP00000261793:S25L	S	-	2	0	CAMK2A	149632904	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	9.370000	0.97159	2.816000	0.96949	0.563000	0.77884	TCG	CAMK2A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.567	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	G	NM_015981		149652711	-1	no_errors	ENST00000398376	ensembl	human	known	70_37	missense	SNP	1.000	A
CASD1	64921	genome.wustl.edu	37	7	94139496	94139496	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:94139496G>T	ENST00000297273.4	+	1	387	c.100G>T	c.(100-102)Gca>Tca	p.A34S		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	34						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCTGCTGCTCGCAGCGTGCCA	0.731																																																	0													29.0	22.0	25.0					7																	94139496		1749	3235	4984	SO:0001583	missense	64921			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.100G>T	7.37:g.94139496G>T	ENSP00000297273:p.Ala34Ser		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.A34S	ENST00000297273.4	37	c.100	CCDS5636.1	7	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695292	0.30052	.	.	ENSG00000127995	ENST00000297273	T	0.44083	0.93	3.17	1.24	0.21308	Cyclin-like (1);	0.544901	0.16632	U	0.206018	T	0.15522	0.0374	N	0.02539	-0.55	0.20975	N	0.999813	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.04013	0.001;0.001;0.001	T	0.15093	-1.0449	10	0.66056	D	0.02	.	3.6831	0.08317	0.2333:0.0:0.5729:0.1938	.	34;34;34	Q8WZ77;Q96PB1;B2RAS9	.;CASD1_HUMAN;.	S	34	ENSP00000297273:A34S	ENSP00000297273:A34S	A	+	1	0	CASD1	93977432	0.763000	0.28462	0.990000	0.47175	0.941000	0.58515	0.613000	0.24299	0.455000	0.26910	-0.380000	0.06706	GCA	CASD1	-	superfamily_Cyclin-like		0.731	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	G	NM_022900		94139496	+1	no_errors	ENST00000297273	ensembl	human	known	70_37	missense	SNP	0.481	T
CBLL1	79872	genome.wustl.edu	37	7	107398799	107398799	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:107398799G>C	ENST00000440859.3	+	6	1119	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	CBLL1_ENST00000222597.2_Missense_Mutation_p.E217Q|CBLL1_ENST00000415884.2_3'UTR	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	218	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGAAATCCCTGAGCGTTTTAT	0.473																																																	0													173.0	166.0	168.0					7																	107398799		2203	4300	6503	SO:0001583	missense	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.652G>C	7.37:g.107398799G>C	ENSP00000401277:p.Glu218Gln		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	pfscan_Znf_RING	p.E218Q	ENST00000440859.3	37	c.652	CCDS5747.1	7	.	.	.	.	.	.	.	.	.	.	G	15.15	2.746722	0.49257	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.32515	1.45;1.46;1.55	5.14	5.14	0.70334	.	0.284293	0.36778	N	0.002405	T	0.23806	0.0576	N	0.14661	0.345	0.47308	D	0.999387	B;B	0.23185	0.039;0.081	B;B	0.28139	0.05;0.086	T	0.05099	-1.0906	10	0.35671	T	0.21	-0.4204	18.9708	0.92713	0.0:0.0:1.0:0.0	.	217;218	B7ZM03;Q75N03	.;HAKAI_HUMAN	Q	218;97;217;168;164	ENSP00000401277:E218Q;ENSP00000222597:E217Q;ENSP00000410615:E168Q	ENSP00000222597:E217Q	E	+	1	0	CBLL1	107186035	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.774000	0.91767	2.558000	0.86282	0.655000	0.94253	GAG	CBLL1	-	NULL		0.473	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBLL1	HGNC	protein_coding	OTTHUMT00000337156.2	G	NM_024814		107398799	+1	no_errors	ENST00000440859	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC13	152206	genome.wustl.edu	37	3	42799773	42799773	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:42799773T>A	ENST00000310232.6	-	2	148	c.65A>T	c.(64-66)cAg>cTg	p.Q22L	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	22										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCGTTTGTGCTGCATCTCCTG	0.498																																																	0													193.0	155.0	168.0					3																	42799773		2203	4300	6503	SO:0001583	missense	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.65A>T	3.37:g.42799773T>A	ENSP00000309836:p.Gln22Leu			Missense_Mutation	SNP	superfamily_Prefoldin	p.Q22L	ENST00000310232.6	37	c.65	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	T	18.34	3.603317	0.66445	.	.	ENSG00000244607	ENST00000310232	T	0.55234	0.53	4.82	3.66	0.41972	.	0.060528	0.64402	D	0.000002	T	0.48696	0.1514	M	0.76574	2.34	0.80722	D	1	D;P;P	0.54047	0.964;0.904;0.728	P;B;B	0.46076	0.503;0.425;0.286	T	0.58047	-0.7705	10	0.02654	T	1	.	8.4965	0.33132	0.0:0.0927:0.0:0.9073	.	22;22;22	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	L	22	ENSP00000309836:Q22L	ENSP00000309836:Q22L	Q	-	2	0	CCDC13	42774777	1.000000	0.71417	0.974000	0.42286	0.619000	0.37552	5.009000	0.63998	0.859000	0.35456	0.460000	0.39030	CAG	CCDC13	-	NULL		0.498	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	T	NM_144719		42799773	-1	no_errors	ENST00000310232	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC40	55036	genome.wustl.edu	37	17	78064145	78064146	+	Intron	INS	-	-	CAC	rs10693712|rs74672482	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:78064145_78064146insCAC	ENST00000397545.4	+	17	2859				CCDC40_ENST00000374877.3_In_Frame_Ins_p.1013_1014insT|CCDC40_ENST00000573903.1_Intron	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40						axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			tgcacgaacaagggacgcgcgc	0.624														3279	0.654752	0.6369	0.5403	5008	,	,		19685	0.6062		0.6978	False		,,,				2504	0.7658																0																																										SO:0001627	intron_variant	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2832+462->CAC	17.37:g.78064145_78064146insCAC			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	In_Frame_Ins	INS	pfam_E3_ubiquit_lig_BRE1	p.1014in_frame_insT	ENST00000397545.4	37	c.3040_3041	CCDS42395.1	17																																																																																			CCDC40	-	NULL		0.624	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	-	XM_371082		78064146	+1	no_errors	ENST00000374877	ensembl	human	known	70_37	in_frame_ins	INS	0.064:0.067	CAC
CCDC74A	90557	genome.wustl.edu	37	2	132288392	132288392	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:132288392C>G	ENST00000295171.6	+	3	674	c.536C>G	c.(535-537)tCt>tGt	p.S179C	CCDC74A_ENST00000409856.3_Missense_Mutation_p.S113C|CCDC74A_ENST00000467992.2_Missense_Mutation_p.S281C	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	179										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AAGTCCATCTCTAATTCAGGT	0.647																																																	0													48.0	54.0	52.0					2																	132288392		2202	4296	6498	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.536C>G	2.37:g.132288392C>G	ENSP00000295171:p.Ser179Cys		Q6P4I5	Missense_Mutation	SNP	NULL	p.S179C	ENST00000295171.6	37	c.536	CCDS2167.1	2	.	.	.	.	.	.	.	.	.	.	.	14.04	2.416328	0.42918	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.56444	1.8;1.71;0.46;0.57	2.13	2.13	0.27403	.	0.834089	0.09646	U	0.774326	T	0.66066	0.2752	M	0.67953	2.075	0.09310	N	0.999993	P;D	0.76494	0.454;0.999	B;D	0.65684	0.09;0.937	T	0.50906	-0.8772	10	0.66056	D	0.02	-8.5547	7.7472	0.28875	0.0:1.0:0.0:0.0	.	113;179	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	C	179;113;108;281	ENSP00000295171:S179C;ENSP00000387009:S113C;ENSP00000406839:S108C;ENSP00000444610:S281C	ENSP00000295171:S179C	S	+	2	0	CCDC74A	132004862	0.016000	0.18221	0.090000	0.20809	0.171000	0.22731	3.333000	0.52090	1.192000	0.43071	0.194000	0.17425	TCT	CCDC74A	-	NULL		0.647	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	C	NM_138770		132288392	+1	no_errors	ENST00000295171	ensembl	human	known	70_37	missense	SNP	0.222	G
CCDC8	83987	genome.wustl.edu	37	19	46915485	46915485	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:46915485G>A	ENST00000307522.3	-	1	1356	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	195					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ACATACTCCCGCCACCTGTCC	0.716																																																	0													24.0	24.0	24.0					19																	46915485		2203	4300	6503	SO:0001583	missense	83987			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.583C>T	19.37:g.46915485G>A	ENSP00000303158:p.Arg195Trp		Q8TB26	Missense_Mutation	SNP	NULL	p.R195W	ENST00000307522.3	37	c.583	CCDS12685.1	19	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323741	0.81580	.	.	ENSG00000169515	ENST00000307522	T	0.20200	2.09	4.66	3.61	0.41365	.	0.199051	0.24970	N	0.034142	T	0.41971	0.1182	M	0.62723	1.935	0.34176	D	0.670327	D	0.89917	1.0	D	0.81914	0.995	T	0.59064	-0.7524	10	0.87932	D	0	-5.0691	12.7877	0.57516	0.0:0.0:0.8351:0.1648	.	195	Q9H0W5	CCDC8_HUMAN	W	195	ENSP00000303158:R195W	ENSP00000303158:R195W	R	-	1	2	CCDC8	51607325	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	3.995000	0.57001	1.246000	0.43901	0.655000	0.94253	CGG	CCDC8	-	NULL		0.716	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC8	HGNC	protein_coding	OTTHUMT00000368598.1	G	NM_032040		46915485	-1	no_errors	ENST00000307522	ensembl	human	known	70_37	missense	SNP	0.994	A
CD79B	974	genome.wustl.edu	37	17	62007658	62007658	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:62007658C>G	ENST00000006750.3	-	3	298	c.206G>C	c.(205-207)aGc>aCc	p.S69T	CD79B_ENST00000392795.3_Missense_Mutation_p.S70T|CD79B_ENST00000349817.2_Intron	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	69	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						GCCGGAGGCGCTGTTCATGTA	0.567			"""Mis, O"""		DLBCL																																			Dom	yes		17	17q23	974	"""CD79b molecule, immunoglobulin-associated beta"""		L	0													93.0	80.0	85.0					17																	62007658		2203	4300	6503	SO:0001583	missense	974			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.206G>C	17.37:g.62007658C>G	ENSP00000006750:p.Ser69Thr		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.S70T	ENST00000006750.3	37	c.209	CCDS11655.1	17	.	.	.	.	.	.	.	.	.	.	C	8.041	0.763948	0.15914	.	.	ENSG00000007312	ENST00000392795;ENST00000006750	T;T	0.76839	-1.05;-1.05	5.71	-7.26	0.01466	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.213480	0.01275	N	0.009570	T	0.63698	0.2533	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44436	-0.9328	10	0.15499	T	0.54	-0.3052	2.0495	0.03567	0.1241:0.1525:0.3269:0.3964	.	69	P40259	CD79B_HUMAN	T	70;69	ENSP00000376544:S70T;ENSP00000006750:S69T	ENSP00000006750:S69T	S	-	2	0	CD79B	59361390	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.313000	0.19415	-0.751000	0.04734	0.561000	0.74099	AGC	CD79B	-	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like		0.567	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD79B	HGNC	protein_coding	OTTHUMT00000417711.1	C			62007658	-1	no_errors	ENST00000392795	ensembl	human	known	70_37	missense	SNP	0.000	G
CDKN2A	1029	genome.wustl.edu	37	9	21971096	21971096	+	Missense_Mutation	SNP	C	C	T	rs121913384		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:21971096C>T	ENST00000304494.5	-	2	532	c.262G>A	c.(262-264)Gag>Aag	p.E88K	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102E|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143E|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102E|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E88K	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM034218	CDKN2A	M	rs121913384						13.0	16.0	15.0					9																	21971096		2176	4259	6435	SO:0001583	missense	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.262G>A	9.37:g.21971096C>T	ENSP00000307101:p.Glu88Lys		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	pfam_Cyclin_kinase-Inhib_2A	p.G143E	ENST00000304494.5	37	c.428	CCDS6510.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.960185|3.960185	0.74016|0.74016	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|D;D	0.93426|0.87334	-3.22;-3.22|-2.24;-2.13	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.215520	.|0.23483	.|N	.|0.047681	D|D	0.83399|0.83399	0.5246|0.5246	L|L	0.32530|0.32530	0.975|0.975	0.39248|0.39248	D|D	0.963978|0.963978	D|P	0.64830|0.38597	0.994|0.639	P|B	0.53185|0.37198	0.72|0.243	D|D	0.85634|0.85634	0.1272|0.1272	9|10	0.24483|0.87932	T|D	0.36|0	.|.	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	88|143	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	K|E	88|143;102	ENSP00000307101:E88K;ENSP00000394932:E88K|ENSP00000355153:G143E;ENSP00000432664:G102E	ENSP00000307101:E88K|ENSP00000355153:G143E	E|G	-|-	1|2	0|0	CDKN2A|CDKN2A	21961096|21961096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.901000|3.901000	0.56303|0.56303	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAG|GGA	CDKN2A	-	NULL		0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	C	NM_000077		21971096	-1	no_errors	ENST00000361570	ensembl	human	known	70_37	missense	SNP	1.000	T
CEBPZ	10153	genome.wustl.edu	37	2	37444136	37444136	+	Silent	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:37444136G>T	ENST00000234170.5	-	6	2344	c.2199C>A	c.(2197-2199)acC>acA	p.T733T		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	733					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CCTGAAGGATGGTCTTTGCAA	0.308																																																	0													64.0	69.0	67.0					2																	37444136		2203	4300	6503	SO:0001819	synonymous_variant	10153			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2199C>A	2.37:g.37444136G>T			Q8NE75	Silent	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.T733	ENST00000234170.5	37	c.2199	CCDS1787.1	2																																																																																			CEBPZ	-	superfamily_ARM-type_fold		0.308	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2	G	NM_005760		37444136	-1	no_errors	ENST00000234170	ensembl	human	known	70_37	silent	SNP	0.997	T
CEP192	55125	genome.wustl.edu	37	18	13049854	13049854	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:13049854C>G	ENST00000325971.8	+	15	2786	c.1193C>G	c.(1192-1194)tCt>tGt	p.S398C	CEP192_ENST00000506447.1_Missense_Mutation_p.S994C|CEP192_ENST00000430049.2_Missense_Mutation_p.S519C			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	398					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGAGTCATTCTTCTCCTAGT	0.408																																																	0													102.0	98.0	99.0					18																	13049854		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1193C>G	18.37:g.13049854C>G	ENSP00000317156:p.Ser398Cys		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.S994C	ENST00000325971.8	37	c.2981		18	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068095	0.76301	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.79454	-1.27;-1.27;-1.27	5.55	4.68	0.58851	.	0.100168	0.44902	D	0.000405	D	0.86226	0.5882	M	0.66939	2.045	0.50467	D	0.99987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.991;0.998	D	0.87699	0.2559	10	0.87932	D	0	-14.0833	13.795	0.63166	0.0:0.9263:0.0:0.0737	.	519;994;398	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	C	994;398;398;519	ENSP00000427550:S994C;ENSP00000317156:S398C;ENSP00000389190:S519C	ENSP00000317156:S398C	S	+	2	0	CEP192	13039854	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.162000	0.64942	1.487000	0.48415	0.650000	0.86243	TCT	CEP192	-	NULL		0.408	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		C	NM_032142		13049854	+1	no_errors	ENST00000506447	ensembl	human	known	70_37	missense	SNP	1.000	G
CES1	1066	genome.wustl.edu	37	16	55862856	55862856	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:55862856T>A	ENST00000361503.4	-	2	210	c.80A>T	c.(79-81)gAc>gTc	p.D27V	CES1_ENST00000422046.2_Missense_Mutation_p.D27V|CES1_ENST00000566555.1_5'Flank|CES1_ENST00000360526.3_Missense_Mutation_p.D28V			P23141	EST1_HUMAN	carboxylesterase 1	27				DT -> AK (in Ref. 14; AA sequence). {ECO:0000305}.	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)	ATGCACGGTGTCCACCACAGG	0.547																																					NSCLC(162;1801 2756 42904 52896)												0													55.0	42.0	46.0					16																	55862856		2198	4300	6498	SO:0001583	missense	1066			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.80A>T	16.37:g.55862856T>A	ENSP00000355193:p.Asp27Val		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.D28V	ENST00000361503.4	37	c.83	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	9.600	1.128427	0.21041	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.67698	-0.28;-0.28;-0.28	4.48	3.36	0.38483	Carboxylesterase, type B (1);	0.263994	0.26734	N	0.022775	T	0.61714	0.2369	L	0.37800	1.135	0.41863	D	0.990232	B;P;B	0.37731	0.358;0.607;0.308	B;P;B	0.46275	0.297;0.51;0.197	T	0.58555	-0.7616	10	0.45353	T	0.12	.	8.7635	0.34689	0.0:0.0:0.3743:0.6256	.	27;27;28	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	V	28;27;27	ENSP00000353720:D28V;ENSP00000355193:D27V;ENSP00000390492:D27V	ENSP00000353720:D28V	D	-	2	0	CES1	54420357	0.986000	0.35501	0.988000	0.46212	0.406000	0.30931	0.624000	0.24462	0.565000	0.29255	-0.875000	0.02981	GAC	CES1	-	pfam_CarbesteraseB		0.547	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	T	NM_001266		55862856	-1	no_errors	ENST00000360526	ensembl	human	known	70_37	missense	SNP	0.998	A
CES1	1066	genome.wustl.edu	37	16	55862859	55862859	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:55862859A>T	ENST00000361503.4	-	2	207	c.77T>A	c.(76-78)gTg>gAg	p.V26E	CES1_ENST00000422046.2_Missense_Mutation_p.V26E|CES1_ENST00000566555.1_5'Flank|CES1_ENST00000360526.3_Missense_Mutation_p.V27E			P23141	EST1_HUMAN	carboxylesterase 1	26					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)	CACGGTGTCCACCACAGGTGG	0.557																																					NSCLC(162;1801 2756 42904 52896)												0													52.0	40.0	44.0					16																	55862859		2198	4300	6498	SO:0001583	missense	1066			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.77T>A	16.37:g.55862859A>T	ENSP00000355193:p.Val26Glu		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.V27E	ENST00000361503.4	37	c.80	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883565	0.51908	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.74842	-0.88;-0.88;-0.88	4.48	4.48	0.54585	Carboxylesterase, type B (1);	0.000000	0.43579	D	0.000556	D	0.89515	0.6737	H	0.96398	3.815	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	D	0.91486	0.5208	10	0.56958	D	0.05	.	11.7557	0.51874	1.0:0.0:0.0:0.0	.	26;26;27	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	E	27;26;26	ENSP00000353720:V27E;ENSP00000355193:V26E;ENSP00000390492:V26E	ENSP00000353720:V27E	V	-	2	0	CES1	54420360	1.000000	0.71417	0.998000	0.56505	0.424000	0.31475	5.410000	0.66381	1.666000	0.50821	0.324000	0.21423	GTG	CES1	-	pfam_CarbesteraseB		0.557	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	A	NM_001266		55862859	-1	no_errors	ENST00000360526	ensembl	human	known	70_37	missense	SNP	1.000	T
CFTR	1080	genome.wustl.edu	37	7	117251838	117251838	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:117251838A>G	ENST00000003084.6	+	20	3475	c.3343A>G	c.(3343-3345)Acc>Gcc	p.T1115A	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.T1054A	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1115	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CATTGCTGTTACCTTCATTTC	0.328									Cystic Fibrosis																																								0													90.0	80.0	83.0					7																	117251838		2203	4300	6503	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3343A>G	7.37:g.117251838A>G	ENSP00000003084:p.Thr1115Ala		Q20BG8|Q20BH2|Q2I0A1|Q2I102	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,tigrfam_cAMP_cl_channel	p.T1115A	ENST00000003084.6	37	c.3343	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	A	1.611	-0.524084	0.04141	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.89681	-2.55;-2.55;-2.55	5.38	4.24	0.50183	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.105856	0.64402	D	0.000002	T	0.70343	0.3213	N	0.05608	-0.01	0.29913	N	0.823376	B	0.02656	0.0	B	0.10450	0.005	T	0.59643	-0.7416	10	0.02654	T	1	-10.3369	4.5195	0.11952	0.6908:0.0:0.1644:0.1448	.	1115	P13569	CFTR_HUMAN	A	1115;1054;1085	ENSP00000003084:T1115A;ENSP00000403677:T1054A;ENSP00000389119:T1085A	ENSP00000003084:T1115A	T	+	1	0	CFTR	117039074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.699000	0.47077	0.998000	0.38996	0.528000	0.53228	ACC	CFTR	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel		0.328	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	A	NM_000492		117251838	+1	no_errors	ENST00000003084	ensembl	human	known	70_37	missense	SNP	0.998	G
CHD8	57680	genome.wustl.edu	37	14	21861276	21861276	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr14:21861276C>G	ENST00000557364.1	-	33	6720	c.6457G>C	c.(6457-6459)Gag>Cag	p.E2153Q	CHD8_ENST00000430710.3_Missense_Mutation_p.E1874Q|CHD8_ENST00000399982.2_Missense_Mutation_p.E2153Q|SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2153					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)		TTGGGCCACTCAGAGGCTCTT	0.468																																																	0													87.0	87.0	87.0					14																	21861276		1861	4112	5973	SO:0001583	missense	57680			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.6457G>C	14.37:g.21861276C>G	ENSP00000451601:p.Glu2153Gln		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.E2153Q	ENST00000557364.1	37	c.6457	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274203	0.23221	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.89681	-2.54;-2.55;-2.55	5.39	5.39	0.77823	.	0.077917	0.52532	D	0.000063	D	0.86489	0.5945	L	0.36672	1.1	0.30861	N	0.733554	D	0.56968	0.978	P	0.47528	0.549	D	0.84408	0.0564	10	0.29301	T	0.29	-20.3332	16.1768	0.81857	0.0:1.0:0.0:0.0	.	1874	Q9HCK8-2	.	Q	1874;2153;1873;2153	ENSP00000406288:E1874Q;ENSP00000382863:E2153Q;ENSP00000451601:E2153Q	ENSP00000262707:E1873Q	E	-	1	0	CHD8	20931116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.205000	0.51090	2.808000	0.96608	0.655000	0.94253	GAG	CHD8	-	NULL		0.468	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21861276	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	G
CHI3L2	1117	genome.wustl.edu	37	1	111777568	111777568	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:111777568A>T	ENST00000445067.2	+	7	1140	c.369A>T	c.(367-369)gaA>gaT	p.E123D	CHI3L2_ENST00000524472.1_Missense_Mutation_p.E44D|CHI3L2_ENST00000369748.4_Missense_Mutation_p.E123D|CHI3L2_ENST00000466741.1_Missense_Mutation_p.E44D|CHI3L2_ENST00000369744.2_Missense_Mutation_p.E113D			Q15782	CH3L2_HUMAN	chitinase 3-like 2	123					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CACGCTTGGAATTCATTAACT	0.403																																																	0													131.0	117.0	122.0					1																	111777568		2203	4300	6503	SO:0001583	missense	1117			U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.369A>T	1.37:g.111777568A>T	ENSP00000437082:p.Glu123Asp		A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.E123D	ENST00000445067.2	37	c.369	CCDS30802.1	1	.	.	.	.	.	.	.	.	.	.	A	7.888	0.731790	0.15507	.	.	ENSG00000064886	ENST00000445067;ENST00000528451;ENST00000486561;ENST00000369744;ENST00000369748;ENST00000474304;ENST00000466741;ENST00000477185;ENST00000467038;ENST00000497587;ENST00000524472	T;T;T;T;T;T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42;3.42;3.42;3.42;3.42;3.42	3.71	-2.39	0.06602	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.114660	0.06972	N	0.818338	T	0.01695	0.0054	L	0.46157	1.445	0.19300	N	0.999977	B;B;B	0.30068	0.125;0.125;0.267	B;B;B	0.29942	0.109;0.109;0.109	T	0.47302	-0.9128	10	0.62326	D	0.03	-2.3624	0.8904	0.01253	0.4821:0.1603:0.2016:0.1561	.	44;113;123	B4DPR7;A6NNY3;Q15782	.;.;CH3L2_HUMAN	D	123;123;123;113;123;123;44;44;25;44;44	ENSP00000437082:E123D;ENSP00000436077:E123D;ENSP00000431968:E123D;ENSP00000358759:E113D;ENSP00000358763:E123D;ENSP00000437086:E44D;ENSP00000436272:E44D;ENSP00000431978:E25D;ENSP00000436006:E44D;ENSP00000432049:E44D	ENSP00000358759:E113D	E	+	3	2	CHI3L2	111579091	0.000000	0.05858	0.004000	0.12327	0.101000	0.19017	-1.682000	0.01935	-0.254000	0.09500	0.379000	0.24179	GAA	CHI3L2	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.403	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L2	HGNC	protein_coding	OTTHUMT00000033669.4	A	NM_004000		111777568	+1	no_errors	ENST00000369748	ensembl	human	known	70_37	missense	SNP	0.036	T
CHRNA7	1139	genome.wustl.edu	37	15	32460411	32460411	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:32460411C>A	ENST00000306901.3	+	10	1358	c.1261C>A	c.(1261-1263)Ctg>Atg	p.L421M	CHRNA7_ENST00000455693.2_Missense_Mutation_p.L240M|CHRNA7_ENST00000454250.3_Missense_Mutation_p.L450M	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	421					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	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)	TGAGCACCTCCTGCACGGCGG	0.692																																					Esophageal Squamous(193;529 2900 40232 43193)												0													3.0	4.0	3.0					15																	32460411		1634	3350	4984	SO:0001583	missense	1139			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1261C>A	15.37:g.32460411C>A	ENSP00000303727:p.Leu421Met		A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L450M	ENST00000306901.3	37	c.1348	CCDS10027.1	15	.	.	.	.	.	.	.	.	.	.	c	3.563	-0.089286	0.07097	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.23552	1.9;1.9;1.9	3.85	2.89	0.33648	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.400500	0.22780	N	0.055732	T	0.28333	0.0700	L	0.55213	1.73	0.37455	D	0.914998	B;B	0.18968	0.032;0.005	B;B	0.33799	0.17;0.016	T	0.23440	-1.0188	10	0.45353	T	0.12	.	10.6275	0.45516	0.201:0.799:0.0:0.0	.	450;421	B4DFS0;P36544	.;ACHA7_HUMAN	M	331;450;421;240	ENSP00000407546:L450M;ENSP00000303727:L421M;ENSP00000405989:L240M	ENSP00000303727:L421M	L	+	1	2	CHRNA7	30247703	0.739000	0.28196	0.521000	0.27850	0.044000	0.14063	1.971000	0.40530	1.138000	0.42230	0.655000	0.94253	CTG	CHRNA7	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.692	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	C			32460411	+1	no_errors	ENST00000454250	ensembl	human	known	70_37	missense	SNP	0.617	A
CLEC3B	7123	genome.wustl.edu	37	3	45077228	45077228	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:45077228G>A	ENST00000296130.4	+	3	601	c.421G>A	c.(421-423)Gag>Aag	p.E141K	CLEC3B_ENST00000428034.1_Missense_Mutation_p.E99K|CLEC3B_ENST00000490386.1_3'UTR|RNU5B-3P_ENST00000516601.1_RNA	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	141	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	CATGGCGGCCGAGGGCACCTG	0.657																																					GBM(139;1487 3263 30871)												0													35.0	36.0	36.0					3																	45077228		2202	4298	6500	SO:0001583	missense	7123				CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"""C-type lectin domain containing"""	11891	protein-coding gene	gene with protein product		187520	"""tetranectin (plasminogen binding protein)"""	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.421G>A	3.37:g.45077228G>A	ENSP00000296130:p.Glu141Lys		Q6FGX6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E141K	ENST00000296130.4	37	c.421	CCDS2726.1	3	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011932	0.75046	.	.	ENSG00000163815	ENST00000296130;ENST00000428034	T;T	0.19105	2.17;2.17	4.53	4.53	0.55603	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.053749	0.64402	D	0.000001	T	0.54679	0.1873	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.67078	-0.5761	10	0.72032	D	0.01	-31.8116	17.6076	0.88042	0.0:0.0:1.0:0.0	.	141	P05452	TETN_HUMAN	K	141;99	ENSP00000296130:E141K;ENSP00000396013:E99K	ENSP00000296130:E141K	E	+	1	0	CLEC3B	45052232	1.000000	0.71417	0.726000	0.30738	0.092000	0.18411	9.360000	0.97119	2.235000	0.73313	0.561000	0.74099	GAG	CLEC3B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.657	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC3B	HGNC	protein_coding	OTTHUMT00000256745.1	G	NM_003278		45077228	+1	no_errors	ENST00000296130	ensembl	human	known	70_37	missense	SNP	1.000	A
CLNS1A	1207	genome.wustl.edu	37	11	77340878	77340878	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:77340878A>T	ENST00000525428.1	-	2	282	c.192T>A	c.(190-192)caT>caA	p.H64Q	CLNS1A_ENST00000532069.1_Missense_Mutation_p.H64Q|CLNS1A_ENST00000525064.1_Missense_Mutation_p.H64Q|CLNS1A_ENST00000263309.3_Missense_Mutation_p.H64Q|CLNS1A_ENST00000528364.1_Missense_Mutation_p.H64Q	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	64					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			TGGATAATGCATGTAAACTAA	0.383																																																	0													111.0	99.0	103.0					11																	77340878		2200	4292	6492	SO:0001583	missense	1207			U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.192T>A	11.37:g.77340878A>T	ENSP00000433919:p.His64Gln		B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	Missense_Mutation	SNP	prints_ICln_channel	p.H64Q	ENST00000525428.1	37	c.192	CCDS8252.1	11	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860381	0.51482	.	.	ENSG00000074201	ENST00000525428;ENST00000263309;ENST00000525064;ENST00000532069;ENST00000528364	T;T;T;T;T	0.79940	-0.08;-1.32;0.1;-0.87;-0.08	5.09	2.7	0.31948	.	0.000000	0.85682	D	0.000000	D	0.91085	0.7194	H	0.95470	3.675	0.58432	D	0.999997	D;P	0.76494	0.999;0.658	D;P	0.83275	0.996;0.612	D	0.89711	0.3912	10	0.52906	T	0.07	-6.3801	8.9305	0.35668	0.7743:0.0:0.2257:0.0	.	64;64	E9PMI6;P54105	.;ICLN_HUMAN	Q	64	ENSP00000433919:H64Q;ENSP00000263309:H64Q;ENSP00000433741:H64Q;ENSP00000434963:H64Q;ENSP00000434311:H64Q	ENSP00000263309:H64Q	H	-	3	2	CLNS1A	77018526	1.000000	0.71417	0.997000	0.53966	0.488000	0.33401	1.035000	0.30216	0.464000	0.27142	0.528000	0.53228	CAT	CLNS1A	-	prints_ICln_channel		0.383	CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNS1A	HGNC	protein_coding	OTTHUMT00000382156.2	A	NM_001293		77340878	-1	no_errors	ENST00000525428	ensembl	human	known	70_37	missense	SNP	1.000	T
CNTN3	5067	genome.wustl.edu	37	3	74535632	74535632	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:74535632G>T	ENST00000263665.6	-	3	360	c.333C>A	c.(331-333)agC>agA	p.S111R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	111	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGGCTTCTCTGCTGACAATTG	0.348																																																	0													132.0	129.0	130.0					3																	74535632		2203	4300	6503	SO:0001583	missense	5067			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.333C>A	3.37:g.74535632G>T	ENSP00000263665:p.Ser111Arg		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.S111R	ENST00000263665.6	37	c.333	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759419	0.69763	.	.	ENSG00000113805	ENST00000263665	T	0.68331	-0.32	5.83	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047654	0.85682	D	0.000000	T	0.82075	0.4958	M	0.89030	3	0.49582	D	0.999801	D	0.89917	1.0	D	0.91635	0.999	D	0.83916	0.0298	10	0.87932	D	0	.	8.9096	0.35546	0.1716:0.0:0.8284:0.0	.	111	Q9P232	CNTN3_HUMAN	R	111	ENSP00000263665:S111R	ENSP00000263665:S111R	S	-	3	2	CNTN3	74618322	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.665000	0.61547	2.763000	0.94921	0.585000	0.79938	AGC	CNTN3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.348	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	G	NM_020872		74535632	-1	no_errors	ENST00000263665	ensembl	human	known	70_37	missense	SNP	1.000	T
CMSS1	84319	genome.wustl.edu	37	3	99865816	99865816	+	Splice_Site	SNP	G	G	A	rs36090016		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:99865816G>A	ENST00000421999.2	+	2	210		c.e2-1		CMSS1_ENST00000489081.1_Splice_Site	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)								poly(A) RNA binding (GO:0044822)										ATATTTTCTAGAAGCATCAGA	0.408																																																	0													64.0	65.0	64.0					3																	99865816		2203	4300	6503	SO:0001630	splice_region_variant	84319				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.65-1G>A	3.37:g.99865816G>A			A8K5S7|B4DUM1|E9PHS3	Splice_Site	SNP	-	e2-1	ENST00000421999.2	37	c.65-1	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	G	8.677	0.904124	0.17760	.	.	ENSG00000184220	ENST00000421999;ENST00000489081	.	.	.	4.29	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.29319	N	0.867479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4117	0.32646	0.1087:0.0:0.8913:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf26	101348506	0.715000	0.27946	0.053000	0.19242	0.010000	0.07245	2.713000	0.47194	1.147000	0.42369	-0.137000	0.14449	.	CMSS1	-	-		0.408	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMSS1	HGNC	protein_coding	OTTHUMT00000353060.1	G	NM_032359	Intron	99865816	+1	no_errors	ENST00000421999	ensembl	human	known	70_37	splice_site	SNP	0.053	A
CNTN5	53942	genome.wustl.edu	37	11	99827718	99827718	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:99827718C>G	ENST00000524871.1	+	8	1144	c.854C>G	c.(853-855)aCg>aGg	p.T285R	CNTN5_ENST00000528682.1_Missense_Mutation_p.T285R|CNTN5_ENST00000418526.2_Missense_Mutation_p.T211R|CNTN5_ENST00000527185.1_Missense_Mutation_p.T285R|CNTN5_ENST00000279463.3_Missense_Mutation_p.T285R	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	285					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTCCTCCAACGCCACTCACT	0.393																																																	0													40.0	40.0	40.0					11																	99827718		1943	4148	6091	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.854C>G	11.37:g.99827718C>G	ENSP00000435637:p.Thr285Arg		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	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.T285R	ENST00000524871.1	37	c.854	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907457	0.52333	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.57907	0.37;0.43;0.43;0.43;0.43	5.47	5.47	0.80525	Immunoglobulin subtype (1);	0.050201	0.85682	D	0.000000	T	0.76856	0.4046	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.80195	-0.1483	10	0.87932	D	0	.	18.6577	0.91460	0.0:1.0:0.0:0.0	.	285;211;285	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	R	285;285;285;211;285	ENSP00000433575:T285R;ENSP00000436185:T285R;ENSP00000435637:T285R;ENSP00000393229:T211R;ENSP00000279463:T285R	ENSP00000279463:T285R	T	+	2	0	CNTN5	99332928	1.000000	0.71417	0.979000	0.43373	0.100000	0.18952	7.417000	0.80156	2.711000	0.92665	0.585000	0.79938	ACG	CNTN5	-	smart_Ig_sub		0.393	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	C	NM_014361		99827718	+1	no_errors	ENST00000279463	ensembl	human	known	70_37	missense	SNP	1.000	G
CNTNAP1	8506	genome.wustl.edu	37	17	40839792	40839792	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:40839792G>T	ENST00000264638.4	+	8	1316	c.1099G>T	c.(1099-1101)Ggc>Tgc	p.G367C	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	367					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAACTTCGGAGGCCCTCACAA	0.602																																																	0													129.0	113.0	118.0					17																	40839792		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1099G>T	17.37:g.40839792G>T	ENSP00000264638:p.Gly367Cys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G367C	ENST00000264638.4	37	c.1099	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585172	0.86748	.	.	ENSG00000108797	ENST00000264638	D	0.83506	-1.73	5.2	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	D	0.000001	D	0.89525	0.6740	L	0.59436	1.845	0.58432	D	0.999996	D	0.76494	0.999	D	0.69479	0.964	D	0.90409	0.4408	10	0.72032	D	0.01	.	18.7278	0.91720	0.0:0.0:1.0:0.0	.	367	P78357	CNTP1_HUMAN	C	367	ENSP00000264638:G367C	ENSP00000264638:G367C	G	+	1	0	CNTNAP1	38093318	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.415000	0.97375	2.405000	0.81733	0.655000	0.94253	GGC	CNTNAP1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.602	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	G	NM_003632		40839792	+1	no_errors	ENST00000264638	ensembl	human	known	70_37	missense	SNP	1.000	T
COG4	25839	genome.wustl.edu	37	16	70530310	70530310	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:70530310C>T	ENST00000323786.5	-	12	1527	c.1506G>A	c.(1504-1506)cgG>cgA	p.R502R		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	498					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GAAAGCCCATCCGCAGCTTAT	0.552																																																	0													99.0	80.0	87.0					16																	70530310		2198	4300	6498	SO:0001819	synonymous_variant	25839			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1506G>A	16.37:g.70530310C>T			B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	pfam_COG_su4,smart_COG_su4	p.R502	ENST00000323786.5	37	c.1506	CCDS10892.2	16																																																																																			COG4	-	pfam_COG_su4,smart_COG_su4		0.552	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000250326.3	C			70530310	-1	no_errors	ENST00000323786	ensembl	human	known	70_37	silent	SNP	0.987	T
COL11A1	1301	genome.wustl.edu	37	1	103471840	103471840	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:103471840G>A	ENST00000370096.3	-	16	2027	c.1715C>T	c.(1714-1716)cCa>cTa	p.P572L	COL11A1_ENST00000512756.1_Missense_Mutation_p.P456L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P533L|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Missense_Mutation_p.P584L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	572	Collagen-like 2.|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)		TTTTCCCGTTGGACCAGGGGG	0.358																																																	0													49.0	56.0	54.0					1																	103471840		2203	4300	6503	SO:0001583	missense	1301			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.1715C>T	1.37:g.103471840G>A	ENSP00000359114:p.Pro572Leu		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.P584L	ENST00000370096.3	37	c.1751	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314633	0.40996	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.96685	-3.2;-3.2;-3.2;-4.09	5.5	3.64	0.41730	.	0.194350	0.46145	N	0.000315	D	0.91331	0.7266	M	0.67517	2.055	0.58432	D	0.999991	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	D	0.87986	0.2746	10	0.45353	T	0.12	.	9.807	0.40799	0.2187:0.0:0.7813:0.0	.	456;533;584;572	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	L	572;584;533;456	ENSP00000359114:P572L;ENSP00000351163:P584L;ENSP00000302551:P533L;ENSP00000426533:P456L	ENSP00000302551:P533L	P	-	2	0	COL11A1	103244428	1.000000	0.71417	0.710000	0.30468	0.885000	0.51271	2.591000	0.46163	0.703000	0.31848	-0.251000	0.11542	CCA	COL11A1	-	pfam_Collagen		0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	G	NM_080630		103471840	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	0.782	A
COL2A1	1280	genome.wustl.edu	37	12	48393727	48393727	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:48393727G>T	ENST00000380518.3	-	2	431	c.267C>A	c.(265-267)tgC>tgA	p.C89*	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	89	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGTCAGTTGGGCAGATGGGGC	0.488																																																	0													74.0	81.0	79.0					12																	48393727		2067	4210	6277	SO:0001587	stop_gained	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.267C>A	12.37:g.48393727G>T	ENSP00000369889:p.Cys89*		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.C89*	ENST00000380518.3	37	c.267	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.169018	0.94768	.	.	ENSG00000139219	ENST00000380518	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0369	0.47806	0.0902:0.0:0.9098:0.0	.	.	.	.	X	89	.	ENSP00000369889:C89X	C	-	3	2	COL2A1	46679994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.031000	0.57267	2.584000	0.87258	0.563000	0.77884	TGC	COL2A1	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.488	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	G	NM_001844		48393727	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	nonsense	SNP	1.000	T
COL3A1	1281	genome.wustl.edu	37	2	189875551	189875551	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:189875551G>A	ENST00000304636.3	+	50	4359	c.4189G>A	c.(4189-4191)Gaa>Aaa	p.E1397K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E1094K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1397	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGGGTCAAATGAAGGTGAATT	0.423																																																	0													90.0	83.0	85.0					2																	189875551		2203	4300	6503	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4189G>A	2.37:g.189875551G>A	ENSP00000304408:p.Glu1397Lys		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.E1397K	ENST00000304636.3	37	c.4189	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508257	0.85282	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.74842	-0.88;-0.88	5.29	5.29	0.74685	Fibrillar collagen, C-terminal (4);	0.378661	0.22387	N	0.060739	T	0.78278	0.4258	M	0.82132	2.575	0.45837	D	0.998704	P	0.35493	0.505	B	0.37015	0.239	T	0.78204	-0.2295	10	0.36615	T	0.2	.	18.9332	0.92574	0.0:0.0:1.0:0.0	.	1397	P02461	CO3A1_HUMAN	K	1397;1094	ENSP00000304408:E1397K;ENSP00000315243:E1094K	ENSP00000304408:E1397K	E	+	1	0	COL3A1	189583796	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.481000	0.83766	0.655000	0.94253	GAA	COL3A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.423	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	G	NM_000090		189875551	+1	no_errors	ENST00000304636	ensembl	human	known	70_37	missense	SNP	1.000	A
COL4A4	1286	genome.wustl.edu	37	2	227895255	227895255	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:227895255C>T	ENST00000396625.3	-	41	4084	c.3877G>A	c.(3877-3879)Gac>Aac	p.D1293N	COL4A4_ENST00000329662.7_Missense_Mutation_p.D1293N	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1293	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGACCACAGTCACCTGGCTCC	0.552																																																	0													84.0	81.0	82.0					2																	227895255		1894	4117	6011	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3877G>A	2.37:g.227895255C>T	ENSP00000379866:p.Asp1293Asn		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.D1293N	ENST00000396625.3	37	c.3877	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669072	0.47677	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94232	-3.38;-3.28	5.69	5.69	0.88448	.	.	.	.	.	D	0.94542	0.8242	L	0.52823	1.66	0.44579	D	0.99754	D	0.69078	0.997	D	0.66497	0.944	D	0.91694	0.5368	9	0.11182	T	0.66	.	15.3115	0.74035	0.0:1.0:0.0:0.0	.	1293	P53420	CO4A4_HUMAN	N	1293	ENSP00000379866:D1293N;ENSP00000328553:D1293N	ENSP00000328553:D1293N	D	-	1	0	COL4A4	227603499	0.994000	0.37717	0.981000	0.43875	0.771000	0.43674	2.741000	0.47426	2.682000	0.91365	0.609000	0.83330	GAC	COL4A4	-	pfam_Collagen		0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	C	NM_000092		227895255	-1	no_errors	ENST00000396625	ensembl	human	known	70_37	missense	SNP	0.993	T
COL4A5	1287	genome.wustl.edu	37	X	107909764	107909764	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:107909764G>A	ENST00000361603.2	+	39	3737	c.3493G>A	c.(3493-3495)Gaa>Aaa	p.E1165K	COL4A5_ENST00000328300.6_Missense_Mutation_p.E1165K	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1165	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						GCCTCCAGGCGAAAAAGGCAA	0.458									Alport syndrome with Diffuse Leiomyomatosis																																								0													65.0	57.0	60.0					X																	107909764		2203	4300	6503	SO:0001583	missense	1287	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.3493G>A	X.37:g.107909764G>A	ENSP00000354505:p.Glu1165Lys		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.E1165K	ENST00000361603.2	37	c.3493	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147881	0.78001	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93247	-3.19;-3.15	5.36	5.36	0.76844	.	0.069091	0.56097	D	0.000024	D	0.94291	0.8166	L	0.50333	1.59	0.49798	D	0.999827	D;D	0.69078	0.997;0.997	P;P	0.60012	0.867;0.867	D	0.92057	0.5653	10	0.12103	T	0.63	.	18.2087	0.89863	0.0:0.0:1.0:0.0	.	1165;1165	E7EVY4;P29400	.;CO4A5_HUMAN	K	1165	ENSP00000331902:E1165K;ENSP00000354505:E1165K	ENSP00000331902:E1165K	E	+	1	0	COL4A5	107796420	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.265000	0.89869	2.237000	0.73441	0.529000	0.55759	GAA	COL4A5	-	pfam_Collagen		0.458	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	G			107909764	+1	no_errors	ENST00000328300	ensembl	human	known	70_37	missense	SNP	1.000	A
COL7A1	1294	genome.wustl.edu	37	3	48605318	48605318	+	Missense_Mutation	SNP	G	G	A	rs376588113		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:48605318G>A	ENST00000328333.8	-	106	7989	c.7882C>T	c.(7882-7884)Cgg>Tgg	p.R2628W	COL7A1_ENST00000470076.1_5'Flank|COL7A1_ENST00000454817.1_Missense_Mutation_p.R2596W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2628	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)		TTCACTCCCCGTTCACCCTGA	0.582																																																	0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	84.0	81.0		7882	3.1	0.3	3		81	0,8600		0,0,4300	no	missense	COL7A1	NM_000094.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2628/2945	48605318	1,13005	2203	4300	6503	SO:0001583	missense	1294			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.7882C>T	3.37:g.48605318G>A	ENSP00000332371:p.Arg2628Trp		Q14054|Q16507	Missense_Mutation	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.R2628W	ENST00000328333.8	37	c.7882	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503591	0.44558	2.27E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.96334	-3.98;-3.98	4.97	3.12	0.35913	.	0.206679	0.23386	N	0.048751	D	0.94981	0.8376	M	0.87547	2.89	0.25087	N	0.990886	B	0.27951	0.195	B	0.25759	0.063	D	0.90276	0.4311	10	0.62326	D	0.03	.	5.0655	0.14580	0.1617:0.0:0.5387:0.2997	.	2628	Q02388	CO7A1_HUMAN	W	2628;2596	ENSP00000332371:R2628W;ENSP00000412569:R2596W	ENSP00000332371:R2628W	R	-	1	2	COL7A1	48580322	1.000000	0.71417	0.347000	0.25668	0.791000	0.44710	5.393000	0.66279	0.469000	0.27268	-0.251000	0.11542	CGG	COL7A1	-	pfam_Collagen		0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	G	NM_000094		48605318	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.982	A
COL7A1	1294	genome.wustl.edu	37	3	48612260	48612260	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:48612260T>A	ENST00000328333.8	-	76	6425	c.6318A>T	c.(6316-6318)gaA>gaT	p.E2106D	COL7A1_ENST00000454817.1_Missense_Mutation_p.E2074D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2106	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)		GGGGTCCCTGTTCTCCAGAGA	0.567																																																	0													50.0	48.0	48.0					3																	48612260		2203	4300	6503	SO:0001583	missense	1294			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.6318A>T	3.37:g.48612260T>A	ENSP00000332371:p.Glu2106Asp		Q14054|Q16507	Missense_Mutation	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.E2106D	ENST00000328333.8	37	c.6318	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	T	17.09	3.300209	0.60195	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94232	-3.38;-3.38	5.1	-10.2	0.00374	.	0.177212	0.25610	N	0.029484	T	0.81786	0.4896	L	0.28458	0.855	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.67665	-0.5612	10	0.13470	T	0.59	.	9.3154	0.37930	0.0909:0.6096:0.0917:0.2077	.	2106	Q02388	CO7A1_HUMAN	D	2106;2074	ENSP00000332371:E2106D;ENSP00000412569:E2074D	ENSP00000332371:E2106D	E	-	3	2	COL7A1	48587264	0.001000	0.12720	0.006000	0.13384	0.839000	0.47603	-1.047000	0.03521	-1.955000	0.01023	0.379000	0.24179	GAA	COL7A1	-	pfam_Collagen		0.567	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	T	NM_000094		48612260	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.001	A
CORO2A	7464	genome.wustl.edu	37	9	100897207	100897207	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:100897207G>T	ENST00000343933.5	-	4	606	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	CORO2A_ENST00000375077.4_Missense_Mutation_p.L117M	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	117					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TTCCTGGTCAGCAGCTGCTTG	0.632																																																	0													83.0	71.0	75.0					9																	100897207		2203	4300	6503	SO:0001583	missense	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.349C>A	9.37:g.100897207G>T	ENSP00000343746:p.Leu117Met		Q5TBR5|Q92829|Q9BWS5	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.L117M	ENST00000343933.5	37	c.349	CCDS6735.1	9	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691600	0.30052	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.08008	3.14;3.14	5.37	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.146540	0.45867	D	0.000331	T	0.14399	0.0348	M	0.81942	2.565	0.43014	D	0.994556	B	0.32939	0.391	B	0.38985	0.287	T	0.01413	-1.1361	10	0.72032	D	0.01	-5.801	6.3224	0.21225	0.1549:0.0:0.6955:0.1496	.	117	Q92828	COR2A_HUMAN	M	117	ENSP00000343746:L117M;ENSP00000364218:L117M	ENSP00000343746:L117M	L	-	1	2	CORO2A	99937028	0.007000	0.16637	0.938000	0.37757	0.379000	0.30106	0.136000	0.15974	0.802000	0.34089	-0.188000	0.12872	CTG	CORO2A	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.632	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1	G	NM_003389		100897207	-1	no_errors	ENST00000343933	ensembl	human	known	70_37	missense	SNP	0.973	T
CPSF6	11052	genome.wustl.edu	37	12	69650495	69650495	+	Silent	SNP	T	T	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:69650495T>C	ENST00000435070.2	+	4	503	c.393T>C	c.(391-393)gtT>gtC	p.V131V	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Silent_p.V131V|CPSF6_ENST00000456847.3_Silent_p.V131V	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	131	Necessary for interaction with NUDT21/CPSF5.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TTGTTGGTGTTGGATCTGAAG	0.343																																																	0													119.0	119.0	119.0					12																	69650495		2203	4300	6503	SO:0001819	synonymous_variant	11052			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.393T>C	12.37:g.69650495T>C			A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V131	ENST00000435070.2	37	c.393	CCDS8988.1	12																																																																																			CPSF6	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.343	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	T	NM_007007		69650495	+1	no_errors	ENST00000266679	ensembl	human	known	70_37	silent	SNP	1.000	C
CTNND2	1501	genome.wustl.edu	37	5	11364723	11364723	+	Intron	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:11364723C>T	ENST00000304623.8	-	8	1562				CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000495388.2_Intron|CTNND2_ENST00000511377.1_Intron|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGACACACACCTTTCATTTG	0.498																																																	0																																										SO:0001627	intron_variant	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1372+84G>A	5.37:g.11364723C>T			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Splice_Site	SNP	-	NULL	ENST00000304623.8	37	c.NULL	CCDS3881.1	5																																																																																			CTNND2	-	-		0.498	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	C	NM_001332		11364723	-1	no_errors	ENST00000506735	ensembl	human	known	70_37	splice_site	SNP	0.055	T
CUX2	23316	genome.wustl.edu	37	12	111744900	111744900	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:111744900A>G	ENST00000261726.6	+	11	1188	c.1034A>G	c.(1033-1035)aAg>aGg	p.K345R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	345					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCACGGCCAAGTCCGAGGCC	0.642																																																	0													19.0	24.0	23.0					12																	111744900		2007	4169	6176	SO:0001583	missense	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1034A>G	12.37:g.111744900A>G	ENSP00000261726:p.Lys345Arg		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.K345R	ENST00000261726.6	37	c.1034	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	A	28.8	4.955644	0.92726	.	.	ENSG00000111249	ENST00000261726	T	0.53857	0.6	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	M	0.74647	2.275	0.53688	D	0.999971	D	0.69078	0.997	D	0.75020	0.985	T	0.69647	-0.5089	10	0.30854	T	0.27	-37.8956	14.9123	0.70767	1.0:0.0:0.0:0.0	.	345	O14529	CUX2_HUMAN	R	345	ENSP00000261726:K345R	ENSP00000261726:K345R	K	+	2	0	CUX2	110229283	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.949000	0.93012	2.010000	0.58986	0.523000	0.50628	AAG	CUX2	-	superfamily_Prefoldin		0.642	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	A	NM_015267		111744900	+1	no_errors	ENST00000261726	ensembl	human	known	70_37	missense	SNP	1.000	G
CYP1A1	1543	genome.wustl.edu	37	15	75014035	75014035	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:75014035G>T	ENST00000379727.3	-	3	1047	c.849C>A	c.(847-849)gaC>gaA	p.D283E	CYP1A1_ENST00000567032.1_Missense_Mutation_p.D283E|CYP1A1_ENST00000395049.4_Missense_Mutation_p.D283E|CYP1A1_ENST00000564596.1_Missense_Mutation_p.D22E|CYP1A1_ENST00000395048.2_Missense_Mutation_p.D283E			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	283					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CAATCAGGCTGTCTGTGATGT	0.517									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																								0													173.0	141.0	152.0					15																	75014035		2197	4296	6493	SO:0001583	missense	1543	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.849C>A	15.37:g.75014035G>T	ENSP00000369050:p.Asp283Glu		A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D283E	ENST00000379727.3	37	c.849	CCDS10268.1	15	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941976	0.73557	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	D;D;D	0.82167	-1.58;-1.58;-1.58	5.05	3.14	0.36123	.	0.000000	0.85682	D	0.000000	D	0.89266	0.6666	M	0.92122	3.275	0.53688	D	0.999975	P;P	0.45768	0.866;0.866	P;P	0.52066	0.689;0.689	D	0.89787	0.3965	10	0.72032	D	0.01	.	9.0945	0.36632	0.2277:0.0:0.7723:0.0	.	283;283	E7EMT5;P04798	.;CP1A1_HUMAN	E	283;283;283;255	ENSP00000369050:D283E;ENSP00000378488:D283E;ENSP00000378489:D283E	ENSP00000268062:D255E	D	-	3	2	CYP1A1	72801088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.446000	0.52928	1.129000	0.42072	0.650000	0.86243	GAC	CYP1A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP1		0.517	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A1	HGNC	protein_coding	OTTHUMT00000286396.1	G	NM_000499		75014035	-1	no_errors	ENST00000379727	ensembl	human	known	70_37	missense	SNP	1.000	T
CYP26B1	56603	genome.wustl.edu	37	2	72361952	72361952	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:72361952G>T	ENST00000001146.2	-	4	1002	c.799C>A	c.(799-801)Ctg>Atg	p.L267M	CYP26B1_ENST00000546307.1_Missense_Mutation_p.L192M|CYP26B1_ENST00000412253.1_Missense_Mutation_p.L76M	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	267					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AGGAGGTCCAGGGCGTCCAAG	0.627																																																	0													161.0	127.0	138.0					2																	72361952		2203	4300	6503	SO:0001583	missense	56603				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.799C>A	2.37:g.72361952G>T	ENSP00000001146:p.Leu267Met		B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450	p.L267M	ENST00000001146.2	37	c.799	CCDS1919.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040285	0.75732	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.72835	-0.69;-0.69;-0.69	5.02	4.14	0.48551	.	0.000000	0.64402	D	0.000001	T	0.80639	0.4661	M	0.72479	2.2	0.51767	D	0.99993	D;D;P	0.71674	0.998;0.998;0.905	D;D;P	0.75484	0.986;0.98;0.806	T	0.81097	-0.1087	10	0.66056	D	0.02	0.004	8.9844	0.35986	0.1721:0.0:0.8279:0.0	.	192;250;267	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	M	267;76;192	ENSP00000001146:L267M;ENSP00000401465:L76M;ENSP00000443304:L192M	ENSP00000001146:L267M	L	-	1	2	CYP26B1	72215460	1.000000	0.71417	0.847000	0.33407	0.930000	0.56654	3.375000	0.52410	1.249000	0.43950	0.591000	0.81541	CTG	CYP26B1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.627	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP26B1	HGNC	protein_coding	OTTHUMT00000251969.1	G	NM_019885		72361952	-1	no_errors	ENST00000001146	ensembl	human	known	70_37	missense	SNP	0.971	T
CYP4F11	57834	genome.wustl.edu	37	19	16032932	16032932	+	Missense_Mutation	SNP	G	G	A	rs376221111		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:16032932G>A	ENST00000402119.4	-	8	1456	c.1030C>T	c.(1030-1032)Ctt>Ttt	p.L344F	CYP4F11_ENST00000248041.8_Missense_Mutation_p.L344F|CYP4F11_ENST00000326742.8_Missense_Mutation_p.L344F|CYP4F11_ENST00000591841.1_Missense_Mutation_p.L19F	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCTTTGCAAGGTGGTATAGG	0.547																																																	0								G	PHE/LEU,PHE/LEU	0,4406		0,0,2203	116.0	99.0	105.0		1030,1030	1.6	0.8	19		105	1,8599		0,1,4299	no	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	22,22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	344/525,344/525	16032932	1,13005	2203	4300	6503	SO:0001583	missense	57834			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1030C>T	19.37:g.16032932G>A	ENSP00000384588:p.Leu344Phe			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.L344F	ENST00000402119.4	37	c.1030	CCDS12337.1	19	.	.	.	.	.	.	.	.	.	.	g	10.73	1.431528	0.25813	0.0	1.16E-4	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;D	0.90133	-2.62;-2.62;-1.83	2.77	1.64	0.23874	.	0.000000	0.52532	U	0.000074	D	0.95274	0.8467	H	0.94620	3.56	0.52099	D	0.999942	P;D	0.71674	0.931;0.998	D;D	0.77557	0.924;0.99	D	0.92704	0.6177	10	0.62326	D	0.03	.	5.3236	0.15895	0.2897:0.0:0.7103:0.0	.	344;344	F8W978;Q9HBI6	.;CP4FB_HUMAN	F	344	ENSP00000384588:L344F;ENSP00000248041:L344F;ENSP00000319859:L344F	ENSP00000248041:L344F	L	-	1	0	CYP4F11	15893932	1.000000	0.71417	0.829000	0.32907	0.064000	0.16182	2.376000	0.44292	0.440000	0.26502	0.484000	0.47621	CTT	CYP4F11	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450		0.547	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	HGNC	protein_coding	OTTHUMT00000460385.2	G	NM_021187		16032932	-1	no_errors	ENST00000248041	ensembl	human	known	70_37	missense	SNP	0.998	A
DDX53	168400	genome.wustl.edu	37	X	23019522	23019522	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:23019522G>C	ENST00000327968.5	+	1	1436	c.1348G>C	c.(1348-1350)Gaa>Caa	p.E450Q	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	450	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TGTTACCACAGAAAAAGAAAA	0.353																																																	0													88.0	84.0	85.0					X																	23019522		2203	4300	6503	SO:0001583	missense	168400			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1348G>C	X.37:g.23019522G>C	ENSP00000368667:p.Glu450Gln		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E450Q	ENST00000327968.5	37	c.1348	CCDS35214.1	X	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826076	0.50739	.	.	ENSG00000184735	ENST00000327968	T	0.04862	3.54	4.19	4.19	0.49359	Helicase, C-terminal (1);	0.055343	0.64402	U	0.000001	T	0.06600	0.0169	L	0.35341	1.055	0.44668	D	0.997656	P	0.45594	0.862	B	0.40375	0.327	T	0.36138	-0.9760	10	0.49607	T	0.09	-0.4568	13.518	0.61551	0.0:0.0:1.0:0.0	.	450	Q86TM3	DDX53_HUMAN	Q	450	ENSP00000368667:E450Q	ENSP00000368667:E450Q	E	+	1	0	DDX53	22929443	1.000000	0.71417	0.216000	0.23742	0.033000	0.12548	3.554000	0.53720	1.838000	0.53458	0.513000	0.50165	GAA	DDX53	-	pfscan_Helicase_C		0.353	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX53	HGNC	protein_coding	OTTHUMT00000056043.1	G	NM_182699		23019522	+1	no_errors	ENST00000327968	ensembl	human	known	70_37	missense	SNP	1.000	C
DGCR2	9993	genome.wustl.edu	37	22	19109704	19109704	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:19109704C>T	ENST00000263196.7	-	1	263	c.16G>A	c.(16-18)Gac>Aac	p.D6N	DGCR2_ENST00000545799.1_Missense_Mutation_p.D6N|AC004471.10_ENST00000609936.1_lincRNA|AC004471.9_ENST00000456035.1_RNA|DGCR2_ENST00000537045.1_Missense_Mutation_p.D6N	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	6					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GCGCCGCTGTCTGCCTTGGGC	0.711																																																	0													37.0	36.0	36.0					22																	19109704		2140	4194	6334	SO:0001583	missense	9993			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.16G>A	22.37:g.19109704C>T	ENSP00000263196:p.Asp6Asn		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin	p.D6N	ENST00000263196.7	37	c.16	CCDS33598.1	22	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043228	0.75732	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000545799;ENST00000447928	T;D;D	0.97303	-0.17;-4.33;-4.24	4.65	4.65	0.58169	.	0.211271	0.47093	D	0.000247	D	0.97099	0.9052	M	0.68317	2.08	0.39207	D	0.963243	D;D	0.58620	0.983;0.981	P;P	0.55055	0.731;0.767	D	0.97520	1.0072	10	0.62326	D	0.03	.	11.8741	0.52537	0.0:0.9139:0.0:0.0861	.	6;6	B7Z3T5;P98153	.;IDD_HUMAN	N	6	ENSP00000440062:D6N;ENSP00000263196:D6N;ENSP00000445069:D6N	ENSP00000263196:D6N	D	-	1	0	DGCR2	17489704	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	3.629000	0.54266	2.397000	0.81536	0.650000	0.86243	GAC	DGCR2	-	NULL		0.711	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	HGNC	protein_coding	OTTHUMT00000316504.1	C	NM_005137		19109704	-1	no_errors	ENST00000263196	ensembl	human	known	70_37	missense	SNP	1.000	T
MIR1247	100302145	genome.wustl.edu	37	14	102018911	102018911	+	IGR	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr14:102018911G>T								RP11-1029J19.2 (95457 upstream) : DIO3OS (7712 downstream)																							GCCAAGCCCTGAGGGATGAGA	0.547																																																	0																																										SO:0001628	intergenic_variant	64150																															14.37:g.102018911G>T				RNA	SNP	-	NULL		37	NULL		14																																																																																			DIO3OS	-	-	0	0.547					DIO3OS	HGNC			G			102018911	-1	no_errors	ENST00000553575	ensembl	human	known	70_37	rna	SNP	0.000	T
DIRC2	84925	genome.wustl.edu	37	3	122545861	122545861	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:122545861G>C	ENST00000261038.5	+	3	1050	c.652G>C	c.(652-654)Gag>Cag	p.E218Q		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	218					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.E218Q(1)		endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TCTTGCTGCAGAGAGCAGCAG	0.408																																																	1	Substitution - Missense(1)	lung(1)											131.0	118.0	122.0					3																	122545861		2203	4300	6503	SO:0001583	missense	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.652G>C	3.37:g.122545861G>C	ENSP00000261038:p.Glu218Gln		A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.E218Q	ENST00000261038.5	37	c.652	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566492	0.27915	.	.	ENSG00000138463	ENST00000261038	D	0.91295	-2.82	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.384139	0.32055	N	0.006649	T	0.80470	0.4629	N	0.03608	-0.345	0.31833	N	0.624432	B	0.11235	0.004	B	0.09377	0.004	T	0.72221	-0.4356	10	0.19147	T	0.46	.	19.3093	0.94179	0.0:0.0:1.0:0.0	.	218	Q96SL1	DIRC2_HUMAN	Q	218	ENSP00000261038:E218Q	ENSP00000261038:E218Q	E	+	1	0	DIRC2	124028551	0.910000	0.30920	0.995000	0.50966	0.526000	0.34562	2.351000	0.44071	2.810000	0.96702	0.650000	0.86243	GAG	DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.408	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	G	NM_032839		122545861	+1	no_errors	ENST00000261038	ensembl	human	known	70_37	missense	SNP	0.840	C
DLG5	9231	genome.wustl.edu	37	10	79613995	79613995	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:79613995C>T	ENST00000372391.2	-	4	675	c.670G>A	c.(670-672)Gac>Aac	p.D224N	DLG5_ENST00000372388.2_Missense_Mutation_p.D224N	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	224					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGTAGAAGTCAGTCTCCTTG	0.582																																																	0													94.0	68.0	76.0					10																	79613995		2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.670G>A	10.37:g.79613995C>T	ENSP00000361467:p.Asp224Asn		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.D224N	ENST00000372391.2	37	c.670	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	C	34	5.323345	0.95708	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04406	3.63;3.67	5.55	5.55	0.83447	.	0.000000	0.39146	N	0.001453	T	0.22859	0.0552	M	0.70595	2.14	0.49687	D	0.999819	D	0.89917	1.0	D	0.83275	0.996	T	0.00089	-1.2088	10	0.59425	D	0.04	.	19.5084	0.95130	0.0:1.0:0.0:0.0	.	224	Q8TDM6	DLG5_HUMAN	N	224	ENSP00000361467:D224N;ENSP00000361464:D224N	ENSP00000361464:D224N	D	-	1	0	DLG5	79284001	1.000000	0.71417	0.986000	0.45419	0.980000	0.70556	7.487000	0.81328	2.612000	0.88384	0.655000	0.94253	GAC	DLG5	-	NULL		0.582	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	C			79613995	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	missense	SNP	1.000	T
DMXL2	23312	genome.wustl.edu	37	15	51790822	51790822	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:51790822G>A	ENST00000251076.5	-	18	4886	c.4599C>T	c.(4597-4599)ttC>ttT	p.F1533F	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Silent_p.F1533F|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1533						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGCTACAAGGAACATCTGCT	0.413																																																	0													99.0	93.0	95.0					15																	51790822		2195	4293	6488	SO:0001819	synonymous_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4599C>T	15.37:g.51790822G>A			B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1533	ENST00000251076.5	37	c.4599	CCDS10141.1	15																																																																																			DMXL2	-	pfam_Rav1p_C		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	G	NM_015263		51790822	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	silent	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124402287	124402287	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:124402287C>A	ENST00000409039.3	+	63	10830	c.10805C>A	c.(10804-10806)aCg>aAg	p.T3602K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3602	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGCTGGCCACGTCCACGGGG	0.602																																																	0													40.0	48.0	46.0					12																	124402287		2150	4237	6387	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10805C>A	12.37:g.124402287C>A	ENSP00000386770:p.Thr3602Lys		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.T3602K	ENST00000409039.3	37	c.10805	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605799	0.87157	.	.	ENSG00000197653	ENST00000409039	T	0.53857	0.6	5.24	4.35	0.52113	.	0.124537	0.53938	D	0.000057	T	0.66187	0.2764	L	0.58428	1.81	0.52501	D	0.999956	D	0.64830	0.994	D	0.66351	0.943	T	0.67417	-0.5676	10	0.51188	T	0.08	.	13.5331	0.61633	0.0:0.9246:0.0:0.0754	.	3602	Q8IVF4	DYH10_HUMAN	K	3602	ENSP00000386770:T3602K	ENSP00000386770:T3602K	T	+	2	0	DNAH10	122968240	1.000000	0.71417	0.936000	0.37596	0.746000	0.42486	7.731000	0.84895	1.223000	0.43536	0.491000	0.48974	ACG	DNAH10	-	NULL		0.602	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124402287	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	0.992	A
DNAH17	8632	genome.wustl.edu	37	17	76490185	76490185	+	Missense_Mutation	SNP	A	A	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:76490185A>C	ENST00000585328.1	-	41	6450	c.6326T>G	c.(6325-6327)cTg>cGg	p.L2109R	RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'Flank|DNAH17_ENST00000389840.5_Missense_Mutation_p.L2100R	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2100	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCTCCTCCAGCTGCACCAC	0.617																																																	0													35.0	41.0	39.0					17																	76490185		2183	4278	6461	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6326T>G	17.37:g.76490185A>C	ENSP00000465516:p.Leu2109Arg		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.L2100R	ENST00000585328.1	37	c.6299		17	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479411	0.84747	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.47177	0.85	4.4	4.4	0.53042	.	.	.	.	.	T	0.82199	0.4985	H	0.99752	4.75	0.45318	D	0.998313	.	.	.	.	.	.	D	0.89870	0.4022	7	0.87932	D	0	.	13.7993	0.63190	1.0:0.0:0.0:0.0	.	.	.	.	R	2109;2100	ENSP00000374490:L2100R	ENSP00000300671:L2109R	L	-	2	0	DNAH17	74001780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.819000	0.91997	1.837000	0.53436	0.459000	0.35465	CTG	DNAH17	-	NULL		0.617	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	A	NM_173628		76490185	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	missense	SNP	1.000	C
DPCR1	135656	genome.wustl.edu	37	6	30917602	30917602	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:30917602C>T	ENST00000462446.1	+	2	1389	c.1361C>T	c.(1360-1362)aCa>aTa	p.T454I	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	346						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAGAACACCACACCATCCCCA	0.507																																																	0													222.0	283.0	264.0					6																	30917602		692	1591	2283	SO:0001583	missense	135656			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.1361C>T	6.37:g.30917602C>T	ENSP00000417182:p.Thr454Ile		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.T454I	ENST00000462446.1	37	c.1361	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	1.814	-0.473844	0.04414	.	.	ENSG00000168631	ENST00000462446	T	0.45668	0.89	1.19	0.258	0.15578	.	.	.	.	.	T	0.15478	0.0373	M	0.74258	2.255	0.09310	N	0.999997	P	0.44659	0.84	B	0.32762	0.152	T	0.10636	-1.0621	9	0.41790	T	0.15	.	3.927	0.09269	0.0:0.5586:0.0:0.4414	.	454	E9PEI6	.	I	454	ENSP00000417182:T454I	ENSP00000417182:T454I	T	+	2	0	DPCR1	31025581	0.000000	0.05858	0.004000	0.12327	0.088000	0.18126	0.382000	0.20635	0.116000	0.18110	0.423000	0.28283	ACA	DPCR1	-	NULL		0.507	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	C	NM_080870		30917602	+1	no_errors	ENST00000462446	ensembl	human	novel	70_37	missense	SNP	0.002	T
DNAH8	1769	genome.wustl.edu	37	6	38790763	38790763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:38790763C>T	ENST00000359357.3	+	25	3276	c.3022C>T	c.(3022-3024)Cag>Tag	p.Q1008*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q1008*|SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Q1225*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1008					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGGACTTTCAGAAGTACAA	0.463																																																	0													101.0	104.0	103.0					6																	38790763		2203	4300	6503	SO:0001587	stop_gained	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3022C>T	6.37:g.38790763C>T	ENSP00000352312:p.Gln1008*		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q1008*	ENST00000359357.3	37	c.3022		6	.	.	.	.	.	.	.	.	.	.	C	42	9.741782	0.99252	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.53	3.74	0.42951	.	0.856027	0.10536	N	0.663276	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.511	0.75782	0.0:0.6085:0.3915:0.0	.	.	.	.	X	1213;1213;1008;1008	.	ENSP00000333363:Q1213X	Q	+	1	0	DNAH8	38898741	0.999000	0.42202	0.955000	0.39395	0.785000	0.44390	1.704000	0.37857	0.683000	0.31428	0.467000	0.42956	CAG	DNAH8	-	NULL		0.463	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	C	NM_001206927		38790763	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	nonsense	SNP	0.972	T
DPP10	57628	genome.wustl.edu	37	2	116593781	116593781	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:116593781C>T	ENST00000410059.1	+	22	2479	c.1999C>T	c.(1999-2001)Ctt>Ttt	p.L667F	DPP10_ENST00000393147.2_Missense_Mutation_p.L671F|DPP10_ENST00000409163.1_Missense_Mutation_p.L617F|DPP10_ENST00000310323.8_Missense_Mutation_p.L660F	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	667						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGATGAAAAGCTTTTTAAATG	0.338																																																	0													85.0	84.0	84.0					2																	116593781		2203	4300	6503	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1999C>T	2.37:g.116593781C>T	ENSP00000386565:p.Leu667Phe		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.L671F	ENST00000410059.1	37	c.2011	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855604	0.32791	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.67	-0.731	0.11151	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.409447	0.23876	N	0.043700	T	0.33498	0.0865	L	0.45137	1.4	0.25243	N	0.989733	B;B;B;B	0.15473	0.01;0.013;0.013;0.013	B;B;B;B	0.20577	0.017;0.025;0.03;0.03	T	0.20042	-1.0287	10	0.44086	T	0.13	-30.1652	6.1311	0.20204	0.1169:0.5344:0.0:0.3487	.	660;671;663;667	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	F	667;617;671;660	ENSP00000386565:L667F;ENSP00000387038:L617F;ENSP00000376855:L671F;ENSP00000309066:L660F	ENSP00000309066:L660F	L	+	1	0	DPP10	116310251	0.247000	0.23920	0.950000	0.38849	0.977000	0.68977	0.260000	0.18424	0.053000	0.16036	0.655000	0.94253	CTT	DPP10	-	pfam_Peptidase_S9		0.338	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	C	NM_020868		116593781	+1	no_errors	ENST00000393147	ensembl	human	known	70_37	missense	SNP	0.255	T
DSCAM	1826	genome.wustl.edu	37	21	41496132	41496132	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr21:41496132G>C	ENST00000400454.1	-	20	4163	c.3686C>G	c.(3685-3687)cCc>cGc	p.P1229R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1229	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)				TGTGGGATAGGGGTGGGAGCA	0.547																																					Melanoma(134;970 1778 1785 21664 32388)												0													190.0	195.0	194.0					21																	41496132		2019	4172	6191	SO:0001583	missense	1826			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.3686C>G	21.37:g.41496132G>C	ENSP00000383303:p.Pro1229Arg		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.P1229R	ENST00000400454.1	37	c.3686	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380016	0.42207	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.56611	0.45;0.45	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.118459	0.64402	D	0.000020	T	0.48259	0.1490	L	0.28694	0.88	0.80722	D	1	P	0.46784	0.884	P	0.46629	0.522	T	0.33085	-0.9882	10	0.17832	T	0.49	.	18.7183	0.91684	0.0:0.0:1.0:0.0	.	1229	O60469	DSCAM_HUMAN	R	1229;981	ENSP00000383303:P1229R;ENSP00000385342:P981R	ENSP00000383303:P1229R	P	-	2	0	DSCAM	40418002	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.126000	0.64721	2.392000	0.81423	0.563000	0.77884	CCC	DSCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	G	NM_001389		41496132	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	missense	SNP	1.000	C
DTX3L	151636	genome.wustl.edu	37	3	122283436	122283436	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:122283436C>T	ENST00000296161.4	+	1	352	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000477522.2_5'Flank|PARP9_ENST00000360356.2_5'Flank|DTX3L_ENST00000383661.3_Missense_Mutation_p.R55W|PARP9_ENST00000471785.1_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	55					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGGCACCTTCCGGGTGGAGTT	0.667																																																	0													40.0	48.0	45.0					3																	122283436		2203	4300	6503	SO:0001583	missense	151636				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.163C>T	3.37:g.122283436C>T	ENSP00000296161:p.Arg55Trp		B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R55W	ENST00000296161.4	37	c.163	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973084	0.53614	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.43688	1.5;0.94	4.59	0.205	0.15204	.	1.885300	0.02649	N	0.106243	T	0.33469	0.0864	L	0.31926	0.97	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.06405	0.002;0.0	T	0.30119	-0.9989	10	0.62326	D	0.03	-8.0301	5.9511	0.19246	0.0:0.4948:0.3085:0.1967	.	55;55	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	W	55	ENSP00000296161:R55W;ENSP00000373157:R55W	ENSP00000296161:R55W	R	+	1	2	DTX3L	123766126	0.000000	0.05858	0.031000	0.17742	0.529000	0.34654	0.219000	0.17641	0.126000	0.18424	0.655000	0.94253	CGG	DTX3L	-	NULL		0.667	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	C	NM_138287		122283436	+1	no_errors	ENST00000296161	ensembl	human	known	70_37	missense	SNP	0.003	T
ECT2	1894	genome.wustl.edu	37	3	172536477	172536477	+	Intron	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:172536477C>G	ENST00000392692.3	+	25	2831				ECT2_ENST00000540509.1_Intron|ECT2_ENST00000441497.2_Intron|ECT2_ENST00000427830.1_Nonsense_Mutation_p.S901*|ECT2_ENST00000232458.5_Intron|ECT2_ENST00000417960.1_Intron	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2						activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			GCTAGTTTTTCAGAGATACTA	0.383																																																	0																																										SO:0001627	intron_variant	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2656-1461C>G	3.37:g.172536477C>G			Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.S901*	ENST00000392692.3	37	c.2702	CCDS58860.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.071691|7.071691	0.98044|0.98044	.|.	.|.	ENSG00000114346|ENSG00000114346	ENST00000437296|ENST00000427830	.|.	.|.	.|.	5.21|5.21	2.32|2.32	0.28847|0.28847	.|.	.|.	.|.	.|.	.|.	T|.	0.54967|.	0.1891|.	.|.	.|.	.|.	0.35835|0.35835	D|D	0.825599|0.825599	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.60791|.	-0.7193|.	5|.	0.87932|0.87932	D|D	0|0	0.0668|0.0668	5.1103|5.1103	0.14806|0.14806	0.1641:0.6573:0.0:0.1787|0.1641:0.6573:0.0:0.1787	.|.	.|.	.|.	.|.	L|X	271|901	.|.	ENSP00000397788:F271L|ENSP00000401910:S901X	F|S	+|+	3|2	2|0	ECT2|ECT2	174019171|174019171	0.160000|0.160000	0.22878|0.22878	0.433000|0.433000	0.26760|0.26760	0.829000|0.829000	0.46940|0.46940	0.177000|0.177000	0.16801|0.16801	0.257000|0.257000	0.21650|0.21650	0.460000|0.460000	0.39030|0.39030	TTC|TCA	ECT2	-	NULL		0.383	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	HGNC	protein_coding	OTTHUMT00000345994.2	C	NM_018098		172536477	+1	no_errors	ENST00000427830	ensembl	human	known	70_37	nonsense	SNP	0.028	G
EGFL8	80864	genome.wustl.edu	37	6	32134314	32134314	+	Silent	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:32134314C>G	ENST00000395512.1	+	3	246	c.141C>G	c.(139-141)ctC>ctG	p.L47L	EGFL8_ENST00000333845.6_Silent_p.L47L|AGPAT1_ENST00000490711.1_5'Flank|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	47	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TGGTCCCGCTCCACTACAACG	0.602																																																	0													112.0	97.0	102.0					6																	32134314		1511	2709	4220	SO:0001819	synonymous_variant	80864			U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.141C>G	6.37:g.32134314C>G			B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Silent	SNP	pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain	p.L47	ENST00000395512.1	37	c.141	CCDS4743.1	6																																																																																			EGFL8	-	pfam_EMI_domain,pfscan_EMI_domain		0.602	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFL8	HGNC	protein_coding	OTTHUMT00000076463.3	C	NM_030652		32134314	+1	no_errors	ENST00000333845	ensembl	human	known	70_37	silent	SNP	0.997	G
EHD1	10938	genome.wustl.edu	37	11	64627615	64627615	+	Silent	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:64627615C>G	ENST00000320631.3	-	3	950	c.696G>C	c.(694-696)gtG>gtC	p.V232V	EHD1_ENST00000359393.2_Silent_p.V232V	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	232	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GGGCCCCGTACACCCGCATCA	0.597																																																	0													101.0	98.0	99.0					11																	64627615		2201	4297	6498	SO:0001819	synonymous_variant	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.696G>C	11.37:g.64627615C>G			O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.V232	ENST00000320631.3	37	c.696	CCDS8084.1	11																																																																																			EHD1	-	NULL		0.597	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	C	NM_006795		64627615	-1	no_errors	ENST00000320631	ensembl	human	known	70_37	silent	SNP	0.918	G
EIF3G	8666	genome.wustl.edu	37	19	10230348	10230348	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:10230348C>T	ENST00000253108.4	-	2	91	c.49G>A	c.(49-51)Gag>Aag	p.E17K	EIF3G_ENST00000587168.1_5'UTR	NM_003755.3	NP_003746.2			eukaryotic translation initiation factor 3, subunit G											central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCCTCCTCCTCCACCTGGTCG	0.647											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(124;1100 1638 3822 4510 4876)												0													63.0	62.0	63.0					19																	10230348		2203	4300	6503	SO:0001583	missense	8666			U96074	CCDS12227.1	19p13.2	2013-02-12	2007-07-27	2007-07-27		ENSG00000130811		"""RNA binding motif (RRM) containing"""	3274	protein-coding gene	gene with protein product		603913	"""eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa"""	EIF3S4		9822659	Standard	NM_003755		Approved	eIF3-delta, eIF3-p44, eIF3g	uc002mnd.3	O75821		ENST00000253108.4:c.49G>A	19.37:g.10230348C>T	ENSP00000253108:p.Glu17Lys	663		Missense_Mutation	SNP	pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom	p.E17K	ENST00000253108.4	37	c.49	CCDS12227.1	19	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834825	0.71373	.	.	ENSG00000130811	ENST00000253108	T	0.15017	2.46	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	N	0.08118	0	0.58432	D	0.999993	D;D;B	0.89917	1.0;0.993;0.399	D;D;B	0.87578	0.998;0.971;0.14	T	0.27739	-1.0065	10	0.72032	D	0.01	-29.659	15.4691	0.75426	0.0:1.0:0.0:0.0	.	17;17;17	B4DK39;B0AZV5;O75821	.;.;EIF3G_HUMAN	K	17	ENSP00000253108:E17K	ENSP00000253108:E17K	E	-	1	0	EIF3G	10091348	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	4.334000	0.59291	2.528000	0.85240	0.491000	0.48974	GAG	EIF3G	-	pirsf_Transl_init_eIF-3_G		0.647	EIF3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3G	HGNC	protein_coding	OTTHUMT00000451144.1	C			10230348	-1	no_errors	ENST00000253108	ensembl	human	known	70_37	missense	SNP	1.000	T
ENPP2	5168	genome.wustl.edu	37	8	120583068	120583068	+	Silent	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:120583068G>C	ENST00000075322.6	-	20	1852	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L	ENPP2_ENST00000427067.2_Silent_p.L619L|ENPP2_ENST00000522167.1_Silent_p.L233L|ENPP2_ENST00000518109.1_5'Flank|ENPP2_ENST00000522826.1_Silent_p.L623L|ENPP2_ENST00000259486.6_Silent_p.L650L	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	598					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTCGCCCATAGAGGAGGTGTC	0.343																																					Melanoma(20;305 879 2501 4818 31020)												0													45.0	45.0	45.0					8																	120583068		2203	4297	6500	SO:0001819	synonymous_variant	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1794C>G	8.37:g.120583068G>C			A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.L650	ENST00000075322.6	37	c.1950	CCDS34936.1	8																																																																																			ENPP2	-	NULL		0.343	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	G			120583068	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	silent	SNP	0.415	C
RP11-408E5.4	0	genome.wustl.edu	37	13	19761465	19761465	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr13:19761465G>A	ENST00000382988.2	+	3	434	c.239G>A	c.(238-240)tGa>tAa	p.*80*																								CAGGAGAGCTGAAGATCCAAG	0.453																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000382988.2:c.239G>A	13.37:g.19761465G>A				Silent	SNP	NULL	p.*80	ENST00000382988.2	37	c.239		13																																																																																			RP11-408E5.4	-	NULL		0.453	RP11-408E5.4-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000121388	Clone_based_vega_gene	protein_coding	OTTHUMT00000044001.2	G			19761465	+1	no_errors	ENST00000382988	ensembl	human	putative	70_37	silent	SNP	1.000	A
AC119751.2	0	genome.wustl.edu	37	4	49601499	49601499	+	RNA	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr4:49601499G>T	ENST00000408155.1	-	0	0				AC119751.4_ENST00000411167.1_RNA|AC119751.3_ENST00000408407.1_RNA																							ttgtcctgcagatgggattct	0.463																																																	0																																												0																															4.37:g.49601499G>T				RNA	SNP	-	NULL	ENST00000408155.1	37	NULL		4																																																																																			AC119751.4	-	-		0.463	AC119751.2-201	NOVEL	basic	miRNA	ENSG00000223099	Clone_based_ensembl_gene	miRNA		G			49601499	-1	no_errors	ENST00000411167	ensembl	human	novel	70_37	rna	SNP	0.000	T
KIF9	64147	genome.wustl.edu	37	3	47292016	47292016	+	Intron	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:47292016C>A	ENST00000265529.3	-	12	1740				KIF9_ENST00000352910.4_Intron|KIF9_ENST00000487440.1_Intron|KIF9_ENST00000452770.2_Intron|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000335044.2_Intron|snoU13_ENST00000459492.1_RNA			Q9HAQ2	KIF9_HUMAN	kinesin family member 9						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)		TTTTtcagatcagacgggtaa	0.383																																					Colon(44;962 1147 15977 24541)												0													41.0	32.0	35.0					3																	47292016		692	1591	2283	SO:0001627	intron_variant	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.1060-2440G>T	3.37:g.47292016C>A			Q86Z28|Q9H8A4	RNA	SNP	-	NULL	ENST00000265529.3	37	NULL	CCDS2752.1	3																																																																																			snoU13	-	-		0.383	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000239128	RFAM	protein_coding	OTTHUMT00000257475.2	C			47292016	-1	no_errors	ENST00000459492	ensembl	human	novel	70_37	rna	SNP	0.099	A
AC097015.1	0	genome.wustl.edu	37	3	53244060	53244060	+	RNA	SNP	A	A	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:53244060A>T	ENST00000516695.2	-	0	2																											ccaacgtaaTACTATTcttag	0.368																																																	0																																												0																															3.37:g.53244060A>T				RNA	SNP	-	NULL	ENST00000516695.2	37	NULL		3																																																																																			AC097015.1	-	-		0.368	AC097015.1-201	NOVEL	basic	miRNA	ENSG00000252504	Clone_based_ensembl_gene	miRNA		A			53244060	-1	no_errors	ENST00000516695	ensembl	human	novel	70_37	rna	SNP	0.219	T
ATR	545	genome.wustl.edu	37	3	142184160	142184160	+	Intron	SNP	A	A	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:142184160A>C	ENST00000350721.4	-	41	7019				ATR_ENST00000383101.3_Intron|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACCTTGAGTTATGTAAAAAAA	0.239								Other conserved DNA damage response genes																																									0																																										SO:0001627	intron_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6898-78T>G	3.37:g.142184160A>C			Q59HB2|Q7KYL3|Q93051|Q9BXK4	RNA	SNP	-	NULL	ENST00000350721.4	37	NULL	CCDS3124.1	3																																																																																			RP11-383G6.3	-	-		0.239	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000244327	Clone_based_vega_gene	protein_coding	OTTHUMT00000353995.2	A	NM_001184		142184160	-1	no_errors	ENST00000460977	ensembl	human	putative	70_37	rna	SNP	0.429	C
FGFR1	2260	genome.wustl.edu	37	8	38283558	38283558	+	Intron	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:38283558G>A	ENST00000447712.2	-	6	1687				FGFR1_ENST00000532791.1_Intron|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000335922.5_Intron|FGFR1_ENST00000425967.3_Intron|FGFR1_ENST00000397108.4_Intron|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000397113.2_Intron|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000397091.5_Intron|FGFR1_ENST00000356207.5_Intron|RP11-350N15.4_ENST00000528407.1_RNA	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1						angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGCCCCTAAGAAACCTGGAC	0.512		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""				OREG0018722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0																																										SO:0001627	intron_variant	0			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.745+81C>T	8.37:g.38283558G>A		877	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	RNA	SNP	-	NULL	ENST00000447712.2	37	NULL	CCDS6107.2	8																																																																																			RP11-350N15.4	-	-		0.512	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000255201	Clone_based_vega_gene	protein_coding		G			38283558	+1	no_errors	ENST00000528407	ensembl	human	known	70_37	rna	SNP	0.016	A
RP11-700E23.2	0	genome.wustl.edu	37	8	93415807	93415807	+	lincRNA	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:93415807C>T	ENST00000518042.1	-	0	733																											GCCAGGAGCTCTTCCATCGCG	0.463																																																	0																																												0																															8.37:g.93415807C>T				RNA	SNP	-	NULL	ENST00000518042.1	37	NULL		8																																																																																			RP11-700E23.2	-	-		0.463	RP11-700E23.2-001	KNOWN	basic	lincRNA	ENSG00000253682	Clone_based_vega_gene	lincRNA	OTTHUMT00000377509.1	C			93415807	-1	no_errors	ENST00000518042	ensembl	human	known	70_37	rna	SNP	0.009	T
GOLGA6L3	100133220	genome.wustl.edu	37	15	83013957	83013957	+	Missense_Mutation	SNP	T	T	C	rs200323394	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:83013957T>C	ENST00000557886.1	-	6	725	c.626A>G	c.(625-627)cAt>cGt	p.H209R																	endometrium(6)|kidney(5)|prostate(1)	12						CTCCTGTTCATGTAGCCTCTC	0.547																																																	0																																										SO:0001583	missense	0																														ENST00000557886.1:c.626A>G	15.37:g.83013957T>C	ENSP00000452844:p.His209Arg			Missense_Mutation	SNP	NULL	p.H209R	ENST00000557886.1	37	c.626		15																																																																																			RP13-996F3.4	-	NULL		0.547	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000259243	Clone_based_vega_gene	protein_coding	OTTHUMT00000419277.1	T			83013957	-1	no_errors	ENST00000557886	ensembl	human	putative	70_37	missense	SNP	0.831	C
DNM1P47	100216544	genome.wustl.edu	37	15	102294169	102294169	+	RNA	SNP	G	G	A	rs201108210|rs200122083	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:102294169G>A	ENST00000561463.1	+	0	2215									DNM1 pseudogene 47																		ACTCGTGGAGGCGTCGGCAGA	0.617													.|||	792	0.158147	0.1157	0.1671	5008	,	,		34023	0.0308		0.3052	False		,,,				2504	0.1892																0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294169G>A				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.617	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	G	NG_009149		102294169	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	0.994	A
MAMLD1	10046	genome.wustl.edu	37	X	149657845	149657845	+	Intron	SNP	T	T	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:149657845T>C	ENST00000370401.2	+	6	2350				MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000426613.2_Intron|MAMLD1_ENST00000455522.2_Intron|MAMLD1_ENST00000262858.5_Intron|AC109994.1_ENST00000401364.2_RNA			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1						male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ccattaaaagtaatggcaaaa	0.428																																																	0																																										SO:0001627	intron_variant	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.2041-13699T>C	X.37:g.149657845T>C			B2RCQ4|B4DG93|B9EGA5	RNA	SNP	-	NULL	ENST00000370401.2	37	NULL	CCDS14693.2	X																																																																																			AC109994.1	-	-		0.428	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000263713	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000060844.2	T	NM_005491		149657845	-1	no_errors	ENST00000401364	ensembl	human	novel	70_37	rna	SNP	0.010	C
EP300	2033	genome.wustl.edu	37	22	41562645	41562645	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:41562645G>T	ENST00000263253.7	+	23	5068	c.3849G>T	c.(3847-3849)agG>agT	p.R1283S	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1283					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						CACGAACTAGGAAAGAAAATA	0.303			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													68.0	66.0	67.0					22																	41562645		2202	4296	6498	SO:0001583	missense	2033	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.3849G>T	22.37:g.41562645G>T	ENSP00000263253:p.Arg1283Ser		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.R1283S	ENST00000263253.7	37	c.3849	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290129	0.59976	.	.	ENSG00000100393	ENST00000263253	D	0.85171	-1.95	5.85	-0.272	0.12919	.	0.000000	0.53938	D	0.000049	T	0.80138	0.4568	M	0.79805	2.47	0.35934	D	0.832769	P	0.48407	0.91	B	0.38106	0.265	T	0.76798	-0.2826	10	0.52906	T	0.07	-4.0023	5.3834	0.16204	0.3871:0.0:0.4886:0.1243	.	1283	Q09472	EP300_HUMAN	S	1283	ENSP00000263253:R1283S	ENSP00000263253:R1283S	R	+	3	2	EP300	39892591	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	0.587000	0.23909	-0.205000	0.10219	0.491000	0.48974	AGG	EP300	-	superfamily_Znf_FYVE_PHD		0.303	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41562645	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	0.993	T
EP400	57634	genome.wustl.edu	37	12	132472277	132472277	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:132472277G>A	ENST00000333577.4	+	8	2468	c.2359G>A	c.(2359-2361)Gag>Aag	p.E787K	EP400_ENST00000389561.2_Missense_Mutation_p.E751K|EP400_ENST00000389562.2_Missense_Mutation_p.E750K|EP400_ENST00000332482.4_Missense_Mutation_p.E714K|EP400_ENST00000330386.6_Missense_Mutation_p.E751K			Q96L91	EP400_HUMAN	E1A binding protein p400	787					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)		GCGCATTGCGGAGCTGAGGAA	0.582																																																	0													48.0	46.0	46.0					12																	132472277		2203	4300	6503	SO:0001583	missense	57634			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.2359G>A	12.37:g.132472277G>A	ENSP00000333602:p.Glu787Lys		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.E787K	ENST00000333577.4	37	c.2359		12	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718612	0.30503	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.92249	-2.97;-2.96;-2.96;-3.0;-2.95	5.3	5.3	0.74995	.	0.199184	0.51477	D	0.000087	D	0.92639	0.7661	L	0.52905	1.665	0.42367	D	0.992433	P;P;P;P;P	0.45212	0.675;0.675;0.675;0.853;0.787	B;B;B;P;B	0.47430	0.154;0.185;0.154;0.547;0.254	D	0.93338	0.6707	10	0.66056	D	0.02	.	19.3223	0.94246	0.0:0.0:1.0:0.0	.	751;751;750;787;714	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	K	714;787;751;750;714;751;787;751;751	ENSP00000333602:E787K;ENSP00000374212:E751K;ENSP00000374213:E750K;ENSP00000331737:E714K;ENSP00000330620:E751K	ENSP00000330620:E751K	E	+	1	0	EP400	131038230	1.000000	0.71417	0.774000	0.31636	0.003000	0.03518	7.823000	0.86660	2.637000	0.89404	0.563000	0.77884	GAG	EP400	-	NULL		0.582	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		G	NM_015409		132472277	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	1.000	A
EPAS1	2034	genome.wustl.edu	37	2	46602874	46602874	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:46602874C>A	ENST00000263734.3	+	8	1442	c.932C>A	c.(931-933)gCa>gAa	p.A311E		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	311	PAC.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CGGATGCTCGCAAAGCATGGG	0.597																																																	0													120.0	87.0	98.0					2																	46602874		2203	4300	6503	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.932C>A	2.37:g.46602874C>A	ENSP00000263734:p.Ala311Glu		Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.A311E	ENST00000263734.3	37	c.932	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019922	0.93462	.	.	ENSG00000116016	ENST00000263734	T	0.18657	2.2	5.31	5.31	0.75309	PAS fold-3 (1);PAS (1);	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66598	-0.5883	10	0.87932	D	0	.	18.9681	0.92704	0.0:1.0:0.0:0.0	.	311	Q99814	EPAS1_HUMAN	E	311	ENSP00000263734:A311E	ENSP00000263734:A311E	A	+	2	0	EPAS1	46456378	1.000000	0.71417	0.098000	0.21074	0.840000	0.47671	7.814000	0.86154	2.494000	0.84150	0.655000	0.94253	GCA	EPAS1	-	pfam_PAS_fold_3,pfam_PAS_fold,smart_PAC,tigrfam_PAS		0.597	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	C	NM_001430		46602874	+1	no_errors	ENST00000263734	ensembl	human	known	70_37	missense	SNP	1.000	A
EPB41	2035	genome.wustl.edu	37	1	29362374	29362374	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:29362374C>G	ENST00000343067.4	+	10	1529	c.1402C>G	c.(1402-1404)Ccc>Gcc	p.P468A	EPB41_ENST00000373798.1_Missense_Mutation_p.P468A|EPB41_ENST00000373797.1_Missense_Mutation_p.P468A|EPB41_ENST00000373800.3_Missense_Mutation_p.P259A|EPB41_ENST00000398863.2_Missense_Mutation_p.P468A|EPB41_ENST00000356093.2_Missense_Mutation_p.P468A|EPB41_ENST00000347529.3_Missense_Mutation_p.P433A|EPB41_ENST00000349460.4_Missense_Mutation_p.P259A	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	468	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATTCAAACTTCCCAGTTACCG	0.343																																																	0													123.0	119.0	120.0					1																	29362374		2203	4300	6503	SO:0001583	missense	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1402C>G	1.37:g.29362374C>G	ENSP00000345259:p.Pro468Ala		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.P468A	ENST00000343067.4	37	c.1402	CCDS53288.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716095	0.89205	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.58	5.58	0.84498	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88969	0.6582	N	0.17082	0.46	0.80722	D	1	P;B;D;P;P;D;D;D;D;D	0.89917	0.854;0.173;0.992;0.717;0.895;0.99;1.0;0.966;0.996;0.995	P;B;P;P;P;P;D;D;D;D	0.87578	0.476;0.132;0.903;0.519;0.659;0.844;0.998;0.91;0.97;0.924	D	0.90894	0.4763	10	0.87932	D	0	.	18.5585	0.91093	0.0:1.0:0.0:0.0	.	362;468;468;468;468;468;485;433;259;259	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	A	485;468;468;468;362;468;259;259;433;468;468	ENSP00000345259:P468A;ENSP00000348397:P468A;ENSP00000381839:P468A;ENSP00000317597:P259A;ENSP00000362906:P259A;ENSP00000290100:P433A;ENSP00000362904:P468A;ENSP00000362903:P468A	ENSP00000345259:P468A	P	+	1	0	EPB41	29234961	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.617000	0.88574	0.655000	0.94253	CCC	EPB41	-	pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain		0.343	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	C	NM_203342		29362374	+1	no_errors	ENST00000343067	ensembl	human	known	70_37	missense	SNP	1.000	G
EPC1	80314	genome.wustl.edu	37	10	32561068	32561068	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:32561068C>T	ENST00000263062.8	-	13	2229	c.1960G>A	c.(1960-1962)Gct>Act	p.A654T	EPC1_ENST00000319778.6_Missense_Mutation_p.A631T|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000375110.2_Missense_Mutation_p.A581T	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	654					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGTGCACTAGCAGAATCCAAA	0.378																																																	0													60.0	54.0	56.0					10																	32561068		2203	4300	6503	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1960G>A	10.37:g.32561068C>T	ENSP00000263062:p.Ala654Thr		B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.A654T	ENST00000263062.8	37	c.1960	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915828	0.73098	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T	0.18657	2.2;2.2	5.78	4.88	0.63580	.	0.105600	0.64402	D	0.000002	T	0.26774	0.0655	L	0.54323	1.7	0.40123	D	0.976626	B;P;B	0.46327	0.357;0.876;0.0	B;B;B	0.43754	0.314;0.43;0.004	T	0.08006	-1.0743	10	0.87932	D	0	-6.607	15.0864	0.72158	0.0:0.9318:0.0:0.0682	.	581;631;654	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	T	581;631;654	ENSP00000364251:A581T;ENSP00000318559:A631T	ENSP00000263062:A654T	A	-	1	0	EPC1	32601074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.485000	0.81204	1.461000	0.47929	0.460000	0.39030	GCT	EPC1	-	pfam_Enhancer_polycomb_C		0.378	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	C			32561068	-1	no_errors	ENST00000263062	ensembl	human	known	70_37	missense	SNP	1.000	T
EPHB3	2049	genome.wustl.edu	37	3	184295445	184295445	+	Splice_Site	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:184295445G>C	ENST00000330394.2	+	7	1931		c.e7-1		EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGGCATTGCAGAGCGAGGGCA	0.662																																																	0													56.0	61.0	59.0					3																	184295445		2203	4300	6503	SO:0001630	splice_region_variant	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1480-1G>C	3.37:g.184295445G>C			Q7Z740	Splice_Site	SNP	-	e7-1	ENST00000330394.2	37	c.1480-1	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334771	0.60853	.	.	ENSG00000182580	ENST00000330394	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2934	0.90137	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHB3	185778139	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	4.534000	0.60622	2.561000	0.86390	0.448000	0.29417	.	EPHB3	-	-		0.662	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	G	NM_004443	Intron	184295445	+1	no_errors	ENST00000330394	ensembl	human	known	70_37	splice_site	SNP	1.000	C
ERCC2	2068	genome.wustl.edu	37	19	45867377	45867377	+	Splice_Site	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:45867377C>G	ENST00000391945.4	-	10	893	c.816G>C	c.(814-816)agG>agC	p.R272S	ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391940.4_Splice_Site_p.R248S|ERCC2_ENST00000485403.2_Splice_Site_p.R248S|ERCC2_ENST00000391944.3_Splice_Site_p.R194S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	272	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCTCTTTGATCCTGCGGAGAG	0.721			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""		E	0													9.0	12.0	11.0					19																	45867377		2111	4215	6326	SO:0001630	splice_region_variant	2068	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.816-1G>C	19.37:g.45867377C>G			Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	pfam_DUF1227,pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.R272S	ENST00000391945.4	37	c.816	CCDS33049.1	19	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245342	0.39697	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.63417	-0.04;-0.04;-0.04	5.55	2.16	0.27623	Helicase-like, DEXD box c2 type (1);Domain of unknown function DUF1227 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.232964	0.49916	D	0.000122	T	0.53206	0.1782	L	0.52206	1.635	0.80722	D	1	B;B;B	0.23540	0.002;0.087;0.002	B;B;B	0.32928	0.016;0.155;0.016	T	0.51276	-0.8726	10	0.56958	D	0.05	.	4.7711	0.13157	0.1518:0.6075:0.0:0.2407	.	194;248;272	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	S	222;248;272;194;248	ENSP00000375809:R272S;ENSP00000375808:R194S;ENSP00000375804:R248S	ENSP00000375804:R248S	R	-	3	2	ERCC2	50559217	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	1.505000	0.35736	0.677000	0.31305	0.561000	0.74099	AGG	ERCC2	-	pfam_DUF1227,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3		0.721	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC2	HGNC	protein_coding	OTTHUMT00000109626.2	C	NM_000400	Missense_Mutation	45867377	-1	no_errors	ENST00000391945	ensembl	human	known	70_37	missense	SNP	1.000	G
ESRRB	2103	genome.wustl.edu	37	14	76928889	76928889	+	Splice_Site	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr14:76928889G>T	ENST00000509242.1	+	4	497	c.399G>T	c.(397-399)ggG>ggT	p.G133G	ESRRB_ENST00000261532.7_Splice_Site_p.G133G|ESRRB_ENST00000380887.2_Splice_Site_p.G133G|ESRRB_ENST00000556177.1_Splice_Site_p.G133G|ESRRB_ENST00000507951.1_3'UTR	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	133					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGGTTGCAGGGAACATTGAGT	0.622																																																	0													36.0	36.0	36.0					14																	76928889		2203	4300	6503	SO:0001630	splice_region_variant	2103			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.398-1G>T	14.37:g.76928889G>T			A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.G133	ENST00000509242.1	37	c.399	CCDS9850.2	14																																																																																			ESRRB	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.622	ESRRB-003	KNOWN	basic|CCDS	protein_coding	ESRRB	HGNC	protein_coding	OTTHUMT00000360663.1	G		Silent	76928889	+1	no_errors	ENST00000380887	ensembl	human	known	70_37	silent	SNP	0.965	T
ETF1	2107	genome.wustl.edu	37	5	137847214	137847214	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:137847214G>C	ENST00000360541.5	-	7	1033	c.812C>G	c.(811-813)tCt>tGt	p.S271C	ETF1_ENST00000499810.2_Missense_Mutation_p.S238C|ETF1_ENST00000503014.1_Missense_Mutation_p.S257C	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	271					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)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACTTCAGTAGATAACTCAAT	0.318																																																	0													80.0	77.0	78.0					5																	137847214		2202	4300	6502	SO:0001583	missense	2107			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.812C>G	5.37:g.137847214G>C	ENSP00000353741:p.Ser271Cys		B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1	p.S271C	ENST00000360541.5	37	c.812	CCDS4207.1	5	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705663	0.89018	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	T;T;T	0.45276	0.9;0.9;0.9	5.66	5.66	0.87406	eRF1 domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.87758	2.905	0.80722	D	1	D;B;P	0.71674	0.998;0.309;0.478	D;B;B	0.65573	0.936;0.429;0.429	T	0.73509	-0.3960	10	0.56958	D	0.05	-7.7856	19.3346	0.94309	0.0:0.0:1.0:0.0	.	257;238;271	B7Z7P8;Q96CG1;P62495	.;.;ERF1_HUMAN	C	238;271;257	ENSP00000421288:S238C;ENSP00000353741:S271C;ENSP00000422203:S257C	ENSP00000353741:S271C	S	-	2	0	ETF1	137875113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.756000	0.98918	2.669000	0.90835	0.655000	0.94253	TCT	ETF1	-	pfam_eRF1_2,tigrfam_Peptide_chain-rel_eRF1/aRF1		0.318	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETF1	HGNC	protein_coding	OTTHUMT00000251276.2	G	NM_004730		137847214	-1	no_errors	ENST00000360541	ensembl	human	known	70_37	missense	SNP	1.000	C
EVI5L	115704	genome.wustl.edu	37	19	7925449	7925449	+	Missense_Mutation	SNP	G	G	C	rs377458138		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:7925449G>C	ENST00000270530.4	+	13	1540	c.1344G>C	c.(1342-1344)gaG>gaC	p.E448D	EVI5L_ENST00000538904.2_Missense_Mutation_p.E459D	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	448					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E448D(1)		breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						TCCCCCAGGAGAACCCCCGCC	0.692																																																	1	Substitution - Missense(1)	lung(1)											22.0	20.0	21.0					19																	7925449		2197	4293	6490	SO:0001583	missense	115704			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1344G>C	19.37:g.7925449G>C	ENSP00000270530:p.Glu448Asp		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E459D	ENST00000270530.4	37	c.1377	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	G	8.575	0.880908	0.17467	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	D;T	0.97256	-4.31;3.38	4.44	-8.88	0.00789	.	1.047180	0.07433	N	0.896027	D	0.91848	0.7420	L	0.46157	1.445	0.22112	N	0.999358	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.80643	-0.1291	10	0.19590	T	0.45	-5.9309	5.1955	0.15233	0.0872:0.3589:0.4242:0.1296	.	459;448	B9A6I9;Q96CN4	.;EVI5L_HUMAN	D	448;459	ENSP00000270530:E448D;ENSP00000445905:E459D	ENSP00000270530:E448D	E	+	3	2	EVI5L	7831449	0.057000	0.20700	0.838000	0.33150	0.479000	0.33129	-1.774000	0.01784	-1.677000	0.01455	-0.304000	0.09214	GAG	EVI5L	-	NULL		0.692	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	G	NM_145245		7925449	+1	no_errors	ENST00000538904	ensembl	human	known	70_37	missense	SNP	0.305	C
F5	2153	genome.wustl.edu	37	1	169510846	169510846	+	Missense_Mutation	SNP	C	C	A	rs368369078		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:169510846C>A	ENST00000367797.3	-	13	3683	c.3482G>T	c.(3481-3483)cGa>cTa	p.R1161L	F5_ENST00000367796.3_Missense_Mutation_p.R1166L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1161	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTTGTGACTTCGGTCATACTC	0.488																																																	0													191.0	196.0	195.0					1																	169510846		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3482G>T	1.37:g.169510846C>A	ENSP00000356771:p.Arg1161Leu		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R1166L	ENST00000367797.3	37	c.3497	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	2.644	-0.283556	0.05642	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.18657	2.2;2.2	4.07	-0.937	0.10415	.	0.915544	0.09172	N	0.838662	T	0.01287	0.0042	N	0.00841	-1.15	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	9	0.28530	T	0.3	-0.8739	0.9435	0.01360	0.3271:0.3318:0.1855:0.1556	.	1161	P12259	FA5_HUMAN	L	1161;1166	ENSP00000356771:R1161L;ENSP00000356770:R1166L	ENSP00000356770:R1166L	R	-	2	0	F5	167777470	0.040000	0.19996	0.011000	0.14972	0.002000	0.02628	-0.310000	0.08135	-0.162000	0.10964	-1.171000	0.01739	CGA	F5	-	NULL		0.488	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	C	NM_000130		169510846	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	missense	SNP	0.108	A
FAIM3	9214	genome.wustl.edu	37	1	207083082	207083082	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:207083082C>T	ENST00000367091.3	-	6	1116	c.973G>A	c.(973-975)Gcg>Acg	p.A325T	FAIM3_ENST00000442471.2_Missense_Mutation_p.A213T|FAIM3_ENST00000420007.2_Missense_Mutation_p.S281N|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	325					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GCAGCGTCCGCTCCACGAGCG	0.751																																																	0													2.0	2.0	2.0					1																	207083082		1355	3030	4385	SO:0001583	missense	9214			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.973G>A	1.37:g.207083082C>T	ENSP00000356058:p.Ala325Thr		A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub	p.A325T	ENST00000367091.3	37	c.973	CCDS1473.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.742|2.742	-0.261978|-0.261978	0.05791|0.05791	.|.	.|.	ENSG00000162894|ENSG00000162894	ENST00000367091;ENST00000442471|ENST00000420007	T|T	0.25749|0.23950	1.78|1.88	4.03|4.03	-0.514|-0.514	0.11958|0.11958	.|.	1.875980|.	0.02896|.	N|.	0.134773|.	T|T	0.23370|0.23370	0.0565|0.0565	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;B;B|.	0.32829|.	0.386;0.386;0.267|.	B;B;B|.	0.28139|.	0.086;0.086;0.039|.	T|T	0.29427|0.29427	-1.0012|-1.0012	10|7	0.52906|0.54805	T|T	0.07|0.06	0.0406|0.0406	6.86|6.86	0.24062|0.24062	0.2045:0.2574:0.5382:0.0|0.2045:0.2574:0.5382:0.0	.|.	234;213;325|.	B7Z497;B7Z6Z0;O60667|.	.;.;FAIM3_HUMAN|.	T|N	325;213|281	ENSP00000356058:A325T|ENSP00000403356:S281N	ENSP00000356058:A325T|ENSP00000403356:S281N	A|S	-|-	1|2	0|0	FAIM3|FAIM3	205149705|205149705	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.069000|0.069000	0.16628|0.16628	0.016000|0.016000	0.13377|0.13377	0.021000|0.021000	0.15133|0.15133	0.561000|0.561000	0.74099|0.74099	GCG|AGC	FAIM3	-	NULL		0.751	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM3	HGNC	protein_coding	OTTHUMT00000088677.1	C	NM_005449		207083082	-1	no_errors	ENST00000367091	ensembl	human	known	70_37	missense	SNP	0.000	T
MVB12B	89853	genome.wustl.edu	37	9	129157918	129157918	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:129157918C>G	ENST00000361171.3	+	6	685	c.604C>G	c.(604-606)Caa>Gaa	p.Q202E	MVB12B_ENST00000436593.3_Missense_Mutation_p.Q187E|MVB12B_ENST00000535766.1_Missense_Mutation_p.Q195E|MVB12B_ENST00000545391.1_Missense_Mutation_p.Q202E	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	202					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)	p.Q202*(1)									TGACTCATCTCAACCCACAAC	0.522																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											196.0	170.0	179.0					9																	129157918		2203	4300	6503	SO:0001583	missense	89853			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.604C>G	9.37:g.129157918C>G	ENSP00000354772:p.Gln202Glu		Q8N6S7	Missense_Mutation	SNP	pfam_FAM125	p.Q202E	ENST00000361171.3	37	c.604	CCDS35142.1	9	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416091	0.42817	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.69	5.69	0.88448	.	0.364025	0.31922	N	0.006844	T	0.42653	0.1212	M	0.66939	2.045	0.31836	N	0.624071	B;B;B;B	0.18461	0.028;0.001;0.028;0.002	B;B;B;B	0.20767	0.031;0.002;0.031;0.003	T	0.45702	-0.9243	10	0.19590	T	0.45	-0.6583	15.3042	0.73979	0.0:0.8606:0.1394:0.0	.	195;187;71;202	B7Z4X0;B7Z1P9;Q9H7N7;Q9H7P6	.;.;.;F125B_HUMAN	E	202;202;187;187;195	ENSP00000354772:Q202E;ENSP00000441988:Q202E;ENSP00000384751:Q187E;ENSP00000401379:Q187E;ENSP00000442846:Q195E	ENSP00000354772:Q202E	Q	+	1	0	FAM125B	128197739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.222000	0.58580	2.676000	0.91093	0.655000	0.94253	CAA	FAM125B	-	pfam_FAM125		0.522	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM125B	HGNC	protein_coding	OTTHUMT00000054110.1	C	XM_088525		129157918	+1	no_errors	ENST00000361171	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM135B	51059	genome.wustl.edu	37	8	139160891	139160891	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:139160891T>A	ENST00000395297.1	-	14	3490	c.3320A>T	c.(3319-3321)aAg>aTg	p.K1107M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1107										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCTTCAATCTTCAGTTCTTT	0.353										HNSCC(54;0.14)																																							0													59.0	57.0	58.0					8																	139160891		2203	4300	6503	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3320A>T	8.37:g.139160891T>A	ENSP00000378710:p.Lys1107Met		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.K1107M	ENST00000395297.1	37	c.3320	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	T	18.98	3.738444	0.69304	.	.	ENSG00000147724	ENST00000395297	T	0.17213	2.29	5.78	5.78	0.91487	.	0.102594	0.64402	D	0.000002	T	0.43277	0.1240	M	0.76328	2.33	0.48185	D	0.9996	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.956	T	0.39231	-0.9624	10	0.87932	D	0	-32.2128	15.2978	0.73922	0.0:0.0:0.0:1.0	.	1107;1107	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	M	1107	ENSP00000378710:K1107M	ENSP00000378710:K1107M	K	-	2	0	FAM135B	139230073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.253000	0.51469	2.204000	0.70986	0.528000	0.53228	AAG	FAM135B	-	NULL		0.353	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	T	NM_015912		139160891	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM47C	442444	genome.wustl.edu	37	X	37027105	37027105	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:37027105T>A	ENST00000358047.3	+	1	674	c.622T>A	c.(622-624)Tcc>Acc	p.S208T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	208										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GACTCCGGTGTCCAGTCTCCG	0.652																																																	0													28.0	30.0	30.0					X																	37027105		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.622T>A	X.37:g.37027105T>A	ENSP00000367913:p.Ser208Thr		Q6ZU46	Missense_Mutation	SNP	NULL	p.S208T	ENST00000358047.3	37	c.622	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	T	8.235	0.805537	0.16467	.	.	ENSG00000198173	ENST00000358047	T	0.19250	2.16	1.01	-0.267	0.12938	.	.	.	.	.	T	0.16938	0.0407	M	0.69823	2.125	0.09310	N	1	D	0.55172	0.97	B	0.40444	0.329	T	0.20974	-1.0259	9	0.19590	T	0.45	.	2.5909	0.04842	0.0:0.453:0.0:0.5469	.	208	Q5HY64	FA47C_HUMAN	T	208	ENSP00000367913:S208T	ENSP00000367913:S208T	S	+	1	0	FAM47C	36937026	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.299000	0.08254	0.232000	0.21100	0.229000	0.17801	TCC	FAM47C	-	NULL		0.652	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	T	NM_001013736		37027105	+1	no_errors	ENST00000358047	ensembl	human	known	70_37	missense	SNP	0.001	A
FAT3	120114	genome.wustl.edu	37	11	92087287	92087287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:92087287C>A	ENST00000298047.6	+	1	2026	c.2009C>A	c.(2008-2010)tCa>tAa	p.S670*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.S670*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.S670*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.S520*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	670	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTAACATTTCAGTCCTACAT	0.403										TCGA Ovarian(4;0.039)																																							0													71.0	69.0	69.0					11																	92087287		1837	4090	5927	SO:0001587	stop_gained	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2009C>A	11.37:g.92087287C>A	ENSP00000298047:p.Ser670*		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S670*	ENST00000298047.6	37	c.2009		11	.	.	.	.	.	.	.	.	.	.	C	39	7.538165	0.98345	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	18.5401	0.91024	0.0:1.0:0.0:0.0	.	.	.	.	X	670;670;670;520	.	ENSP00000298047:S670X	S	+	2	0	FAT3	91726935	1.000000	0.71417	0.940000	0.37924	0.820000	0.46376	7.755000	0.85180	2.623000	0.88846	0.467000	0.42956	TCA	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		C	NM_001008781		92087287	+1	no_errors	ENST00000298047	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FAT4	79633	genome.wustl.edu	37	4	126371575	126371575	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr4:126371575G>T	ENST00000394329.3	+	9	9417	c.9404G>T	c.(9403-9405)gGc>gTc	p.G3135V	FAT4_ENST00000335110.5_Missense_Mutation_p.G1433V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3135	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATGAAGAAGGCATTTTTGCA	0.383																																																	0													67.0	68.0	67.0					4																	126371575		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9404G>T	4.37:g.126371575G>T	ENSP00000377862:p.Gly3135Val		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G3135V	ENST00000394329.3	37	c.9404	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080100	0.55753	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.63744	-0.06;-0.06	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.35067	U	0.003472	T	0.80889	0.4710	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.939;0.999;1.0	T	0.78750	-0.2082	10	0.34782	T	0.22	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	1433;3135;3135	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3135;1433	ENSP00000377862:G3135V;ENSP00000335169:G1433V	ENSP00000335169:G1433V	G	+	2	0	FAT4	126591025	1.000000	0.71417	0.914000	0.36105	0.634000	0.38068	7.823000	0.86660	2.652000	0.90054	0.655000	0.94253	GGC	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126371575	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	1.000	T
FDPS	2224	genome.wustl.edu	37	1	155288073	155288073	+	Silent	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:155288073C>G	ENST00000356657.6	+	6	837	c.675C>G	c.(673-675)ctC>ctG	p.L225L	FDPS_ENST00000447866.1_Silent_p.L159L|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000368356.4_Silent_p.L225L	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	225					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TGATCGAGCTCTTCCTGCAGG	0.542																																																	0													70.0	65.0	67.0					1																	155288073		2203	4300	6503	SO:0001819	synonymous_variant	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.675C>G	1.37:g.155288073C>G			D3DV91|E9PCI9|Q96G29	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.L225	ENST00000356657.6	37	c.675	CCDS1110.1	1																																																																																			FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth		0.542	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	C	NM_002004		155288073	+1	no_errors	ENST00000356657	ensembl	human	known	70_37	silent	SNP	0.995	G
FCER1G	2207	genome.wustl.edu	37	1	161187833	161187833	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:161187833G>A	ENST00000289902.1	+	2	132	c.107G>A	c.(106-108)gGa>gAa	p.G36E	AL590714.1_ENST00000594609.1_5'Flank|FCER1G_ENST00000367992.3_Missense_Mutation_p.G36E|FCER1G_ENST00000490414.1_Intron	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	36					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 II (GO:0019886)|blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|negative regulation of mast cell apoptotic process (GO:0033026)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|phagocytosis, engulfment (GO:0006911)|platelet activation (GO:0030168)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I hypersensitivity (GO:0001812)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|protein localization to plasma membrane (GO:0072659)|regulation of platelet activation (GO:0010543)|serotonin secretion by platelet (GO:0002554)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	TTTCTGTATGGAATTGTCCTC	0.597																																																	0													181.0	166.0	171.0					1																	161187833		2203	4300	6503	SO:0001583	missense	2207				CCDS1225.1	1q23	2008-02-05			ENSG00000158869	ENSG00000158869			3611	protein-coding gene	gene with protein product		147139				2138619	Standard	NM_004106		Approved		uc001fyz.1	P30273	OTTHUMG00000034343	ENST00000289902.1:c.107G>A	1.37:g.161187833G>A	ENSP00000289902:p.Gly36Glu		Q5VTW4	Missense_Mutation	SNP	pfam_CR3_zeta/IgE_Fc_rcpt_gamma	p.G36E	ENST00000289902.1	37	c.107	CCDS1225.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504236	0.85176	.	.	ENSG00000158869	ENST00000367992;ENST00000289902	T	0.49720	0.77	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	T	0.64527	0.2606	.	.	.	0.38117	D	0.937758	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68800	-0.5313	8	0.87932	D	0	.	15.5631	0.76266	0.0:0.0:1.0:0.0	.	36;36	A6NCQ8;P30273	.;FCERG_HUMAN	E	36	ENSP00000356971:G36E	ENSP00000289902:G36E	G	+	2	0	FCER1G	159454457	1.000000	0.71417	0.622000	0.29159	0.809000	0.45718	7.718000	0.84743	2.735000	0.93741	0.655000	0.94253	GGA	FCER1G	-	pfam_CR3_zeta/IgE_Fc_rcpt_gamma		0.597	FCER1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCER1G	HGNC	protein_coding	OTTHUMT00000083012.1	G	NM_004106		161187833	+1	no_errors	ENST00000367992	ensembl	human	known	70_37	missense	SNP	0.999	A
FLJ22763	401081	genome.wustl.edu	37	3	108868763	108868763	+	lincRNA	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:108868763A>G	ENST00000467240.1	+	0	1745					NR_033977.1																						TGGTTAAAGCAGGAGGATGAA	0.378																																																	0																																												401081																															3.37:g.108868763A>G				RNA	SNP	-	NULL	ENST00000467240.1	37	NULL		3																																																																																			RP11-59E19.1	-	-		0.378	RP11-59E19.1-001	KNOWN	basic	lincRNA	FLJ22763	Clone_based_vega_gene	lincRNA	OTTHUMT00000353832.1	A			108868763	+1	no_errors	ENST00000467240	ensembl	human	known	70_37	rna	SNP	0.006	G
FN1	2335	genome.wustl.edu	37	2	216226710	216226710	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:216226710G>A	ENST00000359671.1	-	44	7336	c.7071C>T	c.(7069-7071)taC>taT	p.Y2357Y	FN1_ENST00000336916.4_Silent_p.Y2326Y|FN1_ENST00000356005.4_Silent_p.Y2267Y|FN1_ENST00000354785.4_Silent_p.Y2448Y|FN1_ENST00000323926.6_Silent_p.Y2417Y|FN1_ENST00000432072.2_Silent_p.Y2238Y|FN1_ENST00000346544.3_Silent_p.Y2182Y|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000345488.5_Silent_p.Y2155Y|FN1_ENST00000357867.4_Silent_p.Y2147Y|FN1_ENST00000446046.1_Silent_p.Y2301Y|FN1_ENST00000443816.1_Silent_p.Y2236Y|FN1_ENST00000421182.1_Silent_p.Y2211Y			P02751	FINC_HUMAN	fibronectin 1	2357					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TTCTCTGATGGTATCTCTGAG	0.498																																																	0													141.0	125.0	130.0					2																	216226710		2203	4300	6503	SO:0001819	synonymous_variant	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.7071C>T	2.37:g.216226710G>A			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.Y2448	ENST00000359671.1	37	c.7344		2																																																																																			FN1	-	NULL		0.498	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		G	NM_212476		216226710	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	silent	SNP	1.000	A
FN1	2335	genome.wustl.edu	37	2	216239952	216239952	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:216239952C>T	ENST00000359671.1	-	37	6134	c.5869G>A	c.(5869-5871)Gag>Aag	p.E1957K	FN1_ENST00000336916.4_Missense_Mutation_p.E1957K|FN1_ENST00000356005.4_Missense_Mutation_p.E1867K|FN1_ENST00000354785.4_Missense_Mutation_p.E2048K|FN1_ENST00000323926.6_Missense_Mutation_p.E2048K|FN1_ENST00000432072.2_Missense_Mutation_p.E1958K|FN1_ENST00000346544.3_Missense_Mutation_p.E1957K|FN1_ENST00000357009.2_Missense_Mutation_p.E1957K|FN1_ENST00000345488.5_Missense_Mutation_p.E1957K|FN1_ENST00000357867.4_Missense_Mutation_p.E1867K|FN1_ENST00000446046.1_Missense_Mutation_p.E1957K|FN1_ENST00000443816.1_Missense_Mutation_p.E1867K|FN1_ENST00000421182.1_Missense_Mutation_p.E1867K			P02751	FINC_HUMAN	fibronectin 1	1957	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATAGTAGCCTCTGTGACACCA	0.527																																																	0													82.0	87.0	85.0					2																	216239952		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5869G>A	2.37:g.216239952C>T	ENSP00000352696:p.Glu1957Lys		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.E2048K	ENST00000359671.1	37	c.6142		2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564943	0.65651	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.66157	0.2761	L	0.37697	1.125	0.26627	N	0.972536	P;D;D;P;P;D;D;P;D;D;D;D;D	0.71674	0.864;0.968;0.982;0.825;0.53;0.982;0.998;0.658;0.986;0.982;0.982;0.994;0.998	D;D;D;P;P;D;D;P;D;D;D;D;D	0.87578	0.918;0.991;0.991;0.57;0.531;0.991;0.998;0.531;0.995;0.991;0.991;0.996;0.998	T	0.61983	-0.6950	10	0.66056	D	0.02	.	19.3625	0.94446	0.0:1.0:0.0:0.0	.	1748;1957;1958;2048;1867;1867;1957;1957;1958;1867;1867;2048;1957	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	K	1867;2048;1957;1867;2048;1958;1957;1957;1957;1957;1957;1867;1958;1867;674;76	ENSP00000394423:E1867K;ENSP00000323534:E2048K;ENSP00000338200:E1957K;ENSP00000350534:E1867K;ENSP00000346839:E2048K;ENSP00000352696:E1957K;ENSP00000265312:E1957K;ENSP00000273049:E1957K;ENSP00000349509:E1957K;ENSP00000410422:E1957K;ENSP00000415018:E1867K;ENSP00000399538:E1958K;ENSP00000348285:E1867K;ENSP00000416139:E674K;ENSP00000392565:E76K	ENSP00000265313:E1958K	E	-	1	0	FN1	215948197	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.050000	0.64251	2.560000	0.86352	0.563000	0.77884	GAG	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		C	NM_212476		216239952	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	missense	SNP	0.999	T
FNDC7	163479	genome.wustl.edu	37	1	109284418	109284418	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:109284418G>A	ENST00000370017.3	+	12	2471	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K	FNDC7_ENST00000271311.2_Missense_Mutation_p.E733K	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	732						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GAAGAGAAATGAAGAATGACA	0.348																																																	0													85.0	80.0	82.0					1																	109284418		2203	4300	6503	SO:0001583	missense	163479				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2194G>A	1.37:g.109284418G>A	ENSP00000359034:p.Glu732Lys		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E733K	ENST00000370017.3	37	c.2197	CCDS44185.1	1	.	.	.	.	.	.	.	.	.	.	G	8.922	0.961357	0.18583	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.26067	2.02;1.76	4.42	1.44	0.22558	.	1.490600	0.03941	N	0.286838	T	0.04227	0.0117	N	0.08118	0	0.22330	N	0.999195	B;B	0.14012	0.001;0.009	B;B	0.06405	0.002;0.002	T	0.31641	-0.9936	10	0.32370	T	0.25	1.5606	6.3705	0.21479	0.1668:0.1631:0.67:0.0	.	733;732	Q5VTL7;E9PAZ5	FNDC7_HUMAN;.	K	732;733	ENSP00000359034:E732K;ENSP00000271311:E733K	ENSP00000271311:E733K	E	+	1	0	FNDC7	109085941	1.000000	0.71417	0.508000	0.27688	0.402000	0.30811	3.136000	0.50554	0.209000	0.20645	-0.211000	0.12701	GAA	FNDC7	-	NULL		0.348	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	HGNC	protein_coding	OTTHUMT00000030589.4	G	NM_173532		109284418	+1	no_errors	ENST00000271311	ensembl	human	known	70_37	missense	SNP	0.995	A
FOXI3	344167	genome.wustl.edu	37	2	88748104	88748104	+	RNA	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:88748104C>G	ENST00000398142.3	-	0	961							A8MTJ6	FOXI3_HUMAN	forkhead box I3						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)	2						AGGCAGTACTCTTGGTGCCCT	0.597																																					Pancreas(81;472 1448 16397 17495 22123)												0													10.0	13.0	12.0					2																	88748104		692	1590	2282			344167			BN001221, BN001222		2p11.2	2008-12-18				ENSG00000214336			35123	protein-coding gene	gene with protein product		612351				18787161	Standard	NM_001135649		Approved		uc010ytq.1	A8MTJ6			2.37:g.88748104C>G			B5RI09	RNA	SNP	-	NULL	ENST00000398142.3	37	NULL		2																																																																																			FOXI3	-	-		0.597	FOXI3-001	KNOWN	sequence_error|basic	processed_transcript	FOXI3	HGNC	processed_transcript	OTTHUMT00000338241.2	C	NM_001135649		88748104	-1	no_errors	ENST00000398142	ensembl	human	known	70_37	rna	SNP	0.015	G
FRG1B	284802	genome.wustl.edu	37	20	29614296	29614297	+	5'UTR	INS	-	-	AGA	rs376619640		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:29614296_29614297insAGA	ENST00000278882.3	+	0	289_290				FRG1B_ENST00000358464.4_5'UTR|FRG1B_ENST00000439954.2_5'UTR			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						aagagaaaaagagaagatgaag	0.292																																																	0																																										SO:0001623	5_prime_UTR_variant	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-91->AGA	20.37:g.29614300_29614302dupAGA			C4AME5	RNA	INS	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			FRG1B	-	-		0.292	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	-	NR_003579		29614297	+1	no_errors	ENST00000482423	ensembl	human	known	70_37	rna	INS	0.998:0.997	AGA
FUT5	2527	genome.wustl.edu	37	19	5867194	5867194	+	Silent	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:5867194G>T	ENST00000588525.1	-	2	630	c.543C>A	c.(541-543)ccC>ccA	p.P181P	FUT5_ENST00000252675.5_Silent_p.P181P	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	181					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	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)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GCCAGCCGTAGGGCGTGAAGA	0.652																																																	0													29.0	25.0	26.0					19																	5867194		2187	4278	6465	SO:0001819	synonymous_variant	2527				CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.543C>A	19.37:g.5867194G>T			A8K4X2	Silent	SNP	pfam_Glyco_trans_10	p.P181	ENST00000588525.1	37	c.543	CCDS12154.1	19																																																																																			FUT5	-	pfam_Glyco_trans_10		0.652	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT5	HGNC	protein_coding	OTTHUMT00000452213.1	G	NM_002034		5867194	-1	no_errors	ENST00000252675	ensembl	human	known	70_37	silent	SNP	0.998	T
FUT9	10690	genome.wustl.edu	37	6	96651604	96651604	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:96651604G>C	ENST00000302103.5	+	3	899	c.573G>C	c.(571-573)tgG>tgC	p.W191C		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	191					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGGTGTGCTGGGTTGTGAGTA	0.453																																					Melanoma(98;1369 1476 6592 22940 26587)												0													70.0	65.0	66.0					6																	96651604		2203	4300	6503	SO:0001583	missense	10690			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.573G>C	6.37:g.96651604G>C	ENSP00000302599:p.Trp191Cys		Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.W191C	ENST00000302103.5	37	c.573	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354625	0.61293	.	.	ENSG00000172461	ENST00000302103	T	0.35236	1.32	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80160	-0.1498	10	0.87932	D	0	-5.6969	18.602	0.91250	0.0:0.0:1.0:0.0	.	191	Q9Y231	FUT9_HUMAN	C	191	ENSP00000302599:W191C	ENSP00000302599:W191C	W	+	3	0	FUT9	96758325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.643000	0.89663	0.655000	0.94253	TGG	FUT9	-	pfam_Glyco_trans_10		0.453	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2	G	NM_006581		96651604	+1	no_errors	ENST00000302103	ensembl	human	known	70_37	missense	SNP	1.000	C
FZD5	7855	genome.wustl.edu	37	2	208633032	208633032	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:208633032C>T	ENST00000295417.3	-	2	985	c.432G>A	c.(430-432)gaG>gaA	p.E144E		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	144	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGCAGAGGACCTCGGCGTCGC	0.741																																																	0													4.0	5.0	5.0					2																	208633032		1914	3887	5801	SO:0001819	synonymous_variant	7855			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.432G>A	2.37:g.208633032C>T			A8K2X1|B2RCZ1|Q53R22	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.E144	ENST00000295417.3	37	c.432	CCDS33366.1	2																																																																																			FZD5	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.741	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	HGNC	protein_coding	OTTHUMT00000337060.1	C	NM_003468		208633032	-1	no_errors	ENST00000295417	ensembl	human	known	70_37	silent	SNP	0.837	T
GALNT7	51809	genome.wustl.edu	37	4	174223308	174223308	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr4:174223308C>T	ENST00000265000.4	+	7	1342	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	420	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TTTGAGATCTCATACAAGGTA	0.403																																																	0													172.0	180.0	177.0					4																	174223308		2203	4300	6503	SO:0001583	missense	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1259C>T	4.37:g.174223308C>T	ENSP00000265000:p.Ser420Leu		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S420L	ENST00000265000.4	37	c.1259	CCDS3815.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.504379|5.504379	0.96371|0.96371	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000505308;ENST00000458613|ENST00000265000	.|D	.|0.81659	.|-1.52	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93884|0.93884	0.8043|0.8043	H|H	0.96805|0.96805	3.885|3.885	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95031|0.95031	0.8169|0.8169	6|10	0.87932|0.87932	D|D	0|0	.|.	20.4239|20.4239	0.99064|0.99064	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|420	.|Q86SF2	.|GALT7_HUMAN	Y|L	217;197|420	.|ENSP00000265000:S420L	ENSP00000394985:H197Y|ENSP00000265000:S420L	H|S	+|+	1|2	0|0	GALNT7|GALNT7	174459883|174459883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.757000|7.757000	0.85209|0.85209	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	CAT|TCA	GALNT7	-	NULL		0.403	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	C	NM_017423		174223308	+1	no_errors	ENST00000265000	ensembl	human	known	70_37	missense	SNP	1.000	T
GALNT15	117248	genome.wustl.edu	37	3	16216965	16216966	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:16216965_16216966CA>AG	ENST00000339732.5	+	1	810_811	c.307_308CA>AG	c.(307-309)CAg>AGg	p.Q103R	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.Q103R	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	103					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)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGCCTTACCCCAGGCCAGAAGG	0.624																																																	0																																										SO:0001583	missense	117248			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	Exception_encountered	3.37:g.16216965_16216966delinsAG	ENSP00000344260:p.Gln103Arg		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Q103K|p.Q103R	ENST00000339732.5	37	c.307|c.308	CCDS33711.1	3																																																																																			GALNTL2	-	NULL		0.624	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL2	HGNC	protein_coding	OTTHUMT00000346483.2	C|A	NM_054110		16216965|16216966	+1	no_errors	ENST00000339732	ensembl	human	known	70_37	missense	SNP	0.989|0.988	A|G
GCC2	9648	genome.wustl.edu	37	2	109098845	109098845	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:109098845G>C	ENST00000309863.6	+	11	3997	c.3283G>C	c.(3283-3285)Gcc>Ccc	p.A1095P		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1095					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGTCCAGAGAGCCAAAGCAAT	0.323																																																	0													57.0	59.0	59.0					2																	109098845		2203	4296	6499	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3283G>C	2.37:g.109098845G>C	ENSP00000307939:p.Ala1095Pro		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.A1095P	ENST00000309863.6	37	c.3283	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517577	0.44763	.	.	ENSG00000135968	ENST00000309863	T	0.34275	1.37	5.32	2.55	0.30701	.	0.361847	0.27491	N	0.019137	T	0.31389	0.0795	L	0.57536	1.79	0.26495	N	0.974863	B	0.31009	0.303	B	0.31547	0.132	T	0.15235	-1.0444	10	0.31617	T	0.26	.	8.7243	0.34460	0.2356:0.0:0.7644:0.0	.	1095	Q8IWJ2	GCC2_HUMAN	P	1095	ENSP00000307939:A1095P	ENSP00000307939:A1095P	A	+	1	0	GCC2	108465277	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.068000	0.50018	0.635000	0.30488	-0.439000	0.05793	GCC	GCC2	-	NULL		0.323	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	G	NM_014635		109098845	+1	no_errors	ENST00000309863	ensembl	human	known	70_37	missense	SNP	0.998	C
GEMIN4	50628	genome.wustl.edu	37	17	649191	649191	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:649191G>T	ENST00000319004.5	-	2	2210	c.2092C>A	c.(2092-2094)Ctc>Atc	p.L698I	GEMIN4_ENST00000576778.1_Missense_Mutation_p.L687I	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	698					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AAGCTGAAGAGGAGTGGAAAC	0.542																																																	0													32.0	34.0	33.0					17																	649191		1957	4149	6106	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2092C>A	17.37:g.649191G>T	ENSP00000321706:p.Leu698Ile		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	NULL	p.L698I	ENST00000319004.5	37	c.2092	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	G	8.250	0.808712	0.16467	.	.	ENSG00000179409	ENST00000319004	T	0.08370	3.1	5.56	-1.97	0.07503	.	0.280120	0.33515	N	0.004840	T	0.03915	0.0110	N	0.10685	0.025	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.43877	-0.9364	10	0.25751	T	0.34	-4.3379	12.5458	0.56199	0.0:0.0742:0.6021:0.3237	.	698	P57678	GEMI4_HUMAN	I	698	ENSP00000321706:L698I	ENSP00000321706:L698I	L	-	1	0	GEMIN4	595941	1.000000	0.71417	0.979000	0.43373	0.846000	0.48090	0.514000	0.22786	-0.262000	0.09392	-0.271000	0.10264	CTC	GEMIN4	-	NULL		0.542	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	G	NM_015721		649191	-1	no_errors	ENST00000319004	ensembl	human	known	70_37	missense	SNP	0.915	T
GJD3	125111	genome.wustl.edu	37	17	38517354	38517354	+	IGR	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:38517354G>C	ENST00000578689.1	-	0	885				GJD3_ENST00000337376.4_Missense_Mutation_p.Q258E|CTD-2267D19.3_ENST00000578774.1_Missense_Mutation_p.L37F	NM_152219.3	NP_689343.3	Q8N144	CXD3_HUMAN	gap junction protein, delta 3, 31.9kDa						cell communication (GO:0007154)|gap junction assembly (GO:0016264)	cell surface (GO:0009986)|connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)						Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)			CCCTCTCCTTGAAGGTGTCTG	0.572																																																	0																																										SO:0001628	intergenic_variant	125111			AF514298	CCDS58547.1	17q21.1	2012-04-19	2007-11-06	2007-11-06	ENSG00000183153	ENSG00000183153		"""Ion channels / Gap junction proteins (connexins)"""	19147	protein-coding gene	gene with protein product	"""connexin 31.9"""	607425	"""gap junction protein, chi 1, 31.9kDa"""	GJC1		12176752	Standard	NM_152219		Approved	CX31.9, GJA11, Cx30.2	uc010cwz.3	Q8N144			17.37:g.38517354G>C			Q6ZUW6	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.Q258E	ENST00000578689.1	37	c.772	CCDS58547.1	17	.	.	.	.	.	.	.	.	.	.	G	2.032	-0.422208	0.04734	.	.	ENSG00000183153	ENST00000337376	T	0.06768	3.26	1.15	0.0754	0.14399	.	3.346870	0.01621	U	0.023005	T	0.02767	0.0083	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36407	-0.9749	7	0.02654	T	1	.	3.6318	0.08134	0.2769:0.0:0.7231:0.0	.	.	.	.	E	258	ENSP00000336832:Q258E	ENSP00000336832:Q258E	Q	-	1	0	GJD3	35770880	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.716000	0.04991	0.044000	0.15775	-0.291000	0.09656	CAA	GJD3	-	NULL		0.572	GJD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD3	HGNC	protein_coding	OTTHUMT00000447449.1	G	NM_152219		38517354	-1	no_errors	ENST00000337376	ensembl	human	known	70_37	missense	SNP	0.001	C
GLI2	2736	genome.wustl.edu	37	2	121726386	121726386	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:121726386G>A	ENST00000452319.1	+	6	800	c.740G>A	c.(739-741)cGg>cAg	p.R247Q	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R247Q					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)				GACCTGCAGCGGATGATCCGC	0.667																																																	0													83.0	75.0	77.0					2																	121726386		2203	4300	6503	SO:0001583	missense	2736				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.740G>A	2.37:g.121726386G>A	ENSP00000390436:p.Arg247Gln			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R247Q	ENST00000452319.1	37	c.740	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555072	0.86231	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.69926	-0.44;-0.44	4.91	3.99	0.46301	.	0.056986	0.64402	D	0.000002	T	0.42877	0.1222	N	0.08118	0	0.80722	D	1	D;P	0.54047	0.964;0.741	B;B	0.38156	0.266;0.105	T	0.54450	-0.8292	10	0.62326	D	0.03	.	12.1399	0.53993	0.0:0.3758:0.6242:0.0	.	247;247	P10070;Q0VGA0	GLI2_HUMAN;.	Q	247	ENSP00000390436:R247Q;ENSP00000354586:R247Q	ENSP00000354586:R247Q	R	+	2	0	GLI2	121442856	1.000000	0.71417	0.984000	0.44739	0.984000	0.73092	6.572000	0.74005	2.557000	0.86248	0.655000	0.94253	CGG	GLI2	-	NULL		0.667	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	G	NM_005270		121726386	+1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	1.000	A
GLI3	2737	genome.wustl.edu	37	7	42004460	42004460	+	Missense_Mutation	SNP	A	A	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:42004460A>T	ENST00000395925.3	-	15	4295	c.4211T>A	c.(4210-4212)cTg>cAg	p.L1404Q	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1404					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCCTGACTGCAGAGCAAGGCT	0.597									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													69.0	71.0	70.0					7																	42004460		2203	4299	6502	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4211T>A	7.37:g.42004460A>T	ENSP00000379258:p.Leu1404Gln		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1404Q	ENST00000395925.3	37	c.4211	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	A	8.710	0.911747	0.17907	.	.	ENSG00000106571	ENST00000395925	T	0.14022	2.54	5.42	4.22	0.49857	.	0.585048	0.18686	N	0.134001	T	0.08758	0.0217	N	0.22421	0.69	0.80722	D	1	B	0.15473	0.013	B	0.09377	0.004	T	0.18871	-1.0323	10	0.27785	T	0.31	.	8.1939	0.31385	0.5841:0.0:0.0:0.4159	.	1404	P10071	GLI3_HUMAN	Q	1404	ENSP00000379258:L1404Q	ENSP00000379258:L1404Q	L	-	2	0	GLI3	41970985	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	3.387000	0.52501	2.039000	0.60335	0.533000	0.62120	CTG	GLI3	-	NULL		0.597	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	A	NM_000168		42004460	-1	no_errors	ENST00000395925	ensembl	human	known	70_37	missense	SNP	0.999	T
GLIPR2	152007	genome.wustl.edu	37	9	36162779	36162779	+	3'UTR	SNP	T	T	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:36162779T>A	ENST00000377960.4	+	0	759				GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_3'UTR|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2						positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						GGGATCCGTTTTTTTTTTTTA	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	152007			AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"""chromosome 9 open reading frame 19"""	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.*260T>A	9.37:g.36162779T>A			Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	RNA	SNP	-	NULL	ENST00000377960.4	37	NULL	CCDS6598.1	9																																																																																			GLIPR2	-	-		0.378	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR2	HGNC	protein_coding	OTTHUMT00000052414.1	T	NM_022343		36162779	+1	no_errors	ENST00000474050	ensembl	human	known	70_37	rna	SNP	0.006	A
GNAS	2778	genome.wustl.edu	37	20	57415400	57415400	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:57415400C>A	ENST00000313949.7	+	1	628	c.239C>A	c.(238-240)cCc>cAc	p.P80H	GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.P80H|GNAS_ENST00000371098.2_Missense_Mutation_p.P80H|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCTGAGTCCCCCGAATCGGAA	0.652			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0													51.0	59.0	57.0					20																	57415400		2203	4300	6503	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.239C>A	20.37:g.57415400C>A	ENSP00000323571:p.Pro80His		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_NESP55	p.P80H	ENST00000313949.7	37	c.239	CCDS13471.1	20	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129680	0.37630	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	3.73	2.77	0.32553	.	.	.	.	.	T	0.50154	0.1599	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	P	0.59825	0.864	T	0.53063	-0.8491	8	0.87932	D	0	.	9.2674	0.37650	0.0:0.7797:0.2203:0.0	.	80	O95467	GNAS3_HUMAN	H	80;80;80;1	.	ENSP00000323571:P80H	P	+	2	0	GNAS	56848795	0.998000	0.40836	0.919000	0.36401	0.808000	0.45660	3.049000	0.49869	1.134000	0.42165	0.585000	0.79938	CCC	GNAS	-	pfam_NESP55		0.652	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080418.7	C	NM_000516		57415400	+1	no_errors	ENST00000313949	ensembl	human	known	70_37	missense	SNP	0.931	A
GNL3L	54552	genome.wustl.edu	37	X	54578806	54578806	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:54578806G>C	ENST00000336470.4	+	13	1402	c.1263G>C	c.(1261-1263)atG>atC	p.M421I	GNL3L_ENST00000360845.2_Missense_Mutation_p.M421I	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	421					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TTAAGGAAATGACCGAGGTCT	0.532																																																	0													199.0	149.0	166.0					X																	54578806		2203	4300	6503	SO:0001583	missense	54552			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1263G>C	X.37:g.54578806G>C	ENSP00000338573:p.Met421Ile			Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain	p.M421I	ENST00000336470.4	37	c.1263	CCDS14360.1	X	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525958	0.44969	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.17854	2.25;2.25	3.58	3.58	0.41010	.	0.120228	0.64402	D	0.000001	T	0.15132	0.0365	L	0.49513	1.565	0.58432	D	0.999992	B	0.30634	0.288	B	0.28011	0.085	T	0.05971	-1.0853	10	0.19590	T	0.45	-19.7182	12.1483	0.54036	0.0:0.0:1.0:0.0	.	421	Q9NVN8	GNL3L_HUMAN	I	421	ENSP00000338573:M421I;ENSP00000354091:M421I	ENSP00000338573:M421I	M	+	3	0	GNL3L	54595531	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	8.436000	0.90300	1.730000	0.51580	0.544000	0.68410	ATG	GNL3L	-	NULL		0.532	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3L	HGNC	protein_coding	OTTHUMT00000056805.1	G	NM_019067		54578806	+1	no_errors	ENST00000336470	ensembl	human	known	70_37	missense	SNP	1.000	C
GOLGA1	2800	genome.wustl.edu	37	9	127674285	127674285	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:127674285C>G	ENST00000373555.4	-	11	1197	c.864G>C	c.(862-864)gaG>gaC	p.E288D		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	288					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CGTCTTCTTTCTCTTGAGTTT	0.438																																																	0													187.0	169.0	175.0					9																	127674285		2203	4300	6503	SO:0001583	missense	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.864G>C	9.37:g.127674285C>G	ENSP00000362656:p.Glu288Asp		Q5T164|Q8IYZ9	Missense_Mutation	SNP	pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP	p.E288D	ENST00000373555.4	37	c.864	CCDS6860.1	9	.	.	.	.	.	.	.	.	.	.	C	8.564	0.878482	0.17395	.	.	ENSG00000136935	ENST00000373555	T	0.78364	-1.17	5.84	0.285	0.15705	.	0.000000	0.44688	U	0.000439	T	0.69753	0.3146	M	0.77103	2.36	0.43275	D	0.99523	B;B	0.14805	0.011;0.007	B;B	0.16722	0.016;0.007	T	0.54788	-0.8241	10	0.28530	T	0.3	-6.4243	2.4415	0.04496	0.1326:0.5159:0.1473:0.2041	.	187;288	Q59HA1;Q92805	.;GOGA1_HUMAN	D	288	ENSP00000362656:E288D	ENSP00000362656:E288D	E	-	3	2	GOLGA1	126714106	1.000000	0.71417	0.683000	0.30040	0.255000	0.26057	0.439000	0.21575	-0.218000	0.10018	-0.195000	0.12781	GAG	GOLGA1	-	superfamily_Prefoldin		0.438	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA1	HGNC	protein_coding	OTTHUMT00000054049.1	C	NM_002077		127674285	-1	no_errors	ENST00000373555	ensembl	human	known	70_37	missense	SNP	0.976	G
GPR143	4935	genome.wustl.edu	37	X	9727434	9727434	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:9727434G>A	ENST00000467482.1	-	3	539	c.393C>T	c.(391-393)ttC>ttT	p.F131F	GPR143_ENST00000380929.2_Silent_p.F151F			P51810	GP143_HUMAN	G protein-coupled receptor 143	131					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				ACAGCCACCAGAAGCAGGCAC	0.507																																																	0													84.0	52.0	63.0					X																	9727434		2203	4298	6501	SO:0001819	synonymous_variant	4935			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.393C>T	X.37:g.9727434G>A			Q6NTI7	Silent	SNP	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	p.F151	ENST00000467482.1	37	c.453	CCDS14134.2	X																																																																																			GPR143	-	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1		0.507	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR143	HGNC	protein_coding	OTTHUMT00000055714.2	G	NM_000273		9727434	-1	no_errors	ENST00000380929	ensembl	human	known	70_37	silent	SNP	1.000	A
GPKOW	27238	genome.wustl.edu	37	X	48979986	48979986	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:48979986C>T	ENST00000156109.5	-	1	165	c.87G>A	c.(85-87)cgG>cgA	p.R29R		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	29						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCAGCCGCCTCCGTGCGGACG	0.622																																																	0													24.0	22.0	23.0					X																	48979986		2203	4299	6502	SO:0001819	synonymous_variant	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.87G>A	X.37:g.48979986C>T			Q59EK5|Q9BQA8	Silent	SNP	pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom	p.R29	ENST00000156109.5	37	c.87	CCDS35251.1	X																																																																																			GPKOW	-	NULL		0.622	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPKOW	HGNC	protein_coding	OTTHUMT00000056535.2	C	NM_015698		48979986	-1	no_errors	ENST00000156109	ensembl	human	known	70_37	silent	SNP	0.956	T
GPR146	115330	genome.wustl.edu	37	7	1097783	1097783	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:1097783C>T	ENST00000397095.1	+	2	855	c.632C>T	c.(631-633)tCc>tTc	p.S211F	C7orf50_ENST00000397100.2_Intron|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000397098.3_Intron|GPR146_ENST00000297468.3_Missense_Mutation_p.S211F|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTGCTACTCTCCCGCGTCCGC	0.687																																																	0													27.0	21.0	23.0					7																	1097783		2194	4291	6485	SO:0001583	missense	115330			BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"""GPCR / Class A : Orphans"""	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.632C>T	7.37:g.1097783C>T	ENSP00000380283:p.Ser211Phe		Q86SP5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S211F	ENST00000397095.1	37	c.632	CCDS5321.1	7	.	.	.	.	.	.	.	.	.	.	C	8.673	0.903336	0.17760	.	.	ENSG00000164849	ENST00000444847;ENST00000397095;ENST00000500070;ENST00000297468	T;T;T	0.34859	1.34;1.34;1.34	4.88	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.311359	0.30686	N	0.009085	T	0.20455	0.0492	N	0.19112	0.55	0.20307	N	0.999912	P	0.41313	0.745	B	0.39840	0.311	T	0.09250	-1.0683	10	0.59425	D	0.04	-11.654	5.3765	0.16168	0.0:0.3904:0.0:0.6096	.	211	Q96CH1	GP146_HUMAN	F	211;211;129;211	ENSP00000410743:S211F;ENSP00000380283:S211F;ENSP00000297468:S211F	ENSP00000297468:S211F	S	+	2	0	GPR146	1064309	0.657000	0.27393	0.002000	0.10522	0.004000	0.04260	3.691000	0.54720	0.486000	0.27676	0.511000	0.50034	TCC	GPR146	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.687	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR146	HGNC	protein_coding	OTTHUMT00000206855.1	C	NM_138445		1097783	+1	no_errors	ENST00000297468	ensembl	human	known	70_37	missense	SNP	0.368	T
GPR37	2861	genome.wustl.edu	37	7	124404620	124404620	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:124404620C>T	ENST00000303921.2	-	1	1061	c.411G>A	c.(409-411)ggG>ggA	p.G137G		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	137					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCGTGGGGTTCCCTCTCCCCA	0.647																																																	0													68.0	80.0	76.0					7																	124404620		2202	4300	6502	SO:0001819	synonymous_variant	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.411G>A	7.37:g.124404620C>T			A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_rcpt,prints_GPCR_Rhodpsn	p.G137	ENST00000303921.2	37	c.411	CCDS5792.1	7																																																																																			GPR37	-	NULL		0.647	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1	C	NM_005302		124404620	-1	no_errors	ENST00000303921	ensembl	human	known	70_37	silent	SNP	0.005	T
GPR98	84059	genome.wustl.edu	37	5	90052844	90052844	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:90052844G>A	ENST00000405460.2	+	57	11902	c.11806G>A	c.(11806-11808)Gtt>Att	p.V3936I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3936	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCCTTGAACGTTCTTCAAGT	0.443																																																	0													100.0	97.0	98.0					5																	90052844		1855	4090	5945	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11806G>A	5.37:g.90052844G>A	ENSP00000384582:p.Val3936Ile		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V3936I	ENST00000405460.2	37	c.11806	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	1.852	-0.464821	0.04476	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.32023	1.47	5.3	-8.89	0.00785	Na-Ca exchanger/integrin-beta4 (2);	0.516289	0.22135	N	0.064122	T	0.09686	0.0238	N	0.17312	0.475	0.26684	N	0.971484	B;B	0.17852	0.024;0.009	B;B	0.13407	0.009;0.007	T	0.23976	-1.0173	10	0.12103	T	0.63	.	3.7245	0.08469	0.4066:0.2322:0.2828:0.0784	.	3936;3936	E7ETI5;Q8WXG9	.;GPR98_HUMAN	I	3936	ENSP00000384582:V3936I	ENSP00000296619:V3936I	V	+	1	0	GPR98	90088600	0.000000	0.05858	0.000000	0.03702	0.462000	0.32619	-1.672000	0.01952	-1.794000	0.01256	0.467000	0.42956	GTT	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90052844	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.000	A
GRM5	2915	genome.wustl.edu	37	11	88386447	88386447	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:88386447G>T	ENST00000305447.4	-	3	1185	c.1036C>A	c.(1036-1038)Cca>Aca	p.P346T	GRM5_ENST00000305432.5_Missense_Mutation_p.P346T|GRM5_ENST00000393297.1_Missense_Mutation_p.P346T|GRM5_ENST00000455756.2_Missense_Mutation_p.P346T|GRM5_ENST00000418177.2_Missense_Mutation_p.P346T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	346					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TTTGTTTCTGGCCGGAGCTTC	0.458																																																	0													93.0	93.0	93.0					11																	88386447		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1036C>A	11.37:g.88386447G>T	ENSP00000306138:p.Pro346Thr		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.P346T	ENST00000305447.4	37	c.1036	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598651	0.87055	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94564	0.7765	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	346;346	P41594-2;P41594	.;GRM5_HUMAN	T	346	ENSP00000402912:P346T;ENSP00000405690:P346T;ENSP00000305905:P346T;ENSP00000306138:P346T;ENSP00000376975:P346T	.	P	-	1	0	GRM5	88026095	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.789000	0.95967	0.591000	0.81541	CCA	GRM5	-	pfam_ANF_lig-bd_rcpt		0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	G	NM_000842		88386447	-1	no_errors	ENST00000305447	ensembl	human	known	70_37	missense	SNP	1.000	T
GRIK4	2900	genome.wustl.edu	37	11	120776103	120776103	+	Silent	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:120776103C>G	ENST00000527524.2	+	13	1664	c.1377C>G	c.(1375-1377)ctC>ctG	p.L459L	GRIK4_ENST00000438375.2_Silent_p.L459L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	459					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)		CAGAGATCCTCCGATTCAACT	0.582																																																	0													165.0	162.0	163.0					11																	120776103		2203	4299	6502	SO:0001819	synonymous_variant	2900			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.1377C>G	11.37:g.120776103C>G			A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L459	ENST00000527524.2	37	c.1377	CCDS8433.1	11																																																																																			GRIK4	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.582	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	C	NM_014619		120776103	+1	no_errors	ENST00000527524	ensembl	human	known	70_37	silent	SNP	0.142	G
GRM8	2918	genome.wustl.edu	37	7	126409937	126409937	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:126409937G>A	ENST00000339582.2	-	7	2147	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	GRM8_ENST00000444921.2_Missense_Mutation_p.R447W|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R447W|GRM8_ENST00000405249.1_Missense_Mutation_p.R447W			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	447					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTTACAGCCCGAATATAACCA	0.413										HNSCC(24;0.065)																																							0													115.0	107.0	110.0					7																	126409937		2203	4300	6503	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1339C>T	7.37:g.126409937G>A	ENSP00000344173:p.Arg447Trp		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	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_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.R447W	ENST00000339582.2	37	c.1339	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289034	0.80914	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.78	4.86	0.63082	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93710	0.7990	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.81914	0.995;0.648;0.987	D	0.94686	0.7870	10	0.66056	D	0.02	.	13.956	0.64150	0.0:0.0:0.819:0.181	.	447;447;447	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	W	447	ENSP00000344173:R447W;ENSP00000409790:R447W;ENSP00000351142:R447W;ENSP00000385731:R447W	ENSP00000344173:R447W	R	-	1	2	GRM8	126197173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.423000	0.66458	1.329000	0.45376	0.655000	0.94253	CGG	GRM8	-	pfam_ANF_lig-bd_rcpt		0.413	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	G			126409937	-1	no_errors	ENST00000339582	ensembl	human	known	70_37	missense	SNP	1.000	A
HAT1	8520	genome.wustl.edu	37	2	172844210	172844210	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:172844210G>A	ENST00000264108.4	+	10	1062	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	HAT1_ENST00000392584.1_Missense_Mutation_p.M257I|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	342					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TAACTGACATGAGTGATGCCG	0.338																																																	0													132.0	135.0	134.0					2																	172844210		2203	4300	6503	SO:0001583	missense	8520			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.1026G>A	2.37:g.172844210G>A	ENSP00000264108:p.Met342Ile		Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su	p.M342I	ENST00000264108.4	37	c.1026	CCDS2245.1	2	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162245	0.38217	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	N	0.08118	0	0.80722	D	1	B;B	0.13145	0.005;0.007	B;B	0.17433	0.018;0.008	T	0.44982	-0.9292	9	0.87932	D	0	-33.1113	20.2228	0.98330	0.0:0.0:1.0:0.0	.	257;342	O14929-2;O14929	.;HAT1_HUMAN	I	257;342	.	ENSP00000264108:M342I	M	+	3	0	HAT1	172552456	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.141000	0.94612	2.789000	0.95967	0.655000	0.94253	ATG	HAT1	-	pirsf_Hist_AcTrfase_B-typ_cat-su		0.338	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAT1	HGNC	protein_coding	OTTHUMT00000255377.1	G	NM_003642		172844210	+1	no_errors	ENST00000264108	ensembl	human	known	70_37	missense	SNP	1.000	A
HDGFL1	154150	genome.wustl.edu	37	6	22570207	22570207	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:22570207G>T	ENST00000230012.3	+	1	530	c.403G>T	c.(403-405)Gac>Tac	p.D135Y	HDGFL1_ENST00000510882.2_Missense_Mutation_p.D135Y	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	135										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GCCGGACGACGACAAGCCCAC	0.721																																																	0													7.0	6.0	7.0					6																	22570207		1984	3994	5978	SO:0001583	missense	154150			AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.403G>T	6.37:g.22570207G>T	ENSP00000230012:p.Asp135Tyr		Q96MJ6	Missense_Mutation	SNP	pfam_PWWP,smart_PWWP,pfscan_PWWP	p.D135Y	ENST00000230012.3	37	c.403	CCDS34347.1	6	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460675	0.26248	.	.	ENSG00000112273	ENST00000230012;ENST00000510882	T;T	0.38887	1.11;1.11	2.51	0.0488	0.14286	.	0.125568	0.51477	D	0.000084	T	0.21347	0.0514	L	0.38175	1.15	0.09310	N	1	D	0.67145	0.996	P	0.55345	0.774	T	0.10200	-1.0640	10	0.87932	D	0	-46.0706	2.5692	0.04790	0.2683:0.2951:0.4366:0.0	.	135	Q5TGJ6	HDGL1_HUMAN	Y	135	ENSP00000230012:D135Y;ENSP00000442129:D135Y	ENSP00000230012:D135Y	D	+	1	0	HDGFL1	22678186	0.005000	0.15991	0.000000	0.03702	0.006000	0.05464	0.699000	0.25586	-0.012000	0.14223	0.491000	0.48974	GAC	HDGFL1	-	NULL		0.721	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGFL1	HGNC	protein_coding	OTTHUMT00000043500.1	G	NM_138574		22570207	+1	no_errors	ENST00000230012	ensembl	human	known	70_37	missense	SNP	0.000	T
HEY1	23462	genome.wustl.edu	37	8	80679867	80679867	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:80679867G>T	ENST00000354724.3	-	1	231	c.32C>A	c.(31-33)tCg>tAg	p.S11*	RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000523976.1_5'Flank|HEY1_ENST00000337919.5_Nonsense_Mutation_p.S11*|RP11-26J3.1_ENST00000502766.2_lincRNA|HEY1_ENST00000435063.2_5'Flank	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	11					angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			CTCGCTGTCCGAGGAGCTGTA	0.692			T	NCOA2	mesenchymal chondrosarcoma																																			Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	0													28.0	23.0	25.0					8																	80679867		2203	4300	6503	SO:0001587	stop_gained	23462			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.32C>A	8.37:g.80679867G>T	ENSP00000346761:p.Ser11*		B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Nonsense_Mutation	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom	p.S11*	ENST00000354724.3	37	c.32	CCDS6225.1	8	.	.	.	.	.	.	.	.	.	.	G	38	6.969792	0.97971	.	.	ENSG00000164683	ENST00000354724;ENST00000542205;ENST00000337919	.	.	.	4.11	3.22	0.36961	.	0.064921	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.1696	12.941	0.58345	0.0:0.1653:0.8347:0.0	.	.	.	.	X	11	.	ENSP00000338272:S11X	S	-	2	0	HEY1	80842422	1.000000	0.71417	0.866000	0.34008	0.982000	0.71751	5.654000	0.67974	1.028000	0.39785	0.561000	0.74099	TCG	HEY1	-	NULL		0.692	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HEY1	HGNC	protein_coding	OTTHUMT00000379516.1	G	NM_012258		80679867	-1	no_errors	ENST00000337919	ensembl	human	known	70_37	nonsense	SNP	1.000	T
HHATL	57467	genome.wustl.edu	37	3	42735141	42735141	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:42735141G>A	ENST00000441594.1	-	10	1477	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	HHATL_ENST00000310417.5_Silent_p.L406L	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	406					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CACTCTGCCAGTTTTTGCATC	0.562																																																	0													47.0	44.0	45.0					3																	42735141		2203	4300	6503	SO:0001819	synonymous_variant	57467			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1216C>T	3.37:g.42735141G>A			Q8TBG3|Q9ULP7	Silent	SNP	pfam_MBOAT_fam	p.L406	ENST00000441594.1	37	c.1216	CCDS2704.1	3																																																																																			HHATL	-	pfam_MBOAT_fam		0.562	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HHATL	HGNC	protein_coding	OTTHUMT00000343627.1	G	NM_020707		42735141	-1	no_errors	ENST00000310417	ensembl	human	known	70_37	silent	SNP	1.000	A
HIPK4	147746	genome.wustl.edu	37	19	40895399	40895399	+	Silent	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:40895399G>C	ENST00000291823.2	-	1	695	c.411C>G	c.(409-411)ctC>ctG	p.L137L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	137	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TCTCAGGCTTGAGATCAGCGT	0.627																																																	0													58.0	54.0	55.0					19																	40895399		2203	4300	6503	SO:0001819	synonymous_variant	147746			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.411C>G	19.37:g.40895399G>C			A8K863|Q96M54	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.L137	ENST00000291823.2	37	c.411	CCDS12555.1	19																																																																																			HIPK4	-	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		0.627	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIPK4	HGNC	protein_coding	OTTHUMT00000462593.1	G	NM_144685		40895399	-1	no_errors	ENST00000291823	ensembl	human	known	70_37	silent	SNP	1.000	C
HIST1H3A	8350	genome.wustl.edu	37	6	26020749	26020749	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:26020749C>G	ENST00000357647.3	+	1	32	c.32C>G	c.(31-33)tCt>tGt	p.S11C	HIST1H4A_ENST00000359907.3_5'Flank|HIST1H1A_ENST00000244573.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	11					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCTCGGAAGTCTACTGGTGGC	0.587																																																	0													63.0	60.0	61.0					6																	26020749		2203	4299	6502	SO:0001583	missense	8350			Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"""Histones / Replication-dependent"""	4766	protein-coding gene	gene with protein product		602810	"""H3 histone family, member A"", ""histone 1, H3a"""	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.32C>G	6.37:g.26020749C>G	ENSP00000350275:p.Ser11Cys		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.S11C	ENST00000357647.3	37	c.32	CCDS4570.1	6	.	.	.	.	.	.	.	.	.	.	c	11.39	1.625666	0.28889	.	.	ENSG00000198366	ENST00000357647	T	0.48201	0.82	3.79	3.79	0.43588	Histone-fold (2);	.	.	.	.	T	0.51244	0.1663	H	0.94264	3.515	0.48236	D	0.999619	P	0.49696	0.927	B	0.39840	0.311	T	0.72337	-0.4324	9	0.87932	D	0	.	15.9278	0.79632	0.0:1.0:0.0:0.0	.	11	P68431	H31_HUMAN	C	11	ENSP00000350275:S11C	ENSP00000350275:S11C	S	+	2	0	HIST1H3A	26128728	1.000000	0.71417	0.384000	0.26145	0.344000	0.29017	7.487000	0.81328	2.405000	0.81733	0.650000	0.86243	TCT	HIST1H3A	-	superfamily_Histone-fold,prints_Histone_H3		0.587	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3A	HGNC	protein_coding	OTTHUMT00000040080.1	C	NM_003529		26020749	+1	no_errors	ENST00000357647	ensembl	human	known	70_37	missense	SNP	1.000	G
HIST1H2BG	8339	genome.wustl.edu	37	6	26216532	26216532	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:26216532C>G	ENST00000244601.3	-	1	340	c.340G>C	c.(340-342)Gaa>Caa	p.E114Q	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	114					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTGGTACCTTCGGACACTGCG	0.532																																																	0													97.0	97.0	97.0					6																	26216532		2203	4300	6503	SO:0001583	missense	8339			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.340G>C	6.37:g.26216532C>G	ENSP00000244601:p.Glu114Gln		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E114Q	ENST00000244601.3	37	c.340	CCDS4594.1	6	.	.	.	.	.	.	.	.	.	.	.	13.36	2.215310	0.39102	.	.	ENSG00000187990	ENST00000244601	T	0.48836	0.8	3.89	3.89	0.44902	.	0.000000	0.33457	U	0.004887	T	0.54581	0.1867	.	.	.	0.37512	D	0.91718	.	.	.	.	.	.	T	0.62695	-0.6800	7	0.72032	D	0.01	.	15.3699	0.74554	0.0:1.0:0.0:0.0	.	.	.	.	Q	114	ENSP00000244601:E114Q	ENSP00000244601:E114Q	E	-	1	0	HIST1H2BG	26324511	1.000000	0.71417	0.999000	0.59377	0.102000	0.19082	7.499000	0.81566	2.172000	0.68678	0.561000	0.74099	GAA	HIST1H2BG	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.532	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BG	HGNC	protein_coding	OTTHUMT00000040109.2	C	NM_003518		26216532	-1	no_errors	ENST00000244601	ensembl	human	known	70_37	missense	SNP	1.000	G
HLA-V	352962	genome.wustl.edu	37	6	29761307	29761307	+	RNA	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:29761307A>G	ENST00000457107.1	+	0	533									major histocompatibility complex, class I, V (pseudogene)																		aaaaaccaagaagtagaagca	0.443																																																	0																																												352962			M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761307A>G				RNA	SNP	-	NULL	ENST00000457107.1	37	NULL		6																																																																																			HLA-V	-	-		0.443	HLA-V-003	KNOWN	basic	processed_transcript	HLA-V	HGNC	pseudogene	OTTHUMT00000105231.1	A	NG_002729		29761307	+1	no_errors	ENST00000457107	ensembl	human	known	70_37	rna	SNP	0.003	G
HORMAD1	84072	genome.wustl.edu	37	1	150671102	150671102	+	3'UTR	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:150671102C>T	ENST00000361824.2	-	0	1318				HORMAD1_ENST00000322343.7_3'UTR|HORMAD1_ENST00000368995.4_3'UTR|GOLPH3L_ENST00000479757.1_5'Flank|HORMAD1_ENST00000368993.2_3'UTR|GOLPH3L_ENST00000271732.3_5'Flank|GOLPH3L_ENST00000540514.1_5'Flank	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1						blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GAGAAGAACTCTGCAAGCCTG	0.328																																																	0													41.0	42.0	42.0					1																	150671102		2200	4298	6498	SO:0001624	3_prime_UTR_variant	84072			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.*28G>A	1.37:g.150671102C>T			A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	RNA	SNP	-	NULL	ENST00000361824.2	37	NULL	CCDS967.1	1																																																																																			HORMAD1	-	-		0.328	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	C	NM_032132		150671102	-1	no_errors	ENST00000470397	ensembl	human	known	70_37	rna	SNP	0.001	T
HORMAD2	150280	genome.wustl.edu	37	22	30517978	30517978	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:30517978C>T	ENST00000336726.6	+	10	949	c.594C>T	c.(592-594)ctC>ctT	p.L198L	HORMAD2_ENST00000403975.1_Silent_p.L198L	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	198	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			ACCAACCCCTCGGTTTTAAAG	0.418																																																	0													40.0	36.0	38.0					22																	30517978		1853	4095	5948	SO:0001819	synonymous_variant	150280			AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.594C>T	22.37:g.30517978C>T			B5MEB2|Q8NHR2	Silent	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.L198	ENST00000336726.6	37	c.594	CCDS46683.1	22																																																																																			HORMAD2	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd		0.418	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HORMAD2	HGNC	protein_coding	OTTHUMT00000320416.2	C	NM_152510		30517978	+1	no_errors	ENST00000336726	ensembl	human	known	70_37	silent	SNP	1.000	T
HOXB3	3213	genome.wustl.edu	37	17	46627737	46627737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:46627737G>A	ENST00000470495.1	-	2	2702	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	HOXB3_ENST00000490677.1_Nonsense_Mutation_p.Q285*|HOXB3_ENST00000311626.4_Nonsense_Mutation_p.Q419*|HOXB3_ENST00000472863.1_Nonsense_Mutation_p.Q346*|HOXB3_ENST00000476342.1_Nonsense_Mutation_p.Q419*|HOXB3_ENST00000489475.1_Nonsense_Mutation_p.Q346*|HOXB3_ENST00000485909.2_Nonsense_Mutation_p.Q287*|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Nonsense_Mutation_p.Q419*|HOXB3_ENST00000460160.1_Nonsense_Mutation_p.Q287*|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA			P14651	HXB3_HUMAN	homeobox B3	419					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ATTCTACCCTGAGGAGGAGGC	0.612											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													76.0	87.0	83.0					17																	46627737		2202	4300	6502	SO:0001587	stop_gained	3213				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.1255C>T	17.37:g.46627737G>A	ENSP00000417207:p.Gln419*	940	A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Q419*	ENST00000470495.1	37	c.1255	CCDS11528.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.117751	0.97300	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	.	.	.	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8711	0.86041	0.0:0.0:1.0:0.0	.	.	.	.	X	419;346;419;419;285;287;287;346;419	.	ENSP00000308252:Q419X	Q	-	1	0	HOXB3	43982736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.103000	0.94232	2.289000	0.77006	0.561000	0.74099	CAG	HOXB3	-	NULL		0.612	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB3	HGNC	protein_coding	OTTHUMT00000358261.1	G			46627737	-1	no_errors	ENST00000311626	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HSPA12B	116835	genome.wustl.edu	37	20	3728949	3728949	+	Missense_Mutation	SNP	G	G	A	rs139568860		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:3728949G>A	ENST00000254963.2	+	8	906	c.761G>A	c.(760-762)cGc>cAc	p.R254H	HSPA12B_ENST00000542646.1_Missense_Mutation_p.R88H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	254							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CGCAAGCTGCGCCTGCACCAG	0.682																																																	0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	43.0	42.0	42.0		758,761	5.0	1.0	20	dbSNP_134	42	0,8600		0,0,4300	no	missense,missense	HSPA12B	NM_001197327.1,NM_052970.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	253/686,254/687	3728949	1,13005	2203	4300	6503	SO:0001583	missense	116835			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.761G>A	20.37:g.3728949G>A	ENSP00000254963:p.Arg254His		D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	NULL	p.R254H	ENST00000254963.2	37	c.761	CCDS13061.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.313013	0.95655	2.27E-4	0.0	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.46063	1.5;0.88;0.89	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.962;0.993	T	0.46925	-0.9156	10	0.15066	T	0.55	.	15.7728	0.78184	0.0:0.0:1.0:0.0	.	253;254	B7ZLP2;Q96MM6	.;HS12B_HUMAN	H	254;88;168	ENSP00000254963:R254H;ENSP00000441506:R88H;ENSP00000382608:R168H	ENSP00000254963:R254H	R	+	2	0	HSPA12B	3676949	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	9.657000	0.98554	2.578000	0.87016	0.655000	0.94253	CGC	HSPA12B	-	NULL		0.682	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12B	HGNC	protein_coding	OTTHUMT00000077756.2	G	NM_052970		3728949	+1	no_errors	ENST00000254963	ensembl	human	known	70_37	missense	SNP	1.000	A
IAH1	285148	genome.wustl.edu	37	2	9618415	9618415	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:9618415C>T	ENST00000497473.1	+	3	236	c.199C>T	c.(199-201)Cca>Tca	p.P67S	IAH1_ENST00000482918.1_5'UTR|IAH1_ENST00000545602.1_5'UTR|IAH1_ENST00000470914.1_5'UTR|IAH1_ENST00000489468.1_3'UTR	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	67					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATTATCCTTCCAAGATTAAT	0.368																																																	0													107.0	101.0	103.0					2																	9618415		1831	4087	5918	SO:0001583	missense	285148			BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.199C>T	2.37:g.9618415C>T	ENSP00000417580:p.Pro67Ser		B4DMV3	Missense_Mutation	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.P67S	ENST00000497473.1	37	c.199	CCDS42651.1	2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107502	0.77096	.	.	ENSG00000134330	ENST00000497473;ENST00000481688	T;T	0.13420	2.59;2.59	5.86	4.99	0.66335	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.047266	0.85682	D	0.000000	T	0.40909	0.1136	M	0.87900	2.915	0.80722	D	1	D	0.63880	0.993	D	0.63381	0.914	T	0.44605	-0.9317	10	0.33141	T	0.24	-17.1532	17.199	0.86901	0.0:0.8741:0.1259:0.0	.	67	Q2TAA2	IAH1_HUMAN	S	67;42	ENSP00000417580:P67S;ENSP00000420532:P42S	ENSP00000420532:P42S	P	+	1	0	IAH1	9535866	1.000000	0.71417	0.443000	0.26883	0.997000	0.91878	5.450000	0.66626	1.481000	0.48307	0.655000	0.94253	CCA	IAH1	-	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type		0.368	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IAH1	HGNC	protein_coding	OTTHUMT00000353192.1	C	NM_001039613		9618415	+1	no_errors	ENST00000497473	ensembl	human	known	70_37	missense	SNP	0.998	T
IDH3B	3420	genome.wustl.edu	37	20	2644581	2644581	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:2644581G>A	ENST00000380843.4	-	2	137	c.107C>T	c.(106-108)tCg>tTg	p.S36L	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Missense_Mutation_p.S36L|RP4-686C3.7_ENST00000418739.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	36					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						CTGGCTCCGCGATGCAGCGTG	0.657																																																	0													48.0	51.0	50.0					20																	2644581		2203	4300	6503	SO:0001583	missense	3420				CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.107C>T	20.37:g.2644581G>A	ENSP00000370223:p.Ser36Leu		B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.S36L	ENST00000380843.4	37	c.107	CCDS13032.1	20	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653317	0.29425	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000341825	T;T	0.40225	1.04;1.04	5.64	0.179	0.15063	.	0.648256	0.16595	N	0.207582	T	0.17789	0.0427	N	0.08118	0	0.20403	N	0.999908	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13442	-1.0509	10	0.30078	T	0.28	-0.2841	4.4941	0.11828	0.32:0.0:0.5371:0.1429	.	36;36	O43837-2;O43837	.;IDH3B_HUMAN	L	36	ENSP00000370232:S36L;ENSP00000370223:S36L	ENSP00000343215:S36L	S	-	2	0	IDH3B	2592581	0.005000	0.15991	0.001000	0.08648	0.013000	0.08279	1.032000	0.30178	0.073000	0.16731	-0.812000	0.03155	TCG	IDH3B	-	NULL		0.657	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	HGNC	protein_coding	OTTHUMT00000077613.1	G			2644581	-1	no_errors	ENST00000380843	ensembl	human	known	70_37	missense	SNP	0.001	A
IKBKB	3551	genome.wustl.edu	37	8	42177143	42177143	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:42177143G>T	ENST00000520810.1	+	15	1743	c.1557G>T	c.(1555-1557)caG>caT	p.Q519H	IKBKB_ENST00000522785.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.Q296H|IKBKB_ENST00000520835.1_Missense_Mutation_p.Q517H|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q460H|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	519					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|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)|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 cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|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)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AAATGGAGCAGGCTGTGGAGC	0.433											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68.0	66.0	66.0					8																	42177143		2203	4300	6503	SO:0001583	missense	3551			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1557G>T	8.37:g.42177143G>T	ENSP00000430684:p.Gln519His	906	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q519H	ENST00000520810.1	37	c.1557	CCDS6128.1	8	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766764	0.69878	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	L	0.59436	1.845	0.48395	D	0.999649	D;D;B;D	0.71674	0.998;0.997;0.003;0.994	D;D;B;P	0.79784	0.993;0.946;0.003;0.885	T	0.33317	-0.9873	10	0.62326	D	0.03	.	10.2407	0.43310	0.1494:0.0:0.8506:0.0	.	460;517;296;519	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	H	519;460;517;296	ENSP00000430684:Q519H;ENSP00000404920:Q460H;ENSP00000430868:Q517H;ENSP00000369030:Q296H	ENSP00000369030:Q296H	Q	+	3	2	IKBKB	42296300	1.000000	0.71417	0.993000	0.49108	0.917000	0.54804	1.837000	0.39201	2.643000	0.89663	0.563000	0.77884	CAG	IKBKB	-	NULL		0.433	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKB	HGNC	protein_coding	OTTHUMT00000377214.1	G			42177143	+1	no_errors	ENST00000520810	ensembl	human	known	70_37	missense	SNP	1.000	T
IL20RB	53833	genome.wustl.edu	37	3	136708308	136708308	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:136708308G>C	ENST00000329582.4	+	4	681	c.432G>C	c.(430-432)gaG>gaC	p.E144D	IL20RB_ENST00000309741.5_Missense_Mutation_p.E97D|IL20RB_ENST00000484501.1_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	144	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CTGGGATGGAGATCACCAAAG	0.577																																																	0													88.0	83.0	85.0					3																	136708308		2203	4300	6503	SO:0001583	missense	53833			BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.432G>C	3.37:g.136708308G>C	ENSP00000328133:p.Glu144Asp		B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E144D	ENST00000329582.4	37	c.432	CCDS3093.1	3	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287317	0.23478	.	.	ENSG00000174564	ENST00000329582;ENST00000309741	T;T	0.74737	-0.87;-0.87	4.9	-3.4	0.04853	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.928208	0.09144	N	0.842564	T	0.49830	0.1580	L	0.27053	0.805	0.09310	N	1	P	0.35226	0.491	B	0.34536	0.185	T	0.41805	-0.9488	10	0.18276	T	0.48	-2.2032	0.1732	0.00116	0.264:0.263:0.2059:0.2672	.	144	Q6UXL0	I20RB_HUMAN	D	144;97	ENSP00000328133:E144D;ENSP00000311979:E97D	ENSP00000311979:E97D	E	+	3	2	IL20RB	138190998	0.004000	0.15560	0.000000	0.03702	0.688000	0.40055	-0.051000	0.11885	-0.539000	0.06273	-1.045000	0.02358	GAG	IL20RB	-	superfamily_Fibronectin_type3		0.577	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20RB	HGNC	protein_coding	OTTHUMT00000357277.2	G	NM_144717		136708308	+1	no_errors	ENST00000329582	ensembl	human	known	70_37	missense	SNP	0.000	C
INTS1	26173	genome.wustl.edu	37	7	1511263	1511263	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:1511263G>A	ENST00000404767.3	-	45	6284	c.6199C>T	c.(6199-6201)Ctg>Ttg	p.L2067L	INTS1_ENST00000389470.4_Silent_p.L2271L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	2067					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)		ATGTCACTCAGAACCTCCAGC	0.637																																																	0													68.0	78.0	75.0					7																	1511263		1991	4163	6154	SO:0001819	synonymous_variant	26173			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.6199C>T	7.37:g.1511263G>A			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.L2271	ENST00000404767.3	37	c.6811	CCDS47526.1	7																																																																																			INTS1	-	superfamily_ARM-type_fold		0.637	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1511263	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	0.997	A
INHBA	3624	genome.wustl.edu	37	7	41729812	41729812	+	Silent	SNP	G	G	A	rs370035610		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:41729812G>A	ENST00000242208.4	-	3	963	c.717C>T	c.(715-717)gaC>gaT	p.D239D	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Silent_p.D239D|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	239					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAATCCGAACGTCCAGGGAGC	0.562										TSP Lung(11;0.080)																																							0								G		0,4406		0,0,2203	48.0	48.0	48.0		717	-1.8	0.6	7		48	1,8599		0,1,4299	no	coding-synonymous	INHBA	NM_002192.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		239/427	41729812	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.717C>T	7.37:g.41729812G>A			Q14599	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.D239	ENST00000242208.4	37	c.717	CCDS5464.1	7																																																																																			INHBA	-	pfam_TGF-b_N		0.562	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	G			41729812	-1	no_errors	ENST00000242208	ensembl	human	known	70_37	silent	SNP	0.985	A
IRGQ	126298	genome.wustl.edu	37	19	44099333	44099333	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:44099333C>T	ENST00000602269.1	-	1	343	c.158G>A	c.(157-159)gGc>gAc	p.G53D	L34079.2_ENST00000594374.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank|IRGQ_ENST00000422989.1_Missense_Mutation_p.G53D|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank|ZNF576_ENST00000528387.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	53										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				AAGGCCTGGGCCCGCAGCTCT	0.711																																																	0													8.0	9.0	9.0					19																	44099333		2133	4186	6319	SO:0001583	missense	126298			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.158G>A	19.37:g.44099333C>T	ENSP00000472250:p.Gly53Asp		B2RNP3	Missense_Mutation	SNP	NULL	p.G53D	ENST00000602269.1	37	c.158	CCDS33040.1	19	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380895	0.82792	.	.	ENSG00000167378	ENST00000422989	T	0.53423	0.62	3.97	2.89	0.33648	.	0.174884	0.27981	N	0.017078	T	0.46132	0.1377	N	0.24115	0.695	0.28758	N	0.901043	D	0.71674	0.998	D	0.64776	0.929	T	0.33085	-0.9882	10	0.20046	T	0.44	-27.8779	9.3584	0.38182	0.0:0.7684:0.2316:0.0	.	53	Q8WZA9	IRGQ_HUMAN	D	53	ENSP00000387535:G53D	ENSP00000387535:G53D	G	-	2	0	IRGQ	48791173	0.369000	0.25039	0.983000	0.44433	0.929000	0.56500	1.328000	0.33758	0.968000	0.38212	0.655000	0.94253	GGC	IRGQ	-	NULL		0.711	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	C	NM_001007561		44099333	-1	no_errors	ENST00000422989	ensembl	human	known	70_37	missense	SNP	0.981	T
IVL	3713	genome.wustl.edu	37	1	152882943	152882943	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:152882943G>C	ENST00000368764.3	+	2	734	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	IVL_ENST00000392667.2_Missense_Mutation_p.E78Q			P07476	INVO_HUMAN	involucrin	224	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggggcagctggagctcccaga	0.692																																																	0													1.0	2.0	2.0					1																	152882943		1109	2558	3667	SO:0001583	missense	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.670G>C	1.37:g.152882943G>C	ENSP00000357753:p.Glu224Gln		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.E224Q	ENST00000368764.3	37	c.670	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	g	0.034	-1.317292	0.01331	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10477	3.07;2.87	2.72	-5.44	0.02624	.	.	.	.	.	T	0.01870	0.0059	L	0.42245	1.32	0.09310	N	1	B	0.14012	0.009	B	0.20384	0.029	T	0.45687	-0.9244	9	0.15952	T	0.53	.	5.2626	0.15582	0.2153:0.2907:0.4939:0.0	.	224	P07476	INVO_HUMAN	Q	224;78	ENSP00000357753:E224Q;ENSP00000376435:E78Q	ENSP00000357753:E224Q	E	+	1	0	IVL	151149567	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.939000	0.03933	-1.840000	0.01184	-2.281000	0.00270	GAG	IVL	-	pfam_Involucrin_rpt		0.692	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	G	NM_005547		152882943	+1	no_errors	ENST00000368764	ensembl	human	known	70_37	missense	SNP	0.000	C
JAKMIP1	152789	genome.wustl.edu	37	4	6051584	6051584	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr4:6051584C>T	ENST00000409021.3	-	15	2373	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E457K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0					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						TTCATAAGTTCAGAAACATTC	0.428																																																	0													101.0	104.0	103.0					4																	6051584		1856	4101	5957	SO:0001583	missense	152789			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	ENST00000409021.3:c.1924G>A	4.37:g.6051584C>T	ENSP00000386711:p.Glu642Lys		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	NULL	p.E642K	ENST00000409021.3	37	c.1924	CCDS47005.1	4	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997617	0.93227	.	.	ENSG00000152969	ENST00000409021;ENST00000409371	T;T	0.39229	1.5;1.09	5.3	5.3	0.74995	.	0.000000	0.52532	U	0.000080	T	0.31104	0.0786	.	.	.	0.80722	D	1	B;B	0.29301	0.241;0.241	B;B	0.29942	0.109;0.109	T	0.07809	-1.0753	9	0.12430	T	0.62	.	18.3002	0.90160	0.0:1.0:0.0:0.0	.	457;642	Q96N16-5;Q96N16-2	.;.	K	642;457	ENSP00000386711:E642K;ENSP00000387042:E457K	ENSP00000386711:E642K	E	-	1	0	JAKMIP1	6102485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.584000	0.74057	2.650000	0.89964	0.655000	0.94253	GAA	JAKMIP1	-	NULL		0.428	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000329747.1	C	NM_144720		6051584	-1	no_errors	ENST00000409021	ensembl	human	known	70_37	missense	SNP	1.000	T
JOSD1	9929	genome.wustl.edu	37	22	39085337	39085337	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:39085337G>T	ENST00000216039.5	-	2	957	c.278C>A	c.(277-279)aCc>aAc	p.T93N		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	93	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					ATAGCCTTTGGTCTGAAGTGC	0.458																																																	0													186.0	141.0	157.0					22																	39085337		2203	4300	6503	SO:0001583	missense	9929				CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.278C>A	22.37:g.39085337G>T	ENSP00000216039:p.Thr93Asn		A8K712	Missense_Mutation	SNP	pfam_Josephin,pfscan_Josephin	p.T93N	ENST00000216039.5	37	c.278	CCDS13976.1	22	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945877	0.73672	.	.	ENSG00000100221	ENST00000216039;ENST00000427389;ENST00000412832	T;T;T	0.42900	0.96;0.96;0.96	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	L	0.42245	1.32	0.80722	D	1	P	0.43826	0.818	P	0.50378	0.639	T	0.17440	-1.0369	10	0.17832	T	0.49	.	19.387	0.94560	0.0:0.0:1.0:0.0	.	93	Q15040	JOS1_HUMAN	N	93	ENSP00000216039:T93N;ENSP00000410010:T93N;ENSP00000415189:T93N	ENSP00000216039:T93N	T	-	2	0	JOSD1	37415283	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	9.869000	0.99810	2.572000	0.86782	0.655000	0.94253	ACC	JOSD1	-	pfam_Josephin,pfscan_Josephin		0.458	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JOSD1	HGNC	protein_coding	OTTHUMT00000321047.1	G	NM_014876		39085337	-1	no_errors	ENST00000216039	ensembl	human	known	70_37	missense	SNP	1.000	T
KANK1	23189	genome.wustl.edu	37	9	713097	713097	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:713097G>T	ENST00000382303.1	+	7	2983	c.2331G>T	c.(2329-2331)agG>agT	p.R777S	KANK1_ENST00000382297.2_Missense_Mutation_p.R777S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.R619S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	777					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCAAAATGAGGACTATAGCTT	0.527																																																	0													83.0	86.0	85.0					9																	713097		2203	4300	6503	SO:0001583	missense	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2331G>T	9.37:g.713097G>T	ENSP00000371740:p.Arg777Ser		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R777S	ENST00000382303.1	37	c.2331	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887224	0.72410	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.43688	0.94;0.94;0.94	5.97	4.15	0.48705	.	0.000000	0.64402	D	0.000005	T	0.62109	0.2401	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63871	-0.6539	10	0.87932	D	0	-24.5017	9.1294	0.36835	0.3288:0.0:0.6712:0.0	.	777;777	Q5W0W1;Q14678	.;KANK1_HUMAN	S	777;777;777;619	ENSP00000371740:R777S;ENSP00000371734:R777S;ENSP00000371730:R619S	ENSP00000346479:R777S	R	+	3	2	KANK1	703097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.194000	0.42668	0.872000	0.35775	0.655000	0.94253	AGG	KANK1	-	NULL		0.527	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	G	NM_015158		713097	+1	no_errors	ENST00000382297	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNB2	9312	genome.wustl.edu	37	8	73849925	73849925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:73849925G>T	ENST00000523207.1	+	3	2923	c.2335G>T	c.(2335-2337)Gga>Tga	p.G779*		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	779					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GCCTTGTCAGGGACCTTCCAA	0.542																																																	0													49.0	54.0	52.0					8																	73849925		2203	4300	6503	SO:0001587	stop_gained	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2335G>T	8.37:g.73849925G>T	ENSP00000430846:p.Gly779*		Q7Z7D0|Q9BXD3	Nonsense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.G779*	ENST00000523207.1	37	c.2335	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	42	9.678702	0.99237	.	.	ENSG00000182674	ENST00000523207	.	.	.	5.04	5.04	0.67666	.	0.792656	0.10636	N	0.651581	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.5564	0.91086	0.0:0.0:1.0:0.0	.	.	.	.	X	779	.	ENSP00000430846:G779X	G	+	1	0	KCNB2	74012479	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.106000	0.64597	2.602000	0.87976	0.591000	0.81541	GGA	KCNB2	-	NULL		0.542	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	G	NM_004770		73849925	+1	no_errors	ENST00000523207	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KCND2	3751	genome.wustl.edu	37	7	120373062	120373062	+	Silent	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:120373062C>A	ENST00000331113.4	+	2	2186	c.1221C>A	c.(1219-1221)tcC>tcA	p.S407S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	407					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGATTGTATCCAACTTCAGTC	0.483																																																	0													187.0	156.0	167.0					7																	120373062		2203	4300	6503	SO:0001819	synonymous_variant	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1221C>A	7.37:g.120373062C>A			O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.S407	ENST00000331113.4	37	c.1221	CCDS5776.1	7																																																																																			KCND2	-	pfam_Ion_trans_2,prints_K_chnl		0.483	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	C	NM_012281		120373062	+1	no_errors	ENST00000331113	ensembl	human	known	70_37	silent	SNP	0.992	A
ICE1	23379	genome.wustl.edu	37	5	5463891	5463891	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:5463891G>A	ENST00000296564.7	+	13	4666	c.4444G>A	c.(4444-4446)Gag>Aag	p.E1482K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1482					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						TGCATTTCAGGAGGCTCCATG	0.507																																																	0													76.0	74.0	74.0					5																	5463891		1916	4128	6044	SO:0001583	missense	23379																														ENST00000296564.7:c.4444G>A	5.37:g.5463891G>A	ENSP00000296564:p.Glu1482Lys		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E1482K	ENST00000296564.7	37	c.4444	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798056	0.70567	.	.	ENSG00000164151	ENST00000296564	T	0.13538	2.58	4.86	4.86	0.63082	.	.	.	.	.	T	0.21550	0.0519	L	0.27053	0.805	0.09310	N	1	D	0.63046	0.992	P	0.62740	0.906	T	0.12319	-1.0552	9	0.27785	T	0.31	-14.2934	13.3468	0.60578	0.0:0.0:1.0:0.0	.	1482	Q9Y2F5	K0947_HUMAN	K	1482	ENSP00000296564:E1482K	ENSP00000296564:E1482K	E	+	1	0	KIAA0947	5516891	0.036000	0.19791	0.027000	0.17364	0.016000	0.09150	0.948000	0.29096	2.524000	0.85096	0.460000	0.39030	GAG	KIAA0947	-	NULL		0.507	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5463891	+1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.049	A
KIAA1755	85449	genome.wustl.edu	37	20	36874342	36874342	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:36874342C>T	ENST00000279024.4	-	2	461	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	64										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAGGCTGCTTCTCGCACTTGC	0.582																																																	0													64.0	55.0	58.0					20																	36874342		2203	4300	6503	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.190G>A	20.37:g.36874342C>T	ENSP00000279024:p.Glu64Lys		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.E64K	ENST00000279024.4	37	c.190	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888001	0.91814	.	.	ENSG00000149633	ENST00000279024	T	0.06294	3.32	5.51	4.5	0.54988	.	0.000000	0.50627	D	0.000117	T	0.16257	0.0391	L	0.60455	1.87	0.41615	D	0.988939	D	0.60575	0.988	P	0.57620	0.824	T	0.00062	-1.2156	10	0.66056	D	0.02	.	13.1843	0.59672	0.0:0.6998:0.3002:0.0	.	64	Q5JYT7	K1755_HUMAN	K	64	ENSP00000279024:E64K	ENSP00000279024:E64K	E	-	1	0	KIAA1755	36307756	1.000000	0.71417	0.964000	0.40570	0.911000	0.54048	6.949000	0.75971	2.746000	0.94184	0.655000	0.94253	GAA	KIAA1755	-	NULL		0.582	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	C	NM_001029864		36874342	-1	no_errors	ENST00000279024	ensembl	human	known	70_37	missense	SNP	0.998	T
KIF11	3832	genome.wustl.edu	37	10	94397237	94397237	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:94397237G>A	ENST00000260731.3	+	16	2185	c.2095G>A	c.(2095-2097)Gag>Aag	p.E699K		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	699					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCTTGGTTGAGTCACAAAA	0.383																																					Colon(47;212 1003 2764 4062 8431)												0													80.0	79.0	79.0					10																	94397237		2203	4300	6503	SO:0001583	missense	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2095G>A	10.37:g.94397237G>A	ENSP00000260731:p.Glu699Lys		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E699K	ENST00000260731.3	37	c.2095	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	16.61	3.169996	0.57584	.	.	ENSG00000138160	ENST00000260731	T	0.66460	-0.21	5.2	5.2	0.72013	.	0.520482	0.20906	N	0.083549	T	0.51686	0.1689	L	0.29908	0.895	0.37316	D	0.909349	B	0.32781	0.384	B	0.28305	0.088	T	0.54050	-0.8351	10	0.15952	T	0.53	.	14.5875	0.68339	0.0:0.0:1.0:0.0	.	699	P52732	KIF11_HUMAN	K	699	ENSP00000260731:E699K	ENSP00000260731:E699K	E	+	1	0	KIF11	94387217	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	2.366000	0.44204	2.586000	0.87340	0.655000	0.94253	GAG	KIF11	-	NULL		0.383	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	G	NM_004523		94397237	+1	no_errors	ENST00000260731	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF19	124602	genome.wustl.edu	37	17	72350665	72350665	+	Silent	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:72350665G>T	ENST00000389916.4	+	18	2811	c.2673G>T	c.(2671-2673)cgG>cgT	p.R891R	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	891					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						GAAGGAAGCGGAGGTCCCGAT	0.642																																																	0													15.0	19.0	18.0					17																	72350665		2009	4128	6137	SO:0001819	synonymous_variant	124602			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.2673G>T	17.37:g.72350665G>T			A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R891	ENST00000389916.4	37	c.2673	CCDS32718.2	17																																																																																			KIF19	-	NULL		0.642	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	G	NM_153209		72350665	+1	no_errors	ENST00000389916	ensembl	human	known	70_37	silent	SNP	1.000	T
KIF1B	23095	genome.wustl.edu	37	1	10399865	10399865	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:10399865C>T	ENST00000377086.1	+	32	3663	c.3461C>T	c.(3460-3462)cCc>cTc	p.P1154L	KIF1B_ENST00000377081.1_Missense_Mutation_p.P1154L|KIF1B_ENST00000263934.6_Missense_Mutation_p.P1108L			O60333	KIF1B_HUMAN	kinesin family member 1B	1154					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCCACGGAGCCCCTCAAAAAC	0.393																																																	0													87.0	82.0	84.0					1																	10399865		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3461C>T	1.37:g.10399865C>T	ENSP00000366290:p.Pro1154Leu		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1108L	ENST00000377086.1	37	c.3323		1	.	.	.	.	.	.	.	.	.	.	C	34	5.293301	0.95546	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	D;D;D	0.85088	-1.94;-1.94;-1.94	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.92766	0.7700	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.946;0.994	D	0.93642	0.6965	10	0.72032	D	0.01	.	18.4716	0.90777	0.0:1.0:0.0:0.0	.	1140;1114;1154;1128;1154;1108	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	L	1154;1108;1154;1154	ENSP00000263934:P1108L;ENSP00000366290:P1154L;ENSP00000366284:P1154L	ENSP00000263934:P1108L	P	+	2	0	KIF1B	10322452	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.363000	0.80096	0.650000	0.86243	CCC	KIF1B	-	NULL		0.393	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	C			10399865	+1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF3B	9371	genome.wustl.edu	37	20	30915357	30915357	+	Splice_Site	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:30915357A>G	ENST00000375712.3	+	7	2029		c.e7-1		KIF3B_ENST00000418717.2_Splice_Site	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B						anterograde axon cargo transport (GO:0008089)|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)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTTCATTTCCAGGAACCAGCA	0.537																																																	0													94.0	87.0	89.0					20																	30915357		2203	4300	6503	SO:0001630	splice_region_variant	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1863-1A>G	20.37:g.30915357A>G			B2RMP4|B4DSR5|E1P5M5	Splice_Site	SNP	-	e6-2	ENST00000375712.3	37	c.1863-2	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238986	0.79800	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7617	0.78087	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF3B	30379018	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	8.404000	0.90210	2.371000	0.80710	0.533000	0.62120	.	KIF3B	-	-		0.537	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	A	NM_004798	Intron	30915357	+1	no_errors	ENST00000375712	ensembl	human	known	70_37	splice_site	SNP	1.000	G
KRT28	162605	genome.wustl.edu	37	17	38950145	38950145	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:38950145C>G	ENST00000306658.7	-	6	1197	c.1132G>C	c.(1132-1134)Gat>Cat	p.D378H		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ACCTTGACATCGAGGAGATGC	0.522																																					Melanoma(19;789 869 15380 26882 39836)												0													154.0	148.0	150.0					17																	38950145		2203	4300	6503	SO:0001583	missense	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1132G>C	17.37:g.38950145C>G	ENSP00000305263:p.Asp378His			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.D378H	ENST00000306658.7	37	c.1132	CCDS11376.1	17	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561780	0.27915	.	.	ENSG00000173908	ENST00000306658	D	0.91577	-2.87	5.7	4.73	0.59995	Filament (1);	0.180271	0.39083	N	0.001463	D	0.95345	0.8489	M	0.91196	3.185	0.24904	N	0.992085	D	0.53462	0.96	P	0.58391	0.838	D	0.90635	0.4570	10	0.72032	D	0.01	.	14.1372	0.65295	0.0:0.9278:0.0:0.0722	.	378	Q7Z3Y7	K1C28_HUMAN	H	378	ENSP00000305263:D378H	ENSP00000305263:D378H	D	-	1	0	KRT28	36203671	0.904000	0.30761	0.015000	0.15790	0.001000	0.01503	2.172000	0.42463	1.549000	0.49425	-0.145000	0.13849	GAT	KRT28	-	pfam_F		0.522	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	C	NM_181535		38950145	-1	no_errors	ENST00000306658	ensembl	human	known	70_37	missense	SNP	0.378	G
RP4-529N6.1	0	genome.wustl.edu	37	6	4611411	4611411	+	lincRNA	SNP	A	A	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:4611411A>C	ENST00000380106.2	+	0	357																											CTAACTTTGAAAAGACCGCTG	0.433																																																	0																																												497048																															6.37:g.4611411A>C				RNA	SNP	-	NULL	ENST00000380106.2	37	NULL		6																																																																																			RP4-529N6.1	-	-		0.433	RP4-529N6.1-001	KNOWN	basic	lincRNA	KU-MEL-3	Clone_based_vega_gene	lincRNA	OTTHUMT00000039731.1	A			4611411	+1	no_errors	ENST00000380106	ensembl	human	known	70_37	rna	SNP	0.001	C
LHX3	8022	genome.wustl.edu	37	9	139096823	139096823	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:139096823C>T	ENST00000371748.5	-	1	132	c.36G>A	c.(34-36)gcG>gcA	p.A12A	LHX3_ENST00000371746.3_5'Flank	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	12					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CCCCGGGCCTCGCTCGGTCGC	0.721																																																	0													9.0	10.0	10.0					9																	139096823		2148	4199	6347	SO:0001819	synonymous_variant	8022			AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.36G>A	9.37:g.139096823C>T			Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.A12	ENST00000371748.5	37	c.36	CCDS6994.1	9																																																																																			LHX3	-	NULL		0.721	LHX3-001	KNOWN	basic|CCDS	protein_coding	LHX3	HGNC	protein_coding	OTTHUMT00000055048.3	C			139096823	-1	no_errors	ENST00000371748	ensembl	human	known	70_37	silent	SNP	0.236	T
LOC100507334	100507334	genome.wustl.edu	37	2	111023707	111023707	+	lincRNA	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:111023707A>G	ENST00000568756.2	+	0	428					NR_037626.1																						GAAGGATACAAAAGACATCTG	0.443																																																	0																																												100271835																															2.37:g.111023707A>G				RNA	SNP	-	NULL	ENST00000568756.2	37	NULL		2																																																																																			RP11-1223D19.1	-	-		0.443	RP11-1223D19.1-011	KNOWN	basic	lincRNA	LIMS3-LOC440895	Clone_based_vega_gene	lincRNA	OTTHUMT00000467849.1	A			111023707	+1	no_errors	ENST00000562665	ensembl	human	known	70_37	rna	SNP	1.000	G
LIN28B	389421	genome.wustl.edu	37	6	105474188	105474188	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:105474188G>C	ENST00000345080.4	+	3	417	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	72	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ACTATTCATGGAAGGATTTAG	0.358																																																	0													77.0	88.0	84.0					6																	105474188		2201	4299	6500	SO:0001583	missense	389421			AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.214G>C	6.37:g.105474188G>C	ENSP00000344401:p.Glu72Gln		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd	p.E72Q	ENST00000345080.4	37	c.214	CCDS34504.1	6	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629386	0.87660	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.92	5.92	0.95590	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.098083	0.64402	D	0.000001	T	0.53850	0.1822	L	0.42632	1.34	0.80722	D	1	P;D	0.53885	0.846;0.963	B;P	0.50082	0.35;0.63	T	0.51787	-0.8661	9	0.45353	T	0.12	-20.5209	20.3116	0.98642	0.0:0.0:1.0:0.0	.	49;72	A7E2T3;Q6ZN17	.;LN28B_HUMAN	Q	72	.	ENSP00000344401:E72Q	E	+	1	0	LIN28B	105580881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.793000	0.96121	0.650000	0.86243	GAA	LIN28B	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot		0.358	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN28B	HGNC	protein_coding	OTTHUMT00000041646.2	G	NM_001004317		105474188	+1	no_errors	ENST00000345080	ensembl	human	known	70_37	missense	SNP	1.000	C
LINC00686	140865	genome.wustl.edu	37	20	61331798	61331798	+	lincRNA	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:61331798C>A	ENST00000435412.1	-	0	34									long intergenic non-protein coding RNA 686																		CATGACAAGACCCTCAGCTTC	0.647																																																	0																																												140865			D80415		20q13.33	2012-10-24	2012-10-24	2012-10-24	ENSG00000237687	ENSG00000237687		"""Long non-coding RNAs"""	16221	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 90"""	C20orf90			Standard			Approved	bA93B14.2			OTTHUMG00000032927		20.37:g.61331798C>A				RNA	SNP	-	NULL	ENST00000435412.1	37	NULL		20	.	.	.	.	.	.	.	.	.	.	C	5.647	0.304003	0.10678	.	.	ENSG00000237687	ENST00000435412	.	.	.	1.83	-0.759	0.11045	.	.	.	.	.	T	0.33789	0.0875	.	.	.	.	.	.	.	.	.	.	.	.	T	0.42965	-0.9420	4	0.87932	D	0	.	1.6655	0.02801	0.2894:0.1976:0.0:0.513	.	.	.	.	V	12	.	ENSP00000414143:G12V	G	-	2	0	C20orf90	60802243	0.000000	0.05858	0.003000	0.11579	0.119000	0.20118	-2.280000	0.01158	-0.199000	0.10317	0.205000	0.17691	GGT	LINC00686	-	-		0.647	LINC00686-001	KNOWN	basic	lincRNA	LINC00686	HGNC	lincRNA	OTTHUMT00000080056.1	C			61331798	-1	no_errors	ENST00000435412	ensembl	human	known	70_37	rna	SNP	0.003	A
LINC01347	731275	genome.wustl.edu	37	1	243260602	243260602	+	lincRNA	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:243260602C>G	ENST00000417964.1	-	0	333																											TAATCATCATCTTGAAAAAGA	0.473																																																	0																																												100996554																															1.37:g.243260602C>G				Splice_Site	SNP	-	NULL	ENST00000417964.1	37	c.NULL		1																																																																																			RP11-261C10.3	-	-		0.473	RP11-261C10.3-006	KNOWN	basic	lincRNA	LOC100996554	Clone_based_vega_gene	lincRNA	OTTHUMT00000096168.1	C			243260602	-1	no_errors	ENST00000417964	ensembl	human	known	70_37	splice_site	SNP	0.188	G
LINC01410	103352539	genome.wustl.edu	37	9	66466650	66466650	+	lincRNA	SNP	G	G	C	rs1133399	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:66466650G>C	ENST00000424345.1	+	0	1283																											gctaataaaggactccttaat	0.478																																																	0																																												100996870																															9.37:g.66466650G>C				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.478	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	G			66466650	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	SNP	0.105	C
LINC01010	154092	genome.wustl.edu	37	6	134824015	134824015	+	lincRNA	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:134824015C>T	ENST00000431422.1	+	0	365				RP11-557H15.3_ENST00000417483.1_lincRNA	NR_038217.1|NR_038218.1				long intergenic non-protein coding RNA 1010																		AGACTGGCTTCGGGGAACCTG	0.493																																																	0																																												154092					6q23.2	2013-07-24			ENSG00000236700	ENSG00000236700		"""Long non-coding RNAs"""	48978	non-coding RNA	RNA, long non-coding							Standard	NR_038216		Approved				OTTHUMG00000015616		6.37:g.134824015C>T				RNA	SNP	-	NULL	ENST00000431422.1	37	NULL		6																																																																																			RP11-557H15.2	-	-		0.493	LINC01010-001	KNOWN	basic	lincRNA	LOC154092	Clone_based_vega_gene	lincRNA	OTTHUMT00000042322.1	C			134824015	+1	no_errors	ENST00000431422	ensembl	human	known	70_37	rna	SNP	0.000	T
Unknown	0	genome.wustl.edu	37	3	195435129	195435129	+	IGR	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:195435129C>G								MIR570 (8761 upstream) : MUC20 (12623 downstream)																							ACAGTGTCCTCTGCAACCCTG	0.552																																																	0																																										SO:0001628	intergenic_variant	440993																															3.37:g.195435129C>G				RNA	SNP	-	NULL		37	NULL		3																																																																																			AC069513.3	-	-	0	0.552					LOC440993	Clone_based_vega_gene			C			195435129	+1	no_errors	ENST00000417704	ensembl	human	known	70_37	rna	SNP	0.245	G
LOC729218	729218	genome.wustl.edu	37	4	119554526	119554526	+	lincRNA	SNP	G	G	A	rs536832858		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr4:119554526G>A	ENST00000567913.2	+	0	4037																											TGCGGGCCCAGCTCCTGCCTC	0.667																																																	0																																												729218																															4.37:g.119554526G>A				RNA	SNP	-	NULL	ENST00000567913.2	37	NULL		4																																																																																			RP11-384K6.6	-	-		0.667	RP11-384K6.6-001	KNOWN	basic	lincRNA	LOC729218	Clone_based_vega_gene	lincRNA	OTTHUMT00000364170.2	G			119554526	+1	no_errors	ENST00000567913	ensembl	human	known	70_37	rna	SNP	0.956	A
LRP2	4036	genome.wustl.edu	37	2	170060714	170060714	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:170060714C>A	ENST00000263816.3	-	42	8068	c.7783G>T	c.(7783-7785)Gct>Tct	p.A2595S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2595					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)"""	AAGCCAAAAGCATGAACGGCT	0.428																																																	0													163.0	171.0	168.0					2																	170060714		2203	4300	6503	SO:0001583	missense	4036				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.7783G>T	2.37:g.170060714C>A	ENSP00000263816:p.Ala2595Ser		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_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A2595S	ENST00000263816.3	37	c.7783	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321735	0.23994	.	.	ENSG00000081479	ENST00000263816	D	0.96104	-3.91	5.78	0.288	0.15719	Six-bladed beta-propeller, TolB-like (1);	0.224065	0.47455	N	0.000234	D	0.85561	0.5725	N	0.05124	-0.11	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.71244	-0.4650	10	0.45353	T	0.12	.	5.4038	0.16310	0.0806:0.2417:0.538:0.1397	.	2595	P98164	LRP2_HUMAN	S	2595	ENSP00000263816:A2595S	ENSP00000263816:A2595S	A	-	1	0	LRP2	169768960	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	3.349000	0.52217	-0.257000	0.09459	-0.302000	0.09304	GCT	LRP2	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		170060714	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.983	A
LRP5	4041	genome.wustl.edu	37	11	68192732	68192732	+	Silent	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:68192732G>C	ENST00000294304.7	+	15	3505	c.3399G>C	c.(3397-3399)ctG>ctC	p.L1133L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1133	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACGCGGACCTGAAGCGCATTG	0.647																																																	0													82.0	57.0	66.0					11																	68192732		2200	4294	6494	SO:0001819	synonymous_variant	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3399G>C	11.37:g.68192732G>C			Q96TD6|Q9UES7|Q9UP66	Silent	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L1133	ENST00000294304.7	37	c.3399	CCDS8181.1	11																																																																																			LRP5	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDLR_classB_rpt		0.647	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	G	NM_002335		68192732	+1	no_errors	ENST00000294304	ensembl	human	known	70_37	silent	SNP	1.000	C
LRRC1	55227	genome.wustl.edu	37	6	53761333	53761333	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:53761333C>T	ENST00000370888.1	+	5	761	c.484C>T	c.(484-486)Ctt>Ttt	p.L162F		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	162						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GAGAGAGAATCTTCTTACATA	0.353																																																	0													155.0	164.0	161.0					6																	53761333		2202	4300	6502	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.484C>T	6.37:g.53761333C>T	ENSP00000359925:p.Leu162Phe		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L162F	ENST00000370888.1	37	c.484	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080201	0.36662	.	.	ENSG00000137269	ENST00000370888	T	0.09817	2.94	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.08447	0.0210	L	0.45228	1.405	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	T	0.23154	-1.0196	10	0.10111	T	0.7	.	8.1338	0.31043	0.0:0.8295:0.0:0.1705	.	162	Q9BTT6	LRRC1_HUMAN	F	162	ENSP00000359925:L162F	ENSP00000359925:L162F	L	+	1	0	LRRC1	53869292	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.159000	0.31749	2.618000	0.88619	0.655000	0.94253	CTT	LRRC1	-	smart_Leu-rich_rpt_typical-subtyp		0.353	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	C	NM_025168		53761333	+1	no_errors	ENST00000370888	ensembl	human	known	70_37	missense	SNP	1.000	T
LRSAM1	90678	genome.wustl.edu	37	9	130263375	130263375	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:130263375G>A	ENST00000323301.4	+	24	2603	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	LRSAM1_ENST00000373322.1_Missense_Mutation_p.E667K|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E667K|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E640K|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	667					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TCCCCCTGCAGAGCTGGAGGT	0.672																																																	0													55.0	53.0	54.0					9																	130263375		2203	4300	6503	SO:0001583	missense	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1999G>A	9.37:g.130263375G>A	ENSP00000322937:p.Glu667Lys		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.E667K	ENST00000323301.4	37	c.1999	CCDS6873.1	9	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182242	0.57800	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.11	4.19	0.49359	Zinc finger, RING/FYVE/PHD-type (1);	0.224065	0.39083	N	0.001478	T	0.45736	0.1357	N	0.08118	0	0.33639	D	0.607016	P;P	0.41978	0.767;0.657	B;B	0.38264	0.269;0.138	T	0.64914	-0.6295	10	0.66056	D	0.02	-23.7912	12.8121	0.57645	0.0:0.2074:0.7926:0.0	.	640;667	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	K	667;640;667;667	ENSP00000300417:E667K;ENSP00000362421:E640K;ENSP00000322937:E667K;ENSP00000362419:E667K	ENSP00000300417:E667K	E	+	1	0	LRSAM1	129303196	0.930000	0.31532	0.905000	0.35620	0.938000	0.57974	1.377000	0.34317	2.379000	0.81126	0.462000	0.41574	GAG	LRSAM1	-	NULL		0.672	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130263375	+1	no_errors	ENST00000300417	ensembl	human	known	70_37	missense	SNP	0.799	A
MAGEL2	54551	genome.wustl.edu	37	15	23890425	23890425	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:23890425T>C	ENST00000532292.1	-	1	750	c.656A>G	c.(655-657)cAg>cGg	p.Q219R		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	102					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AAAGGGATCCTGCAGAGCATA	0.572																																																	0													61.0	65.0	63.0					15																	23890425		1993	4173	6166	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.656A>G	15.37:g.23890425T>C	ENSP00000433433:p.Gln219Arg			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.Q219R	ENST00000532292.1	37	c.656		15	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049668	0.55218	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.21	1.82	0.25136	.	.	.	.	.	T	0.23133	0.0559	N	0.24115	0.695	0.24126	N	0.995787	.	.	.	.	.	.	T	0.22906	-1.0203	5	.	.	.	.	5.7162	0.17962	0.0:0.0936:0.1705:0.7358	.	.	.	.	G	251	.	.	R	-	1	2	MAGEL2	21441518	0.239000	0.23836	0.935000	0.37517	0.985000	0.73830	0.869000	0.27996	0.378000	0.24764	0.528000	0.53228	AGG	MAGEL2	-	NULL		0.572	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	T	NM_019066		23890425	-1	no_errors	ENST00000532292	ensembl	human	known	70_37	missense	SNP	0.988	C
MAP2	4133	genome.wustl.edu	37	2	210594966	210594966	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:210594966G>T	ENST00000360351.4	+	15	5835	c.5329G>T	c.(5329-5331)Gag>Tag	p.E1777*	MAP2_ENST00000361559.4_Nonsense_Mutation_p.E421*|MAP2_ENST00000392194.1_Nonsense_Mutation_p.E421*|MAP2_ENST00000199940.6_Nonsense_Mutation_p.E509*|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E1773*	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1777					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCATGGGGCTGAGATCATTAC	0.512																																					Pancreas(27;423 979 28787 29963)												0													91.0	82.0	85.0					2																	210594966		2203	4300	6503	SO:0001587	stop_gained	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5329G>T	2.37:g.210594966G>T	ENSP00000353508:p.Glu1777*		Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.E1777*	ENST00000360351.4	37	c.5329	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	47	13.389320	0.99739	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	.	.	.	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-18.7017	19.3354	0.94316	0.0:0.0:1.0:0.0	.	.	.	.	X	509;1777;421;421;1773	.	ENSP00000199940:E509X	E	+	1	0	MAP2	210303211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.571000	0.86741	0.650000	0.86243	GAG	MAP2	-	NULL		0.512	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210594966	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MBD4	8930	genome.wustl.edu	37	3	129151414	129151414	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:129151414C>A	ENST00000249910.1	-	7	1772	c.1597G>T	c.(1597-1599)Gag>Tag	p.E533*	MBD4_ENST00000429544.2_Nonsense_Mutation_p.E527*|MBD4_ENST00000507208.1_Nonsense_Mutation_p.E533*|MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000393278.2_Nonsense_Mutation_p.E215*|MBD4_ENST00000503197.1_Nonsense_Mutation_p.E533*	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	533					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CCATGAAGCTCAATTGGATAC	0.428								Base excision repair (BER), DNA glycosylases																																									0													211.0	196.0	201.0					3																	129151414		2203	4300	6503	SO:0001587	stop_gained	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1597G>T	3.37:g.129151414C>A	ENSP00000249910:p.Glu533*		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Nonsense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_integrase-typ,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd	p.E533*	ENST00000249910.1	37	c.1597	CCDS3058.1	3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133492	0.77662	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	.	.	.	5.65	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-24.5329	14.747	0.69496	0.0:0.9297:0.0:0.0703	.	.	.	.	X	527;533;533;215;533	.	ENSP00000249910:E533X	E	-	1	0	MBD4	130634104	1.000000	0.71417	0.969000	0.41365	0.985000	0.73830	7.249000	0.78278	1.539000	0.49286	0.650000	0.86243	GAG	MBD4	-	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,pirsf_Me_CpG-bd_MBD4		0.428	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBD4	HGNC	protein_coding	OTTHUMT00000355529.1	C	NM_003925		129151414	-1	no_errors	ENST00000249910	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MED12L	116931	genome.wustl.edu	37	3	151095907	151095907	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:151095907G>A	ENST00000474524.1	+	29	4357	c.4319G>A	c.(4318-4320)gGa>gAa	p.G1440E	MED12L_ENST00000273432.4_Missense_Mutation_p.G1300E|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1440						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGAGAAGGGACAGCACTTG	0.517																																																	0													71.0	66.0	68.0					3																	151095907		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4319G>A	3.37:g.151095907G>A	ENSP00000417235:p.Gly1440Glu		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.G1440E	ENST00000474524.1	37	c.4319	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.093926	0.94149	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.62639	0.21;0.01	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	T	0.79446	-0.1800	10	0.87932	D	0	-16.6913	19.5083	0.95130	0.0:0.0:1.0:0.0	.	1300;1439;1440	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	E	1440;1300	ENSP00000417235:G1440E;ENSP00000273432:G1300E	ENSP00000273432:G1300E	G	+	2	0	MED12L	152578597	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.044000	0.93805	2.721000	0.93114	0.655000	0.94253	GGA	MED12L	-	NULL		0.517	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	G	NM_053002		151095907	+1	no_errors	ENST00000474524	ensembl	human	known	70_37	missense	SNP	1.000	A
METTL9	51108	genome.wustl.edu	37	16	21629232	21629232	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:21629232C>T	ENST00000358154.3	+	3	661	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	METTL9_ENST00000396014.4_Nonsense_Mutation_p.Q135*	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	135										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		AGATCAGTTTCAGAGACTGCT	0.398																																																	0													152.0	147.0	149.0					16																	21629232		2199	4300	6499	SO:0001587	stop_gained	51108			NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"""DORA reverse strand protein 1"""	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.403C>T	16.37:g.21629232C>T	ENSP00000350874:p.Gln135*		Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Nonsense_Mutation	SNP	pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11	p.Q135*	ENST00000358154.3	37	c.403	CCDS10598.2	16	.	.	.	.	.	.	.	.	.	.	C	39	7.390260	0.98255	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.17	6.17	0.99709	.	0.099859	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-8.9383	18.3732	0.90420	0.0:1.0:0.0:0.0	.	.	.	.	X	135;135;99	.	ENSP00000350874:Q135X	Q	+	1	0	METTL9	21536733	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.531000	0.81973	2.941000	0.99782	0.655000	0.94253	CAG	METTL9	-	pfam_DREV_MeTrfase		0.398	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METTL9	HGNC	protein_coding	OTTHUMT00000254465.1	C	NM_016025		21629232	+1	no_errors	ENST00000358154	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MEX3A	92312	genome.wustl.edu	37	1	156051708	156051708	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:156051708C>T	ENST00000532414.2	-	1	81	c.82G>A	c.(82-84)Gac>Aac	p.D28N	MEX3A_ENST00000442784.1_5'Flank|LMNA_ENST00000368301.2_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	28						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGCCCTCGGTCCTTAGCGCTT	0.602																																																	0													19.0	20.0	20.0					1																	156051708		1428	2854	4282	SO:0001583	missense	92312			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.82G>A	1.37:g.156051708C>T	ENSP00000432845:p.Asp28Asn			Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.D28N	ENST00000532414.2	37	c.82	CCDS53377.1	1	.	.	.	.	.	.	.	.	.	.	c	15.93	2.976856	0.53720	.	.	ENSG00000254726	ENST00000532414	T	0.49720	0.77	2.2	2.2	0.27929	.	0.516049	0.12762	U	0.441222	T	0.09024	0.0223	N	0.08118	0	0.29753	N	0.83621	P	0.51933	0.949	B	0.36845	0.234	T	0.02917	-1.1094	10	0.27082	T	0.32	.	7.9291	0.29891	0.0:1.0:0.0:0.0	.	28	A1L020	MEX3A_HUMAN	N	28	ENSP00000432845:D28N	ENSP00000432845:D28N	D	-	1	0	MEX3A	154318332	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.906000	0.28517	1.232000	0.43678	0.403000	0.27427	GAC	MEX3A	-	NULL		0.602	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3A	HGNC	protein_coding	OTTHUMT00000046218.3	C	NM_001093725		156051708	-1	no_errors	ENST00000532414	ensembl	human	known	70_37	missense	SNP	1.000	T
MEX3C	51320	genome.wustl.edu	37	18	48723052	48723052	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:48723052C>T	ENST00000592416.1	-	1	77	c.78G>A	c.(76-78)gcG>gcA	p.A26A	MEX3C_ENST00000591040.1_Intron			Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C	213					chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		GGGCGGCCGCCGCCGCCCCAC	0.746																																																	0													6.0	5.0	5.0					18																	48723052		1833	3679	5512	SO:0001819	synonymous_variant	51320			BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000592416.1:c.78G>A	18.37:g.48723052C>T			A1L022|Q9NZE3	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.A213	ENST00000592416.1	37	c.639		18																																																																																			MEX3C	-	NULL		0.746	MEX3C-002	PUTATIVE	mRNA_start_NF|cds_start_NF|basic	protein_coding	MEX3C	HGNC	protein_coding	OTTHUMT00000449560.1	C	NM_016626		48723052	-1	no_errors	ENST00000406189	ensembl	human	known	70_37	silent	SNP	1.000	T
MEX3D	399664	genome.wustl.edu	37	19	1556818	1556818	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:1556818C>A	ENST00000402693.4	-	2	699	c.700G>T	c.(700-702)Gag>Tag	p.E234*	MEX3D_ENST00000388824.6_Nonsense_Mutation_p.E234*|AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	234	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGCCATCTCCACGTCCTCC	0.677																																																	0													32.0	33.0	33.0					19																	1556818		2201	4288	6489	SO:0001587	stop_gained	399664			AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.700G>T	19.37:g.1556818C>A	ENSP00000384398:p.Glu234*		A0PJL8|A1L023|E9PAL6|Q71M49	Nonsense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.E234*	ENST00000402693.4	37	c.700	CCDS32865.2	19	.	.	.	.	.	.	.	.	.	.	C	35	5.504601	0.96371	.	.	ENSG00000181588	ENST00000355663;ENST00000402693;ENST00000388824	.	.	.	4.63	4.63	0.57726	.	0.062602	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-21.136	16.4484	0.83959	0.0:1.0:0.0:0.0	.	.	.	.	X	124;234;234	.	ENSP00000347885:E124X	E	-	1	0	MEX3D	1507818	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.608000	0.67654	2.125000	0.65367	0.491000	0.48974	GAG	MEX3D	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.677	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MEX3D	HGNC	protein_coding	OTTHUMT00000317870.2	C	NM_203304		1556818	-1	no_errors	ENST00000388824	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MIS18A	54069	genome.wustl.edu	37	21	33647158	33647158	+	Silent	SNP	A	A	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr21:33647158A>C	ENST00000290130.3	-	2	438	c.384T>G	c.(382-384)cgT>cgG	p.R128R		NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	128					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TTTCCTTTTCACGTTTGGATA	0.279																																																	0													92.0	86.0	88.0					21																	33647158		2202	4300	6502	SO:0001819	synonymous_variant	54069			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.384T>G	21.37:g.33647158A>C			B2R562|Q542Z0	Silent	SNP	NULL	p.R128	ENST00000290130.3	37	c.384	CCDS13611.1	21																																																																																			MIS18A	-	NULL		0.279	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18A	HGNC	protein_coding	OTTHUMT00000193090.1	A	NM_018944		33647158	-1	no_errors	ENST00000290130	ensembl	human	known	70_37	silent	SNP	0.494	C
MLH3	27030	genome.wustl.edu	37	14	75485617	75485617	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr14:75485617G>A	ENST00000556740.1	-	11	4192	c.4157C>T	c.(4156-4158)tCa>tTa	p.S1386L	RNU6-689P_ENST00000384197.1_RNA|MLH3_ENST00000238662.7_Missense_Mutation_p.S1362L|MLH3_ENST00000380968.2_Missense_Mutation_p.S324L|MLH3_ENST00000556257.1_Missense_Mutation_p.S1208L|MLH3_ENST00000355774.2_Missense_Mutation_p.S1386L			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1386					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CAGCTGGCATGAGGACAGAGC	0.453								Mismatch excision repair (MMR)																																									0													107.0	96.0	100.0					14																	75485617		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.4157C>T	14.37:g.75485617G>A	ENSP00000452316:p.Ser1386Leu		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.S1386L	ENST00000556740.1	37	c.4157	CCDS32123.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.077|5.077	0.199875|0.199875	0.09652|0.09652	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000553713|ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740	.|T;T;T;T;T	.|0.75477	.|-0.94;-0.94;-0.94;-0.94;-0.94	5.7|5.7	-0.949|-0.949	0.10376|0.10376	.|.	.|0.882868	.|0.10404	.|N	.|0.678829	T|T	0.47985|0.47985	0.1475|0.1475	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.001	T|T	0.26395|0.26395	-1.0104|-1.0104	5|10	.|0.11182	.|T	.|0.66	6.406|6.406	3.2056|3.2056	0.06665|0.06665	0.2302:0.4385:0.1964:0.1349|0.2302:0.4385:0.1964:0.1349	.|.	.|1362;1386	.|Q9UHC1-2;Q9UHC1	.|.;MLH3_HUMAN	Y|L	410|1386;324;1362;1208;1386	.|ENSP00000348020:S1386L;ENSP00000370355:S324L;ENSP00000238662:S1362L;ENSP00000451540:S1208L;ENSP00000452316:S1386L	.|ENSP00000238662:S1362L	H|S	-|-	1|2	0|0	MLH3|MLH3	74555370|74555370	0.003000|0.003000	0.15002|0.15002	0.514000|0.514000	0.27761|0.27761	0.072000|0.072000	0.16883|0.16883	0.730000|0.730000	0.26043|0.26043	-0.032000|-0.032000	0.13758|0.13758	-1.408000|-1.408000	0.01128|0.01128	CAT|TCA	MLH3	-	NULL		0.453	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	G	NM_014381		75485617	-1	no_errors	ENST00000355774	ensembl	human	known	70_37	missense	SNP	0.003	A
MT1E	4493	genome.wustl.edu	37	16	56660709	56660709	+	Intron	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:56660709G>A	ENST00000306061.6	+	3	471				MT1E_ENST00000568293.1_Intron|MT1E_ENST00000330439.6_Silent_p.L120L	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E						cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										TCTGGGTTCTGAGCTCGAGCC	0.562																																																	0																																										SO:0001627	intron_variant	4493			BC009699	CCDS10764.2	16q13	2008-08-11	2007-03-02		ENSG00000169715	ENSG00000169715		"""Metallothioneins"""	7397	protein-coding gene	gene with protein product		156351		MT1		6089206, 2581970	Standard	XM_005255956		Approved	MTD	uc002ejl.3	P04732	OTTHUMG00000133014	ENST00000306061.6:c.95-83G>A	16.37:g.56660709G>A			A2RRF7|Q86YX4|Q8TD51	Silent	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom	p.L120	ENST00000306061.6	37	c.360	CCDS10764.2	16																																																																																			MT1E	-	NULL		0.562	MT1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1E	HGNC	protein_coding	OTTHUMT00000256600.1	G	NM_175617		56660709	+1	no_errors	ENST00000330439	ensembl	human	putative	70_37	silent	SNP	0.000	A
MUSK	4593	genome.wustl.edu	37	9	113547810	113547810	+	Missense_Mutation	SNP	A	A	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:113547810A>C	ENST00000374448.4	+	13	1724	c.1590A>C	c.(1588-1590)gaA>gaC	p.E530D	MUSK_ENST00000374438.1_Missense_Mutation_p.E46D|MUSK_ENST00000416899.2_Missense_Mutation_p.E522D|MUSK_ENST00000189978.5_Missense_Mutation_p.E530D	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	530					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCTGCAGAGAATCAGCAGCAG	0.458																																																	0													203.0	197.0	199.0					9																	113547810		2015	4171	6186	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1590A>C	9.37:g.113547810A>C	ENSP00000363571:p.Glu530Asp		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E536D	ENST00000374448.4	37	c.1608	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771064	0.49680	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.81821	-0.81;-1.54	5.86	2.25	0.28309	.	0.170971	0.52532	D	0.000070	T	0.75642	0.3877	L	0.56769	1.78	0.80722	D	1	D	0.54397	0.966	P	0.45167	0.472	T	0.69687	-0.5078	10	0.34782	T	0.22	.	8.4224	0.32710	0.5744:0.0:0.4256:0.0	.	530	O15146	MUSK_HUMAN	D	536;530;530;444;444;46;528;46	ENSP00000363571:E530D;ENSP00000363561:E46D	ENSP00000189978:E536D	E	+	3	2	MUSK	112587631	0.926000	0.31397	0.998000	0.56505	0.977000	0.68977	0.024000	0.13555	0.143000	0.18926	0.533000	0.62120	GAA	MUSK	-	NULL		0.458	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		A			113547810	+1	no_errors	ENST00000189978	ensembl	human	known	70_37	missense	SNP	1.000	C
MYH8	4626	genome.wustl.edu	37	17	10302917	10302917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:10302917G>A	ENST00000403437.2	-	28	3899	c.3805C>T	c.(3805-3807)Cag>Tag	p.Q1269*	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1269					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCCGCTGCTGCTCCTCTTCC	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													142.0	130.0	134.0					17																	10302917		2203	4300	6503	SO:0001587	stop_gained	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3805C>T	17.37:g.10302917G>A	ENSP00000384330:p.Gln1269*		Q14910	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1269*	ENST00000403437.2	37	c.3805	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.362211	0.99148	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.38	4.39	0.52855	.	0.183571	0.26258	U	0.025405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	15.4802	0.75521	0.0:0.0:0.8605:0.1395	.	.	.	.	X	1269	.	ENSP00000252173:Q1269X	Q	-	1	0	MYH8	10243642	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.476000	0.22180	1.467000	0.48044	0.655000	0.94253	CAG	MYH8	-	pfam_Myosin_tail,superfamily_Prefoldin		0.488	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10302917	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MYL1	4632	genome.wustl.edu	37	2	211179765	211179766	+	Start_Codon_Ins	INS	-	-	T	rs544557603	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:211179765_211179766insT	ENST00000352451.3	-	0	148_149					NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast						cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CTTTGGTGCCATTTTTTTTTTT	0.525														203	0.0405351	0.1165	0.0101	5008	,	,		15517	0.0169		0.008	False		,,,				2504	0.0174																0																																										SO:0001582	initiator_codon_variant	4632				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.2dupA	2.37:g.211179776_211179776dupT			B2R4N6|B2R4T6|P06741|Q6IBD5	Frame_Shift_Ins	INS	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.M1fs	ENST00000352451.3	37	c.2_1	CCDS2390.1	2																																																																																			MYL1	-	NULL		0.525	MYL1-001	KNOWN	basic|CCDS	protein_coding	MYL1	HGNC	protein_coding	OTTHUMT00000256566.2	-	NM_079420		211179766	-1	no_errors	ENST00000352451	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
MYO1H	283446	genome.wustl.edu	37	12	109843778	109843778	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:109843778G>C	ENST00000431443.2	+	7	853	c.853G>C	c.(853-855)Gaa>Caa	p.E285Q	MYO1H_ENST00000310903.5_Missense_Mutation_p.E285Q|MYO1H_ENST00000542883.1_3'UTR	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	285	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						CATTGGTTTTGAAGAAGACGA	0.488																																																	0													99.0	91.0	93.0					12																	109843778		1931	4148	6079	SO:0001583	missense	283446				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.853G>C	12.37:g.109843778G>C	ENSP00000444076:p.Glu285Gln		F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E285Q	ENST00000431443.2	37	c.853		12	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325108	0.24080	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.87571	-2.27;-2.27	4.88	-0.139	0.13460	.	.	.	.	.	T	0.76948	0.4059	L	0.39633	1.23	0.24190	N	0.995559	B	0.06786	0.001	B	0.11329	0.006	T	0.57027	-0.7881	9	0.10902	T	0.67	.	6.1102	0.20096	0.271:0.1298:0.5993:0.0	.	285	F5H3C6	.	Q	285	ENSP00000439182:E285Q;ENSP00000444076:E285Q	ENSP00000439182:E285Q	E	+	1	0	MYO1H	108328161	1.000000	0.71417	0.515000	0.27774	0.976000	0.68499	2.686000	0.46968	-0.132000	0.11557	0.650000	0.86243	GAA	MYO1H	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.488	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		G	NM_173597		109843778	+1	no_errors	ENST00000431443	ensembl	human	known	70_37	missense	SNP	0.998	C
MYO5B	4645	genome.wustl.edu	37	18	47429194	47429194	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:47429194C>G	ENST00000285039.7	-	21	2880	c.2581G>C	c.(2581-2583)Gag>Cag	p.E861Q	MYO5B_ENST00000324581.6_Missense_Mutation_p.E2Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	861	Arg-rich.|IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)		GCCTTGTGCTCCATGAGGACC	0.587																																																	0													22.0	24.0	23.0					18																	47429194		2086	4212	6298	SO:0001583	missense	4645			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.2581G>C	18.37:g.47429194C>G	ENSP00000285039:p.Glu861Gln		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.E861Q	ENST00000285039.7	37	c.2581	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160236	0.38119	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;D	0.95377	-2.22;-3.69	5.63	4.75	0.60458	.	0.193063	0.44285	D	0.000465	D	0.90943	0.7153	L	0.28115	0.83	0.40588	D	0.981461	B;B	0.25667	0.124;0.131	B;B	0.26202	0.067;0.063	D	0.87841	0.2651	10	0.19147	T	0.46	.	14.8289	0.70132	0.0:0.7268:0.2732:0.0	.	861;2	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	Q	861;2	ENSP00000285039:E861Q;ENSP00000315531:E2Q	ENSP00000285039:E861Q	E	-	1	0	MYO5B	45683192	0.998000	0.40836	0.939000	0.37840	0.877000	0.50540	3.031000	0.49728	1.488000	0.48433	0.655000	0.94253	GAG	MYO5B	-	smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.587	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	C			47429194	-1	no_errors	ENST00000285039	ensembl	human	known	70_37	missense	SNP	0.937	G
NAV3	89795	genome.wustl.edu	37	12	78334047	78334047	+	Intron	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:78334047G>T	ENST00000397909.2	+	2	416				NAV3_ENST00000536525.2_Intron|NAV3_ENST00000228327.6_Intron|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3							membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCATTTTATTGTCTCTGTTTT	0.403										HNSCC(70;0.22)																																							0													251.0	260.0	257.0					12																	78334047		876	1991	2867	SO:0001627	intron_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.244-52G>T	12.37:g.78334047G>T			Q8NFW7|Q9Y2E7	RNA	SNP	-	NULL	ENST00000397909.2	37	NULL		12																																																																																			NAV3	-	-		0.403	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78334047	+1	no_errors	ENST00000549369	ensembl	human	putative	70_37	rna	SNP	1.000	T
NBPF1	55672	genome.wustl.edu	37	1	16890342	16890342	+	3'UTR	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:16890342C>T	ENST00000430580.2	-	0	4403					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CATCCTATGTCTGGGCTTCCA	0.493																																																	0																																										SO:0001624	3_prime_UTR_variant	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.*96G>A	1.37:g.16890342C>T			Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-		0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	C	NM_017940		16890342	-1	no_errors	ENST00000401007	ensembl	human	known	70_37	rna	SNP	0.005	T
NCSTN	23385	genome.wustl.edu	37	1	160326700	160326700	+	Intron	SNP	G	G	T	rs565393836		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:160326700G>T	ENST00000294785.5	+	16	1919				NCSTN_ENST00000392212.4_Intron|NCSTN_ENST00000368063.1_Intron|NCSTN_ENST00000368065.4_Intron|NCSTN_ENST00000535857.1_Intron	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTGAAAATGGACCATCTGAA	0.507																																																	0																																										SO:0001627	intron_variant	23385			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1795-131G>T	1.37:g.160326700G>T			Q5T207|Q5T208|Q86VV5	RNA	SNP	-	NULL	ENST00000294785.5	37	NULL	CCDS1203.1	1																																																																																			NCSTN	-	-		0.507	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	G	NM_015331		160326700	+1	no_errors	ENST00000469159	ensembl	human	known	70_37	rna	SNP	0.000	T
NEK10	152110	genome.wustl.edu	37	3	27387639	27387639	+	Silent	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:27387639A>G	ENST00000429845.2	-	5	563	c.201T>C	c.(199-201)ggT>ggC	p.G67G	NEK10_ENST00000341435.5_Silent_p.G67G			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	67			G -> S (in dbSNP:rs55958314). {ECO:0000269|PubMed:17344846}.		positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCTGTGTCCACCCGCCCTGA	0.468																																																	0													102.0	96.0	98.0					3																	27387639		1568	3582	5150	SO:0001819	synonymous_variant	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.201T>C	3.37:g.27387639A>G			A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,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.G67	ENST00000429845.2	37	c.201		3																																																																																			NEK10	-	NULL		0.468	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	A	NM_152534		27387639	-1	no_errors	ENST00000341435	ensembl	human	known	70_37	silent	SNP	0.440	G
NEK2	4751	genome.wustl.edu	37	1	211847840	211847840	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:211847840C>G	ENST00000366999.4	-	2	250	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	NEK2_ENST00000366998.3_Missense_Mutation_p.E38Q|NEK2_ENST00000540251.1_5'UTR|RP11-122M14.1_ENST00000415202.1_RNA	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	38	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TAGTCAAGTTCTTTCCAAACT	0.343																																																	0													39.0	35.0	36.0					1																	211847840		2203	4300	6503	SO:0001583	missense	4751			U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.112G>C	1.37:g.211847840C>G	ENSP00000355966:p.Glu38Gln		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E38Q	ENST00000366999.4	37	c.112	CCDS1500.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639469	0.87760	.	.	ENSG00000117650	ENST00000366999;ENST00000366998	T;T	0.24350	1.86;1.86	4.45	4.45	0.53987	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053171	0.85682	D	0.000000	T	0.30696	0.0773	N	0.25031	0.7	0.80722	D	1	P;P;P	0.47545	0.708;0.897;0.874	P;P;P	0.53401	0.466;0.725;0.466	T	0.08391	-1.0724	10	0.46703	T	0.11	.	17.4648	0.87629	0.0:1.0:0.0:0.0	.	38;38;38	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	Q	38	ENSP00000355966:E38Q;ENSP00000355965:E38Q	ENSP00000355965:E38Q	E	-	1	0	NEK2	209914463	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.538000	0.82048	2.175000	0.68902	0.591000	0.81541	GAA	NEK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.343	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NEK2	HGNC	protein_coding	OTTHUMT00000090154.1	C	NM_002497		211847840	-1	no_errors	ENST00000366999	ensembl	human	known	70_37	missense	SNP	1.000	G
NFE2L1	4779	genome.wustl.edu	37	17	46135813	46135813	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:46135813C>T	ENST00000362042.3	+	6	1745	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	NFE2L1_ENST00000536222.1_Missense_Mutation_p.L221F|NFE2L1_ENST00000585291.1_Missense_Mutation_p.L347F|NFE2L1_ENST00000357480.5_Missense_Mutation_p.L347F|NFE2L1_ENST00000583378.1_Missense_Mutation_p.L178F|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000361665.3_Missense_Mutation_p.L366F|NFE2L1_ENST00000582155.1_Missense_Mutation_p.L189F	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	377					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.L377V(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGACTTCTTACTCTTCAGCCC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											94.0	97.0	96.0					17																	46135813		2203	4300	6503	SO:0001583	missense	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1129C>T	17.37:g.46135813C>T	ENSP00000354855:p.Leu377Phe		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L377F	ENST00000362042.3	37	c.1129	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	C	9.649	1.141091	0.21205	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;D;D	0.95949	2.94;-3.86;-3.86	5.65	5.65	0.86999	.	0.419839	0.26149	N	0.026049	D	0.96522	0.8865	L	0.50333	1.59	0.53005	D	0.999965	D;D;D;D	0.62365	0.989;0.986;0.986;0.991	P;P;P;P	0.62382	0.84;0.809;0.775;0.901	D	0.96053	0.9033	10	0.45353	T	0.12	-39.9864	18.4922	0.90852	0.0:1.0:0.0:0.0	.	221;189;347;377	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	F	396;377;347;221	ENSP00000354855:L396F;ENSP00000350072:L347F;ENSP00000445811:L221F	ENSP00000350072:L347F	L	+	1	0	NFE2L1	43490812	0.969000	0.33509	0.963000	0.40424	0.984000	0.73092	2.131000	0.42074	2.661000	0.90470	0.655000	0.94253	CTC	NFE2L1	-	NULL		0.612	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	C	NM_003204		46135813	+1	no_errors	ENST00000362042	ensembl	human	known	70_37	missense	SNP	0.999	T
NFKBID	84807	genome.wustl.edu	37	19	36393171	36393171	+	5'UTR	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:36393171C>G	ENST00000606253.1	-	0	34				NFKBID_ENST00000352614.2_Missense_Mutation_p.L5F|NFKBID_ENST00000585544.1_5'Flank|HCST_ENST00000246551.4_5'Flank|NFKBID_ENST00000396901.1_5'Flank|HCST_ENST00000437550.2_5'Flank			Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta						inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						ggatccctctcaaacacaccc	0.498																																																	0																																										SO:0001623	5_prime_UTR_variant	84807			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000606253.1:c.-442G>C	19.37:g.36393171C>G			Q8NI39|Q9BRG9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L5F	ENST00000606253.1	37	c.15	CCDS42552.1	19	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978365	0.34942	.	.	ENSG00000167604	ENST00000352614	T	0.58940	0.3	3.17	-0.535	0.11879	.	.	.	.	.	T	0.51770	0.1694	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.50947	-0.8767	6	0.87932	D	0	.	5.6201	0.17453	0.0:0.3557:0.0:0.6443	.	.	.	.	F	5	ENSP00000252985:L5F	ENSP00000252985:L5F	L	-	3	2	NFKBID	41085011	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.125000	0.15749	-0.077000	0.12752	-0.136000	0.14681	TTG	NFKBID	-	NULL		0.498	NFKBID-012	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|CCDS	protein_coding	NFKBID	HGNC	protein_coding	OTTHUMT00000471342.1	C	NM_032721		36393171	-1	no_errors	ENST00000352614	ensembl	human	known	70_37	missense	SNP	0.000	G
NME8	51314	genome.wustl.edu	37	7	37936496	37936496	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:37936496G>A	ENST00000199447.4	+	17	1941	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.L523L	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	523	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TCATGATTCTGACCAAGTGGA	0.483																																																	0													117.0	112.0	114.0					7																	37936496		2203	4300	6503	SO:0001819	synonymous_variant	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1569G>A	7.37:g.37936496G>A			Q9NZH1	Silent	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.L523	ENST00000199447.4	37	c.1569	CCDS5452.1	7																																																																																			NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase		0.483	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	G	NM_016616		37936496	+1	no_errors	ENST00000199447	ensembl	human	known	70_37	silent	SNP	1.000	A
NOL9	79707	genome.wustl.edu	37	1	6614166	6614166	+	Splice_Site	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:6614166C>T	ENST00000377705.5	-	1	429		c.e1+1		TAS1R1_ENST00000333172.6_5'Flank|TAS1R1_ENST00000328191.4_5'Flank|TAS1R1_ENST00000351136.3_5'Flank	NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9						maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCACCTACCTGCTCGACC	0.736																																																	0													3.0	3.0	3.0					1																	6614166		1559	3158	4717	SO:0001630	splice_region_variant	79707			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.396+1G>A	1.37:g.6614166C>T			Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Splice_Site	SNP	-	e1+1	ENST00000377705.5	37	c.396+1	CCDS80.1	1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548269	0.45383	.	.	ENSG00000162408	ENST00000377705	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6842	0.51476	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOL9	6536753	0.976000	0.34144	0.669000	0.29828	0.033000	0.12548	1.526000	0.35964	2.188000	0.69820	0.511000	0.50034	.	NOL9	-	-		0.736	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	HGNC	protein_coding	OTTHUMT00000002625.1	C	NM_024654	Intron	6614166	-1	no_errors	ENST00000377705	ensembl	human	known	70_37	splice_site	SNP	0.751	T
NRXN2	9379	genome.wustl.edu	37	11	64428457	64428457	+	Silent	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:64428457C>G	ENST00000377551.1	-	9	2164	c.1953G>C	c.(1951-1953)cgG>cgC	p.R651R	NRXN2_ENST00000377559.3_Silent_p.R620R|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Silent_p.R644R|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000265459.6_Silent_p.R651R			Q9P2S2	NRX2A_HUMAN	neurexin 2	651	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGTAGCCTGCCCGGAGTGCTG	0.687																																																	0													31.0	31.0	31.0					11																	64428457		2201	4296	6497	SO:0001819	synonymous_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1953G>C	11.37:g.64428457C>G			A7E2C1|Q9Y2D6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R651	ENST00000377551.1	37	c.1953	CCDS8077.1	11																																																																																			NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.687	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	C	NM_015080		64428457	-1	no_errors	ENST00000265459	ensembl	human	known	70_37	silent	SNP	0.309	G
NTNG2	84628	genome.wustl.edu	37	9	135073664	135073664	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:135073664C>T	ENST00000393229.3	+	3	1301	c.525C>T	c.(523-525)ttC>ttT	p.F175F	NTNG2_ENST00000372179.3_Silent_p.F175F|NTNG2_ENST00000393228.4_Silent_p.F175F|NTNG2_ENST00000360670.3_Silent_p.F175F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	175	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGGAGGCCTTCGGTATGTCCG	0.672																																																	0													31.0	25.0	27.0					9																	135073664		2199	4295	6494	SO:0001819	synonymous_variant	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.525C>T	9.37:g.135073664C>T			Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.F175	ENST00000393229.3	37	c.525	CCDS6946.1	9																																																																																			NTNG2	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.672	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	C	NM_032536		135073664	+1	no_errors	ENST00000360670	ensembl	human	known	70_37	silent	SNP	1.000	T
NUP155	9631	genome.wustl.edu	37	5	37364401	37364401	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:37364401G>C	ENST00000231498.3	-	2	446	c.243C>G	c.(241-243)atC>atG	p.I81M	NUP155_ENST00000381843.2_Missense_Mutation_p.I22M|NUP155_ENST00000513532.1_Missense_Mutation_p.I81M	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	81					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGATGGAACTGATCTCTGGAA	0.388																																																	0													81.0	75.0	77.0					5																	37364401		2203	4300	6503	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.243C>G	5.37:g.37364401G>C	ENSP00000231498:p.Ile81Met		Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.I81M	ENST00000231498.3	37	c.243	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	G	8.285	0.816336	0.16607	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.47869	0.83;0.83;0.83	5.39	3.62	0.41486	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.099999	0.64402	N	0.000002	T	0.32763	0.0840	N	0.22421	0.69	0.42680	D	0.993546	B;B	0.32968	0.392;0.056	B;B	0.37989	0.262;0.141	T	0.08207	-1.0733	10	0.31617	T	0.26	.	6.7417	0.23439	0.0699:0.1288:0.6675:0.1337	.	81;81	E9PF10;O75694	.;NU155_HUMAN	M	81;22;43;81	ENSP00000231498:I81M;ENSP00000371265:I22M;ENSP00000422019:I81M	ENSP00000231498:I81M	I	-	3	3	NUP155	37400158	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.463000	0.45058	0.669000	0.31146	-0.223000	0.12442	ATC	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_N		0.388	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	G	NM_153485, NM_004298		37364401	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	missense	SNP	1.000	C
NUP188	23511	genome.wustl.edu	37	9	131765678	131765678	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:131765678C>T	ENST00000372577.2	+	38	4400	c.4379C>T	c.(4378-4380)tCt>tTt	p.S1460F	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1460					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTGCAGCTCTCTAACTTCATG	0.567																																																	0													127.0	119.0	122.0					9																	131765678		2203	4300	6503	SO:0001583	missense	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4379C>T	9.37:g.131765678C>T	ENSP00000361658:p.Ser1460Phe		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.S1460F	ENST00000372577.2	37	c.4379	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802353	0.90538	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.37058	1.22	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.60881	0.2303	M	0.65975	2.015	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.78314	0.862;0.991	T	0.59979	-0.7352	10	0.59425	D	0.04	-14.0018	19.0419	0.93004	0.0:1.0:0.0:0.0	.	793;1460	E9PET9;Q5SRE5	.;NU188_HUMAN	F	1349;1460	ENSP00000361658:S1460F	ENSP00000349125:S1349F	S	+	2	0	NUP188	130805499	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.487000	0.81328	2.758000	0.94735	0.561000	0.74099	TCT	NUP188	-	NULL		0.567	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131765678	+1	no_errors	ENST00000372577	ensembl	human	known	70_37	missense	SNP	1.000	T
OAZ2	4947	genome.wustl.edu	37	15	64981338	64981338	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:64981338C>T	ENST00000326005.6	-	5	616	c.384G>A	c.(382-384)gaG>gaA	p.E128E	OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560258.2_Intron|OAZ2_ENST00000560837.1_5'Flank			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	128					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ornithine decarboxylase inhibitor activity (GO:0008073)									L-Ornithine(DB00129)	CTTTCATCTTCTCTTCAGCAA	0.517																																																	0													43.0	44.0	44.0					15																	64981338		2171	4278	6449	SO:0001819	synonymous_variant	4947			AF057297	CCDS58372.1	15q22.31	2006-05-11				ENSG00000180304			8096	protein-coding gene	gene with protein product		604152				9782076, 10352227	Standard	NM_002537		Approved		uc002ano.2	O95190		ENST00000326005.6:c.384G>A	15.37:g.64981338C>T				Silent	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.E128	ENST00000326005.6	37	c.384	CCDS58372.1	15																																																																																			OAZ2	-	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase		0.517	OAZ2-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	OAZ2	HGNC	protein_coding	OTTHUMT00000418707.2	C	NM_002537		64981338	-1	no_errors	ENST00000326005	ensembl	human	known	70_37	silent	SNP	1.000	T
OLFML3	56944	genome.wustl.edu	37	1	114522252	114522252	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:114522252G>A	ENST00000320334.4	+	1	188	c.114G>A	c.(112-114)gaG>gaA	p.E38E	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_5'UTR|OLFML3_ENST00000393300.2_5'Flank	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	38					multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTTTAGAGGTGAGGGACC	0.537											OREG0013687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86.0	78.0	81.0					1																	114522252		2203	4300	6503	SO:0001630	splice_region_variant	56944			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.114+1G>A	1.37:g.114522252G>A		1458	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.E38	ENST00000320334.4	37	c.114	CCDS870.1	1																																																																																			OLFML3	-	NULL		0.537	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	HGNC	protein_coding	OTTHUMT00000033119.1	G	NM_020190	Silent	114522252	+1	no_errors	ENST00000320334	ensembl	human	known	70_37	silent	SNP	1.000	A
OR10J3	441911	genome.wustl.edu	37	1	159283820	159283820	+	Silent	SNP	T	T	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:159283820T>A	ENST00000332217.5	-	1	629	c.630A>T	c.(628-630)ctA>ctT	p.L210L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGCCCATAGGTAGAACAAGGA	0.488																																																	0													164.0	147.0	153.0					1																	159283820		2203	4300	6503	SO:0001819	synonymous_variant	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.630A>T	1.37:g.159283820T>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L210	ENST00000332217.5	37	c.630	CCDS30909.1	1																																																																																			OR10J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.488	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	HGNC	protein_coding	OTTHUMT00000090629.1	T			159283820	-1	no_errors	ENST00000332217	ensembl	human	known	70_37	silent	SNP	0.044	A
OR10J3	441911	genome.wustl.edu	37	1	159283925	159283925	+	Silent	SNP	G	G	A	rs148327372	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:159283925G>A	ENST00000332217.5	-	1	524	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGAAGTGGGAGATGACAAAGG	0.502																																																	0													75.0	68.0	70.0					1																	159283925		2203	4300	6503	SO:0001819	synonymous_variant	441911				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.525C>T	1.37:g.159283925G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I175	ENST00000332217.5	37	c.525	CCDS30909.1	1																																																																																			OR10J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	HGNC	protein_coding	OTTHUMT00000090629.1	G			159283925	-1	no_errors	ENST00000332217	ensembl	human	known	70_37	silent	SNP	0.133	A
OR11H12	440153	genome.wustl.edu	37	14	19377962	19377962	+	Silent	SNP	T	T	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr14:19377962T>C	ENST00000550708.1	+	1	441	c.369T>C	c.(367-369)ggT>ggC	p.G123G		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	123						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(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTTTGGGTACATCAGAAT	0.418																																																	0													2.0	2.0	2.0					14																	19377962		756	1862	2618	SO:0001819	synonymous_variant	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.369T>C	14.37:g.19377962T>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G123	ENST00000550708.1	37	c.369	CCDS32017.1	14																																																																																			OR11H12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.418	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	T	NM_001013354		19377962	+1	no_errors	ENST00000550708	ensembl	human	known	70_37	silent	SNP	0.010	C
OR2A12	346525	genome.wustl.edu	37	7	143792960	143792960	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:143792960G>A	ENST00000408949.2	+	1	820	c.760G>A	c.(760-762)Gcc>Acc	p.A254T		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	254						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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTTTGGCAGCGCCATTGTCAT	0.562																																																	0													143.0	139.0	140.0					7																	143792960		1926	4146	6072	SO:0001583	missense	346525				CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.760G>A	7.37:g.143792960G>A	ENSP00000386174:p.Ala254Thr		Q6IF43	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A254T	ENST00000408949.2	37	c.760	CCDS43670.1	7	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141922	0.37825	.	.	ENSG00000221858	ENST00000408949	T	0.00169	8.63	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	L	0.49699	1.58	0.25415	N	0.988322	D	0.54964	0.969	P	0.51385	0.668	T	0.57051	-0.7877	9	0.66056	D	0.02	-14.278	8.0494	0.30568	0.1096:0.0:0.8903:0.0	.	254	Q8NGT7	O2A12_HUMAN	T	254	ENSP00000386174:A254T	ENSP00000386174:A254T	A	+	1	0	OR2A12	143423893	0.006000	0.16342	0.969000	0.41365	0.098000	0.18820	1.204000	0.32296	2.241000	0.73720	0.505000	0.49811	GCC	OR2A12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.562	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A12	HGNC	protein_coding	OTTHUMT00000349969.1	G			143792960	+1	no_errors	ENST00000408949	ensembl	human	known	70_37	missense	SNP	0.970	A
OR51I1	390063	genome.wustl.edu	37	11	5462187	5462187	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:5462187G>A	ENST00000380211.1	-	1	557	c.558C>T	c.(556-558)ctC>ctT	p.L186L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	186					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACTTTCATGAGATCTGGAT	0.433																																																	0													78.0	75.0	76.0					11																	5462187		2201	4297	6498	SO:0001819	synonymous_variant	390063			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.558C>T	11.37:g.5462187G>A			B9EKW2|Q6IF33	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L186	ENST00000380211.1	37	c.558	CCDS31382.1	11																																																																																			OR51I1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.433	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I1	HGNC	protein_coding	OTTHUMT00000143399.1	G	NM_001005288		5462187	-1	no_errors	ENST00000380211	ensembl	human	known	70_37	silent	SNP	0.974	A
OR4C5	79346	genome.wustl.edu	37	11	48387097	48387097	+	Silent	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:48387097C>A	ENST00000319813.3	-	1	920	c.921G>T	c.(919-921)gtG>gtT	p.V307V				Q8NGB2	OR4C5_HUMAN	olfactory receptor, family 4, subfamily C, member 5	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TGGCATTTTTCACCTCTGTGT	0.393																																																	0																																										SO:0001819	synonymous_variant	79346					11p11.2	2013-03-27	2004-03-04	2004-03-05	ENSG00000176540	ENSG00000176540		"""GPCR / Class A : Olfactory receptors"""	14702	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 5 pseudogene"""	OR4C5P			Standard	NG_002247		Approved	OR4C5Q		Q8NGB2	OTTHUMG00000169462	ENST00000319813.3:c.921G>T	11.37:g.48387097C>A			Q6IFB2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V307	ENST00000319813.3	37	c.921		11																																																																																			OR4C5	-	prints_GPCR_Rhodpsn		0.393	OR4C5-001	KNOWN	basic|appris_principal	protein_coding	OR4C5	HGNC	protein_coding	OTTHUMT00000404174.1	C	NG_002247		48387097	-1	no_errors	ENST00000319813	ensembl	human	known	70_37	silent	SNP	1.000	A
OSBP	5007	genome.wustl.edu	37	11	59361137	59361137	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:59361137G>A	ENST00000263847.1	-	9	2097	c.1618C>T	c.(1618-1620)Cgt>Tgt	p.R540C	MIR3162_ENST00000581818.1_RNA	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	540					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ATTTCCTGACGCAATGTCCAG	0.463																																																	0													139.0	121.0	127.0					11																	59361137		2201	4295	6496	SO:0001583	missense	5007			AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1618C>T	11.37:g.59361137G>A	ENSP00000263847:p.Arg540Cys		Q6P524	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R540C	ENST00000263847.1	37	c.1618	CCDS7974.1	11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284551	0.80803	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	T	0.30714	1.52	6.06	6.06	0.98353	.	0.045297	0.85682	D	0.000000	T	0.46073	0.1374	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.32587	-0.9901	10	0.87932	D	0	-9.3142	14.2555	0.66048	0.0:0.0:0.8509:0.1491	.	540	P22059	OSBP1_HUMAN	C	540;140	ENSP00000263847:R540C	ENSP00000263847:R540C	R	-	1	0	OSBP	59117713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.663000	0.37429	2.882000	0.98803	0.655000	0.94253	CGT	OSBP	-	pfam_Oxysterol-bd		0.463	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBP	HGNC	protein_coding	OTTHUMT00000394555.1	G			59361137	-1	no_errors	ENST00000263847	ensembl	human	known	70_37	missense	SNP	1.000	A
OR2AT4	341152	genome.wustl.edu	37	11	74800316	74800316	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:74800316G>A	ENST00000305159.3	-	1	483	c.443C>T	c.(442-444)aCc>aTc	p.T148I		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGCTGCCAAGGTAGCATTGGT	0.552																																																	0													100.0	95.0	97.0					11																	74800316		2200	4293	6493	SO:0001583	missense	341152			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.443C>T	11.37:g.74800316G>A	ENSP00000304846:p.Thr148Ile		B9EGZ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.T148I	ENST00000305159.3	37	c.443	CCDS31639.1	11	.	.	.	.	.	.	.	.	.	.	G	2.308	-0.358590	0.05138	.	.	ENSG00000171561	ENST00000305159	T	0.79352	-1.26	5.26	-0.837	0.10766	GPCR, rhodopsin-like superfamily (1);	1.369970	0.05642	U	0.583545	T	0.54615	0.1869	N	0.04043	-0.29	0.09310	N	1	B	0.15719	0.014	B	0.23716	0.048	T	0.46679	-0.9174	10	0.59425	D	0.04	.	1.9056	0.03276	0.371:0.1243:0.3784:0.1263	.	148	A6NND4	O2AT4_HUMAN	I	148	ENSP00000304846:T148I	ENSP00000304846:T148I	T	-	2	0	OR2AT4	74477964	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-1.292000	0.02772	-0.036000	0.13669	-0.355000	0.07637	ACC	OR2AT4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.552	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AT4	HGNC	protein_coding	OTTHUMT00000383734.1	G	NM_001005285		74800316	-1	no_errors	ENST00000305159	ensembl	human	known	70_37	missense	SNP	0.000	A
P2RY13	53829	genome.wustl.edu	37	3	151046611	151046611	+	Missense_Mutation	SNP	A	A	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:151046611A>C	ENST00000325602.5	-	2	252	c.233T>G	c.(232-234)tTc>tGc	p.F78C	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	78					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GTAGATGATGAAGGTGGAGGA	0.502																																																	0													107.0	104.0	105.0					3																	151046611		2203	4300	6503	SO:0001583	missense	53829			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.233T>G	3.37:g.151046611A>C	ENSP00000320376:p.Phe78Cys		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt	p.F78C	ENST00000325602.5	37	c.233	CCDS3158.2	3	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258754	0.80246	.	.	ENSG00000181631	ENST00000325602	T	0.29655	1.56	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57545	-0.7793	10	0.66056	D	0.02	-24.679	16.0985	0.81148	1.0:0.0:0.0:0.0	.	78	Q9BPV8	P2Y13_HUMAN	C	78	ENSP00000320376:F78C	ENSP00000320376:F78C	F	-	2	0	P2RY13	152529301	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.197000	0.70478	0.455000	0.32223	TTC	P2RY13	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_UDPG_rcpt		0.502	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1	A	NM_023914		151046611	-1	no_errors	ENST00000325602	ensembl	human	known	70_37	missense	SNP	1.000	C
PABPC3	5042	genome.wustl.edu	37	13	25671027	25671027	+	Missense_Mutation	SNP	A	A	G	rs78826513	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr13:25671027A>G	ENST00000281589.3	+	1	728	c.691A>G	c.(691-693)Aaa>Gaa	p.K231E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	231	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGAAAATCCAAAGGATTTGG	0.418																																																	0													81.0	76.0	78.0					13																	25671027		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.691A>G	13.37:g.25671027A>G	ENSP00000281589:p.Lys231Glu		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.K231E	ENST00000281589.3	37	c.691	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631048	0.46944	.	.	ENSG00000151846	ENST00000281589	T	0.08807	3.05	0.993	0.993	0.19825	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.49916	U	0.000136	T	0.27063	0.0663	M	0.90198	3.095	0.34162	D	0.668825	D	0.65815	0.995	D	0.67725	0.953	T	0.36553	-0.9743	10	0.87932	D	0	.	6.1165	0.20130	1.0:0.0:0.0:0.0	.	231	Q9H361	PABP3_HUMAN	E	231	ENSP00000281589:K231E	ENSP00000281589:K231E	K	+	1	0	PABPC3	24569027	0.998000	0.40836	0.994000	0.49952	0.967000	0.64934	2.374000	0.44274	0.692000	0.31613	0.374000	0.22700	AAA	PABPC3	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	A	NM_030979		25671027	+1	no_errors	ENST00000281589	ensembl	human	known	70_37	missense	SNP	0.999	G
PAK4	10298	genome.wustl.edu	37	19	39664313	39664313	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:39664313G>A	ENST00000593690.1	+	6	1188	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	PAK4_ENST00000360442.3_Missense_Mutation_p.R254Q|PAK4_ENST00000358301.3_Missense_Mutation_p.R254Q|PAK4_ENST00000435673.2_Missense_Mutation_p.R254Q|PAK4_ENST00000599470.1_Missense_Mutation_p.R101Q|PAK4_ENST00000321944.4_Missense_Mutation_p.R164Q|PAK4_ENST00000599386.1_Missense_Mutation_p.R101Q	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	254	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			ACCCGAGCCCGAGGTGCCCCC	0.751																																																	0													5.0	7.0	7.0					19																	39664313		2019	4026	6045	SO:0001583	missense	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.761G>A	19.37:g.39664313G>A	ENSP00000469413:p.Arg254Gln		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	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.R254Q	ENST00000593690.1	37	c.761	CCDS12528.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.198|0.198	-1.047571|-1.047571	0.01981|0.01981	.|.	.|.	ENSG00000130669|ENSG00000130669	ENST00000542377|ENST00000358301;ENST00000321944;ENST00000358801;ENST00000435673;ENST00000360442	.|T;T;T;T	.|0.70164	.|-0.46;0.75;-0.46;-0.46	3.28|3.28	-0.018|-0.018	0.13966|0.13966	.|.	.|1.269180	.|0.05204	.|N	.|0.505487	T|T	0.45577|0.45577	0.1349|0.1349	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|P;B;B	.|0.37663	.|0.604;0.006;0.01	.|B;B;B	.|0.34385	.|0.181;0.003;0.001	T|T	0.25950|0.25950	-1.0117|-1.0117	6|10	0.05959|0.13108	T|T	0.93|0.6	.|.	5.953|5.953	0.19257|0.19257	0.4898:0.0:0.5102:0.0|0.4898:0.0:0.5102:0.0	.|.	.|164;101;254	.|O96013-4;O96013-3;O96013	.|.;.;PAK4_HUMAN	K|Q	30|254;101;58;254;254	.|ENSP00000351049:R254Q;ENSP00000326864:R101Q;ENSP00000392753:R254Q;ENSP00000353625:R254Q	ENSP00000443258:E30K|ENSP00000326864:R101Q	E|R	+|+	1|2	0|0	PAK4|PAK4	44356153|44356153	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.029000|0.029000	0.11900|0.11900	0.025000|0.025000	0.13577|0.13577	0.084000|0.084000	0.17077|0.17077	0.555000|0.555000	0.69702|0.69702	GAG|CGA	PAK4	-	NULL		0.751	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	G			39664313	+1	no_errors	ENST00000358301	ensembl	human	known	70_37	missense	SNP	0.049	A
AKAP2	11217	genome.wustl.edu	37	9	112899896	112899896	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:112899896G>A	ENST00000259318.7	+	2	1586	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K	AKAP2_ENST00000510514.5_Missense_Mutation_p.R691K|AKAP2_ENST00000555236.1_Missense_Mutation_p.R691K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R691K|AKAP2_ENST00000374525.1_Missense_Mutation_p.R549K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R691K|AKAP2_ENST00000434623.2_Missense_Mutation_p.R549K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	460										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CAGTTCTCAAGATCTGTCAAT	0.502																																																	0													115.0	114.0	114.0					9																	112899896		2203	4300	6503	SO:0001583	missense	445815			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1379G>A	9.37:g.112899896G>A	ENSP00000259318:p.Arg460Lys		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.R691K	ENST00000259318.7	37	c.2072	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	4.786	0.146185	0.09134	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.45276	2.24;2.23;2.24;2.23;1.47;0.9;0.9;1.51	5.86	1.39	0.22231	.	0.432209	0.26514	N	0.023943	T	0.19005	0.0456	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.10296	0.0;0.001;0.0;0.003;0.002;0.001;0.001;0.0	B;B;B;B;B;B;B;B	0.16289	0.001;0.006;0.001;0.015;0.007;0.001;0.001;0.0	T	0.25882	-1.0119	10	0.12430	T	0.62	-2.2545	9.5318	0.39198	0.498:0.0:0.502:0.0	.	460;549;543;549;550;691;691;509	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	K	691;691;691;691;549;549;509;460	ENSP00000363654:R691K;ENSP00000305861:R691K;ENSP00000451476:R691K;ENSP00000421522:R691K;ENSP00000404782:R549K;ENSP00000363649:R549K;ENSP00000419268:R509K;ENSP00000259318:R460K	ENSP00000259318:R460K	R	+	2	0	PALM2-AKAP2;AKAP2	111939717	0.732000	0.28121	0.317000	0.25265	0.618000	0.37518	0.978000	0.29488	-0.035000	0.13691	-0.940000	0.02684	AGA	PALM2-AKAP2	-	NULL		0.502	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	G	NM_001004065		112899896	+1	no_errors	ENST00000374530	ensembl	human	known	70_37	missense	SNP	0.012	A
PCCB	5096	genome.wustl.edu	37	3	135979188	135979188	+	Intron	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:135979188G>A	ENST00000251654.4	+	4	442				PCCB_ENST00000466072.1_Intron|PCCB_ENST00000471595.1_Intron|PCCB_ENST00000469217.1_Intron|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000490504.1_Intron|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000468777.1_Silent_p.L152L|PCCB_ENST00000483687.1_Intron|PCCB_ENST00000462637.1_Intron	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide						biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	ccaaagtgttgggattacagg	0.488																																																	0																																										SO:0001627	intron_variant	5096				CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.373-133G>A	3.37:g.135979188G>A			B7Z2Z4|Q16813|Q96CX0	Silent	SNP	pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C	p.L152	ENST00000251654.4	37	c.456	CCDS3089.1	3																																																																																			PCCB	-	pfscan_COA_CT_N		0.488	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCCB	HGNC	protein_coding	OTTHUMT00000357335.1	G			135979188	+1	no_errors	ENST00000468777	ensembl	human	putative	70_37	silent	SNP	0.041	A
PCDHA10	56139	genome.wustl.edu	37	5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:140237074G>A	ENST00000307360.5	+	1	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A481S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662																																																	2	Substitution - Missense(2)	lung(2)											88.0	87.0	87.0					5																	140237074		2196	4273	6469	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1441G>A	5.37:g.140237074G>A	ENSP00000304234:p.Ala481Thr		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A481T	ENST00000307360.5	37	c.1441	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683650	0.47991	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.61859	4.64;0.07	3.74	2.77	0.32553	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.59335	0.2186	L	0.60957	1.885	0.28134	N	0.930071	P;B;D	0.56521	0.849;0.241;0.976	B;B;P	0.50049	0.414;0.135;0.629	T	0.54728	-0.8250	9	0.66056	D	0.02	.	8.7261	0.34469	0.0:0.241:0.6273:0.1317	.	481;481;481	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	T	481	ENSP00000421030:A481T;ENSP00000304234:A481T	ENSP00000304234:A481T	A	+	1	0	PCDHA10	140217258	0.000000	0.05858	1.000000	0.80357	0.634000	0.38068	-0.444000	0.06854	2.077000	0.62373	0.456000	0.33151	GCG	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	G	NM_018901		140237074	+1	no_errors	ENST00000307360	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDHA12	56137	genome.wustl.edu	37	5	140256419	140256419	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:140256419G>A	ENST00000398631.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652																																					Pancreas(113;759 1672 13322 24104 50104)												0													107.0	108.0	108.0					5																	140256419		2203	4300	6503	SO:0001819	synonymous_variant	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1362G>A	5.37:g.140256419G>A			O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A454	ENST00000398631.2	37	c.1362	CCDS47285.1	5																																																																																			PCDHA12	-	superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.652	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	G	NM_018903		140256419	+1	no_errors	ENST00000398631	ensembl	human	known	70_37	silent	SNP	0.000	A
PCDHB8	56128	genome.wustl.edu	37	5	140559613	140559613	+	Silent	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:140559613C>A	ENST00000239444.2	+	1	2243	c.1998C>A	c.(1996-1998)ggC>ggA	p.G666G	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	666	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGACGGCTTCTCCCAGC	0.687																																																	0													39.0	40.0	40.0					5																	140559613		2180	4255	6435	SO:0001819	synonymous_variant	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1998C>A	5.37:g.140559613C>A			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G666	ENST00000239444.2	37	c.1998	CCDS4250.1	5																																																																																			PCDHB8	-	smart_Cadherin,pfscan_Cadherin		0.687	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	C	NM_019120		140559613	+1	no_errors	ENST00000239444	ensembl	human	known	70_37	silent	SNP	0.998	A
PCDHGA3	56112	genome.wustl.edu	37	5	140725749	140725749	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:140725749C>T	ENST00000253812.6	+	1	2149	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	717					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGGCTGCGGCGCTGGCA	0.677																																																	0													67.0	74.0	72.0					5																	140725749		2203	4296	6499	SO:0001583	missense	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2149C>T	5.37:g.140725749C>T	ENSP00000253812:p.Arg717Trp		Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R717W	ENST00000253812.6	37	c.2149	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	10.86	1.470065	0.26423	.	.	ENSG00000254245	ENST00000253812	T	0.17054	2.3	5.16	-5.74	0.02391	.	0.000000	0.30201	U	0.010167	T	0.13543	0.0328	M	0.65320	2	0.09310	N	1	B;B	0.27192	0.171;0.023	B;B	0.26202	0.067;0.066	T	0.11227	-1.0596	10	0.51188	T	0.08	.	8.3148	0.32093	0.6089:0.2131:0.0:0.178	.	717;717	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	W	717	ENSP00000253812:R717W	ENSP00000253812:R717W	R	+	1	2	PCDHGA3	140705933	0.000000	0.05858	0.016000	0.15963	0.367000	0.29736	-0.022000	0.12480	-0.996000	0.03455	-0.244000	0.11960	CGG	PCDHGA3	-	NULL		0.677	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	C	NM_018916		140725749	+1	no_errors	ENST00000253812	ensembl	human	known	70_37	missense	SNP	0.000	T
PDK3	5165	genome.wustl.edu	37	X	24523381	24523381	+	Silent	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:24523381C>A	ENST00000379162.4	+	5	796	c.561C>A	c.(559-561)atC>atA	p.I187I	PDK3_ENST00000441463.2_Silent_p.I187I	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	187	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TAGGAAGTATCGATCCCACCT	0.458																																																	0													190.0	143.0	159.0					X																	24523381		2203	4300	6503	SO:0001819	synonymous_variant	5165			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.561C>A	X.37:g.24523381C>A			B4DXG6	Silent	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.I187	ENST00000379162.4	37	c.561	CCDS14212.1	X																																																																																			PDK3	-	pfam_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd		0.458	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK3	HGNC	protein_coding	OTTHUMT00000056097.1	C	NM_005391		24523381	+1	no_errors	ENST00000441463	ensembl	human	known	70_37	silent	SNP	1.000	A
PDZD2	23037	genome.wustl.edu	37	5	32091009	32091009	+	Silent	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:32091009G>C	ENST00000438447.1	+	20	7843	c.7455G>C	c.(7453-7455)ctG>ctC	p.L2485L	PDZD2_ENST00000282493.3_Silent_p.L2485L			O15018	PDZD2_HUMAN	PDZ domain containing 2	2485					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAGGAGCTGAGAGCCTTGA	0.607																																																	0													59.0	59.0	59.0					5																	32091009		2203	4300	6503	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7455G>C	5.37:g.32091009G>C			Q9BXD4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L2485	ENST00000438447.1	37	c.7455	CCDS34137.1	5																																																																																			PDZD2	-	NULL		0.607	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	G			32091009	+1	no_errors	ENST00000282493	ensembl	human	known	70_37	silent	SNP	0.980	C
PET117	100303755	genome.wustl.edu	37	20	18122908	18122908	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:18122908C>T	ENST00000432901.3	+	2	236	c.153C>T	c.(151-153)aaC>aaT	p.N51N	CSRP2BP_ENST00000489634.2_5'Flank|CSRP2BP_ENST00000435364.3_5'Flank|CSRP2BP_ENST00000377681.3_5'Flank|CSRP2BP_ENST00000484001.1_3'UTR	NM_001164811.1	NP_001158283.1	Q6UWS5	PT117_HUMAN	PET117 homolog (S. cerevisiae)	51						mitochondrion (GO:0005739)				endometrium(1)	1						AAAAAGAAAACATTCGTCTTT	0.378																																																	0													121.0	105.0	110.0					20																	18122908		692	1591	2283	SO:0001819	synonymous_variant	100303755				CCDS54450.1	20p11.23	2012-02-23			ENSG00000232838	ENSG00000232838			40045	protein-coding gene	gene with protein product		614771					Standard	NM_001164811		Approved		uc021wba.1	Q6UWS5		ENST00000432901.3:c.153C>T	20.37:g.18122908C>T				Silent	SNP	NULL	p.N51	ENST00000432901.3	37	c.153	CCDS54450.1	20																																																																																			PET117	-	NULL		0.378	PET117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PET117	HGNC	protein_coding	OTTHUMT00000472038.1	C			18122908	+1	no_errors	ENST00000432901	ensembl	human	known	70_37	silent	SNP	0.999	T
PGBD5	79605	genome.wustl.edu	37	1	230486791	230486791	+	Silent	SNP	C	C	T	rs76234678	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:230486791C>T	ENST00000525115.1	-	3	623	c.600G>A	c.(598-600)acG>acA	p.T200T	PGBD5_ENST00000391860.1_Silent_p.T154T|PGBD5_ENST00000321327.2_Silent_p.T299T			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	200						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)		GCTCTGTGCACGTGGCAATGA	0.547																																																	0													112.0	97.0	102.0					1																	230486791		2203	4300	6503	SO:0001819	synonymous_variant	79605			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.600G>A	1.37:g.230486791C>T			A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	NULL	p.T299	ENST00000525115.1	37	c.897		1																																																																																			PGBD5	-	NULL		0.547	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	C	NM_024554		230486791	-1	no_errors	ENST00000321327	ensembl	human	known	70_37	silent	SNP	0.644	T
PGM5	5239	genome.wustl.edu	37	9	71002420	71002420	+	Missense_Mutation	SNP	C	C	T	rs138311393		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:71002420C>T	ENST00000396396.1	+	4	842	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.R205W	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	205					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TAACCTCCTTCGGACCATCTT	0.428																																																	0								C	TRP/ARG	3,4403		0,3,2200	139.0	134.0	136.0		613	4.3	0.7	9	dbSNP_134	136	1,8597		0,1,4298	no	missense	PGM5	NM_021965.3	101	0,4,6498	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	205/568	71002420	4,13000	2203	4299	6502	SO:0001583	missense	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.613C>T	9.37:g.71002420C>T	ENSP00000379678:p.Arg205Trp		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.R205W	ENST00000396396.1	37	c.613	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	.	12.55	1.970371	0.34754	6.81E-4	1.16E-4	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.64260	-0.09;-0.09;-0.09	5.16	4.27	0.50696	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.000000	0.85682	U	0.000000	T	0.78130	0.4235	M	0.85462	2.755	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	T	0.79354	-0.1838	10	0.87932	D	0	.	7.8195	0.29280	0.1602:0.7562:0.0:0.0836	.	205	Q15124	PGM5_HUMAN	W	205;205;156;122	ENSP00000379678:R205W;ENSP00000379674:R205W;ENSP00000394864:R122W	ENSP00000366531:R156W	R	+	1	2	PGM5	70192240	0.922000	0.31269	0.715000	0.30552	0.088000	0.18126	1.216000	0.32443	1.176000	0.42840	-0.261000	0.10672	CGG	PGM5	-	pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.428	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	C	NM_021965		71002420	+1	no_errors	ENST00000396396	ensembl	human	known	70_37	missense	SNP	0.971	T
PHOSPHO1	162466	genome.wustl.edu	37	17	47301946	47301946	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:47301946C>T	ENST00000310544.4	-	3	593	c.466G>A	c.(466-468)Gga>Aga	p.G156R	PHOSPHO1_ENST00000413580.1_Missense_Mutation_p.G181R|PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.G181R			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	156					bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GCCAGCAGTCCCCGCGCATCC	0.701																																																	0													8.0	9.0	8.0					17																	47301946		2173	4242	6415	SO:0001583	missense	162466			AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.466G>A	17.37:g.47301946C>T	ENSP00000311925:p.Gly156Arg		E9PAM0|Q17RU6	Missense_Mutation	SNP	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	p.G181R	ENST00000310544.4	37	c.541	CCDS11547.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.286954	0.95517	.	.	ENSG00000173868	ENST00000310544;ENST00000413580;ENST00000514112;ENST00000511066	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.38	5.38	0.77491	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.87509	0.6195	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89504	0.3766	10	0.62326	D	0.03	.	18.7238	0.91705	0.0:1.0:0.0:0.0	.	156;181	Q8TCT1;E9PAM0	PHOP1_HUMAN;.	R	156;181;181;156	ENSP00000311925:G156R;ENSP00000406909:G181R;ENSP00000427694:G181R;ENSP00000426095:G156R	ENSP00000311925:G156R	G	-	1	0	PHOSPHO1	44656945	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.292000	0.78731	2.510000	0.84645	0.462000	0.41574	GGA	PHOSPHO1	-	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like		0.701	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOSPHO1	HGNC	protein_coding	OTTHUMT00000364467.2	C			47301946	-1	no_errors	ENST00000413580	ensembl	human	known	70_37	missense	SNP	0.999	T
PI4KA	5297	genome.wustl.edu	37	22	21174094	21174094	+	Silent	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:21174094G>C	ENST00000572273.1	-	6	680	c.450C>G	c.(448-450)ctC>ctG	p.L150L	PI4KA_ENST00000255882.6_Silent_p.L208L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	150					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)			TTTTGGGAAAGAGCTTTGAGA	0.493																																					GBM(136;1332 1831 3115 23601 50806)												0													186.0	163.0	171.0					22																	21174094		2203	4300	6503	SO:0001819	synonymous_variant	5297			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.450C>G	22.37:g.21174094G>C			Q7Z625|Q9UPG2	Silent	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.L208	ENST00000572273.1	37	c.624		22																																																																																			PI4KA	-	superfamily_ARM-type_fold		0.493	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		G	NM_058004		21174094	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	silent	SNP	0.997	C
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIN4	5303	genome.wustl.edu	37	X	71406221	71406221	+	Intron	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:71406221G>A	ENST00000373669.2	+	2	150				PIN4_ENST00000218432.5_Intron|PIN4_ENST00000423432.2_Intron	NM_006223.3	NP_006214.2	Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)						protein folding (GO:0006457)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome (GO:0030684)|spindle (GO:0005819)	bent DNA binding (GO:0003681)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(2)	3	Renal(35;0.156)					GTGGCGTTATGATGGAAATAT	0.473																																																	0																																										SO:0001627	intron_variant	5303			AB009690	CCDS14417.1, CCDS55447.1	Xq13.1	2008-02-05	2006-01-12		ENSG00000102309	ENSG00000102309			8992	protein-coding gene	gene with protein product		300252	"""protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)"""			16522211, 17875217	Standard	NM_006223		Approved	PAR14, PAR17, EPVH	uc004eam.3	Q9Y237	OTTHUMG00000021811	ENST00000373669.2:c.119-90G>A	X.37:g.71406221G>A			A8E0G6|B3KXM0|F5H1P5|Q0D2H3|Q3MHV0|Q52M21|Q5HYW6|Q6IRW4	Missense_Mutation	SNP	NULL	p.D86N	ENST00000373669.2	37	c.256	CCDS14417.1	X																																																																																			PIN4	-	NULL		0.473	PIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN4	HGNC	protein_coding	OTTHUMT00000057175.2	G	NM_006223		71406221	+1	no_errors	ENST00000373662	ensembl	human	known	70_37	missense	SNP	0.000	A
PKD1L1	168507	genome.wustl.edu	37	7	47869022	47869022	+	Splice_Site	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:47869022C>A	ENST00000289672.2	-	44	6786		c.e44+1			NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1						detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATTTTTTTTACTTTTTCAACC	0.408																																																	0													61.0	67.0	65.0					7																	47869022		2203	4300	6503	SO:0001630	splice_region_variant	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6735+1G>T	7.37:g.47869022C>A			Q6UWK1	Splice_Site	SNP	-	e44+1	ENST00000289672.2	37	c.6735+1	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588910	0.28357	.	.	ENSG00000158683	ENST00000289672	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3343	0.49494	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKD1L1	47835547	0.408000	0.25360	0.027000	0.17364	0.103000	0.19146	2.942000	0.49018	2.034000	0.60081	0.558000	0.71614	.	PKD1L1	-	-		0.408	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	C	NM_138295	Intron	47869022	-1	no_errors	ENST00000289672	ensembl	human	known	70_37	splice_site	SNP	0.093	A
PKN2	5586	genome.wustl.edu	37	1	89273084	89273084	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:89273084C>T	ENST00000370521.3	+	13	2251	c.1892C>T	c.(1891-1893)tCa>tTa	p.S631L	PKN2_ENST00000370513.5_Missense_Mutation_p.S583L|PKN2_ENST00000370505.3_Missense_Mutation_p.S474L|PKN2_ENST00000544045.1_Missense_Mutation_p.S305L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	631					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ACTCCTCAGTCAGGCCTAGAA	0.333																																																	0													87.0	83.0	85.0					1																	89273084		1827	4083	5910	SO:0001583	missense	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1892C>T	1.37:g.89273084C>T	ENSP00000359552:p.Ser631Leu		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	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_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.S631L	ENST00000370521.3	37	c.1892	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290821	0.23564	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.69685	-0.42;-0.41;-0.4;-0.41	5.97	5.97	0.96955	.	0.423027	0.17300	U	0.179319	T	0.55433	0.1920	L	0.54323	1.7	0.20703	N	0.999866	B;B;B	0.31383	0.014;0.121;0.321	B;B;B	0.34180	0.011;0.03;0.177	T	0.54675	-0.8258	10	0.41790	T	0.15	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	615;583;631	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	L	631;474;583;305	ENSP00000359552:S631L;ENSP00000359536:S474L;ENSP00000359544:S583L;ENSP00000439643:S305L	ENSP00000359536:S474L	S	+	2	0	PKN2	89045672	0.958000	0.32768	0.015000	0.15790	0.090000	0.18270	1.243000	0.32767	2.833000	0.97629	0.585000	0.79938	TCA	PKN2	-	NULL		0.333	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	C	NM_006256		89273084	+1	no_errors	ENST00000370521	ensembl	human	known	70_37	missense	SNP	0.235	T
PKN2	5586	genome.wustl.edu	37	1	89273099	89273099	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:89273099G>T	ENST00000370521.3	+	13	2266	c.1907G>T	c.(1906-1908)aGt>aTt	p.S636I	PKN2_ENST00000370513.5_Missense_Mutation_p.S588I|PKN2_ENST00000370505.3_Missense_Mutation_p.S479I|PKN2_ENST00000544045.1_Missense_Mutation_p.S310I	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	636					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CTAGAATATAGTGGTATTCAA	0.323																																																	0													90.0	86.0	87.0					1																	89273099		1825	4081	5906	SO:0001583	missense	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1907G>T	1.37:g.89273099G>T	ENSP00000359552:p.Ser636Ile		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	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_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.S636I	ENST00000370521.3	37	c.1907	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	G	9.559	1.117879	0.20877	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.69435	-0.38;-0.39;-0.39;-0.4	5.97	5.04	0.67666	.	0.605248	0.14269	U	0.330306	T	0.40791	0.1131	L	0.41236	1.265	0.20873	N	0.999838	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.28299	-1.0048	10	0.24483	T	0.36	.	16.0411	0.80683	0.0:0.3137:0.6863:0.0	.	620;588;636	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	I	636;479;588;310	ENSP00000359552:S636I;ENSP00000359536:S479I;ENSP00000359544:S588I;ENSP00000439643:S310I	ENSP00000359536:S479I	S	+	2	0	PKN2	89045687	0.487000	0.25988	0.049000	0.19019	0.677000	0.39632	1.262000	0.32992	1.472000	0.48140	0.585000	0.79938	AGT	PKN2	-	NULL		0.323	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	G	NM_006256		89273099	+1	no_errors	ENST00000370521	ensembl	human	known	70_37	missense	SNP	0.512	T
PLAT	5327	genome.wustl.edu	37	8	42038032	42038032	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:42038032G>C	ENST00000220809.4	-	10	1317	c.1061C>G	c.(1060-1062)tCt>tGt	p.S354C	PLAT_ENST00000519510.1_Missense_Mutation_p.S291C|PLAT_ENST00000524009.1_Missense_Mutation_p.S265C|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.S228C|PLAT_ENST00000429089.2_Missense_Mutation_p.S354C|PLAT_ENST00000352041.3_Missense_Mutation_p.S308C	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	354	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GTGGGCGGCAGAGAGAATCCA	0.597																																																	0													70.0	78.0	76.0					8																	42038032		2203	4300	6503	SO:0001583	missense	5327				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1061C>G	8.37:g.42038032G>C	ENSP00000220809:p.Ser354Cys		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S354C	ENST00000220809.4	37	c.1061	CCDS6126.1	8	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399198	0.62177	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.417330	0.28977	N	0.013527	D	0.92971	0.7763	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.996;1.0	D;D;D;D;D;D	0.79108	0.992;0.992;0.992;0.991;0.909;0.989	D	0.93367	0.6732	10	0.87932	D	0	.	14.9871	0.71356	0.0:0.1421:0.8578:0.0	.	228;265;291;354;308;354	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	C	354;354;308;291;228;265	ENSP00000392045:S354C;ENSP00000220809:S354C;ENSP00000270188:S308C;ENSP00000428886:S291C;ENSP00000407861:S228C;ENSP00000429401:S265C	ENSP00000220809:S354C	S	-	2	0	PLAT	42157189	1.000000	0.71417	0.689000	0.30133	0.433000	0.31745	6.477000	0.73591	2.595000	0.87683	0.650000	0.86243	TCT	PLAT	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.597	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1	G	NM_000930		42038032	-1	no_errors	ENST00000220809	ensembl	human	known	70_37	missense	SNP	0.968	C
PLB1	151056	genome.wustl.edu	37	2	28863863	28863863	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:28863863C>G	ENST00000327757.5	+	57	4213	c.4169C>G	c.(4168-4170)tCt>tGt	p.S1390C	PLB1_ENST00000422425.2_Missense_Mutation_p.S1379C|AC074011.2_ENST00000431376.1_RNA|PLB1_ENST00000541605.1_Missense_Mutation_p.S355C	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1390	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AAGTGCCCCTCTCCTGTGAGT	0.602																																																	0													132.0	101.0	112.0					2																	28863863		2203	4300	6503	SO:0001583	missense	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.4169C>G	2.37:g.28863863C>G	ENSP00000330442:p.Ser1390Cys		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.S1379C	ENST00000327757.5	37	c.4136	CCDS33168.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.70|19.70	3.876389|3.876389	0.72180|0.72180	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425;ENST00000541605	.|T;T;T	.|0.48836	.|0.8;0.8;0.8	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.527164	.|0.17713	.|N	.|0.164530	T|T	0.71384|0.71384	0.3333|0.3333	M|M	0.84511|0.84511	2.7|2.7	0.31624|0.31624	N|N	0.649907|0.649907	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.72075	.|0.976;0.959	T|T	0.77130|0.77130	-0.2701|-0.2701	5|10	.|0.72032	.|D	.|0.01	-12.9217|-12.9217	14.4125|14.4125	0.67124|0.67124	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1379;1390	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	V|C	1378|1390;1379;355	.|ENSP00000330442:S1390C;ENSP00000416440:S1379C;ENSP00000437426:S355C	.|ENSP00000330442:S1390C	L|S	+|+	1|2	0|0	PLB1|PLB1	28717367|28717367	0.161000|0.161000	0.22892|0.22892	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	2.481000|2.481000	0.45215|0.45215	2.490000|2.490000	0.84030|0.84030	0.561000|0.561000	0.74099|0.74099	CTC|TCT	PLB1	-	NULL		0.602	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	C			28863863	+1	no_errors	ENST00000422425	ensembl	human	known	70_37	missense	SNP	0.712	G
PLCD3	113026	genome.wustl.edu	37	17	43197701	43197701	+	Silent	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:43197701G>T	ENST00000322765.5	-	4	788	c.675C>A	c.(673-675)ctC>ctA	p.L225L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	225	EF-hand 2.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CCTTGAAGAGGAGGTAGGCGT	0.587																																																	0													112.0	123.0	119.0					17																	43197701		2180	4277	6457	SO:0001819	synonymous_variant	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.675C>A	17.37:g.43197701G>T			Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L225	ENST00000322765.5	37	c.675		17																																																																																			PLCD3	-	NULL		0.587	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		G	NM_133373		43197701	-1	no_errors	ENST00000322765	ensembl	human	known	70_37	silent	SNP	0.524	T
PLEKHG4	25894	genome.wustl.edu	37	16	67315956	67315956	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:67315956G>A	ENST00000360461.5	+	7	3585	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	PLEKHG4_ENST00000379344.3_Silent_p.L350L|PLEKHG4_ENST00000450733.1_Silent_p.L269L|PLEKHG4_ENST00000427155.2_Silent_p.L350L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	350							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CTTGTGCCCTGCTCCAGGGGG	0.627																																																	0													56.0	56.0	56.0					16																	67315956		2198	4300	6498	SO:0001819	synonymous_variant	25894			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1050G>A	16.37:g.67315956G>A			Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L350	ENST00000360461.5	37	c.1050	CCDS32466.1	16																																																																																			PLEKHG4	-	NULL		0.627	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	G	NM_015432		67315956	+1	no_errors	ENST00000360461	ensembl	human	known	70_37	silent	SNP	1.000	A
PLCG2	5336	genome.wustl.edu	37	16	81990342	81990342	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:81990342A>G	ENST00000359376.3	+	32	3827	c.3613A>G	c.(3613-3615)Agg>Ggg	p.R1205G		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1205					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						CCAGCTGAGGAGGCGGCAAGA	0.507																																																	0													75.0	78.0	77.0					16																	81990342		1999	4160	6159	SO:0001583	missense	5336				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.3613A>G	16.37:g.81990342A>G	ENSP00000352336:p.Arg1205Gly		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,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,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.R1205G	ENST00000359376.3	37	c.3613	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276086	0.40294	.	.	ENSG00000197943	ENST00000359376	T	0.67171	-0.25	5.56	4.46	0.54185	.	0.090906	0.85682	D	0.000000	T	0.45337	0.1337	N	0.08118	0	0.29368	N	0.864186	B	0.26672	0.156	B	0.24541	0.054	T	0.45702	-0.9243	10	0.52906	T	0.07	.	10.8879	0.46978	0.6996:0.3004:0.0:0.0	.	1205	P16885	PLCG2_HUMAN	G	1205	ENSP00000352336:R1205G	ENSP00000352336:R1205G	R	+	1	2	PLCG2	80547843	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	1.288000	0.33296	0.924000	0.37069	-0.440000	0.05779	AGG	PLCG2	-	pirsf_PLC-gamma		0.507	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	A			81990342	+1	no_errors	ENST00000359376	ensembl	human	known	70_37	missense	SNP	1.000	G
PLP1	5354	genome.wustl.edu	37	X	103031869	103031869	+	5'UTR	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:103031869C>T	ENST00000303958.2	+	0	92				PLP1_ENST00000418604.1_5'UTR|PLP1_ENST00000361621.2_5'UTR	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1						astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TGAACAAAGTCAGCCACAAAG	0.448																																																	0													55.0	51.0	53.0					X																	103031869		692	1591	2283	SO:0001623	5_prime_UTR_variant	5354			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.-55C>T	X.37:g.103031869C>T			P04400|P06905|Q502Y1|Q6FHZ6	RNA	SNP	-	NULL	ENST00000303958.2	37	NULL	CCDS14513.1	X																																																																																			PLP1	-	-		0.448	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP1	HGNC	protein_coding	OTTHUMT00000057743.2	C			103031869	+1	no_errors	ENST00000464776	ensembl	human	known	70_37	rna	SNP	1.000	T
PLXNB2	23654	genome.wustl.edu	37	22	50719806	50719806	+	Silent	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:50719806C>A	ENST00000449103.1	-	22	3785	c.3645G>T	c.(3643-3645)gtG>gtT	p.V1215V	PLXNB2_ENST00000359337.4_Silent_p.V1215V|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1215					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTAGACAGACACCGCGATGA	0.701																																																	0													27.0	39.0	35.0					22																	50719806		2187	4278	6465	SO:0001819	synonymous_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3645G>T	22.37:g.50719806C>A			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,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.V1215	ENST00000449103.1	37	c.3645	CCDS43035.1	22																																																																																			PLXNB2	-	NULL		0.701	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	C	NM_012401		50719806	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	silent	SNP	0.557	A
PLXNB2	23654	genome.wustl.edu	37	22	50719808	50719808	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr22:50719808C>A	ENST00000449103.1	-	22	3783	c.3643G>T	c.(3643-3645)Gtg>Ttg	p.V1215L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.V1215L|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1215					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TAGACAGACACCGCGATGACG	0.697																																																	0													27.0	39.0	35.0					22																	50719808		2188	4278	6466	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3643G>T	22.37:g.50719808C>A	ENSP00000409171:p.Val1215Leu		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,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.V1215L	ENST00000449103.1	37	c.3643	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	C	8.008	0.756962	0.15846	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.03441	3.93;3.93	4.71	3.59	0.41128	.	0.283355	0.25169	N	0.032602	T	0.01765	0.0056	N	0.10809	0.05	0.34570	D	0.713281	B	0.28378	0.209	B	0.25759	0.063	T	0.45056	-0.9287	10	0.17832	T	0.49	.	4.0381	0.09738	0.2241:0.5584:0.0:0.2175	.	1215	O15031	PLXB2_HUMAN	L	1215	ENSP00000409171:V1215L;ENSP00000352288:V1215L	ENSP00000352288:V1215L	V	-	1	0	PLXNB2	49061935	0.219000	0.23619	0.879000	0.34478	0.167000	0.22549	0.712000	0.25779	2.163000	0.67991	0.561000	0.74099	GTG	PLXNB2	-	NULL		0.697	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	C	NM_012401		50719808	-1	no_errors	ENST00000359337	ensembl	human	known	70_37	missense	SNP	0.497	A
PLXNC1	10154	genome.wustl.edu	37	12	94653479	94653479	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:94653479G>A	ENST00000258526.4	+	19	3469	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K	PLXNC1_ENST00000545312.1_5'Flank|PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.E121K	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1074					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCACACCCTTGAAAAGCAGAA	0.408																																																	0													95.0	97.0	97.0					12																	94653479		2203	4300	6503	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3220G>A	12.37:g.94653479G>A	ENSP00000258526:p.Glu1074Lys		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1074K	ENST00000258526.4	37	c.3220	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.645748	0.96704	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.23950	1.88;1.88	6.03	6.03	0.97812	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.994;0.998	T	0.66160	-0.5993	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	121;1074	B4DHQ7;O60486	.;PLXC1_HUMAN	K	1074;121	ENSP00000258526:E1074K;ENSP00000446720:E121K	ENSP00000258526:E1074K	E	+	1	0	PLXNC1	93177610	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.373000	0.97168	2.861000	0.98227	0.655000	0.94253	GAA	PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.408	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	G			94653479	+1	no_errors	ENST00000258526	ensembl	human	known	70_37	missense	SNP	1.000	A
PNMA5	114824	genome.wustl.edu	37	X	152158873	152158873	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:152158873G>T	ENST00000439251.1	-	2	1708	c.1270C>A	c.(1270-1272)Cca>Aca	p.P424T	PNMA5_ENST00000361887.5_Missense_Mutation_p.P424T|PNMA5_ENST00000535214.1_Missense_Mutation_p.P424T|PNMA5_ENST00000452693.1_Missense_Mutation_p.P424T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	424					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCCTGTGGCCCCTCCCTG	0.607																																																	0													108.0	87.0	94.0					X																	152158873		2203	4300	6503	SO:0001583	missense	114824			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1270C>A	X.37:g.152158873G>T	ENSP00000388850:p.Pro424Thr		B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	NULL	p.P424T	ENST00000439251.1	37	c.1270	CCDS14718.1	X	.	.	.	.	.	.	.	.	.	.	g	10.26	1.301497	0.23736	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	2.74	-1.36	0.09085	.	.	.	.	.	T	0.04634	0.0126	L	0.27053	0.805	0.09310	N	1	B	0.27351	0.176	B	0.15052	0.012	T	0.38436	-0.9661	9	0.39692	T	0.17	-2.4078	3.3276	0.07072	0.4371:0.2125:0.3504:0.0	.	424	Q96PV4	PNMA5_HUMAN	T	424	ENSP00000354834:P424T;ENSP00000445775:P424T;ENSP00000388850:P424T;ENSP00000392342:P424T	ENSP00000354834:P424T	P	-	1	0	PNMA5	151909529	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.443000	0.06862	-0.492000	0.06687	0.287000	0.19450	CCA	PNMA5	-	NULL		0.607	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA5	HGNC	protein_coding	OTTHUMT00000060925.1	G	NM_052926		152158873	-1	no_errors	ENST00000361887	ensembl	human	known	70_37	missense	SNP	0.000	T
PNCK	139728	genome.wustl.edu	37	X	152935959	152935959	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:152935959G>T	ENST00000370150.1	-	11	1163	c.985C>A	c.(985-987)Cgc>Agc	p.R329S	PNCK_ENST00000447676.2_Missense_Mutation_p.R412S|PNCK_ENST00000370142.1_Missense_Mutation_p.R352S|PNCK_ENST00000393831.2_Missense_Mutation_p.R352S|PNCK_ENST00000340888.3_Missense_Mutation_p.R329S|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000370145.4_Missense_Mutation_p.R346S			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	329						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCTGTGGCGGGCCATGCCC	0.677																																																	0													15.0	17.0	16.0					X																	152935959		2180	4265	6445	SO:0001583	missense	139728			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.985C>A	X.37:g.152935959G>T	ENSP00000359169:p.Arg329Ser		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	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.R412S	ENST00000370150.1	37	c.1234		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.131|3.131	-0.178377|-0.178377	0.06380|0.06380	.|.	.|.	ENSG00000130822|ENSG00000130822	ENST00000438984|ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676	.|T;T;T;T;T;T	.|0.66995	.|-0.24;-0.24;0.14;0.14;-0.24;-0.22	3.73|3.73	-2.15|-2.15	0.07102|0.07102	.|Protein kinase-like domain (1);	.|1.175720	.|0.06446	.|N	.|0.726799	T|T	0.40067|0.40067	0.1102|0.1102	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.11235	.|0.004;0.0;0.0	.|B;B;B	.|0.08055	.|0.003;0.001;0.001	T|T	0.27123|0.27123	-1.0083|-1.0083	5|10	.|0.02654	.|T	.|1	-3.0727|-3.0727	0.7874|0.7874	0.01051|0.01051	0.2131:0.1428:0.2079:0.4361|0.2131:0.1428:0.2079:0.4361	.|.	.|412;346;329	.|Q6P2M8-5;B4E1A6;Q6P2M8	.|.;.;KCC1B_HUMAN	Q|S	60|329;329;352;352;346;412	.|ENSP00000340586:R329S;ENSP00000359169:R329S;ENSP00000377417:R352S;ENSP00000359161:R352S;ENSP00000359164:R346S;ENSP00000405950:R412S	.|ENSP00000340586:R329S	P|R	-|-	2|1	0|0	PNCK|PNCK	152589153|152589153	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	-1.025000|-1.025000	0.03600|0.03600	-0.392000|-0.392000	0.07751|0.07751	-0.353000|-0.353000	0.07706|0.07706	CCG|CGC	PNCK	-	superfamily_Kinase-like_dom		0.677	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	PNCK	HGNC	protein_coding	OTTHUMT00000061044.2	G	NM_198452		152935959	-1	no_errors	ENST00000447676	ensembl	human	known	70_37	missense	SNP	0.005	T
POLR3D	661	genome.wustl.edu	37	8	22105764	22105764	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:22105764G>C	ENST00000397802.4	+	4	674	c.459G>C	c.(457-459)caG>caC	p.Q153H	POLR3D_ENST00000306433.4_Missense_Mutation_p.Q153H			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	153					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AAACTAAACAGATCTTGCGTA	0.507																																																	0													105.0	109.0	108.0					8																	22105764		2203	4300	6503	SO:0001583	missense	661			M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.459G>C	8.37:g.22105764G>C	ENSP00000380904:p.Gln153His		Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc4	p.Q153H	ENST00000397802.4	37	c.459	CCDS34858.1	8	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520185	0.27211	.	.	ENSG00000168495	ENST00000306433;ENST00000519237;ENST00000397802	.	.	.	5.74	3.6	0.41247	.	0.052099	0.85682	D	0.000000	T	0.43255	0.1239	L	0.36672	1.1	0.38952	D	0.958373	B	0.06786	0.001	B	0.01281	0.0	T	0.43015	-0.9417	9	0.51188	T	0.08	-19.7222	6.6525	0.22969	0.0811:0.1319:0.6517:0.1353	.	153	P05423	RPC4_HUMAN	H	153	.	ENSP00000303088:Q153H	Q	+	3	2	POLR3D	22161709	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	1.979000	0.40608	1.385000	0.46445	0.655000	0.94253	CAG	POLR3D	-	NULL		0.507	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3D	HGNC	protein_coding	OTTHUMT00000375434.2	G	NM_001722		22105764	+1	no_errors	ENST00000397802	ensembl	human	known	70_37	missense	SNP	0.998	C
POU2AF1	5450	genome.wustl.edu	37	11	111249962	111249962	+	5'UTR	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:111249962G>A	ENST00000393067.3	-	0	455					NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1						humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TCTTTAATGTGAGACCGGGGT	0.542			T	BCL6	NHL																																			Dom	yes		11	11q23.1	5450	"""POU domain, class 2, associating factor 1 (OBF1)"""		L	0													241.0	203.0	215.0					11																	111249962		692	1591	2283	SO:0001623	5_prime_UTR_variant	5450				CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.-60C>T	11.37:g.111249962G>A			B2R8Z9|Q14983	RNA	SNP	-	NULL	ENST00000393067.3	37	NULL	CCDS31675.1	11																																																																																			POU2AF1	-	-		0.542	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2AF1	HGNC	protein_coding	OTTHUMT00000391002.1	G	NM_006235		111249962	-1	no_errors	ENST00000526535	ensembl	human	putative	70_37	rna	SNP	0.864	A
PPP2R2D	55844	genome.wustl.edu	37	10	133757483	133757483	+	5'UTR	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:133757483G>C	ENST00000422256.2	+	0	293				PPP2R2D_ENST00000470416.1_Intron			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		TCCCAATATTGAAGCCCATGG	0.353																																																	0													116.0	97.0	103.0					10																	133757483		1862	4090	5952	SO:0001623	5_prime_UTR_variant	55844			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.-193G>C	10.37:g.133757483G>C			A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.L132F	ENST00000422256.2	37	c.396		10	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781276	0.31502	.	.	ENSG00000175470	ENST00000455566	T	0.34859	1.34	3.89	3.89	0.44902	WD40 repeat-like-containing domain (1);	0.072326	0.56097	D	0.000024	T	0.28764	0.0713	.	.	.	0.80722	D	1	B	0.14805	0.011	B	0.15052	0.012	T	0.09618	-1.0666	9	0.44086	T	0.13	-14.3444	12.3837	0.55322	0.0:0.1696:0.8304:0.0	.	163	Q66LE6	2ABD_HUMAN	F	132	ENSP00000399970:L132F	ENSP00000399970:L132F	L	+	3	2	PPP2R2D	133607473	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.542000	0.45744	2.198000	0.70561	0.655000	0.94253	TTG	PPP2R2D	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.353	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	PPP2R2D	HGNC	protein_coding		G	NM_018461		133757483	+1	no_errors	ENST00000455566	ensembl	human	known	70_37	missense	SNP	1.000	C
PRR12	57479	genome.wustl.edu	37	19	50105124	50105124	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:50105124C>T	ENST00000418929.2	+	6	4734	c.4722C>T	c.(4720-4722)ttC>ttT	p.F1574F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	753							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGGGCATCTTCCGGGAACGGG	0.637																																																	0													24.0	33.0	30.0					19																	50105124		2057	4176	6233	SO:0001819	synonymous_variant	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4722C>T	19.37:g.50105124C>T			E9PB06|Q8N4J6	Silent	SNP	NULL	p.F1574	ENST00000418929.2	37	c.4722	CCDS46143.1	19																																																																																			PRR12	-	NULL		0.637	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	C	NM_020719		50105124	+1	no_errors	ENST00000418929	ensembl	human	novel	70_37	silent	SNP	1.000	T
PRSS50	29122	genome.wustl.edu	37	3	46759249	46759249	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:46759249G>A	ENST00000460241.1	-	6	1736	c.66C>T	c.(64-66)gcC>gcT	p.A22A	PRSS50_ENST00000315170.7_Silent_p.A22A			Q9UI38	TSP50_HUMAN	protease, serine, 50	22					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GCAGGGCACCGGCGCGGGAGG	0.721																																					Pancreas(41;915 1239 11561 17469)												0													15.0	16.0	16.0					3																	46759249		2153	4218	6371	SO:0001819	synonymous_variant	29122			AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.66C>T	3.37:g.46759249G>A				Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A22	ENST00000460241.1	37	c.66	CCDS2745.1	3																																																																																			PRSS50	-	NULL		0.721	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS50	HGNC	protein_coding	OTTHUMT00000354544.1	G			46759249	-1	no_errors	ENST00000315170	ensembl	human	known	70_37	silent	SNP	0.000	A
PSD	5662	genome.wustl.edu	37	10	104170686	104170686	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:104170686T>A	ENST00000020673.5	-	10	2546	c.2020A>T	c.(2020-2022)Acc>Tcc	p.T674S	PSD_ENST00000406432.1_Missense_Mutation_p.T674S	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	674	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCCCGCAGGTCATGCGCTTC	0.622																																																	0													69.0	71.0	70.0					10																	104170686		2203	4300	6503	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2020A>T	10.37:g.104170686T>A	ENSP00000020673:p.Thr674Ser		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.T674S	ENST00000020673.5	37	c.2020	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247227	0.22796	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.50001	0.76;0.76	4.7	4.7	0.59300	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.197872	0.44097	D	0.000490	T	0.21227	0.0511	N	0.04787	-0.16	0.40834	D	0.98361	B	0.06786	0.001	B	0.14578	0.011	T	0.15150	-1.0447	10	0.02654	T	1	.	9.2772	0.37707	0.2024:0.0:0.0:0.7976	.	674	A5PKW4	PSD1_HUMAN	S	674;577;674	ENSP00000020673:T674S;ENSP00000384830:T674S	ENSP00000020673:T674S	T	-	1	0	PSD	104160676	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.514000	0.53422	1.977000	0.57605	0.443000	0.29094	ACC	PSD	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.622	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	T			104170686	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	1.000	A
PSMG1	8624	genome.wustl.edu	37	21	40551889	40551889	+	Nonsense_Mutation	SNP	G	G	T	rs201716985		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr21:40551889G>T	ENST00000331573.3	-	4	882	c.417C>A	c.(415-417)tgC>tgA	p.C139*	PSMG1_ENST00000380900.2_Intron	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	139					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				CTGCAACATAGCAACTGCACT	0.368																																																	0													108.0	97.0	101.0					21																	40551889		2203	4300	6503	SO:0001587	stop_gained	8624			AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"""Down syndrome critical region gene 2"""	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.417C>A	21.37:g.40551889G>T	ENSP00000329915:p.Cys139*		B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Nonsense_Mutation	SNP	pirsf_Proteasome_assmbl_chp_1	p.C139*	ENST00000331573.3	37	c.417	CCDS13660.1	21	.	.	.	.	.	.	.	.	.	.	G	41	8.773320	0.98948	.	.	ENSG00000183527	ENST00000331573	.	.	.	6.04	6.04	0.98038	.	0.085942	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.79	12.4702	0.55783	0.0763:0.0:0.9237:0.0	.	.	.	.	X	139	.	ENSP00000329915:C139X	C	-	3	2	PSMG1	39473759	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.183000	0.32041	2.873000	0.98535	0.563000	0.77884	TGC	PSMG1	-	pirsf_Proteasome_assmbl_chp_1		0.368	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMG1	HGNC	protein_coding	OTTHUMT00000141404.2	G	NM_003720		40551889	-1	no_errors	ENST00000331573	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PTEN	5728	genome.wustl.edu	37	10	89725043	89725043	+	Splice_Site	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:89725043G>T	ENST00000371953.3	+	9	2383		c.e9-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(7)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTTCTCTAGGTGAAGCTGT	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	54	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(7)|Deletion - In frame(1)	prostate(16)|central_nervous_system(12)|skin(5)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|kidney(1)											42.0	39.0	40.0					10																	89725043		2203	4300	6503	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1027-1G>T	10.37:g.89725043G>T			B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	-	e9-1	ENST00000371953.3	37	c.1027-1	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972931	0.53614	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4116	0.94675	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89715023	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.426000	0.97469	2.652000	0.90054	0.586000	0.80456	.	PTEN	-	-		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314	Intron	89725043	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	splice_site	SNP	1.000	T
PTGDS	5730	genome.wustl.edu	37	9	139875331	139875331	+	Intron	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:139875331C>A	ENST00000371625.3	+	6	647				PTGDS_ENST00000224167.2_Intron|LCNL1_ENST00000408973.2_5'Flank	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ttcattcattcattcattcat	0.507																																																	0													85.0	69.0	75.0					9																	139875331		2203	4298	6501	SO:0001627	intron_variant	5730			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.570+24C>A	9.37:g.139875331C>A			B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	RNA	SNP	-	NULL	ENST00000371625.3	37	NULL	CCDS7019.1	9																																																																																			PTGDS	-	-		0.507	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDS	HGNC	protein_coding	OTTHUMT00000055188.1	C	NM_000954		139875331	+1	no_errors	ENST00000462514	ensembl	human	known	70_37	rna	SNP	0.000	A
PTGFRN	5738	genome.wustl.edu	37	1	117509918	117509918	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:117509918C>T	ENST00000393203.2	+	6	2172	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	675					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAACCAGTCTCTCCAATCCTA	0.537																																																	0													52.0	53.0	52.0					1																	117509918		2203	4300	6503	SO:0001819	synonymous_variant	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2025C>T	1.37:g.117509918C>T			Q5VVU9|Q8N2K6	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L675	ENST00000393203.2	37	c.2025	CCDS890.1	1																																																																																			PTGFRN	-	smart_Ig_sub		0.537	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	C	NM_020440		117509918	+1	no_errors	ENST00000393203	ensembl	human	known	70_37	silent	SNP	0.988	T
PTGS2	5743	genome.wustl.edu	37	1	186645143	186645143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:186645143G>A	ENST00000367468.5	-	8	1280	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	382					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.Q382E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TCATGAATTTGAAAGGTGTCA	0.393																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											188.0	185.0	186.0					1																	186645143		2203	4300	6503	SO:0001587	stop_gained	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1144C>T	1.37:g.186645143G>A	ENSP00000356438:p.Gln382*		A8K802|Q16876	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.Q382*	ENST00000367468.5	37	c.1144	CCDS1371.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675557	0.88445	.	.	ENSG00000073756	ENST00000367468	.	.	.	5.6	3.55	0.40652	.	0.465947	0.27956	N	0.017180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-2.7083	9.9171	0.41442	0.0:0.1205:0.4988:0.3807	.	.	.	.	X	382	.	ENSP00000356438:Q382X	Q	-	1	0	PTGS2	184911766	1.000000	0.71417	0.873000	0.34254	0.220000	0.24768	3.591000	0.53986	1.433000	0.47394	0.650000	0.86243	CAA	PTGS2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.393	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	G	NM_000963		186645143	-1	no_errors	ENST00000367468	ensembl	human	known	70_37	nonsense	SNP	0.989	A
PVRL1	5818	genome.wustl.edu	37	11	119535753	119535753	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:119535753C>T	ENST00000264025.3	-	6	1788	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	420					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)		TCTGAGTCGTCGGGGTACTGC	0.632																																																	0													104.0	77.0	86.0					11																	119535753		2198	4293	6491	SO:0001583	missense	5818			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.1258G>A	11.37:g.119535753C>T	ENSP00000264025:p.Asp420Asn		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.D420N	ENST00000264025.3	37	c.1258	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	-	17.75	3.466826	0.63625	.	.	ENSG00000110400	ENST00000264025	T	0.18338	2.22	3.9	3.9	0.45041	.	0.327894	0.30269	N	0.010010	T	0.15478	0.0373	L	0.38175	1.15	0.80722	D	1	P	0.50943	0.94	B	0.40066	0.318	T	0.07195	-1.0785	10	0.72032	D	0.01	.	15.7712	0.78170	0.0:1.0:0.0:0.0	.	420	Q15223	PVRL1_HUMAN	N	420	ENSP00000264025:D420N	ENSP00000264025:D420N	D	-	1	0	PVRL1	119040963	1.000000	0.71417	0.040000	0.18447	0.428000	0.31595	7.239000	0.78182	2.108000	0.64289	0.479000	0.44913	GAC	PVRL1	-	NULL		0.632	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	C			119535753	-1	no_errors	ENST00000264025	ensembl	human	known	70_37	missense	SNP	0.959	T
PYGO1	26108	genome.wustl.edu	37	15	55839278	55839278	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:55839278G>T	ENST00000302000.6	-	3	297	c.203C>A	c.(202-204)gCt>gAt	p.A68D	PYGO1_ENST00000563719.1_Missense_Mutation_p.A68D	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	68	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TGGATTAGCAGCCACTAGATG	0.408																																																	0													58.0	57.0	57.0					15																	55839278		2193	4292	6485	SO:0001583	missense	26108			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.203C>A	15.37:g.55839278G>T	ENSP00000302327:p.Ala68Asp		A7Y2D6	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A68D	ENST00000302000.6	37	c.203	CCDS10155.1	15	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007755	0.75046	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.69306	-0.39	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.77807	-0.2450	10	0.62326	D	0.03	-15.3797	17.7164	0.88338	0.0:0.0:1.0:0.0	.	68;68	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	D	68	ENSP00000302327:A68D	ENSP00000302327:A68D	A	-	2	0	PYGO1	53626570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.654000	0.91092	2.490000	0.84030	0.585000	0.79938	GCT	PYGO1	-	NULL		0.408	PYGO1-001	KNOWN	basic|CCDS	protein_coding	PYGO1	HGNC	protein_coding	OTTHUMT00000254977.2	G	NM_015617		55839278	-1	no_errors	ENST00000302000	ensembl	human	known	70_37	missense	SNP	1.000	T
RAB3GAP1	22930	genome.wustl.edu	37	2	135888131	135888131	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:135888131A>G	ENST00000264158.8	+	13	1119	c.1076A>G	c.(1075-1077)gAt>gGt	p.D359G	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.D359G|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.D315G|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	359					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GAAACTGCTGATATAACTCAT	0.303																																																	0													34.0	37.0	36.0					2																	135888131		2203	4298	6501	SO:0001583	missense	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1076A>G	2.37:g.135888131A>G	ENSP00000264158:p.Asp359Gly		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	NULL	p.D359G	ENST00000264158.8	37	c.1076	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.255395	0.80135	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.71103	-0.54;-0.54;-0.54	5.29	5.29	0.74685	.	0.093515	0.64402	D	0.000001	T	0.68375	0.2994	L	0.59436	1.845	0.58432	D	0.999999	P;P	0.42456	0.78;0.78	B;B	0.40636	0.335;0.335	T	0.68788	-0.5316	10	0.33940	T	0.23	-21.4662	15.2313	0.73390	1.0:0.0:0.0:0.0	.	359;359	C9J837;Q15042	.;RB3GP_HUMAN	G	359;315;359	ENSP00000264158:D359G;ENSP00000444306:D315G;ENSP00000411418:D359G	ENSP00000264158:D359G	D	+	2	0	RAB3GAP1	135604601	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.569000	0.90744	2.004000	0.58718	0.482000	0.46254	GAT	RAB3GAP1	-	NULL		0.303	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	HGNC	protein_coding	OTTHUMT00000337514.2	A	NM_012233		135888131	+1	no_errors	ENST00000264158	ensembl	human	known	70_37	missense	SNP	1.000	G
RBAK	57786	genome.wustl.edu	37	7	5104371	5104371	+	Silent	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:5104371C>G	ENST00000353796.3	+	6	1608	c.1284C>G	c.(1282-1284)ccC>ccG	p.P428P	RBAK_ENST00000396912.1_Silent_p.P428P|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	428	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGAGAAGCCCTATCAGTGTA	0.398																																																	0													56.0	54.0	55.0					7																	5104371		2203	4300	6503	SO:0001819	synonymous_variant	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1284C>G	7.37:g.5104371C>G			A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P428	ENST00000353796.3	37	c.1284	CCDS5337.1	7																																																																																			RBAK	-	pfscan_Znf_C2H2		0.398	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	HGNC	protein_coding	OTTHUMT00000241640.2	C	NM_021163		5104371	+1	no_errors	ENST00000353796	ensembl	human	known	70_37	silent	SNP	0.979	G
RBBP6	5930	genome.wustl.edu	37	16	24557495	24557495	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr16:24557495G>A	ENST00000319715.4	+	2	610	c.178G>A	c.(178-180)Gat>Aat	p.D60N	RBBP6_ENST00000381039.3_Missense_Mutation_p.D60N|RBBP6_ENST00000452655.2_Missense_Mutation_p.D60N|RBBP6_ENST00000348022.2_Missense_Mutation_p.D60N	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	60	DWNN. {ECO:0000255|PROSITE- ProRule:PRU00612}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATATACTGATGATAATGCTCT	0.299																																																	0													37.0	39.0	38.0					16																	24557495		2190	4276	6466	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.178G>A	16.37:g.24557495G>A	ENSP00000317872:p.Asp60Asn		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.D60N	ENST00000319715.4	37	c.178	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.754324	0.96890	.	.	ENSG00000122257	ENST00000381039;ENST00000452655;ENST00000319715;ENST00000348022	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	6.08	6.08	0.98989	DWNN domain (2);	0.193384	0.53938	D	0.000052	T	0.80989	0.4730	M	0.88512	2.96	0.80722	D	1	D;D;D;D	0.76494	0.99;0.999;0.999;0.997	D;D;D;D	0.66847	0.915;0.913;0.947;0.928	T	0.82971	-0.0192	10	0.87932	D	0	-19.7724	20.6721	0.99693	0.0:0.0:1.0:0.0	.	60;60;60;60	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9;Q7Z6E9-3	.;.;RBBP6_HUMAN;.	N	60	ENSP00000370427:D60N;ENSP00000390537:D60N;ENSP00000317872:D60N;ENSP00000316291:D60N	ENSP00000317872:D60N	D	+	1	0	RBBP6	24464996	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.718000	0.98758	2.894000	0.99253	0.591000	0.81541	GAT	RBBP6	-	pfam_DWNN_domain		0.299	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	G	NM_006910		24557495	+1	no_errors	ENST00000319715	ensembl	human	known	70_37	missense	SNP	1.000	A
RBM39	9584	genome.wustl.edu	37	20	34304707	34304707	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:34304707C>T	ENST00000253363.6	-	10	869	c.846G>A	c.(844-846)atG>atA	p.M282I	RBM39_ENST00000528062.3_Missense_Mutation_p.M260I|RBM39_ENST00000407261.4_Missense_Mutation_p.M125I|RBM39_ENST00000361162.6_Missense_Mutation_p.M282I|snoU13_ENST00000459110.1_RNA			Q14498	RBM39_HUMAN	RNA binding motif protein 39	282	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CACTGTCCATCATCAGCTGGA	0.289																																																	0													32.0	30.0	31.0					20																	34304707		2201	4298	6499	SO:0001583	missense	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.846G>A	20.37:g.34304707C>T	ENSP00000253363:p.Met282Ile		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF	p.M282I	ENST00000253363.6	37	c.846	CCDS13266.1	20	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424466	0.25639	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.44	4.44	0.53790	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.035255	0.85682	D	0.000000	T	0.74966	0.3786	N	0.02391	-0.57	0.80722	D	1	B;B;B;B;B	0.23316	0.004;0.002;0.014;0.083;0.001	B;B;B;B;B	0.24701	0.029;0.029;0.032;0.055;0.029	T	0.71101	-0.4690	10	0.14252	T	0.57	.	17.601	0.88025	0.0:1.0:0.0:0.0	.	260;260;282;282;258	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	I	282;282;260;125	ENSP00000253363:M282I;ENSP00000354437:M282I;ENSP00000436747:M260I;ENSP00000384541:M125I	ENSP00000253363:M282I	M	-	3	0	RBM39	33768121	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.609000	0.82925	2.478000	0.83669	0.650000	0.86243	ATG	RBM39	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF		0.289	RBM39-002	KNOWN	basic|CCDS	protein_coding	RBM39	HGNC	protein_coding	OTTHUMT00000078931.2	C	NM_184237		34304707	-1	no_errors	ENST00000253363	ensembl	human	known	70_37	missense	SNP	1.000	T
RELN	5649	genome.wustl.edu	37	7	103191723	103191723	+	Silent	SNP	A	A	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:103191723A>T	ENST00000428762.1	-	41	6252	c.6093T>A	c.(6091-6093)acT>acA	p.T2031T	RELN_ENST00000424685.2_Silent_p.T2031T|RELN_ENST00000343529.5_Silent_p.T2031T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2031					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGAGCTATCAGTCGAACAGC	0.483																																					NSCLC(146;835 1944 15585 22231 52158)												0													48.0	42.0	44.0					7																	103191723		2203	4300	6503	SO:0001819	synonymous_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6093T>A	7.37:g.103191723A>T			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.T2031	ENST00000428762.1	37	c.6093	CCDS47680.1	7																																																																																			RELN	-	superfamily_Neuraminidase		0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	A	NM_005045		103191723	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	silent	SNP	0.987	T
RHPN1	114822	genome.wustl.edu	37	8	144460463	144460463	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:144460463G>A	ENST00000289013.6	+	5	507	c.406G>A	c.(406-408)Gag>Aag	p.E136K		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	136	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCACTTTGGAGAGGACGGCGC	0.647																																																	0													33.0	41.0	38.0					8																	144460463		2007	4154	6161	SO:0001583	missense	114822			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.406G>A	8.37:g.144460463G>A	ENSP00000289013:p.Glu136Lys		Q8TAV1|Q96PV9	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.E136K	ENST00000289013.6	37	c.406	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796565	0.70567	.	.	ENSG00000158106	ENST00000289013	T	0.19532	2.14	4.88	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	M	0.72894	2.215	0.49483	D	0.999798	D	0.76494	0.999	D	0.70016	0.967	T	0.36817	-0.9732	10	0.72032	D	0.01	-37.2745	11.6247	0.51138	0.0883:0.0:0.9117:0.0	.	136	Q8TCX5-2	.	K	136	ENSP00000289013:E136K	ENSP00000289013:E136K	E	+	1	0	RHPN1	144531606	1.000000	0.71417	0.997000	0.53966	0.095000	0.18619	4.774000	0.62339	1.039000	0.40074	0.591000	0.81541	GAG	RHPN1	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.647	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	G			144460463	+1	no_errors	ENST00000289013	ensembl	human	known	70_37	missense	SNP	1.000	A
RNF133	168433	genome.wustl.edu	37	7	122338409	122338409	+	Silent	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:122338409A>G	ENST00000340112.2	-	1	801	c.564T>C	c.(562-564)aaT>aaC	p.N188N	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	188					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCAAATAGTGATTCATCCAGA	0.383																																					Colon(198;1778 2057 7449 19869 45985)												0													124.0	109.0	114.0					7																	122338409		2203	4300	6503	SO:0001819	synonymous_variant	168433			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.564T>C	7.37:g.122338409A>G			A4D0W2|Q8N7G7	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.N188	ENST00000340112.2	37	c.564	CCDS5784.1	7																																																																																			RNF133	-	NULL		0.383	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	HGNC	protein_coding	OTTHUMT00000347413.1	A	NM_139175		122338409	-1	no_errors	ENST00000340112	ensembl	human	known	70_37	silent	SNP	1.000	G
RPL31	6160	genome.wustl.edu	37	2	101619193	101619193	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:101619193G>T	ENST00000264258.3	+	2	631	c.30G>T	c.(28-30)aaG>aaT	p.K10N	RPL31_ENST00000409650.1_Missense_Mutation_p.K10N|RPL31_ENST00000409028.4_Missense_Mutation_p.K10N|RPL31_ENST00000409320.3_Missense_Mutation_p.K10N|AC016738.4_ENST00000452364.1_RNA|RPL31_ENST00000409733.1_Missense_Mutation_p.K10N|RPL31_ENST00000409038.1_Missense_Mutation_p.K10N|RPL31_ENST00000409711.1_Missense_Mutation_p.K10N|RPL31_ENST00000409000.1_Missense_Mutation_p.K10N	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	10					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						GTGGCGAGAAGAAAAAGGGCC	0.537																																																	0													65.0	62.0	63.0					2																	101619193		2203	4300	6503	SO:0001583	missense	6160			X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"""L ribosomal proteins"""	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.30G>T	2.37:g.101619193G>T	ENSP00000264258:p.Lys10Asn		B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom	p.K10N	ENST00000264258.3	37	c.30	CCDS2049.1	2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195914	0.58126	.	.	ENSG00000071082	ENST00000264258;ENST00000409000;ENST00000409028;ENST00000409320;ENST00000409733;ENST00000409650;ENST00000409038;ENST00000456292;ENST00000409711	.	.	.	5.28	4.33	0.51752	.	0.000000	0.85682	U	0.000000	D	0.85465	0.5703	H	0.95328	3.655	0.48395	D	0.999643	B;D;B;B;B;B	0.63046	0.023;0.992;0.317;0.078;0.022;0.07	B;D;B;B;B;B	0.68765	0.028;0.96;0.109;0.059;0.018;0.061	D	0.88514	0.3091	9	0.62326	D	0.03	.	13.2863	0.60245	0.128:0.0:0.872:0.0	.	10;10;10;10;10;10	B7Z4E3;B7Z4C8;B7Z4K2;B8ZZK4;Q6IRZ0;P62899	.;.;.;.;.;RL31_HUMAN	N	10	.	ENSP00000264258:K10N	K	+	3	2	RPL31	100985625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.853000	0.48317	2.736000	0.93811	0.655000	0.94253	AAG	RPL31	-	NULL		0.537	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPL31	HGNC	protein_coding	OTTHUMT00000253182.3	G	NM_001098577		101619193	+1	no_errors	ENST00000264258	ensembl	human	known	70_37	missense	SNP	1.000	T
RPL7	6129	genome.wustl.edu	37	8	74203306	74203306	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:74203306G>A	ENST00000352983.2	-	6	1005	c.720C>T	c.(718-720)atC>atT	p.I240I	RPL7_ENST00000487500.1_5'UTR|RPL7_ENST00000396465.1_Silent_p.I200I|RPL7_ENST00000396466.1_Silent_p.I200I|RPL7_ENST00000396467.1_Silent_p.I200I			P18124	RL7_HUMAN	ribosomal protein L7	240					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)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			TAAGCCTGTTGATCTGGTCCT	0.428																																																	0													63.0	63.0	63.0					8																	74203306		2201	4300	6501	SO:0001819	synonymous_variant	6129			L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.720C>T	8.37:g.74203306G>A			A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Silent	SNP	pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.I240	ENST00000352983.2	37	c.720	CCDS6212.1	8																																																																																			RPL7	-	superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk		0.428	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7	HGNC	protein_coding	OTTHUMT00000259287.1	G	NM_000971		74203306	-1	no_errors	ENST00000352983	ensembl	human	known	70_37	silent	SNP	1.000	A
RREB1	6239	genome.wustl.edu	37	6	7182252	7182252	+	Missense_Mutation	SNP	C	C	A	rs74933950		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:7182252C>A	ENST00000349384.6	+	4	422	c.108C>A	c.(106-108)agC>agA	p.S36R	RP11-405O10.2_ENST00000451355.2_RNA|RREB1_ENST00000379938.2_Missense_Mutation_p.S36R|RREB1_ENST00000334984.6_Missense_Mutation_p.S36R|RREB1_ENST00000379933.3_Missense_Mutation_p.S36R	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	36					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATGGCGGGAGCCCCCAGGGGA	0.562																																																	0													71.0	74.0	73.0					6																	7182252		2203	4300	6503	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.108C>A	6.37:g.7182252C>A	ENSP00000305560:p.Ser36Arg		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S36R	ENST00000349384.6	37	c.108	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800375	0.50315	.	.	ENSG00000124782	ENST00000379933;ENST00000491191;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T;T;T	0.11385	2.93;3.19;2.9;3.05;2.93;2.78;2.9	6.03	5.16	0.70880	.	0.350617	0.26546	N	0.023773	T	0.04998	0.0134	N	0.19112	0.55	0.42892	D	0.994205	P;D;P	0.53462	0.935;0.96;0.834	P;P;B	0.49853	0.613;0.624;0.316	T	0.37478	-0.9704	10	0.46703	T	0.11	-36.5231	8.7793	0.34781	0.1245:0.7433:0.0:0.1322	.	36;36;36	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	R	36	ENSP00000369265:S36R;ENSP00000420519:S36R;ENSP00000369270:S36R;ENSP00000420299:S36R;ENSP00000305560:S36R;ENSP00000335574:S36R;ENSP00000419511:S36R	ENSP00000335574:S36R	S	+	3	2	RREB1	7127251	0.995000	0.38212	1.000000	0.80357	0.629000	0.37895	1.501000	0.35693	1.563000	0.49615	-0.140000	0.14226	AGC	RREB1	-	NULL		0.562	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	C			7182252	+1	no_errors	ENST00000379938	ensembl	human	known	70_37	missense	SNP	0.997	A
RXRB	6257	genome.wustl.edu	37	6	33168158	33168158	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:33168158G>A	ENST00000374680.3	-	1	307	c.96C>T	c.(94-96)gtC>gtT	p.V32V	RXRB_ENST00000374685.4_Silent_p.V32V|SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000544186.1_Intron|SLC39A7_ENST00000374675.3_5'Flank|RXRB_ENST00000413614.2_Missense_Mutation_p.S19L|RNY4P10_ENST00000365571.1_RNA	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	32	Modulating. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	ACCGGGACGCGACCCCACAAT	0.726																																																	0													10.0	8.0	8.0					6																	33168158		1431	2549	3980	SO:0001819	synonymous_variant	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.96C>T	6.37:g.33168158G>A			P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S19L	ENST00000374680.3	37	c.56	CCDS4768.1	6	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658149	0.67586	.	.	ENSG00000204231	ENST00000413614	D	0.93604	-3.25	4.72	4.72	0.59763	.	.	.	.	.	D	0.84160	0.5411	.	.	.	0.26933	N	0.966423	P	0.47545	0.897	B	0.35278	0.199	T	0.80812	-0.1215	8	0.87932	D	0	.	13.0281	0.58827	0.0:0.0:1.0:0.0	.	19	B7Z3E4	.	L	19	ENSP00000415561:S19L	ENSP00000415561:S19L	S	-	2	0	RXRB	33276136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.753000	0.55180	2.437000	0.82529	0.549000	0.68633	TCG	RXRB	-	NULL		0.726	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RXRB	HGNC	protein_coding	OTTHUMT00000076642.2	G	NM_021976		33168158	-1	no_errors	ENST00000413614	ensembl	human	known	70_37	missense	SNP	1.000	A
SAE1	10055	genome.wustl.edu	37	19	47658464	47658464	+	Silent	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:47658464C>G	ENST00000270225.7	+	5	689	c.621C>G	c.(619-621)gtC>gtG	p.V207V	SAE1_ENST00000392776.3_Silent_p.V207V|SAE1_ENST00000598840.1_Intron|SAE1_ENST00000540850.1_Silent_p.V33V|SAE1_ENST00000413379.3_Silent_p.V207V	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	207					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		CAACGATGGTCAAAAAGGTAT	0.483																																																	0													112.0	105.0	107.0					19																	47658464		2203	4300	6503	SO:0001819	synonymous_variant	10055			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.621C>G	19.37:g.47658464C>G			B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Silent	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like	p.V207	ENST00000270225.7	37	c.621	CCDS12696.1	19																																																																																			SAE1	-	superfamily_Molybdenum_cofac_synth_MoeB		0.483	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAE1	HGNC	protein_coding	OTTHUMT00000466775.1	C	NM_005500		47658464	+1	no_errors	ENST00000270225	ensembl	human	known	70_37	silent	SNP	0.989	G
SAP25	100316904	genome.wustl.edu	37	7	100170081	100170081	+	Silent	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:100170081C>G	ENST00000538735.1	-	6	606	c.429G>C	c.(427-429)ctG>ctC	p.L143L		NM_001168682.1	NP_001162153.1	Q8TEE9	SAP25_HUMAN	Sin3A-associated protein, 25kDa	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGAGAGCGATCAGCTCCGGCC	0.706																																																	0													13.0	16.0	15.0					7																	100170081		691	1590	2281	SO:0001819	synonymous_variant	100316904				CCDS55137.1	7q22.1	2011-05-19			ENSG00000205307	ENSG00000205307			41908	protein-coding gene	gene with protein product						16449650	Standard	NM_001168682		Approved	FLJ00248	uc022aip.1	Q8TEE9		ENST00000538735.1:c.429G>C	7.37:g.100170081C>G				Silent	SNP	NULL	p.L143	ENST00000538735.1	37	c.429	CCDS55137.1	7																																																																																			SAP25	-	NULL		0.706	SAP25-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP25	HGNC	protein_coding		C			100170081	-1	no_errors	ENST00000538735	ensembl	human	known	70_37	silent	SNP	0.867	G
SASH1	23328	genome.wustl.edu	37	6	148846469	148846469	+	Silent	SNP	C	C	T	rs370605056		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:148846469C>T	ENST00000367467.3	+	11	1727	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L	AL033378.1_ENST00000411390.2_RNA	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	418					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAATCGCTCTCTGCACGTTGG	0.448																																																	0								C		0,4406		0,0,2203	205.0	189.0	194.0		1252	5.6	1.0	6		194	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SASH1	NM_015278.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		418/1248	148846469	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1252C>T	6.37:g.148846469C>T			Q5TGN5|Q8TAI0|Q9H7R7	Silent	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.L418	ENST00000367467.3	37	c.1252	CCDS5212.1	6																																																																																			SASH1	-	pfam_rSAM/SH3_domain-containing		0.448	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	C	NM_015278		148846469	+1	no_errors	ENST00000367467	ensembl	human	known	70_37	silent	SNP	1.000	T
SDCCAG3	10807	genome.wustl.edu	37	9	139298550	139298550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:139298550G>A	ENST00000357365.3	-	9	1294	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	SDCCAG3_ENST00000371725.3_Nonsense_Mutation_p.Q316*|SDCCAG3_ENST00000298537.7_Nonsense_Mutation_p.Q366*|SDCCAG3_ENST00000461693.1_5'UTR	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	389						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CGGAGGTTCTGCAGGGCCACG	0.642																																																	0													91.0	98.0	96.0					9																	139298550		2000	4161	6161	SO:0001587	stop_gained	10807			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.1165C>T	9.37:g.139298550G>A	ENSP00000349929:p.Gln389*		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Nonsense_Mutation	SNP	NULL	p.Q389*	ENST00000357365.3	37	c.1165	CCDS43904.1	9	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247620	0.39697	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725	.	.	.	4.66	4.66	0.58398	.	0.138466	0.48767	D	0.000169	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-8.2294	12.7736	0.57436	0.0:0.1649:0.8351:0.0	.	.	.	.	X	389;366;316	.	ENSP00000298537:Q366X	Q	-	1	0	SDCCAG3	138418371	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	3.155000	0.50700	2.281000	0.76405	0.655000	0.94253	CAG	SDCCAG3	-	NULL		0.642	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	G	NM_006643		139298550	-1	no_errors	ENST00000357365	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SDCCAG3	10807	genome.wustl.edu	37	9	139302363	139302363	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:139302363G>C	ENST00000357365.3	-	4	446	c.317C>G	c.(316-318)gCa>gGa	p.A106G	PMPCA_ENST00000371720.1_5'Flank|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.A33G|PMPCA_ENST00000399219.3_5'Flank|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.A83G|SDCCAG3_ENST00000461693.1_5'Flank|PMPCA_ENST00000371717.3_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	106						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GAATGGATTTGCCTCTTCCAG	0.438																																																	0													88.0	90.0	90.0					9																	139302363		1870	4106	5976	SO:0001583	missense	10807			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.317C>G	9.37:g.139302363G>C	ENSP00000349929:p.Ala106Gly		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	NULL	p.A106G	ENST00000357365.3	37	c.317	CCDS43904.1	9	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071320	0.55646	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723;ENST00000446833	T;T;T;T	0.39229	2.31;2.37;2.35;1.09	5.34	4.44	0.53790	.	0.329688	0.31821	N	0.007003	T	0.52805	0.1757	M	0.63843	1.955	0.36829	D	0.886789	D;D;D	0.61697	0.99;0.981;0.981	P;P;P	0.55577	0.779;0.705;0.705	T	0.62487	-0.6844	10	0.54805	T	0.06	-14.338	11.5675	0.50813	0.0871:0.0:0.9129:0.0	.	33;83;106	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	G	106;83;33;56;97	ENSP00000349929:A106G;ENSP00000298537:A83G;ENSP00000360790:A33G;ENSP00000360788:A56G	ENSP00000298537:A83G	A	-	2	0	SDCCAG3	138422184	0.966000	0.33281	0.879000	0.34478	0.986000	0.74619	3.827000	0.55745	1.241000	0.43820	0.650000	0.86243	GCA	SDCCAG3	-	NULL		0.438	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	G	NM_006643		139302363	-1	no_errors	ENST00000357365	ensembl	human	known	70_37	missense	SNP	0.999	C
SDR16C5	195814	genome.wustl.edu	37	8	57219286	57219286	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:57219286A>G	ENST00000303749.3	-	5	1296	c.659T>C	c.(658-660)aTt>aCt	p.I220T	SDR16C5_ENST00000396721.2_Missense_Mutation_p.I176T|SDR16C5_ENST00000522671.1_Missense_Mutation_p.I220T	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	220					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GGGGCACACAATCGTGGTTTT	0.333																																																	0													79.0	77.0	78.0					8																	57219286		2203	4300	6503	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.659T>C	8.37:g.57219286A>G	ENSP00000307607:p.Ile220Thr		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.I220T	ENST00000303749.3	37	c.659	CCDS6167.1	8	.	.	.	.	.	.	.	.	.	.	A	18.74	3.687514	0.68157	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;T	0.88896	-2.44;-2.44;0.78	5.55	5.55	0.83447	NAD(P)-binding domain (1);	0.052550	0.85682	D	0.000000	D	0.87374	0.6161	L	0.46741	1.465	0.58432	D	0.999999	B;P;P	0.36789	0.017;0.57;0.544	B;B;P	0.45071	0.028;0.274;0.468	D	0.84084	0.0386	10	0.21014	T	0.42	.	11.6421	0.51240	0.9289:0.0:0.0711:0.0	.	176;220;220	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	T	176;220;220;220	ENSP00000379947:I176T;ENSP00000307607:I220T;ENSP00000431010:I220T	ENSP00000307607:I220T	I	-	2	0	SDR16C5	57381840	1.000000	0.71417	0.477000	0.27303	0.932000	0.56968	7.257000	0.78362	2.117000	0.64856	0.533000	0.62120	ATT	SDR16C5	-	prints_Glc/ribitol_DH		0.333	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR16C5	HGNC	protein_coding	OTTHUMT00000378235.1	A	NM_138969		57219286	-1	no_errors	ENST00000303749	ensembl	human	known	70_37	missense	SNP	0.976	G
SGIP1	84251	genome.wustl.edu	37	1	67160939	67160939	+	Intron	DEL	A	A	-	rs570067011	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:67160939delA	ENST00000371037.4	+	18	1647				SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000435165.2_5'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTCCTGAACTAAAAAAAAAAA	0.443													|||unknown(HR)	709	0.141573	0.1891	0.1326	5008	,	,		18030	0.0119		0.2575	False		,,,				2504	0.0982																0																																										SO:0001627	intron_variant	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1571-178A>-	1.37:g.67160939delA			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	RNA	DEL	-	NULL	ENST00000371037.4	37	NULL	CCDS30744.1	1																																																																																			SGIP1	-	-		0.443	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	A	NM_032291		67160939	+1	no_errors	ENST00000320161	ensembl	human	putative	70_37	rna	DEL	0.009	-
SH3D21	79729	genome.wustl.edu	37	1	36786216	36786216	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:36786216G>C	ENST00000426732.2	+	13	1889	c.1604G>C	c.(1603-1605)aGa>aCa	p.R535T	SH3D21_ENST00000505871.1_Missense_Mutation_p.R540T|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000453908.2_Missense_Mutation_p.R651T|SH3D21_ENST00000312808.4_Missense_Mutation_p.R297T|SH3D21_ENST00000474766.1_3'UTR			A4FU49	SH321_HUMAN	SH3 domain containing 21	535						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CCCATAGAAAGAGCCTTTGCC	0.557																																																	0													65.0	75.0	71.0					1																	36786216		2203	4300	6503	SO:0001583	missense	79729			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.1604G>C	1.37:g.36786216G>C	ENSP00000408613:p.Arg535Thr		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.R651T	ENST00000426732.2	37	c.1952		1	.	.	.	.	.	.	.	.	.	.	G	7.127	0.579064	0.13686	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.43688	1.4;1.83;0.94;1.83	3.19	-5.48	0.02592	.	197.434000	0.00357	N	0.000026	T	0.15782	0.0380	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19418	-1.0306	10	0.13470	T	0.59	.	7.5928	0.28031	0.0:0.5558:0.2953:0.1488	.	540;535	A4FU49-3;A4FU49	.;SH321_HUMAN	T	651;535;297;540	ENSP00000403476:R651T;ENSP00000408613:R535T;ENSP00000321936:R297T;ENSP00000421294:R540T	ENSP00000321936:R297T	R	+	2	0	SH3D21	36558803	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.900000	0.01599	-1.158000	0.02811	-1.764000	0.00666	AGA	SH3D21	-	NULL		0.557	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	HGNC	protein_coding		G	NM_024676		36786216	+1	no_errors	ENST00000453908	ensembl	human	known	70_37	missense	SNP	0.000	C
SH3PXD2B	285590	genome.wustl.edu	37	5	171766545	171766545	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:171766545G>C	ENST00000311601.5	-	13	1734	c.1564C>G	c.(1564-1566)Ctc>Gtc	p.L522V	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	522					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGCGGAGGGAGGCTGGGCTTC	0.627																																																	0													71.0	68.0	69.0					5																	171766545		2203	4300	6503	SO:0001583	missense	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1564C>G	5.37:g.171766545G>C	ENSP00000309714:p.Leu522Val		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.L522V	ENST00000311601.5	37	c.1564	CCDS34291.1	5	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407598	0.42715	.	.	ENSG00000174705	ENST00000311601	T	0.67345	-0.26	5.71	4.84	0.62591	.	0.076291	0.53938	D	0.000049	T	0.66197	0.2765	L	0.59436	1.845	0.53688	D	0.999978	D	0.56521	0.976	P	0.46659	0.523	T	0.67015	-0.5777	9	.	.	.	-29.5218	12.599	0.56487	0.0805:0.0:0.9195:0.0	.	522	A1X283	SPD2B_HUMAN	V	522	ENSP00000309714:L522V	.	L	-	1	0	SH3PXD2B	171699150	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.261000	0.51530	1.422000	0.47177	0.561000	0.74099	CTC	SH3PXD2B	-	NULL		0.627	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	HGNC	protein_coding	OTTHUMT00000372449.1	G	NM_017963		171766545	-1	no_errors	ENST00000311601	ensembl	human	known	70_37	missense	SNP	1.000	C
SLAMF8	56833	genome.wustl.edu	37	1	159799818	159799818	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:159799818T>A	ENST00000289707.5	+	2	352	c.203T>A	c.(202-204)cTg>cAg	p.L68Q	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	68					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CGAGGCTCCCTGGAGACTCTG	0.632																																																	0													105.0	113.0	110.0					1																	159799818		2203	4300	6503	SO:0001583	missense	56833			AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.203T>A	1.37:g.159799818T>A	ENSP00000289707:p.Leu68Gln		Q32MC6|Q5VU15	Missense_Mutation	SNP	pfscan_Ig-like	p.L68Q	ENST00000289707.5	37	c.203	CCDS1188.1	1	.	.	.	.	.	.	.	.	.	.	T	7.683	0.689465	0.14973	.	.	ENSG00000158714	ENST00000289707	T	0.22945	1.93	4.44	-5.3	0.02738	.	0.896444	0.09496	N	0.794296	T	0.05318	0.0141	N	0.24115	0.695	0.09310	N	1	P	0.44578	0.838	P	0.44990	0.466	T	0.14309	-1.0477	10	0.13853	T	0.58	0.0099	7.816	0.29260	0.1501:0.5953:0.0:0.2546	.	68	Q9P0V8	SLAF8_HUMAN	Q	68	ENSP00000289707:L68Q	ENSP00000289707:L68Q	L	+	2	0	SLAMF8	158066442	0.000000	0.05858	0.011000	0.14972	0.215000	0.24574	-0.943000	0.03917	-1.021000	0.03350	0.260000	0.18958	CTG	SLAMF8	-	NULL		0.632	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF8	HGNC	protein_coding	OTTHUMT00000085983.1	T	NM_020125		159799818	+1	no_errors	ENST00000289707	ensembl	human	known	70_37	missense	SNP	0.002	A
SLC15A1	6564	genome.wustl.edu	37	13	99356572	99356572	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr13:99356572G>A	ENST00000376503.5	-	17	1442	c.1387C>T	c.(1387-1389)Cta>Tta	p.L463L		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	463					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCCCACACTAGAAGCGTGTGG	0.458																																																	0													156.0	144.0	148.0					13																	99356572		2203	4300	6503	SO:0001819	synonymous_variant	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1387C>T	13.37:g.99356572G>A			Q5VW82	Silent	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.L463	ENST00000376503.5	37	c.1387	CCDS9489.1	13																																																																																			SLC15A1	-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport		0.458	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	HGNC	protein_coding	OTTHUMT00000045560.3	G	NM_005073		99356572	-1	no_errors	ENST00000376503	ensembl	human	known	70_37	silent	SNP	0.610	A
SLC3A2	6520	genome.wustl.edu	37	11	62651929	62651929	+	Splice_Site	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:62651929G>A	ENST00000377890.2	+	7	1162	c.994G>A	c.(994-996)Gat>Aat	p.D332N	SLC3A2_ENST00000535296.1_Splice_Site_p.D301N|SLC3A2_ENST00000377891.2_Splice_Site_p.D333N|SLC3A2_ENST00000536981.1_De_novo_Start_OutOfFrame|SLC3A2_ENST00000377889.2_Splice_Site_p.D270N|SLC3A2_ENST00000338663.7_Splice_Site_p.D231N|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377892.1_Splice_Site_p.D363N	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	332					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CCCCCTATAGGATGCTCTGGA	0.507											OREG0021032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													116.0	113.0	114.0					11																	62651929		2201	4298	6499	SO:0001630	splice_region_variant	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.994-1G>A	11.37:g.62651929G>A		1062	Q13543	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	p.D363N	ENST00000377890.2	37	c.1087	CCDS8039.2	11	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093300	0.56075	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606	D;D;D;D;D;D	0.98493	-4.85;-4.85;-4.85;-4.85;-4.96;-4.85	4.49	2.6	0.31112	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.011660	0.07895	N	0.971828	D	0.95743	0.8615	L	0.47716	1.5	0.32026	N	0.600108	B;B;B;B;P	0.38597	0.133;0.057;0.436;0.372;0.639	B;B;B;B;B	0.35470	0.034;0.02;0.203;0.068;0.129	D	0.92789	0.6247	10	0.39692	T	0.17	0.0037	7.1811	0.25774	0.0918:0.0:0.739:0.1692	.	270;301;332;231;363	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	N	363;333;332;333;270;301;231;213	ENSP00000367124:D363N;ENSP00000367123:D333N;ENSP00000367122:D332N;ENSP00000367121:D270N;ENSP00000444236:D301N;ENSP00000340815:D231N	ENSP00000340815:D231N	D	+	1	0	SLC3A2	62408505	.	.	0.358000	0.25811	0.501000	0.33797	.	.	0.510000	0.28216	0.313000	0.20887	GAT	SLC3A2	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.507	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	SLC3A2	HGNC	protein_coding	OTTHUMT00000157306.1	G	NM_001012661	Missense_Mutation	62651929	+1	no_errors	ENST00000377892	ensembl	human	known	70_37	missense	SNP	0.750	A
SLC9A3	6550	genome.wustl.edu	37	5	476336	476336	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:476336C>T	ENST00000264938.3	-	13	2057	c.2048G>A	c.(2047-2049)cGg>cAg	p.R683Q	CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.R674Q|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	683					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCACGCTCCCGCTTGTACAG	0.657																																																	0													48.0	48.0	48.0					5																	476336		2203	4300	6503	SO:0001583	missense	6550				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2048G>A	5.37:g.476336C>T	ENSP00000264938:p.Arg683Gln		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_bac,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.R683Q	ENST00000264938.3	37	c.2048	CCDS3855.1	5	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838107	0.50951	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.75704	-0.96;-0.96	4.73	4.73	0.59995	.	0.330346	0.31495	N	0.007556	T	0.67757	0.2927	M	0.62723	1.935	0.29937	N	0.821404	P;P	0.50528	0.936;0.84	B;B	0.33960	0.173;0.129	T	0.74472	-0.3654	10	0.62326	D	0.03	.	15.4679	0.75416	0.0:1.0:0.0:0.0	.	674;683	E9PF67;P48764	.;SL9A3_HUMAN	Q	683;674	ENSP00000264938:R683Q;ENSP00000422983:R674Q	ENSP00000264938:R683Q	R	-	2	0	SLC9A3	529336	0.997000	0.39634	0.962000	0.40283	0.728000	0.41692	3.194000	0.51005	2.169000	0.68431	0.453000	0.30009	CGG	SLC9A3	-	NULL		0.657	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3	HGNC	protein_coding	OTTHUMT00000206677.2	C	NM_004174		476336	-1	no_errors	ENST00000264938	ensembl	human	known	70_37	missense	SNP	1.000	T
SLCO6A1	133482	genome.wustl.edu	37	5	101811489	101811489	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:101811489C>G	ENST00000506729.1	-	4	982	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.E209Q|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.E271Q|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.E209Q|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.E209Q			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GATGTACATTCTGCAATACCT	0.353																																																	0													106.0	99.0	102.0					5																	101811489		2203	4300	6503	SO:0001583	missense	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.811G>C	5.37:g.101811489C>G	ENSP00000421339:p.Glu271Gln		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.E271Q	ENST00000506729.1	37	c.811	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707012	0.30232	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	3.01	3.01	0.34805	Major facilitator superfamily domain, general substrate transporter (1);	0.883336	0.09550	N	0.787089	D	0.85952	0.5817	M	0.63428	1.95	0.09310	N	1	D;P;D	0.76494	0.999;0.911;0.998	D;P;D	0.68765	0.929;0.671;0.96	T	0.73065	-0.4100	10	0.28530	T	0.3	.	9.7381	0.40401	0.0:1.0:0.0:0.0	.	209;209;271	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	Q	271;271;209;209;209	ENSP00000421339:E271Q;ENSP00000369135:E271Q;ENSP00000373671:E209Q;ENSP00000421990:E209Q;ENSP00000369138:E209Q	ENSP00000369135:E271Q	E	-	1	0	SLCO6A1	101839388	0.094000	0.21725	0.016000	0.15963	0.033000	0.12548	1.544000	0.36158	1.978000	0.57642	0.655000	0.94253	GAA	SLCO6A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.353	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	C	NM_173488		101811489	-1	no_errors	ENST00000379807	ensembl	human	known	70_37	missense	SNP	0.019	G
SLITRK2	84631	genome.wustl.edu	37	X	144905849	144905849	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:144905849G>A	ENST00000370490.1	+	1	6161	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	SLITRK2_ENST00000413937.2_Missense_Mutation_p.G636R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G636R|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G636R|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G636R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	636					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCTGTTTTGGGGCTGGTTT	0.433																																																	0													109.0	87.0	94.0					X																	144905849		2203	4300	6503	SO:0001583	missense	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1906G>A	X.37:g.144905849G>A	ENSP00000359521:p.Gly636Arg		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G636R	ENST00000370490.1	37	c.1906	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667987	0.47677	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.51325	0.76;0.71;0.71;0.71;0.71;0.71	5.91	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	N	0.08118	0	0.58432	D	0.999998	D	0.71674	0.998	D	0.68621	0.959	T	0.49041	-0.8980	10	0.87932	D	0	-2.828	8.2421	0.31667	0.0835:0.0:0.7606:0.1559	.	636	Q9H156	SLIK2_HUMAN	R	636	ENSP00000334374:G636R;ENSP00000411681:G636R;ENSP00000359521:G636R;ENSP00000397015:G636R;ENSP00000407347:G636R;ENSP00000412010:G636R	ENSP00000334374:G636R	G	+	1	0	SLITRK2	144713541	1.000000	0.71417	0.889000	0.34880	0.360000	0.29518	6.819000	0.75262	0.605000	0.29947	0.600000	0.82982	GGG	SLITRK2	-	NULL		0.433	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	G	NM_032539		144905849	+1	no_errors	ENST00000370490	ensembl	human	known	70_37	missense	SNP	1.000	A
SMCHD1	23347	genome.wustl.edu	37	18	2762231	2762231	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:2762231C>G	ENST00000320876.6	+	36	4901	c.4563C>G	c.(4561-4563)atC>atG	p.I1521M	SMCHD1_ENST00000261598.8_Missense_Mutation_p.I1521M|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1521					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATCTTAGTATCACGGTAATGT	0.358																																																	0													149.0	138.0	141.0					18																	2762231		1847	4083	5930	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4563C>G	18.37:g.2762231C>G	ENSP00000326603:p.Ile1521Met		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.I1521M	ENST00000320876.6	37	c.4563	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667676	0.29604	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.29397	1.59;1.57	5.58	-0.454	0.12197	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.67953	2.075	0.80722	D	1	B	0.22909	0.077	B	0.34180	0.177	T	0.13872	-1.0493	10	0.87932	D	0	-5.1648	5.9537	0.19261	0.1557:0.3393:0.0:0.505	.	1521	A6NHR9	SMHD1_HUMAN	M	1521	ENSP00000326603:I1521M;ENSP00000261598:I1521M	ENSP00000261598:I1521M	I	+	3	3	SMCHD1	2752231	0.991000	0.36638	0.983000	0.44433	0.958000	0.62258	0.154000	0.16343	0.039000	0.15632	0.650000	0.86243	ATC	SMCHD1	-	NULL		0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	C			2762231	+1	no_errors	ENST00000320876	ensembl	human	known	70_37	missense	SNP	0.920	G
SNAPC4	6621	genome.wustl.edu	37	9	139283032	139283032	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:139283032G>C	ENST00000298532.2	-	10	1355	c.987C>G	c.(985-987)agC>agG	p.S329R		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		ACTGGAAGGCGCTGCGGCTGG	0.597																																																	0													102.0	88.0	93.0					9																	139283032		2203	4300	6503	SO:0001583	missense	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.987C>G	9.37:g.139283032G>C	ENSP00000298532:p.Ser329Arg			Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S329R	ENST00000298532.2	37	c.987	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672738	0.47781	.	.	ENSG00000165684	ENST00000298532	T	0.29655	1.56	5.0	-5.04	0.02964	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.047437	0.85682	D	0.000000	T	0.43433	0.1247	M	0.83953	2.67	0.34838	D	0.740369	D	0.54601	0.967	P	0.56514	0.8	T	0.56263	-0.8008	10	0.87932	D	0	-20.6893	9.4222	0.38559	0.5774:0.0:0.3232:0.0995	.	329	Q5SXM2	SNPC4_HUMAN	R	329	ENSP00000298532:S329R	ENSP00000298532:S329R	S	-	3	2	SNAPC4	138402853	0.001000	0.12720	0.937000	0.37676	0.526000	0.34562	-1.849000	0.01672	-0.984000	0.03507	-0.258000	0.10820	AGC	SNAPC4	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.597	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	G	NM_003086		139283032	-1	no_errors	ENST00000298532	ensembl	human	known	70_37	missense	SNP	0.380	C
SNCAIP	9627	genome.wustl.edu	37	5	121786382	121786382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:121786382G>T	ENST00000261368.8	+	10	2102	c.1840G>T	c.(1840-1842)Gaa>Taa	p.E614*	CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Nonsense_Mutation_p.E554*|SNCAIP_ENST00000379533.2_Nonsense_Mutation_p.E661*|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261367.7_Nonsense_Mutation_p.E661*|SNCAIP_ENST00000542191.1_Nonsense_Mutation_p.E172*|SNCAIP_ENST00000379538.3_Nonsense_Mutation_p.E248*|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000414317.2_Nonsense_Mutation_p.E216*|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	614				E -> G (in Ref. 6; AAH40552). {ECO:0000305}.	cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGCAAAAGATGAAGATTCTGA	0.473																																																	0													58.0	68.0	65.0					5																	121786382		2202	4300	6502	SO:0001587	stop_gained	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1840G>T	5.37:g.121786382G>T	ENSP00000261368:p.Glu614*		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E661*	ENST00000261368.8	37	c.1981	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	G	40	7.948942	0.98577	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	.	.	.	6.06	6.06	0.98353	.	0.162693	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-28.5202	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	172;554;614;661;554;248;661;216;254	.	ENSP00000261367:E661X	E	+	1	0	SNCAIP	121814281	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.906000	0.87423	2.882000	0.98803	0.655000	0.94253	GAA	SNCAIP	-	NULL		0.473	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	G			121786382	+1	no_errors	ENST00000379533	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SNRNP200	23020	genome.wustl.edu	37	2	96950262	96950262	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:96950262G>A	ENST00000323853.5	-	31	4303	c.4226C>T	c.(4225-4227)aCa>aTa	p.T1409I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1409	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						GGTCTCGCCTGTCAGGAGTAC	0.562																																																	0													184.0	147.0	160.0					2																	96950262		2203	4300	6503	SO:0001583	missense	23020			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.4226C>T	2.37:g.96950262G>A	ENSP00000317123:p.Thr1409Ile		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.T1409I	ENST00000323853.5	37	c.4226	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499139	0.85069	.	.	ENSG00000144028	ENST00000323853;ENST00000543553	T	0.38077	1.16	5.62	5.62	0.85841	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	M	0.89904	3.07	0.80722	D	1	P	0.52577	0.954	P	0.58873	0.847	T	0.71213	-0.4659	10	0.56958	D	0.05	-15.248	18.4325	0.90632	0.0:0.0:1.0:0.0	.	1409	O75643	U520_HUMAN	I	1409;43	ENSP00000317123:T1409I	ENSP00000317123:T1409I	T	-	2	0	SNRNP200	96313989	1.000000	0.71417	0.942000	0.38095	0.682000	0.39822	9.448000	0.97600	2.659000	0.90383	0.655000	0.94253	ACA	SNRNP200	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.562	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	G	NM_014014		96950262	-1	no_errors	ENST00000323853	ensembl	human	known	70_37	missense	SNP	1.000	A
SORBS3	10174	genome.wustl.edu	37	8	22419414	22419414	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:22419414A>G	ENST00000240123.7	+	7	937	c.554A>G	c.(553-555)cAc>cGc	p.H185R		NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	185	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				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)		AGACCTGCCCACAGGCCCGGC	0.687											OREG0018612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53.0	53.0	53.0					8																	22419414		2203	4300	6503	SO:0001583	missense	10174				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.554A>G	8.37:g.22419414A>G	ENSP00000240123:p.His185Arg	756	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.H185R	ENST00000240123.7	37	c.554	CCDS6031.1	8	.	.	.	.	.	.	.	.	.	.	A	6.379	0.437966	0.12104	.	.	ENSG00000120896	ENST00000240123	T	0.05649	3.41	3.97	-1.55	0.08558	Sorbin-like (1);	1.813320	0.03136	N	0.165891	T	0.03348	0.0097	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.40213	-0.9575	10	0.24483	T	0.36	0.0056	3.8932	0.09128	0.1607:0.2877:0.4538:0.0978	.	185	O60504	VINEX_HUMAN	R	185	ENSP00000240123:H185R	ENSP00000240123:H185R	H	+	2	0	SORBS3	22475359	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.475000	0.06599	-0.289000	0.09038	-0.302000	0.09304	CAC	SORBS3	-	pfscan_Sorb		0.687	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORBS3	HGNC	protein_coding	OTTHUMT00000254647.3	A	NM_005775		22419414	+1	no_errors	ENST00000240123	ensembl	human	known	70_37	missense	SNP	0.000	G
SORCS1	114815	genome.wustl.edu	37	10	108337108	108337108	+	3'UTR	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr10:108337108G>T	ENST00000263054.6	-	0	3584				SORCS1_ENST00000369698.1_3'UTR|SORCS1_ENST00000344440.6_Intron	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGTCATGAAGGATGATGTACT	0.418																																																	0													114.0	91.0	98.0					10																	108337108		692	1591	2283	SO:0001624	3_prime_UTR_variant	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.*70C>A	10.37:g.108337108G>T			A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	RNA	SNP	-	NULL	ENST00000263054.6	37	NULL	CCDS7559.1	10																																																																																			SORCS1	-	-		0.418	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	G	NM_052918		108337108	-1	no_errors	ENST00000473866	ensembl	human	known	70_37	rna	SNP	1.000	T
SP6	80320	genome.wustl.edu	37	17	45924697	45924697	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:45924697C>G	ENST00000536300.1	-	2	1430	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	SP6_ENST00000342234.2_Missense_Mutation_p.E367Q	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	367					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCCTCGGCCTCGCGTTTGCCT	0.731																																																	0													7.0	10.0	9.0					17																	45924697		2143	4204	6347	SO:0001583	missense	80320				CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.1099G>C	17.37:g.45924697C>G	ENSP00000438209:p.Glu367Gln		B3KXS4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E367Q	ENST00000536300.1	37	c.1099	CCDS11520.1	17	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885862	0.33348	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.08193	3.12;3.12	4.4	3.43	0.39272	.	0.000000	0.43919	D	0.000511	T	0.04861	0.0131	N	0.08118	0	0.09310	N	0.999999	B	0.16166	0.016	B	0.17979	0.02	T	0.35475	-0.9787	10	0.48119	T	0.1	.	11.312	0.49368	0.0:0.9088:0.0:0.0912	.	367	Q3SY56	SP6_HUMAN	Q	367	ENSP00000340799:E367Q;ENSP00000438209:E367Q	ENSP00000340799:E367Q	E	-	1	0	SP6	43279696	0.990000	0.36364	0.726000	0.30738	0.245000	0.25701	2.799000	0.47892	1.058000	0.40530	0.462000	0.41574	GAG	SP6	-	NULL		0.731	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SP6	HGNC	protein_coding	OTTHUMT00000441395.1	C	NM_199262		45924697	-1	no_errors	ENST00000342234	ensembl	human	known	70_37	missense	SNP	0.278	G
SPHKAP	80309	genome.wustl.edu	37	2	228883518	228883518	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:228883518G>T	ENST00000392056.3	-	7	2098	c.2052C>A	c.(2050-2052)caC>caA	p.H684Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.H684Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	684						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATTTTTGTGGTGAACTTCAT	0.403																																																	0													255.0	234.0	241.0					2																	228883518		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2052C>A	2.37:g.228883518G>T	ENSP00000375909:p.His684Gln		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.H684Q	ENST00000392056.3	37	c.2052	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	5.207	0.223770	0.09863	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.48522	0.81;0.81	5.62	3.83	0.44106	.	0.635145	0.17599	N	0.168477	T	0.40670	0.1126	L	0.53249	1.67	0.25624	N	0.986361	B;B	0.28850	0.09;0.225	B;B	0.28305	0.021;0.088	T	0.36890	-0.9729	10	0.52906	T	0.07	.	7.1235	0.25458	0.1524:0.1472:0.7004:0.0	.	684;684	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Q	684	ENSP00000375909:H684Q;ENSP00000339886:H684Q	ENSP00000339886:H684Q	H	-	3	2	SPHKAP	228591762	0.981000	0.34729	0.200000	0.23457	0.485000	0.33311	1.640000	0.37186	0.844000	0.35094	0.655000	0.94253	CAC	SPHKAP	-	NULL		0.403	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	G	NM_030623		228883518	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	0.824	T
SPTBN5	51332	genome.wustl.edu	37	15	42146345	42146345	+	Missense_Mutation	SNP	C	C	T	rs200748371	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:42146345C>T	ENST00000320955.6	-	57	9904	c.9677G>A	c.(9676-9678)gGa>gAa	p.G3226E	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3226					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)		CTGCATCCTTCCCTGGAGCTC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16125	0.0		0.0	False		,,,				2504	0.0																0								C	GLU/GLY	5,4099		0,5,2047	33.0	35.0	35.0		9572	2.2	0.0	15		35	0,8418		0,0,4209	yes	missense	SPTBN5	NM_016642.2	98	0,5,6256	TT,TC,CC		0.0,0.1218,0.0399	possibly-damaging	3191/3640	42146345	5,12517	2052	4209	6261	SO:0001583	missense	51332			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.9677G>A	15.37:g.42146345C>T	ENSP00000317790:p.Gly3226Glu			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.G3226E	ENST00000320955.6	37	c.9677		15	.	.	.	.	.	.	.	.	.	.	.	12.40	1.928067	0.34002	0.001218	0.0	ENSG00000137877	ENST00000320955	T	0.45276	0.9	4.1	2.15	0.27550	.	0.386399	0.24109	N	0.041469	T	0.40743	0.1129	L	0.27053	0.805	0.09310	N	1	D	0.58268	0.982	P	0.57620	0.824	T	0.36768	-0.9734	10	0.11485	T	0.65	.	13.7404	0.62845	0.0:0.7054:0.2945:0.0	.	3226	Q9NRC6	SPTN5_HUMAN	E	3226	ENSP00000317790:G3226E	ENSP00000317790:G3226E	G	-	2	0	SPTBN5	39933637	0.009000	0.17119	0.007000	0.13788	0.003000	0.03518	1.405000	0.34635	0.358000	0.24211	0.467000	0.42956	GGA	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.622	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	C	NM_016642		42146345	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	missense	SNP	0.331	T
SPTLC1	10558	genome.wustl.edu	37	9	94877647	94877647	+	Silent	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:94877647C>A	ENST00000262554.2	-	1	11	c.6G>T	c.(4-6)gcG>gcT	p.A2A	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Silent_p.A2A	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	2					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CCGTGGCGGTCGCCATAGTTA	0.667																																																	0													27.0	30.0	29.0					9																	94877647		2181	4267	6448	SO:0001819	synonymous_variant	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.6G>T	9.37:g.94877647C>A			A8K681|Q5VWB4|Q96IX6	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.A2	ENST00000262554.2	37	c.6	CCDS6692.1	9																																																																																			SPTLC1	-	NULL		0.667	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	C	NM_006415		94877647	-1	no_errors	ENST00000262554	ensembl	human	known	70_37	silent	SNP	0.992	A
SRRT	51593	genome.wustl.edu	37	7	100482406	100482407	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:100482406_100482407GG>TT	ENST00000347433.4	+	8	1146_1147	c.988_989GG>TT	c.(988-990)GGt>TTt	p.G330F	SRRT_ENST00000388793.4_Missense_Mutation_p.G330F|SRRT_ENST00000457580.2_Missense_Mutation_p.G330F|SRRT_ENST00000432932.1_Missense_Mutation_p.G330F			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	330	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAAGTCGGAGGGTGATGGGGAC	0.51																																																	0																																										SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	Exception_encountered	7.37:g.100482406_100482407delinsTT	ENSP00000314491:p.Gly330Phe		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.G330C|p.G330V	ENST00000347433.4	37	c.988|c.989	CCDS34709.1	7																																																																																			SRRT	-	NULL		0.510	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	G	NM_015908		100482406|100482407	+1	no_errors	ENST00000388793	ensembl	human	known	70_37	missense	SNP	1.000	T
ST7	7982	genome.wustl.edu	37	7	116861992	116861992	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:116861992C>G	ENST00000393446.2	+	13	1655	c.1352C>G	c.(1351-1353)tCa>tGa	p.S451*	ST7_ENST00000432298.1_Nonsense_Mutation_p.S459*|ST7_ENST00000393449.1_Nonsense_Mutation_p.S500*|ST7_ENST00000422922.1_Nonsense_Mutation_p.S436*|ST7_ENST00000393451.3_Nonsense_Mutation_p.S482*|ST7_ENST00000323984.3_Nonsense_Mutation_p.S505*|ST7_ENST00000393444.3_Nonsense_Mutation_p.S439*|ST7_ENST00000393443.1_Nonsense_Mutation_p.S427*|ST7_ENST00000393447.4_Nonsense_Mutation_p.S462*|ST7_ENST00000265437.5_Nonsense_Mutation_p.S505*			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CATGAAGTCTCAGTTTACCCA	0.483																																																	0													138.0	139.0	138.0					7																	116861992		2203	4300	6503	SO:0001587	stop_gained	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.1352C>G	7.37:g.116861992C>G	ENSP00000377092:p.Ser451*		A8K137|B4DRQ2	Nonsense_Mutation	SNP	pfam_ST7	p.S505*	ENST00000393446.2	37	c.1514		7	.	.	.	.	.	.	.	.	.	.	C	43	10.391332	0.99396	.	.	ENSG00000004866	ENST00000393446;ENST00000265437;ENST00000393451;ENST00000323984;ENST00000393449;ENST00000432298;ENST00000422922;ENST00000393443;ENST00000393447;ENST00000393444	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.9997	19.8046	0.96525	0.0:1.0:0.0:0.0	.	.	.	.	X	451;505;482;505;500;459;436;427;462;439	.	ENSP00000265437:S505X	S	+	2	0	ST7	116649228	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.748000	0.94277	0.655000	0.94253	TCA	ST7	-	pfam_ST7		0.483	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	ST7	HGNC	protein_coding	OTTHUMT00000319687.1	C	NM_021908		116861992	+1	no_errors	ENST00000265437	ensembl	human	known	70_37	nonsense	SNP	1.000	G
SYNCRIP	10492	genome.wustl.edu	37	6	86324748	86324748	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:86324748C>G	ENST00000369622.3	-	11	2098	c.1598G>C	c.(1597-1599)aGa>aCa	p.R533T	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.R533T|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.E69Q	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	533	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R533K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCGAACGCCTCTTGCTGATCC	0.627																																																	1	Substitution - Missense(1)	skin(1)											125.0	134.0	131.0					6																	86324748		2203	4300	6503	SO:0001583	missense	10492			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1598G>C	6.37:g.86324748C>G	ENSP00000358635:p.Arg533Thr		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.R533T	ENST00000369622.3	37	c.1598	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412190	0.25465	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.30714	1.59;1.52	5.39	4.5	0.54988	.	0.109437	0.64402	D	0.000003	T	0.20455	0.0492	M	0.61703	1.905	0.58432	D	0.999994	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	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.08146	-1.0736	10	0.66056	D	0.02	.	15.8829	0.79216	0.0:0.8641:0.1359:0.0	.	533;498;435;381;498;533;533	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	T	533	ENSP00000347380:R533T;ENSP00000358635:R533T	ENSP00000347380:R533T	R	-	2	0	SYNCRIP	86381467	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.486000	0.81215	1.226000	0.43582	0.563000	0.77884	AGA	SYNCRIP	-	tigrfam_HnRNP_R/Q_splicing_fac		0.627	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	C	NM_006372		86324748	-1	no_errors	ENST00000369622	ensembl	human	known	70_37	missense	SNP	1.000	G
SYTL2	54843	genome.wustl.edu	37	11	85438850	85438850	+	Intron	SNP	A	A	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:85438850A>G	ENST00000528231.1	-	7	1737				SYTL2_ENST00000359152.5_Silent_p.D74D|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_5'UTR|SYTL2_ENST00000354566.3_5'Flank	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAAATATGGAATCATCAGTTG	0.423																																																	0																																										SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+88T>C	11.37:g.85438850A>G			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.D74	ENST00000528231.1	37	c.222	CCDS53688.1	11																																																																																			SYTL2	-	NULL		0.423	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	A	NM_206927		85438850	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	silent	SNP	0.997	G
SZT2	23334	genome.wustl.edu	37	1	43898052	43898052	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:43898052C>G	ENST00000562955.1	+	36	5213	c.5213C>G	c.(5212-5214)tCt>tGt	p.S1738C	SZT2_ENST00000372442.1_Missense_Mutation_p.S896C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1795					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						GGGGAGCCTTCTTCAGCGGCC	0.612																																																	0													99.0	111.0	107.0					1																	43898052		2203	4300	6503	SO:0001583	missense	23334			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.5213C>G	1.37:g.43898052C>G	ENSP00000457168:p.Ser1738Cys		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.S1738C	ENST00000562955.1	37	c.5213	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.485859	0.26686	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.47	4.56	0.56223	.	0.541895	0.18561	N	0.137607	T	0.34658	0.0905	N	0.22421	0.69	0.09310	N	1	B	0.24963	0.115	B	0.36378	0.223	T	0.37663	-0.9696	9	0.56958	D	0.05	.	10.5328	0.44986	0.0:0.9103:0.0:0.0897	.	1738	Q5T011-5	.	C	896	.	ENSP00000361519:S896C	S	+	2	0	SZT2	43670639	0.131000	0.22433	0.055000	0.19348	0.546000	0.35178	1.511000	0.35801	1.456000	0.47831	0.655000	0.94253	TCT	SZT2	-	NULL		0.612	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	C	NM_015284		43898052	+1	no_errors	ENST00000562955	ensembl	human	known	70_37	missense	SNP	0.205	G
TAF1L	138474	genome.wustl.edu	37	9	32633525	32633525	+	Missense_Mutation	SNP	G	G	C	rs147409173		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:32633525G>C	ENST00000242310.4	-	1	2142	c.2053C>G	c.(2053-2055)Cgc>Ggc	p.R685G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	685					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R685C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAGGTGTGCGCATAAAAAAC	0.448																																																	1	Substitution - Missense(1)	lung(1)											180.0	164.0	169.0					9																	32633525		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2053C>G	9.37:g.32633525G>C	ENSP00000418379:p.Arg685Gly		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R685G	ENST00000242310.4	37	c.2053	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	18.42	3.621018	0.66787	.	.	ENSG00000122728	ENST00000242310	T	0.10005	2.92	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	M	0.83603	2.65	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.03706	-1.1011	10	0.72032	D	0.01	.	7.0483	0.25059	1.0E-4:0.0:0.9999:0.0	.	685	Q8IZX4	TAF1L_HUMAN	G	685	ENSP00000418379:R685G	ENSP00000418379:R685G	R	-	1	0	TAF1L	32623525	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	3.377000	0.52425	0.632000	0.30432	0.195000	0.17529	CGC	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	G			32633525	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	C
TARBP1	6894	genome.wustl.edu	37	1	234565905	234565905	+	Missense_Mutation	SNP	T	T	A	rs141150345		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:234565905T>A	ENST00000040877.1	-	15	2536	c.2537A>T	c.(2536-2538)cAg>cTg	p.Q846L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	846					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)			CTGATTGAGCTGAAGAGAGGA	0.562																																																	0													145.0	152.0	150.0					1																	234565905		2203	4300	6503	SO:0001583	missense	6894				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.2537A>T	1.37:g.234565905T>A	ENSP00000040877:p.Gln846Leu		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.Q846L	ENST00000040877.1	37	c.2537	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.214845	0.39102	.	.	ENSG00000059588	ENST00000040877	T	0.06449	3.3	5.35	-2.98	0.05513	.	0.674286	0.15861	N	0.241012	T	0.06234	0.0161	L	0.46157	1.445	0.09310	N	1	P	0.34462	0.454	B	0.26614	0.071	T	0.07770	-1.0755	10	0.27082	T	0.32	-4.8477	18.459	0.90731	0.0:0.0:0.144:0.856	.	846	Q13395	TARB1_HUMAN	L	846	ENSP00000040877:Q846L	ENSP00000040877:Q846L	Q	-	2	0	TARBP1	232632528	0.753000	0.28349	0.000000	0.03702	0.864000	0.49448	0.192000	0.17096	-0.703000	0.05049	-0.321000	0.08615	CAG	TARBP1	-	NULL		0.562	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	T	NM_005646		234565905	-1	no_errors	ENST00000040877	ensembl	human	known	70_37	missense	SNP	0.001	A
TAS2R13	50838	genome.wustl.edu	37	12	11061753	11061753	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:11061753T>G	ENST00000390677.2	-	1	408	c.145A>C	c.(145-147)Att>Ctt	p.I49L	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	49					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCCAAGATAATGAGGAGTTTA	0.383																																																	0													69.0	65.0	66.0					12																	11061753		2203	4300	6503	SO:0001583	missense	50838			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.145A>C	12.37:g.11061753T>G	ENSP00000375095:p.Ile49Leu		Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.I49L	ENST00000390677.2	37	c.145	CCDS8635.1	12	.	.	.	.	.	.	.	.	.	.	T	3.717	-0.058366	0.07317	.	.	ENSG00000212128	ENST00000390677	T	0.00717	5.79	3.3	2.13	0.27403	.	1.109960	0.07205	N	0.858221	T	0.00695	0.0023	N	0.17278	0.47	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.47711	-0.9096	10	0.42905	T	0.14	.	5.275	0.15645	0.0:0.1381:0.0:0.8619	.	49	Q9NYV9	T2R13_HUMAN	L	49	ENSP00000375095:I49L	ENSP00000375095:I49L	I	-	1	0	TAS2R13	10953020	0.016000	0.18221	0.392000	0.26245	0.001000	0.01503	0.496000	0.22499	0.449000	0.26747	-0.256000	0.11100	ATT	TAS2R13	-	pfam_TAS2_rcpt		0.383	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R13	HGNC	protein_coding	OTTHUMT00000400229.1	T			11061753	-1	no_errors	ENST00000390677	ensembl	human	known	70_37	missense	SNP	0.533	G
TBC1D3P2	440452	genome.wustl.edu	37	17	60344530	60344530	+	RNA	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:60344530G>A	ENST00000581291.1	-	0	974									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TTATCGGCATGAACGCCTGTT	0.602																																																	0																																												440452					17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60344530G>A				RNA	SNP	-	NULL	ENST00000581291.1	37	NULL		17																																																																																			TBC1D3P2	-	-		0.602	TBC1D3P2-002	KNOWN	basic	processed_transcript	TBC1D3P2	HGNC	pseudogene	OTTHUMT00000445021.1	G	NR_027486		60344530	-1	no_errors	ENST00000339120	ensembl	human	known	70_37	rna	SNP	0.973	A
TBCE	6905	genome.wustl.edu	37	1	235530759	235530759	+	5'UTR	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:235530759C>T	ENST00000366601.3	+	0	85				TBCE_ENST00000543662.1_5'UTR|TBCE_ENST00000406207.1_5'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E						'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CCTCAAGCTTCGCTGCTGGGC	0.612																																																	0																																										SO:0001623	5_prime_UTR_variant	6905			U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.-92C>T	1.37:g.235530759C>T			A8K8C2|B7Z3P1	RNA	SNP	-	NULL	ENST00000366601.3	37	NULL	CCDS1605.1	1																																																																																			TBCE	-	-		0.612	TBCE-001	KNOWN	basic|CCDS	protein_coding	TBCE	HGNC	protein_coding	OTTHUMT00000096458.3	C	NM_003193		235530759	+1	no_errors	ENST00000482230	ensembl	human	known	70_37	rna	SNP	0.000	T
TCAM1P	146771	genome.wustl.edu	37	17	61937541	61937541	+	RNA	SNP	A	A	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:61937541A>T	ENST00000478379.1	+	0	1037					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		CCTTTTTCATACGGGTTCTCT	0.478																																																	0																																												146771			AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61937541A>T				RNA	SNP	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			TCAM1P	-	-		0.478	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	HGNC	pseudogene	OTTHUMT00000335083.1	A			61937541	+1	no_errors	ENST00000478379	ensembl	human	known	70_37	rna	SNP	0.000	T
TFAP2A	7020	genome.wustl.edu	37	6	10402730	10402730	+	Missense_Mutation	SNP	A	A	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:10402730A>C	ENST00000482890.1	-	6	1230	c.878T>G	c.(877-879)gTa>gGa	p.V293G	TFAP2A_ENST00000379608.3_Missense_Mutation_p.V287G|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000319516.4_Missense_Mutation_p.V289G|TFAP2A_ENST00000379604.2_Missense_Mutation_p.V293G|TFAP2A_ENST00000379613.3_Missense_Mutation_p.V295G			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	293	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|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)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|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 (GO:0000982)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CTTACCCTCTACTAGTGATGT	0.408																																																	0													160.0	137.0	145.0					6																	10402730		2203	4300	6503	SO:0001583	missense	7020			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.878T>G	6.37:g.10402730A>C	ENSP00000418541:p.Val293Gly		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.V293G	ENST00000482890.1	37	c.878	CCDS4510.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	22.9|22.9|22.9	4.347538|4.347538|4.347538	0.82022|0.82022|0.82022	.|.|.	.|.|.	ENSG00000137203|ENSG00000137203|ENSG00000137203	ENST00000461628|ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073|ENST00000475264	.|D;D;D;D;D;D|.	.|0.98192|.	.|-4.78;-4.78;-4.78;-4.78;-4.78;-4.78|.	5.91|5.91|5.91	5.91|5.91|5.91	0.95273|0.95273|0.95273	.|Transcription factor AP-2, C-terminal (2);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|.	0.84129|0.84129|.	0.5404|0.5404|.	M|M|M	0.93462|0.93462|0.93462	3.42|3.42|3.42	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D|.	.|0.89917|.	.|0.994;0.993;0.994;1.0;1.0|.	.|D;D;D;D;D|.	.|0.97110|.	.|0.991;0.996;0.991;0.998;1.0|.	D|D|.	0.88540|0.88540|.	0.3109|0.3109|.	5|10|.	.|0.87932|.	.|D|.	.|0|.	-7.4962|-7.4962|-7.4962	16.3483|16.3483|16.3483	0.83171|0.83171|0.83171	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|293;295;289;293;287|.	.|C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6|.	.|.;.;.;AP2A_HUMAN;.|.	R|G|E	67|295;293;289;287;293;293|198	.|ENSP00000368933:V295G;ENSP00000368924:V293G;ENSP00000316516:V289G;ENSP00000368928:V287G;ENSP00000418541:V293G;ENSP00000417495:V293G|.	.|ENSP00000316516:V289G|.	S|V|X	-|-|-	3|2|1	2|0|0	TFAP2A|TFAP2A|TFAP2A	10510716|10510716|10510716	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	9.339000|9.339000|9.339000	0.96797|0.96797|0.96797	2.254000|2.254000|2.254000	0.74563|0.74563|0.74563	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AGT|GTA|TAG	TFAP2A	-	pfam_TF_AP2_C,prints_TF_AP2_C		0.408	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	A	NM_003220		10402730	-1	no_errors	ENST00000379604	ensembl	human	known	70_37	missense	SNP	1.000	C
THSD7B	80731	genome.wustl.edu	37	2	137988727	137988727	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:137988727T>C	ENST00000409968.1	+	8	2015	c.1837T>C	c.(1837-1839)Tgt>Cgt	p.C613R	THSD7B_ENST00000413152.2_Missense_Mutation_p.C582R|THSD7B_ENST00000272643.3_Missense_Mutation_p.C613R|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	613	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGTCATCCTGTTCCCAGTC	0.512																																																	0													69.0	70.0	70.0					2																	137988727		1966	4149	6115	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1837T>C	2.37:g.137988727T>C	ENSP00000387145:p.Cys613Arg			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.C613R	ENST00000409968.1	37	c.1837		2	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505542	0.85282	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	D;D;D	0.98585	-5.01;-5.01;-5.01	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	H	0.99600	4.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.97849	1.0273	10	0.72032	D	0.01	.	16.3109	0.82869	0.0:0.0:0.0:1.0	.	613;582	Q9C0I4;C9JKN6	THS7B_HUMAN;.	R	613;613;582	ENSP00000387145:C613R;ENSP00000272643:C613R;ENSP00000413841:C582R	ENSP00000272643:C613R	C	+	1	0	THSD7B	137705197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.257000	0.74773	0.460000	0.39030	TGT	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	T	XM_046570.9		137988727	+1	no_errors	ENST00000272643	ensembl	human	known	70_37	missense	SNP	1.000	C
TIPIN	54962	genome.wustl.edu	37	15	66672274	66672274	+	5'UTR	SNP	A	A	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr15:66672274A>T	ENST00000561773.1	-	0	62							Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein						cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CACACGGCAAAGGACCTGGAA	0.373																																																	0																																										SO:0001623	5_prime_UTR_variant	54962			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000561773.1:c.-667T>A	15.37:g.66672274A>T			B2CW64|Q9NWZ6	RNA	SNP	-	NULL	ENST00000561773.1	37	NULL		15																																																																																			TIPIN	-	-		0.373	TIPIN-006	KNOWN	mRNA_end_NF|basic	processed_transcript	TIPIN	HGNC	protein_coding	OTTHUMT00000420721.1	A	NM_017858		66672274	-1	no_errors	ENST00000561773	ensembl	human	known	70_37	rna	SNP	0.046	T
TMEM163	81615	genome.wustl.edu	37	2	135214288	135214288	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:135214288C>T	ENST00000281924.6	-	8	933	c.869G>A	c.(868-870)tGa>tAa	p.*290*		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	0						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		TGGCCCCCTTCACTCAAACAT	0.502																																																	0													104.0	79.0	88.0					2																	135214288		2203	4300	6503	SO:0001819	synonymous_variant	81615				CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.869G>A	2.37:g.135214288C>T			Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Silent	SNP	NULL	p.*290	ENST00000281924.6	37	c.869	CCDS2172.1	2																																																																																			TMEM163	-	NULL		0.502	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM163	HGNC	protein_coding	OTTHUMT00000254631.2	C	NM_030923		135214288	-1	no_errors	ENST00000281924	ensembl	human	known	70_37	silent	SNP	1.000	T
TMEM74B	55321	genome.wustl.edu	37	20	1162032	1162032	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:1162032C>T	ENST00000381894.3	-	2	902	c.231G>A	c.(229-231)ggG>ggA	p.G77G	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	77						integral component of membrane (GO:0016021)											GTCTCGTGTTCCCAGGGTTCT	0.632																																																	0													38.0	44.0	42.0					20																	1162032		2203	4300	6503	SO:0001819	synonymous_variant	55321			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.231G>A	20.37:g.1162032C>T			D3DVW5	Silent	SNP	NULL	p.G77	ENST00000381894.3	37	c.231	CCDS13011.1	20																																																																																			TMEM74B	-	NULL		0.632	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74B	HGNC	protein_coding	OTTHUMT00000077496.2	C	NM_018354		1162032	-1	no_errors	ENST00000381894	ensembl	human	known	70_37	silent	SNP	0.000	T
TNKS1BP1	85456	genome.wustl.edu	37	11	57070031	57070031	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:57070031C>A	ENST00000532437.1	-	6	4896	c.4585G>T	c.(4585-4587)Gca>Tca	p.A1529S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1529S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1529	Acidic.|Tankyrase-binding.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CACCTGGCTGCTGAAGAGCCC	0.647																																																	0													31.0	33.0	33.0					11																	57070031		2201	4296	6497	SO:0001583	missense	85456			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.4585G>T	11.37:g.57070031C>A	ENSP00000437271:p.Ala1529Ser		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.A1529S	ENST00000532437.1	37	c.4585	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545618	0.27652	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.31247	1.5;1.5	4.68	1.55	0.23275	.	0.800606	0.11051	N	0.605079	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.17930	-1.0353	10	0.38643	T	0.18	-9.2309	3.8773	0.09062	0.0:0.5763:0.203:0.2207	.	1529;110	Q9C0C2;Q86TK2	TB182_HUMAN;.	S	1529	ENSP00000350990:A1529S;ENSP00000437271:A1529S	ENSP00000350990:A1529S	A	-	1	0	TNKS1BP1	56826607	0.010000	0.17322	0.005000	0.12908	0.006000	0.05464	1.803000	0.38863	1.097000	0.41459	0.561000	0.74099	GCA	TNKS1BP1	-	NULL		0.647	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	C	NM_033396		57070031	-1	no_errors	ENST00000358252	ensembl	human	known	70_37	missense	SNP	0.000	A
TNKS1BP1	85456	genome.wustl.edu	37	11	57075888	57075888	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:57075888C>A	ENST00000532437.1	-	5	4608	c.4297G>T	c.(4297-4299)Gcc>Tcc	p.A1433S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1433S|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1433	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)				AAGCTGAGGGCTTCTCCTGTC	0.567																																																	0													258.0	261.0	260.0					11																	57075888		2201	4296	6497	SO:0001583	missense	85456			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.4297G>T	11.37:g.57075888C>A	ENSP00000437271:p.Ala1433Ser		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.A1433S	ENST00000532437.1	37	c.4297	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	C	8.614	0.889735	0.17540	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34072	1.38;1.38	4.63	-2.89	0.05665	.	0.882556	0.09461	N	0.798978	T	0.12902	0.0313	N	0.05510	-0.035	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.33420	-0.9869	10	0.08179	T	0.78	-0.136	3.7409	0.08530	0.5583:0.2219:0.129:0.0907	.	1433	Q9C0C2	TB182_HUMAN	S	1433	ENSP00000350990:A1433S;ENSP00000437271:A1433S	ENSP00000350990:A1433S	A	-	1	0	TNKS1BP1	56832464	0.000000	0.05858	0.005000	0.12908	0.097000	0.18754	-0.605000	0.05661	-0.126000	0.11682	0.561000	0.74099	GCC	TNKS1BP1	-	NULL		0.567	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	C	NM_033396		57075888	-1	no_errors	ENST00000358252	ensembl	human	known	70_37	missense	SNP	0.001	A
TNRC6C	57690	genome.wustl.edu	37	17	76046332	76046332	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:76046332G>A	ENST00000588061.1	+	5	1916	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	TNRC6C_ENST00000588847.1_Missense_Mutation_p.E397K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.E397K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.E397K|TNRC6C_ENST00000335749.4_Missense_Mutation_p.E397K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.E397K			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	397	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)	p.E397K(2)		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)			TACAGCAAGTGAAGGAAGTAG	0.532																																																	2	Substitution - Missense(2)	kidney(2)											68.0	69.0	68.0					17																	76046332		1981	4179	6160	SO:0001583	missense	57690			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.1189G>A	17.37:g.76046332G>A	ENSP00000468647:p.Glu397Lys		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.E397K	ENST00000588061.1	37	c.1189	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192819	0.58017	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.3	5.3	0.74995	.	0.250251	0.34156	N	0.004214	T	0.28699	0.0711	M	0.65498	2.005	0.58432	D	0.999999	P;P;P	0.44429	0.763;0.835;0.682	B;P;B	0.48334	0.163;0.574;0.141	T	0.02371	-1.1169	10	0.13108	T	0.6	-4.9224	19.1532	0.93499	0.0:0.0:1.0:0.0	.	397;397;397	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	K	397	ENSP00000336783:E397K;ENSP00000301624:E397K;ENSP00000440310:E397K;ENSP00000442421:E397K	ENSP00000301624:E397K	E	+	1	0	TNRC6C	73557927	1.000000	0.71417	0.806000	0.32338	0.972000	0.66771	9.181000	0.94874	2.769000	0.95229	0.655000	0.94253	GAA	TNRC6C	-	NULL		0.532	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	G	NM_018996		76046332	+1	no_errors	ENST00000335749	ensembl	human	known	70_37	missense	SNP	1.000	A
TOMM40	10452	genome.wustl.edu	37	19	45395670	45395670	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:45395670G>C	ENST00000426677.2	+	2	475	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000252487.5_Missense_Mutation_p.E99Q|TOMM40_ENST00000405636.2_Missense_Mutation_p.E99Q|TOMM40_ENST00000592434.1_Missense_Mutation_p.E99Q	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	99					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CATTCAGATGGAGGGTGTCAA	0.552																																																	0													209.0	175.0	187.0					19																	45395670		2203	4300	6503	SO:0001583	missense	10452			AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.295G>C	19.37:g.45395670G>C	ENSP00000410339:p.Glu99Gln		Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Missense_Mutation	SNP	pfam_Porin_Euk	p.E99Q	ENST00000426677.2	37	c.295	CCDS12646.1	19	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717827	0.89205	.	.	ENSG00000130204	ENST00000426677;ENST00000405636;ENST00000252487	T;T;T	0.48522	0.81;0.81;0.81	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	M	0.92219	3.285	0.80722	D	1	D;D	0.64830	0.994;0.99	P;D	0.65987	0.869;0.94	T	0.81534	-0.0889	10	0.72032	D	0.01	-17.4699	14.7003	0.69152	0.0:0.0:1.0:0.0	.	99;99	O96008-2;O96008	.;TOM40_HUMAN	Q	99	ENSP00000410339:E99Q;ENSP00000385184:E99Q;ENSP00000252487:E99Q	ENSP00000252487:E99Q	E	+	1	0	TOMM40	50087510	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.243000	0.95416	2.116000	0.64780	0.455000	0.32223	GAG	TOMM40	-	pfam_Porin_Euk		0.552	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOMM40	HGNC	protein_coding	OTTHUMT00000453241.1	G			45395670	+1	no_errors	ENST00000252487	ensembl	human	known	70_37	missense	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr17:7578534C>G	ENST00000269305.4	-	5	585	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAAAACATCTTGTTGAGGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)											47.0	48.0	48.0					17																	7578534		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.396G>C	17.37:g.7578534C>G	ENSP00000269305:p.Lys132Asn		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.K132N	ENST00000269305.4	37	c.396	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123172	0.77436	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7578534	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	1.000	G
TRAPPC8	22878	genome.wustl.edu	37	18	29446845	29446845	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:29446845C>G	ENST00000283351.4	-	18	2892	c.2557G>C	c.(2557-2559)Gat>Cat	p.D853H	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D799H	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	853					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAATGCCATCTACTGTCATA	0.418																																																	0													152.0	146.0	148.0					18																	29446845		2203	4300	6503	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2557G>C	18.37:g.29446845C>G	ENSP00000283351:p.Asp853His		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	NULL	p.D853H	ENST00000283351.4	37	c.2557	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257966	0.39896	.	.	ENSG00000153339	ENST00000283351	T	0.09073	3.02	5.65	5.65	0.86999	.	0.477684	0.24823	N	0.035319	T	0.20700	0.0498	M	0.74258	2.255	0.80722	D	1	D	0.59357	0.985	P	0.48454	0.578	T	0.00505	-1.1700	10	0.48119	T	0.1	.	19.7321	0.96186	0.0:1.0:0.0:0.0	.	853	Q9Y2L5	TPPC8_HUMAN	H	853	ENSP00000283351:D853H	ENSP00000283351:D853H	D	-	1	0	TRAPPC8	27700843	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.557000	0.67313	2.680000	0.91292	0.467000	0.42956	GAT	TRAPPC8	-	NULL		0.418	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	C	NM_014939		29446845	-1	no_errors	ENST00000283351	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIM17	51127	genome.wustl.edu	37	1	228601524	228601524	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:228601524C>T	ENST00000366697.2	-	2	1455	c.499G>A	c.(499-501)Gag>Aag	p.E167K	TRIM17_ENST00000456946.2_Missense_Mutation_p.E167K|TRIM17_ENST00000295033.3_Missense_Mutation_p.E167K|TRIM17_ENST00000366698.2_Missense_Mutation_p.E167K			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	167					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CTCTGCTCCTCCCTGGCCTGC	0.592																																																	0													139.0	104.0	116.0					1																	228601524		2203	4300	6503	SO:0001583	missense	51127			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.499G>A	1.37:g.228601524C>T	ENSP00000355658:p.Glu167Lys		B4DVJ2|Q5VST8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,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.E167K	ENST00000366697.2	37	c.499	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971874	0.53614	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800;ENST00000355586	T;T;T;T;T;T	0.18810	3.08;3.08;3.08;3.08;3.08;2.19	3.5	3.5	0.40072	.	0.000000	0.38548	N	0.001646	T	0.41305	0.1153	M	0.81497	2.545	0.30646	N	0.755915	D;D	0.76494	0.971;0.999	P;D	0.80764	0.882;0.994	T	0.35699	-0.9778	10	0.12103	T	0.63	.	10.8288	0.46649	0.0:1.0:0.0:0.0	.	167;167	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	K	167;167;167;167;140;167	ENSP00000355658:E167K;ENSP00000355659:E167K;ENSP00000295033:E167K;ENSP00000403312:E167K;ENSP00000430468:E140K;ENSP00000347794:E167K	ENSP00000295033:E167K	E	-	1	0	TRIM17	226668147	0.676000	0.27567	0.955000	0.39395	0.295000	0.27426	1.667000	0.37471	2.260000	0.74910	0.561000	0.74099	GAG	TRIM17	-	NULL		0.592	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	C	NM_016102		228601524	-1	no_errors	ENST00000295033	ensembl	human	known	70_37	missense	SNP	0.972	T
TRIM51	84767	genome.wustl.edu	37	11	55658629	55658629	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:55658629G>A	ENST00000449290.2	+	7	972	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	TRIM51_ENST00000244891.3_Missense_Mutation_p.E151K	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	294	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TCTGCAGCCTGAAAGAGCCAA	0.338																																																	0													56.0	61.0	59.0					11																	55658629		2044	3892	5936	SO:0001583	missense	84767			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.880G>A	11.37:g.55658629G>A	ENSP00000395086:p.Glu294Lys		A6NMG2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E294K	ENST00000449290.2	37	c.880		11	.	.	.	.	.	.	.	.	.	.	.	13.11	2.139363	0.37728	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.11604	2.76;2.76	0.892	0.892	0.19230	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.10551	0.0258	L	0.58428	1.81	0.25242	N	0.989741	B	0.30542	0.284	B	0.29176	0.099	T	0.25502	-1.0130	9	0.41790	T	0.15	.	5.4053	0.16318	0.0:0.0:1.0:0.0	.	294	Q9BSJ1	SPRY5_HUMAN	K	294;151	ENSP00000395086:E294K;ENSP00000244891:E151K	ENSP00000244891:E151K	E	+	1	0	SPRYD5	55415205	0.998000	0.40836	0.366000	0.25914	0.404000	0.30871	1.256000	0.32921	0.159000	0.19401	0.162000	0.16502	GAA	TRIM51	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin		0.338	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	TRIM51	HGNC	protein_coding	OTTHUMT00000391522.1	G	NM_032681		55658629	+1	no_errors	ENST00000449290	ensembl	human	known	70_37	missense	SNP	1.000	A
TRIM55	84675	genome.wustl.edu	37	8	67064640	67064640	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr8:67064640C>T	ENST00000315962.4	+	8	1387	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	TRIM55_ENST00000353317.5_Silent_p.G338G|TRIM55_ENST00000276573.7_Silent_p.G338G|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	338					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)			aagaagaaggcggagaaggag	0.418																																																	0													30.0	28.0	29.0					8																	67064640		2203	4300	6503	SO:0001819	synonymous_variant	84675			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.1014C>T	8.37:g.67064640C>T			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.G338	ENST00000315962.4	37	c.1014	CCDS6184.1	8																																																																																			TRIM55	-	NULL		0.418	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1	C	NM_184085		67064640	+1	no_errors	ENST00000315962	ensembl	human	known	70_37	silent	SNP	0.085	T
TRPM2	7226	genome.wustl.edu	37	21	45789054	45789054	+	Intron	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr21:45789054C>A	ENST00000397928.1	+	5	1049				TRPM2_ENST00000300482.5_Intron|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Intron|TRPM2_ENST00000300481.9_Intron	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGTGCTCCTTCCCCAGGGGCC	0.672																																																	0													17.0	18.0	18.0					21																	45789054		2201	4298	6499	SO:0001627	intron_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.605-6C>A	21.37:g.45789054C>A			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	RNA	SNP	-	NULL	ENST00000397928.1	37	NULL	CCDS13710.1	21																																																																																			TRPM2	-	-		0.672	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	C	NM_003307		45789054	+1	no_errors	ENST00000498430	ensembl	human	putative	70_37	rna	SNP	0.007	A
TTC21A	199223	genome.wustl.edu	37	3	39154048	39154048	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:39154048G>C	ENST00000431162.2	+	5	669	c.535G>C	c.(535-537)Gat>Cat	p.D179H	TTC21A_ENST00000301819.6_Missense_Mutation_p.D179H|TTC21A_ENST00000440121.1_Intron			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	179										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGACACCAAAGATGTGCTGGG	0.572																																																	0													66.0	72.0	70.0					3																	39154048		1988	4178	6166	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.535G>C	3.37:g.39154048G>C	ENSP00000398211:p.Asp179His		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D179H	ENST00000431162.2	37	c.535	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861272	0.71949	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162	T;T	0.64991	-0.13;-0.13	5.74	5.74	0.90152	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.070871	0.53938	D	0.000041	T	0.78786	0.4338	M	0.70787	2.145	0.50171	D	0.999857	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.75659	-0.3241	10	0.34782	T	0.22	-19.5552	18.6994	0.91615	0.0:0.0:1.0:0.0	.	179;179;179	Q8NDW8-7;Q8NDW8;F5H6V8	.;TT21A_HUMAN;.	H	179	ENSP00000301819:D179H;ENSP00000398211:D179H	ENSP00000301819:D179H	D	+	1	0	TTC21A	39129052	1.000000	0.71417	0.945000	0.38365	0.986000	0.74619	4.239000	0.58694	2.715000	0.92844	0.655000	0.94253	GAT	TTC21A	-	NULL		0.572	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	G	NM_145755		39154048	+1	no_errors	ENST00000301819	ensembl	human	known	70_37	missense	SNP	0.988	C
TTLL11	158135	genome.wustl.edu	37	9	124736340	124736340	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:124736340T>A	ENST00000321582.5	-	6	1886	c.1699A>T	c.(1699-1701)Atc>Ttc	p.I567F	TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	0					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GTGTCTCTGATCACAGCCACT	0.448																																																	0													134.0	116.0	121.0					9																	124736340		692	1591	2283	SO:0001583	missense	158135			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000321582.5:c.1699A>T	9.37:g.124736340T>A	ENSP00000321346:p.Ile567Phe			Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.I567F	ENST00000321582.5	37	c.1699	CCDS48012.1	9	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633310	0.87660	.	.	ENSG00000175764	ENST00000321582;ENST00000373778	T	0.06528	3.29	5.7	5.7	0.88788	.	.	.	.	.	T	0.30978	0.0782	M	0.90542	3.125	0.53688	D	0.999971	D	0.76494	0.999	D	0.69479	0.964	T	0.21381	-1.0247	9	0.87932	D	0	.	14.7948	0.69870	0.0:0.0:0.0:1.0	.	567	F8W6M1	.	F	567;218	ENSP00000321346:I567F	ENSP00000321346:I567F	I	-	1	0	TTLL11	123776161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.268000	0.78473	2.167000	0.68274	0.528000	0.53228	ATC	TTLL11	-	NULL		0.448	TTLL11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL11	HGNC	protein_coding		T	XM_088486		124736340	-1	no_errors	ENST00000321582	ensembl	human	known	70_37	missense	SNP	1.000	A
UBXN2A	165324	genome.wustl.edu	37	2	24205898	24205898	+	Silent	SNP	A	A	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:24205898A>T	ENST00000309033.4	+	5	664	c.420A>T	c.(418-420)ctA>ctT	p.L140L	UBXN2A_ENST00000535786.1_Silent_p.L140L|UBXN2A_ENST00000404924.1_Silent_p.L140L|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	140					regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GTCACAGACTAGGAAGGTAAA	0.383																																																	0													87.0	89.0	88.0					2																	24205898		2203	4300	6503	SO:0001819	synonymous_variant	165324			BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.420A>T	2.37:g.24205898A>T			A8K577|B7ZKP8|Q569G8	Silent	SNP	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX	p.L140	ENST00000309033.4	37	c.420	CCDS1704.1	2																																																																																			UBXN2A	-	superfamily_SEP_domain,smart_SEP_domain		0.383	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN2A	HGNC	protein_coding	OTTHUMT00000246824.2	A	NM_181713		24205898	+1	no_errors	ENST00000309033	ensembl	human	known	70_37	silent	SNP	1.000	T
UNC80	285175	genome.wustl.edu	37	2	210843409	210843409	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:210843409G>T	ENST00000439458.1	+	58	8977	c.8897G>T	c.(8896-8898)cGg>cTg	p.R2966L	UNC80_ENST00000272845.6_Missense_Mutation_p.R2961L|UNC80_ENST00000539183.1_Missense_Mutation_p.R412L	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	2966					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						ACCCTGAGTCGGACTGATGAG	0.587																																																	0													68.0	64.0	65.0					2																	210843409		692	1591	2283	SO:0001583	missense	285175			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.8897G>T	2.37:g.210843409G>T	ENSP00000391088:p.Arg2966Leu		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.R2966L	ENST00000439458.1	37	c.8897	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827259	0.71143	.	.	ENSG00000144406	ENST00000439458;ENST00000272845;ENST00000333907;ENST00000539183	T;T	0.46063	0.88;0.89	5.54	4.65	0.58169	.	.	.	.	.	T	0.50854	0.1640	L	0.27053	0.805	0.42806	D	0.993941	D;P	0.67145	0.996;0.507	D;B	0.79108	0.992;0.186	T	0.48246	-0.9052	9	0.27785	T	0.31	.	16.6839	0.85300	0.0:0.1299:0.8701:0.0	.	2961;2966	C9J1U3;Q8N2C7	.;UNC80_HUMAN	L	2966;2961;492;412	ENSP00000391088:R2966L;ENSP00000272845:R2961L	ENSP00000272845:R2961L	R	+	2	0	UNC80	210551654	1.000000	0.71417	0.992000	0.48379	0.318000	0.28184	9.813000	0.99286	1.458000	0.47871	-0.175000	0.13238	CGG	UNC80	-	NULL		0.587	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		G	NM_182587		210843409	+1	no_errors	ENST00000439458	ensembl	human	known	70_37	missense	SNP	1.000	T
USP20	10868	genome.wustl.edu	37	9	132627642	132627642	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:132627642C>G	ENST00000315480.4	+	10	830	c.672C>G	c.(670-672)ttC>ttG	p.F224L	USP20_ENST00000372429.3_Missense_Mutation_p.F224L|USP20_ENST00000358355.1_Missense_Mutation_p.F224L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	224	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ACCCAATGTTCCGAGGCTATG	0.567																																																	0													99.0	99.0	99.0					9																	132627642		2063	4207	6270	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.672C>G	9.37:g.132627642C>G	ENSP00000313811:p.Phe224Leu		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.F224L	ENST00000315480.4	37	c.672	CCDS43892.1	9	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359554	0.82353	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.35236	1.32;1.32;1.32	5.67	3.83	0.44106	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	L	0.49571	1.57	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	T	0.51818	-0.8657	10	0.87932	D	0	.	11.6882	0.51499	0.0:0.8569:0.0:0.1431	.	224	Q9Y2K6	UBP20_HUMAN	L	224	ENSP00000361506:F224L;ENSP00000313811:F224L;ENSP00000351122:F224L	ENSP00000313811:F224L	F	+	3	2	USP20	131667463	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.560000	0.45896	0.750000	0.32877	-0.291000	0.09656	TTC	USP20	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.567	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	C			132627642	+1	no_errors	ENST00000315480	ensembl	human	known	70_37	missense	SNP	1.000	G
USP20	10868	genome.wustl.edu	37	9	132640638	132640638	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr9:132640638G>A	ENST00000315480.4	+	23	2589	c.2431G>A	c.(2431-2433)Gag>Aag	p.E811K	USP20_ENST00000372429.3_Missense_Mutation_p.E811K|USP20_ENST00000358355.1_Missense_Mutation_p.E811K			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	811	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTTCCAGGCCGAGGAGTCGCC	0.607																																																	0													28.0	31.0	30.0					9																	132640638		1994	4151	6145	SO:0001583	missense	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2431G>A	9.37:g.132640638G>A	ENSP00000313811:p.Glu811Lys		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.E811K	ENST00000315480.4	37	c.2431	CCDS43892.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.680121	0.96774	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.18338	2.22;2.22;2.22	5.25	5.25	0.73442	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.06215	-1.0839	10	0.46703	T	0.11	.	18.2063	0.89855	0.0:0.0:1.0:0.0	.	811	Q9Y2K6	UBP20_HUMAN	K	811	ENSP00000361506:E811K;ENSP00000313811:E811K;ENSP00000351122:E811K	ENSP00000313811:E811K	E	+	1	0	USP20	131680459	1.000000	0.71417	0.975000	0.42487	0.841000	0.47740	9.289000	0.96061	2.630000	0.89119	0.561000	0.74099	GAG	USP20	-	smart_Pept_C19_DUSP		0.607	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	G			132640638	+1	no_errors	ENST00000315480	ensembl	human	known	70_37	missense	SNP	1.000	A
USP9X	8239	genome.wustl.edu	37	X	41047349	41047350	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chrX:41047349_41047350insTT	ENST00000324545.8	+	25	4422_4423	c.3789_3790insTT	c.(3790-3792)atcfs	p.I1264fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.I1264fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1264					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAAATGAAGAAATCACTAAAAT	0.312																																					Ovarian(172;1807 2695 35459 49286)												0																																										SO:0001589	frameshift_variant	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	Exception_encountered	X.37:g.41047349_41047350insTT	ENSP00000316357:p.Ile1264fs		O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.I1263fs	ENST00000324545.8	37	c.3789_3790	CCDS43930.1	X																																																																																			USP9X	-	NULL		0.312	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	NM_004652		41047350	+1	no_errors	ENST00000324545	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:1.000	TT
USPL1	10208	genome.wustl.edu	37	13	31205523	31205523	+	Silent	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr13:31205523G>A	ENST00000255304.4	+	4	1122	c.780G>A	c.(778-780)tcG>tcA	p.S260S	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	260	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GACTGTGCTCGAAGGAGGAAT	0.408																																					Ovarian(60;318 1180 1554 28110 31601)												0													135.0	135.0	135.0					13																	31205523		2203	4300	6503	SO:0001819	synonymous_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.780G>A	13.37:g.31205523G>A			Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.S260	ENST00000255304.4	37	c.780	CCDS9336.1	13																																																																																			USPL1	-	pfscan_Peptidase_C19		0.408	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	G	NM_005800		31205523	+1	no_errors	ENST00000255304	ensembl	human	known	70_37	silent	SNP	0.000	A
USPL1	10208	genome.wustl.edu	37	13	31227300	31227300	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr13:31227300C>T	ENST00000255304.4	+	8	1596	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	418	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CTCCCATATTCATGTTGCACT	0.358																																					Ovarian(60;318 1180 1554 28110 31601)												0													194.0	193.0	193.0					13																	31227300		2203	4300	6503	SO:0001819	synonymous_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1254C>T	13.37:g.31227300C>T			Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.F418	ENST00000255304.4	37	c.1254	CCDS9336.1	13																																																																																			USPL1	-	pfscan_Peptidase_C19		0.358	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	C	NM_005800		31227300	+1	no_errors	ENST00000255304	ensembl	human	known	70_37	silent	SNP	0.998	T
UTRN	7402	genome.wustl.edu	37	6	145093095	145093095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:145093095C>T	ENST00000367545.3	+	58	8548	c.8548C>T	c.(8548-8550)Caa>Taa	p.Q2850*	UTRN_ENST00000367526.4_Nonsense_Mutation_p.Q405*	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2850	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CGAACTCTTTCAATCCCTTGG	0.269																																																	0													64.0	70.0	68.0					6																	145093095		2203	4300	6503	SO:0001587	stop_gained	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8548C>T	6.37:g.145093095C>T	ENSP00000356515:p.Gln2850*		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q2850*	ENST00000367545.3	37	c.8548	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	41	8.591796	0.98877	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	.	.	.	5.78	5.78	0.91487	.	0.000000	0.49305	D	0.000147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	.	.	.	X	2850;405	.	ENSP00000356496:Q405X	Q	+	1	0	UTRN	145134788	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.242000	0.78210	2.737000	0.93849	0.563000	0.77884	CAA	UTRN	-	pfam_EF-hand_dom_typ1,pirsf_Dystrophin/utrophin		0.269	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	C			145093095	+1	no_errors	ENST00000367545	ensembl	human	known	70_37	nonsense	SNP	1.000	T
VDAC1	7416	genome.wustl.edu	37	5	133326815	133326815	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr5:133326815C>G	ENST00000265333.3	-	4	392	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.E50Q|VDAC1_ENST00000395044.3_Missense_Mutation_p.E50Q	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	50					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	TTGGTGGTCTCAGTGTTGGCT	0.488																																					NSCLC(127;1776 1806 35523 41489 48154)												0													104.0	94.0	98.0					5																	133326815		2203	4300	6503	SO:0001583	missense	7416				CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.148G>C	5.37:g.133326815C>G	ENSP00000265333:p.Glu50Gln		B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	pfam_Porin_Euk,prints_Porin_Euk	p.E50Q	ENST00000265333.3	37	c.148	CCDS4168.1	5	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514260	0.85389	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	M	0.80422	2.495	0.80722	D	1	P	0.43578	0.811	P	0.46975	0.533	T	0.62845	-0.6768	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	50	P21796	VDAC1_HUMAN	Q	50	ENSP00000265333:E50Q;ENSP00000378484:E50Q;ENSP00000378487:E50Q;ENSP00000390129:E50Q	ENSP00000265333:E50Q	E	-	1	0	VDAC1	133354714	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	7.750000	0.85110	2.793000	0.96121	0.655000	0.94253	GAG	VDAC1	-	pfam_Porin_Euk		0.488	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	HGNC	protein_coding	OTTHUMT00000259208.1	C			133326815	-1	no_errors	ENST00000265333	ensembl	human	known	70_37	missense	SNP	1.000	G
VDR	7421	genome.wustl.edu	37	12	48251431	48251431	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr12:48251431C>T	ENST00000395324.2	-	5	586	c.318G>A	c.(316-318)atG>atA	p.M106I	VDR_ENST00000550325.1_Missense_Mutation_p.M156I|VDR_ENST00000549336.1_Missense_Mutation_p.M106I|VDR_ENST00000535672.1_Missense_Mutation_p.M74I|VDR_ENST00000229022.3_Missense_Mutation_p.M106I			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	106	Hinge.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCTTCAGGATCATCTCCCGCT	0.602																																																	0													145.0	107.0	120.0					12																	48251431		2203	4300	6503	SO:0001583	missense	7421			J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.318G>A	12.37:g.48251431C>T	ENSP00000378734:p.Met106Ile		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.M106I	ENST00000395324.2	37	c.318	CCDS8757.1	12	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628611	0.46944	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672;ENST00000546653;ENST00000550314	D;D;D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.23	4.44	4.44	0.53790	Nuclear hormone receptor, ligand-binding (1);	0.444204	0.25094	N	0.033189	D	0.92603	0.7650	L	0.41492	1.28	0.46725	D	0.999173	B;B;B	0.20459	0.005;0.005;0.045	B;B;B	0.23574	0.005;0.005;0.047	D	0.90135	0.4209	10	0.46703	T	0.11	.	14.9439	0.71014	0.0:1.0:0.0:0.0	.	74;106;156	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	I	106;106;106;156;74;106;106	ENSP00000378734:M106I;ENSP00000229022:M106I;ENSP00000449573:M106I;ENSP00000447173:M156I;ENSP00000442145:M74I;ENSP00000448659:M106I;ENSP00000449561:M106I	ENSP00000229022:M106I	M	-	3	0	VDR	46537698	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.056000	0.49923	2.461000	0.83175	0.491000	0.48974	ATG	VDR	-	NULL		0.602	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	VDR	HGNC	protein_coding	OTTHUMT00000406433.1	C			48251431	-1	no_errors	ENST00000229022	ensembl	human	known	70_37	missense	SNP	1.000	T
ATG7	10533	genome.wustl.edu	37	3	11600915	11600915	+	IGR	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:11600915C>T	ENST00000354449.3	+	0	4959				VGLL4_ENST00000451674.2_Silent_p.V84V|VGLL4_ENST00000413604.1_Silent_p.V105V|VGLL4_ENST00000424529.2_Silent_p.V80V|VGLL4_ENST00000273038.3_Silent_p.V164V|VGLL4_ENST00000404339.1_Silent_p.V169V|VGLL4_ENST00000430365.2_Silent_p.V170V	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CACAGGTGATCACGGAGGGCC	0.706																																																	0													21.0	21.0	21.0					3																	11600915		2178	4262	6440	SO:0001628	intergenic_variant	9686			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600915C>T			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	smart_TDU_repeat	p.V170	ENST00000354449.3	37	c.510	CCDS2605.1	3																																																																																			VGLL4	-	NULL		0.706	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL4	HGNC	protein_coding	OTTHUMT00000251951.3	C	NM_006395		11600915	-1	no_errors	ENST00000430365	ensembl	human	known	70_37	silent	SNP	0.997	T
VWA7	80737	genome.wustl.edu	37	6	31744617	31744617	+	Intron	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:31744617C>G	ENST00000375688.4	-	2	186				VWA7_ENST00000375686.3_Intron|VWA7_ENST00000447450.1_Intron|VWA7_ENST00000467576.1_Intron|Y_RNA_ENST00000364685.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7							extracellular region (GO:0005576)											AGCCGCGATTCCAGGGCAGGC	0.642																																																	0																																										SO:0001627	intron_variant	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.15-46G>C	6.37:g.31744617C>G			A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	RNA	SNP	-	NULL	ENST00000375688.4	37	NULL	CCDS4721.2	6																																																																																			VWA7	-	-		0.642	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	C	NM_025258		31744617	-1	no_errors	ENST00000497645	ensembl	human	putative	70_37	rna	SNP	0.000	G
WDFY3	23001	genome.wustl.edu	37	4	85888148	85888148	+	5'Flank	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr4:85888148C>T	ENST00000295888.4	-	0	0				WDFY3-AS2_ENST00000451762.1_RNA|WDFY3_ENST00000322366.6_5'Flank	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3						aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		acccctgcccctctccgcggc	0.627																																																	0																																										SO:0001631	upstream_gene_variant	404201			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424		4.37:g.85888148C>T	Exception_encountered		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	RNA	SNP	-	NULL	ENST00000295888.4	37	NULL	CCDS3609.1	4																																																																																			WDFY3-AS2	-	-		0.627	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3-AS2	HGNC	protein_coding	OTTHUMT00000252811.2	C	NM_014991		85888148	+1	no_errors	ENST00000318186	ensembl	human	known	70_37	rna	SNP	0.000	T
WIZ	58525	genome.wustl.edu	37	19	15550220	15550220	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:15550220C>T	ENST00000389282.4	-	3	1654	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	WIZ_ENST00000263381.7_Intron			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	481					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						AAGGACGGCTCAGCTTTGCCA	0.617																																																	0																																										SO:0001583	missense	58525			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.1441G>A	19.37:g.15550220C>T	ENSP00000373933:p.Glu481Lys		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E481K	ENST00000389282.4	37	c.1441		19	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213338	0.79352	.	.	ENSG00000011451	ENST00000389282	T	0.03181	4.02	5.13	4.09	0.47781	.	0.226336	0.29822	N	0.011105	T	0.04182	0.0116	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50083	-0.8869	7	0.09084	T	0.74	-16.2356	13.1721	0.59604	0.0:0.8399:0.1601:0.0	.	.	.	.	K	481	ENSP00000373933:E481K	ENSP00000373933:E481K	E	-	1	0	WIZ	15411220	0.855000	0.29742	0.997000	0.53966	0.978000	0.69477	1.498000	0.35660	1.388000	0.46506	0.591000	0.81541	GAG	WIZ	-	NULL		0.617	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		C	NM_021241		15550220	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	missense	SNP	0.864	T
WNT4	54361	genome.wustl.edu	37	1	22448032	22448032	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:22448032C>T	ENST00000290167.6	-	3	394	c.351G>A	c.(349-351)tcG>tcA	p.S117S	WNT4_ENST00000542383.1_Silent_p.S62S	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	117					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCACACCTGCCGAAGAGATGG	0.657																																																	0													50.0	50.0	50.0					1																	22448032		2203	4300	6503	SO:0001819	synonymous_variant	54361			AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.351G>A	1.37:g.22448032C>T			B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt4	p.S117	ENST00000290167.6	37	c.351	CCDS223.1	1																																																																																			WNT4	-	pfam_Wnt,smart_Wnt,prints_Wnt		0.657	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT4	HGNC	protein_coding	OTTHUMT00000008088.2	C			22448032	-1	no_errors	ENST00000290167	ensembl	human	known	70_37	silent	SNP	0.948	T
XCL2	6846	genome.wustl.edu	37	1	168511278	168511278	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:168511278G>T	ENST00000367819.2	-	2	161	c.129C>A	c.(127-129)agC>agA	p.S43R		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	43					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TCTTGATTCTGCTAACTGGCA	0.483																																																	0													142.0	119.0	126.0					1																	168511278		2203	4300	6503	SO:0001583	missense	6846			BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"""Endogenous ligands"""	10646	protein-coding gene	gene with protein product		604828	"""small inducible cytokine subfamily C, member 2"""	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.129C>A	1.37:g.168511278G>T	ENSP00000356793:p.Ser43Arg			Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1	p.S43R	ENST00000367819.2	37	c.129	CCDS1273.1	1	.	.	.	.	.	.	.	.	.	.	G	0.469	-0.885178	0.02511	.	.	ENSG00000143185	ENST00000367819	T	0.04119	3.7	2.49	-4.98	0.03019	Chemokine interleukin-8-like domain (3);	1.273740	0.05040	N	0.476182	T	0.00754	0.0025	N	0.16478	0.41	0.20489	N	0.9999	B	0.22604	0.072	B	0.26202	0.067	T	0.48151	-0.9060	9	0.16420	T	0.52	-3.1338	4.8055	0.13317	0.0:0.2951:0.3:0.4049	.	43	Q9UBD3	XCL2_HUMAN	R	43	ENSP00000356793:S43R	ENSP00000356793:S43R	S	-	3	2	XCL2	166777902	0.000000	0.05858	0.003000	0.11579	0.154000	0.21943	-1.925000	0.01564	-1.450000	0.01936	0.195000	0.17529	AGC	XCL2	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1		0.483	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCL2	HGNC	protein_coding	OTTHUMT00000083613.1	G	NM_003175		168511278	-1	no_errors	ENST00000367819	ensembl	human	known	70_37	missense	SNP	0.001	T
XIRP2	129446	genome.wustl.edu	37	2	168115064	168115064	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:168115064G>A	ENST00000409728.1	+	11	2196	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	XIRP2_ENST00000420519.1_Missense_Mutation_p.E703K|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.E670K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E448K|XIRP2_ENST00000409756.2_Missense_Mutation_p.E670K|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCAGAGTGCTGAAAAGGAGAA	0.363																																																	0													43.0	41.0	42.0					2																	168115064		1894	4111	6005	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2107G>A	2.37:g.168115064G>A	ENSP00000386619:p.Glu703Lys		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E703K	ENST00000409728.1	37	c.2107	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184995	0.78677	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.80909	-1.4;-1.4;-1.4;-1.4;-1.43	5.67	5.67	0.87782	.	.	.	.	.	T	0.73257	0.3564	.	.	.	0.80722	D	1	B;B	0.34329	0.277;0.449	B;B	0.35550	0.205;0.177	T	0.73148	-0.4074	8	0.51188	T	0.08	.	8.9794	0.35955	0.074:0.0:0.7776:0.1485	.	670;703	A4UGR9-4;A4UGR9-6	.;.	K	670;703;670;703;448	ENSP00000386454:E670K;ENSP00000386619:E703K;ENSP00000386724:E670K;ENSP00000415541:E703K;ENSP00000386981:E448K	ENSP00000386454:E670K	E	+	1	0	XIRP2	167823310	0.983000	0.35010	0.962000	0.40283	0.937000	0.57800	2.820000	0.48057	2.681000	0.91329	0.561000	0.74099	GAA	XIRP2	-	NULL		0.363	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	G	NM_152381		168115064	+1	no_errors	ENST00000420519	ensembl	human	known	70_37	missense	SNP	0.997	A
XIRP2	129446	genome.wustl.edu	37	2	168115687	168115687	+	Silent	SNP	A	A	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:168115687A>T	ENST00000409728.1	+	11	2819	c.2730A>T	c.(2728-2730)ggA>ggT	p.G910G	XIRP2_ENST00000420519.1_Silent_p.G910G|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Silent_p.G877G|XIRP2_ENST00000409605.1_Silent_p.G655G|XIRP2_ENST00000409756.2_Silent_p.G877G|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGGAATTTGGAAAGGATGTTA	0.353																																																	0													83.0	75.0	78.0					2																	168115687		1849	4087	5936	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2730A>T	2.37:g.168115687A>T			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G910	ENST00000409728.1	37	c.2730	CCDS56143.1	2																																																																																			XIRP2	-	NULL		0.353	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	A	NM_152381		168115687	+1	no_errors	ENST00000420519	ensembl	human	known	70_37	silent	SNP	0.004	T
ZBTB16	7704	genome.wustl.edu	37	11	113935017	113935017	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:113935017G>T	ENST00000335953.4	+	2	1375	c.995G>T	c.(994-996)gGc>gTc	p.G332V	ZBTB16_ENST00000392996.2_Missense_Mutation_p.G332V	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	332					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AAGCATCTGGGCATCTACTCC	0.662																																																	0													60.0	57.0	58.0					11																	113935017		2201	4296	6497	SO:0001583	missense	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.995G>T	11.37:g.113935017G>T	ENSP00000338157:p.Gly332Val		Q8TAL4	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.G332V	ENST00000335953.4	37	c.995	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470635	0.43942	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.12569	2.67;2.67	4.98	4.98	0.66077	.	0.118422	0.56097	D	0.000022	T	0.10165	0.0249	N	0.14661	0.345	0.80722	D	1	B;P	0.44877	0.437;0.845	B;B	0.38428	0.154;0.273	T	0.12760	-1.0535	10	0.54805	T	0.06	-16.0589	18.4293	0.90619	0.0:0.0:1.0:0.0	.	332;337	Q05516;Q59H43	ZBT16_HUMAN;.	V	332	ENSP00000338157:G332V;ENSP00000376721:G332V	ENSP00000338157:G332V	G	+	2	0	ZBTB16	113440227	1.000000	0.71417	0.976000	0.42696	0.980000	0.70556	5.816000	0.69222	2.582000	0.87167	0.563000	0.77884	GGC	ZBTB16	-	NULL		0.662	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	G	NM_006006		113935017	+1	no_errors	ENST00000335953	ensembl	human	known	70_37	missense	SNP	1.000	T
ZC3HAV1	56829	genome.wustl.edu	37	7	138745836	138745836	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr7:138745836C>T	ENST00000242351.5	-	9	2358	c.2042G>A	c.(2041-2043)aGa>aAa	p.R681K	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R803K|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R681K	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	681	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGTTGGTCTTCTGATGACATC	0.418																																																	0													277.0	229.0	245.0					7																	138745836		2203	4300	6503	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2042G>A	7.37:g.138745836C>T	ENSP00000242351:p.Arg681Lys		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R681K	ENST00000242351.5	37	c.2042	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853917	0.71719	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.64803	-0.12;-0.12;-0.12	3.75	3.75	0.43078	WWE domain (1);	0.000000	0.52532	D	0.000069	T	0.80618	0.4657	M	0.90145	3.09	0.40839	D	0.983652	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.987	D	0.83726	0.0195	10	0.56958	D	0.05	.	11.3854	0.49782	0.0:1.0:0.0:0.0	.	681;681	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	K	681;803;681;441	ENSP00000242351:R681K;ENSP00000418385:R803K;ENSP00000419855:R681K	ENSP00000242351:R681K	R	-	2	0	ZC3HAV1	138396376	0.960000	0.32886	0.848000	0.33437	0.781000	0.44180	2.906000	0.48735	2.373000	0.80994	0.655000	0.94253	AGA	ZC3HAV1	-	pfscan_WWE-dom		0.418	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	C	NM_020119		138745836	-1	no_errors	ENST00000242351	ensembl	human	known	70_37	missense	SNP	0.868	T
ZDBF2	57683	genome.wustl.edu	37	2	207170956	207170956	+	Silent	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr2:207170956C>T	ENST00000374423.3	+	5	2090	c.1704C>T	c.(1702-1704)acC>acT	p.T568T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	568							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGCTCATACCAGCTTGGTTG	0.443																																																	0													97.0	88.0	91.0					2																	207170956		1881	4120	6001	SO:0001819	synonymous_variant	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1704C>T	2.37:g.207170956C>T			Q6ZNP7|Q6ZSN8	Silent	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.T568	ENST00000374423.3	37	c.1704	CCDS46501.1	2																																																																																			ZDBF2	-	NULL		0.443	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	C	NM_020923		207170956	+1	no_errors	ENST00000374423	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF143	7702	genome.wustl.edu	37	11	9516301	9516301	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr11:9516301C>T	ENST00000396602.2	+	8	873	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	ZNF143_ENST00000396597.3_Missense_Mutation_p.H221Y|ZNF143_ENST00000396604.1_Missense_Mutation_p.H251Y|ZNF143_ENST00000530463.1_Missense_Mutation_p.H251Y|ZNF143_ENST00000299606.2_Missense_Mutation_p.H224Y	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	252					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TACAACAGCTCATCATCTCAA	0.323																																																	0													77.0	77.0	77.0					11																	9516301		2201	4294	6495	SO:0001583	missense	7702			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.754C>T	11.37:g.9516301C>T	ENSP00000379847:p.His252Tyr		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H252Y	ENST00000396602.2	37	c.754	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264245	0.59431	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.18718	0.0449	L	0.59436	1.845	0.80722	D	1	B;B;B	0.28291	0.206;0.131;0.131	B;B;B	0.28011	0.085;0.027;0.027	T	0.04885	-1.0920	10	0.19147	T	0.46	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	221;251;252	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	Y	251;252;251;221;224	ENSP00000379849:H251Y;ENSP00000379847:H252Y;ENSP00000432154:H251Y;ENSP00000379843:H221Y;ENSP00000299606:H224Y	ENSP00000299606:H224Y	H	+	1	0	ZNF143	9472877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.489000	0.81451	2.882000	0.98803	0.655000	0.94253	CAT	ZNF143	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.323	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	C	NM_003442		9516301	+1	no_errors	ENST00000396602	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF165	7718	genome.wustl.edu	37	6	28053437	28053437	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:28053437C>G	ENST00000377325.1	+	2	735	c.179C>G	c.(178-180)tCt>tGt	p.S60C		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	60					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACCAGGATTCTCCTGGACCT	0.537																																																	0													89.0	98.0	95.0					6																	28053437		2203	4300	6503	SO:0001583	missense	7718			U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.179C>G	6.37:g.28053437C>G	ENSP00000366542:p.Ser60Cys			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.S60C	ENST00000377325.1	37	c.179	CCDS4643.1	6	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082268	0.36758	.	.	ENSG00000197279	ENST00000377325	T	0.04603	3.59	3.72	2.79	0.32731	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.10294	0.0252	M	0.87180	2.865	0.09310	N	1	D	0.67145	0.996	P	0.59825	0.864	T	0.04664	-1.0935	9	0.87932	D	0	.	10.5647	0.45165	0.0:0.8017:0.1983:0.0	.	60	P49910	ZN165_HUMAN	C	60	ENSP00000366542:S60C	ENSP00000366542:S60C	S	+	2	0	ZNF165	28161416	0.000000	0.05858	0.042000	0.18584	0.555000	0.35460	0.297000	0.19101	0.792000	0.33850	0.655000	0.94253	TCT	ZNF165	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.537	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF165	HGNC	protein_coding	OTTHUMT00000040173.1	C	NM_003447		28053437	+1	no_errors	ENST00000377325	ensembl	human	known	70_37	missense	SNP	0.064	G
ZNF292	23036	genome.wustl.edu	37	6	87925755	87925755	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr6:87925755G>T	ENST00000369577.3	+	2	346	c.303G>T	c.(301-303)ttG>ttT	p.L101F	ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Missense_Mutation_p.L101F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	101						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGTAGCCTTGGTTCTGGAAC	0.388																																																	0													150.0	136.0	140.0					6																	87925755		1897	4121	6018	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.303G>T	6.37:g.87925755G>T	ENSP00000358590:p.Leu101Phe		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L101F	ENST00000369577.3	37	c.303	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160032	0.38119	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08546	3.08;3.09	5.12	5.12	0.69794	.	.	.	.	.	T	0.03871	0.0109	L	0.38175	1.15	0.37682	D	0.923531	B;B	0.23540	0.074;0.087	B;B	0.25759	0.03;0.063	T	0.28744	-1.0034	9	0.41790	T	0.15	.	13.4494	0.61161	0.0:0.0:0.8029:0.1971	.	101;101	O60281;Q6ZW83	ZN292_HUMAN;.	F	101	ENSP00000358590:L101F;ENSP00000342847:L101F	ENSP00000342847:L101F	L	+	3	2	ZNF292	87982474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.391000	0.44424	2.390000	0.81377	0.563000	0.77884	TTG	ZNF292	-	NULL		0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	G	NM_015021		87925755	+1	no_errors	ENST00000369577	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF358	140467	genome.wustl.edu	37	19	7585681	7585681	+	Missense_Mutation	SNP	C	C	A	rs558919190	byFrequency	TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:7585681C>A	ENST00000597229.1	+	2	1723	c.1553C>A	c.(1552-1554)cCa>cAa	p.P518Q	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.P518Q|MCOLN1_ENST00000264079.6_5'Flank	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	518					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						GTGCCCAGCCCAGACCCTGAT	0.652																																																	0													103.0	81.0	89.0					19																	7585681		2203	4300	6503	SO:0001583	missense	140467			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.1553C>A	19.37:g.7585681C>A	ENSP00000472305:p.Pro518Gln		Q9BTM7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P518Q	ENST00000597229.1	37	c.1553	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483916	0.26598	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.66099	-0.19	3.59	1.36	0.22044	.	.	.	.	.	T	0.46151	0.1378	N	0.19112	0.55	0.09310	N	1	P	0.41313	0.745	B	0.41988	0.372	T	0.36114	-0.9761	9	0.87932	D	0	.	6.1894	0.20516	0.1847:0.7091:0.0:0.1061	.	518	Q9NW07	ZN358_HUMAN	Q	518	ENSP00000377873:P518Q	ENSP00000354703:P518Q	P	+	2	0	ZNF358	7491681	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.128000	0.15810	0.475000	0.27415	-0.258000	0.10820	CCA	ZNF358	-	NULL		0.652	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	C			7585681	+1	no_errors	ENST00000394341	ensembl	human	known	70_37	missense	SNP	0.001	A
ZNF445	353274	genome.wustl.edu	37	3	44489008	44489008	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:44489008C>T	ENST00000396077.2	-	8	2502	c.2155G>A	c.(2155-2157)Gcc>Acc	p.A719T	ZNF445_ENST00000425708.2_Missense_Mutation_p.A719T	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	719					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GACCTATAGGCAAAGTCCTTC	0.448																																																	0													120.0	117.0	118.0					3																	44489008		2203	4300	6503	SO:0001583	missense	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2155G>A	3.37:g.44489008C>T	ENSP00000379387:p.Ala719Thr		Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A719T	ENST00000396077.2	37	c.2155	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	c	0.195	-1.049948	0.01981	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.17691	2.26;2.26	3.7	-5.09	0.02920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.745111	0.12010	N	0.507948	T	0.06554	0.0168	N	0.20530	0.585	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.41998	-0.9477	10	0.07482	T	0.82	.	4.9841	0.14182	0.1281:0.5268:0.1399:0.2052	.	707;719	B7ZKX2;P59923	.;ZN445_HUMAN	T	719	ENSP00000413073:A719T;ENSP00000379387:A719T	ENSP00000379387:A719T	A	-	1	0	ZNF445	44464012	0.000000	0.05858	0.000000	0.03702	0.588000	0.36517	-2.399000	0.01050	-1.079000	0.03113	-0.382000	0.06688	GCC	ZNF445	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	C	NM_181489		44489008	-1	no_errors	ENST00000396077	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF519	162655	genome.wustl.edu	37	18	14105614	14105614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr18:14105614G>A	ENST00000590202.1	-	3	1077	c.925C>T	c.(925-927)Caa>Taa	p.Q309*	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	309					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CTCTGATGTTGAGCAAGGTGT	0.398																																																	0													72.0	74.0	73.0					18																	14105614		2203	4300	6503	SO:0001587	stop_gained	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.925C>T	18.37:g.14105614G>A	ENSP00000464872:p.Gln309*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q309*	ENST00000590202.1	37	c.925	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894895	0.72639	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2676	0.20936	0.0:0.3979:0.6021:0.0	.	.	.	.	X	309	.	ENSP00000307908:Q309X	Q	-	1	0	ZNF519	14095614	0.000000	0.05858	0.455000	0.27031	0.539000	0.34962	-6.219000	0.00075	-0.563000	0.06078	0.089000	0.15464	CAA	ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	G	NM_145287		14105614	-1	no_errors	ENST00000590202	ensembl	human	known	70_37	nonsense	SNP	0.011	A
ZNF565	147929	genome.wustl.edu	37	19	36673847	36673847	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:36673847C>T	ENST00000355114.5	-	5	1867	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	ZNF565_ENST00000304116.5_Missense_Mutation_p.G341R|ZNF565_ENST00000392173.2_Missense_Mutation_p.G341R			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AAGCCCTTTCCGCATTCCTTA	0.468																																																	0													83.0	75.0	77.0					19																	36673847		2203	4300	6503	SO:0001583	missense	147929			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1141G>A	19.37:g.36673847C>T	ENSP00000347234:p.Gly381Arg		B3KQ35|Q6NUS2	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.G341R	ENST00000355114.5	37	c.1021		19	.	.	.	.	.	.	.	.	.	.	c	13.02	2.111921	0.37242	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.01025	5.43;5.43;5.43	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36409	N	0.002610	T	0.04182	0.0116	M	0.85859	2.78	0.33717	D	0.616546	D	0.71674	0.998	P	0.52758	0.708	T	0.06881	-1.0802	10	0.66056	D	0.02	.	15.559	0.76223	0.0:1.0:0.0:0.0	.	341	Q8N9K5	ZN565_HUMAN	R	341;341;381	ENSP00000376013:G341R;ENSP00000306869:G341R;ENSP00000347234:G381R	ENSP00000306869:G341R	G	-	1	0	ZNF565	41365687	0.998000	0.40836	0.993000	0.49108	0.013000	0.08279	2.975000	0.49281	2.602000	0.87976	0.650000	0.86243	GGA	ZNF565	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF565-003	PUTATIVE	basic	protein_coding	ZNF565	HGNC	protein_coding	OTTHUMT00000451697.1	C	NM_152477		36673847	-1	no_errors	ENST00000304116	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF551	90233	genome.wustl.edu	37	19	58196731	58196731	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:58196731C>A	ENST00000282296.5	+	2	368	c.183C>A	c.(181-183)aaC>aaA	p.N61K	ZNF551_ENST00000356715.4_Missense_Mutation_p.N45K|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Missense_Mutation_p.N45K|ZNF551_ENST00000599402.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	61	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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCTGGAGAACTTTGCACATG	0.493																																																	0													267.0	235.0	246.0					19																	58196731		2203	4300	6503	SO:0001583	missense	90233			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.183C>A	19.37:g.58196731C>A	ENSP00000282296:p.Asn61Lys		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N61K	ENST00000282296.5	37	c.183	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566815	0.28003	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.17	1.13	0.20643	Krueppel-associated box (4);	.	.	.	.	T	0.69700	0.3140	M	0.92691	3.335	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.55891	-0.8069	8	0.87932	D	0	.	4.6489	0.12585	0.0:0.812:0.0:0.188	.	61	Q7Z340	ZN551_HUMAN	K	61;45;33	.	ENSP00000282296:N45K	N	+	3	2	ZNF551	62888543	0.000000	0.05858	0.013000	0.15412	0.328000	0.28507	-0.012000	0.12699	0.473000	0.27368	0.462000	0.41574	AAC	ZNF551	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.493	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	C	NM_138347		58196731	+1	no_errors	ENST00000356715	ensembl	human	known	70_37	missense	SNP	0.046	A
ZNF620	253639	genome.wustl.edu	37	3	40558018	40558018	+	Missense_Mutation	SNP	C	C	A	rs375417538		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr3:40558018C>A	ENST00000314529.6	+	5	1082	c.933C>A	c.(931-933)aaC>aaA	p.N311K	ZNF620_ENST00000418905.1_Missense_Mutation_p.N197K	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ATGAATGTAACGAATGTTGGA	0.473																																																	0													60.0	61.0	60.0					3																	40558018		2203	4300	6503	SO:0001583	missense	253639			AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.933C>A	3.37:g.40558018C>A	ENSP00000322265:p.Asn311Lys		Q8N223	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.N311K	ENST00000314529.6	37	c.933	CCDS33740.1	3	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.917157	0.00003	.	.	ENSG00000177842	ENST00000314529;ENST00000418905	T;T	0.15834	2.39;2.39	2.65	-5.31	0.02730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13575	-1.0504	8	.	.	.	.	1.0489	0.01575	0.2761:0.3223:0.2766:0.125	.	311	Q6ZNG0	ZN620_HUMAN	K	311;197	ENSP00000322265:N311K;ENSP00000391472:N197K	.	N	+	3	2	ZNF620	40533022	.	.	0.000000	0.03702	0.005000	0.04900	.	.	-4.587000	0.00041	-1.564000	0.00881	AAC	ZNF620	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF620	HGNC	protein_coding	OTTHUMT00000342824.1	C	XM_171060		40558018	+1	no_errors	ENST00000314529	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF648	127665	genome.wustl.edu	37	1	182027076	182027076	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr1:182027076G>C	ENST00000339948.3	-	2	277	c.70C>G	c.(70-72)Cat>Gat	p.H24D		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TGGGTGTCATGAGCTTCCTCA	0.577																																					NSCLC(71;908 1374 5429 20458 35642)												0													87.0	78.0	81.0					1																	182027076		2203	4300	6503	SO:0001583	missense	127665			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.70C>G	1.37:g.182027076G>C	ENSP00000344129:p.His24Asp		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H24D	ENST00000339948.3	37	c.70	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	G	6.522	0.464501	0.12402	.	.	ENSG00000179930	ENST00000339948	T	0.07688	3.17	1.84	0.91	0.19337	.	.	.	.	.	T	0.04770	0.0129	N	0.19112	0.55	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.40701	-0.9549	9	0.39692	T	0.17	.	3.0815	0.06264	0.1815:0.2909:0.5276:0.0	.	24	Q5T619	ZN648_HUMAN	D	24	ENSP00000344129:H24D	ENSP00000344129:H24D	H	-	1	0	ZNF648	180293699	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.307000	0.19296	0.351000	0.24027	0.655000	0.94253	CAT	ZNF648	-	NULL		0.577	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	G	XM_060597		182027076	-1	no_errors	ENST00000339948	ensembl	human	known	70_37	missense	SNP	0.001	C
ZNF805	390980	genome.wustl.edu	37	19	57764449	57764449	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:57764449G>C	ENST00000414468.2	+	4	262	c.262G>C	c.(262-264)Gga>Cga	p.G88R	ZNF805_ENST00000535550.1_5'UTR|ZNF805_ENST00000354309.4_5'UTR	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						AGGTGACAAAGGAAAACCCAA	0.413																																																	0													86.0	79.0	81.0					19																	57764449		692	1591	2283	SO:0001583	missense	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.262G>C	19.37:g.57764449G>C	ENSP00000412999:p.Gly88Arg		B4DNM5	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.G88R	ENST00000414468.2	37	c.262	CCDS46207.1	19	.	.	.	.	.	.	.	.	.	.	G	3.751	-0.051578	0.07362	.	.	ENSG00000204524	ENST00000414468	T	0.25912	1.77	4.06	0.781	0.18561	.	.	.	.	.	T	0.14184	0.0343	L	0.27053	0.805	0.09310	N	0.999994	B	0.11235	0.004	B	0.08055	0.003	T	0.35151	-0.9800	9	0.15066	T	0.55	.	6.0475	0.19768	0.328:0.0:0.672:0.0	.	88	Q5CZA5	ZN805_HUMAN	R	88	ENSP00000412999:G88R	ENSP00000412999:G88R	G	+	1	0	ZNF805	62456261	0.072000	0.21174	0.000000	0.03702	0.079000	0.17450	1.492000	0.35594	0.280000	0.22209	0.591000	0.81541	GGA	ZNF805	-	NULL		0.413	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	G	NM_001023563		57764449	+1	no_errors	ENST00000414468	ensembl	human	known	70_37	missense	SNP	0.002	C
ZNF814	730051	genome.wustl.edu	37	19	58384994	58384994	+	Silent	SNP	G	G	A	rs562476717		TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr19:58384994G>A	ENST00000435989.2	-	3	1998	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	588					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TAAGGTGCCCGATTGAACTAA	0.453																																																	0													93.0	75.0	81.0					19																	58384994		692	1591	2283	SO:0001819	synonymous_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1764C>T	19.37:g.58384994G>A			A6NF35	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I588	ENST00000435989.2	37	c.1764	CCDS46212.1	19																																																																																			ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	G	XM_001725708		58384994	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF831	128611	genome.wustl.edu	37	20	57766154	57766154	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2PM-01A-11D-A18J-09	TCGA-EK-A2PM-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5228d17-d2d1-44a6-8357-4fa98faba5eb	a4c74f12-0942-4f62-a6e3-bca6765ead1b	g.chr20:57766154C>G	ENST00000371030.2	+	1	80	c.80C>G	c.(79-81)cCa>cGa	p.P27R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	27	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCAGGGGCCCCAGGTGGCCAG	0.697																																																	0													25.0	28.0	27.0					20																	57766154		1917	4123	6040	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.80C>G	20.37:g.57766154C>G	ENSP00000360069:p.Pro27Arg		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P27R	ENST00000371030.2	37	c.80	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637265	0.29157	.	.	ENSG00000124203	ENST00000371030	T	0.04809	3.55	5.12	3.14	0.36123	.	.	.	.	.	T	0.06735	0.0172	N	0.19112	0.55	0.09310	N	1	D	0.60575	0.988	P	0.54026	0.74	T	0.34675	-0.9819	9	0.59425	D	0.04	-0.1312	8.1769	0.31287	0.1548:0.765:0.0:0.0802	.	27	Q5JPB2	ZN831_HUMAN	R	27	ENSP00000360069:P27R	ENSP00000360069:P27R	P	+	2	0	ZNF831	57199549	0.000000	0.05858	0.021000	0.16686	0.848000	0.48234	0.373000	0.20484	0.709000	0.31976	0.655000	0.94253	CCA	ZNF831	-	NULL		0.697	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	C	NM_178457		57766154	+1	no_errors	ENST00000371030	ensembl	human	novel	70_37	missense	SNP	0.001	G
