#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
ABCA13	154664	genome.wustl.edu	37	7	48312496	48312496	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:48312496C>T	ENST00000435803.1	+	17	3257	c.3233C>T	c.(3232-3234)tCt>tTt	p.S1078F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1078					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTCGTATTTCTTTATTTCAA	0.363																																																	0													38.0	36.0	36.0					7																	48312496		1815	4076	5891	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3233C>T	7.37:g.48312496C>T	ENSP00000411096:p.Ser1078Phe		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1078F	ENST00000435803.1	37	c.3233	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859190	0.71834	.	.	ENSG00000179869	ENST00000435803	D	0.91464	-2.85	5.7	5.7	0.88788	.	0.000000	0.49305	D	0.000155	D	0.94265	0.8158	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.64042	0.921	D	0.94370	0.7595	10	0.87932	D	0	.	17.353	0.87329	0.0:1.0:0.0:0.0	.	1078	Q86UQ4	ABCAD_HUMAN	F	1078	ENSP00000411096:S1078F	ENSP00000411096:S1078F	S	+	2	0	ABCA13	48283042	0.002000	0.14202	0.984000	0.44739	0.851000	0.48451	0.925000	0.28791	2.848000	0.98002	0.655000	0.94253	TCT	ABCA13	-	NULL		0.363	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48312496	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.666	T
ABCA7	10347	genome.wustl.edu	37	19	1053488	1053488	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:1053488G>A	ENST00000263094.6	+	24	3612	c.3381G>A	c.(3379-3381)ctG>ctA	p.L1127L	ABCA7_ENST00000433129.1_Silent_p.L1127L|ABCA7_ENST00000435683.2_Silent_p.L989L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1127					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCGGAGCTGAGGCTCACTG	0.667																																																	0													13.0	12.0	12.0					19																	1053488		2178	4259	6437	SO:0001819	synonymous_variant	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.3381G>A	19.37:g.1053488G>A			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1127	ENST00000263094.6	37	c.3381	CCDS12055.1	19																																																																																			ABCA7	-	NULL		0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	G	NM_019112		1053488	+1	no_errors	ENST00000263094	ensembl	human	known	70_37	silent	SNP	0.999	A
ABCB5	340273	genome.wustl.edu	37	7	20762743	20762743	+	Silent	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:20762743G>C	ENST00000404938.2	+	21	3178	c.2526G>C	c.(2524-2526)ctG>ctC	p.L842L	ABCB5_ENST00000258738.6_Silent_p.L397L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	842	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCCTGATTCTGAGTATTGCTC	0.418																																																	0													164.0	153.0	157.0					7																	20762743		2203	4300	6503	SO:0001819	synonymous_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2526G>C	7.37:g.20762743G>C			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L397	ENST00000404938.2	37	c.1191	CCDS55090.1	7																																																																																			ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.418	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	G	NM_178559		20762743	+1	no_errors	ENST00000258738	ensembl	human	known	70_37	silent	SNP	0.554	C
ABCB1	5243	genome.wustl.edu	37	7	87179871	87179871	+	Silent	SNP	C	C	T	rs200370991		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:87179871C>T	ENST00000265724.3	-	12	1554	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	ABCB1_ENST00000543898.1_Silent_p.S315S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	379					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCCCACTCTTCGAATAGCTGT	0.333																																																	0													93.0	90.0	91.0					7																	87179871		2203	4300	6503	SO:0001819	synonymous_variant	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1137G>A	7.37:g.87179871C>T			A8K294|B5AK60|Q12755|Q14812	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S379	ENST00000265724.3	37	c.1137	CCDS5608.1	7																																																																																			ABCB1	-	NULL		0.333	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	C	NM_000927		87179871	-1	no_errors	ENST00000265724	ensembl	human	known	70_37	silent	SNP	0.052	T
ABCC9	10060	genome.wustl.edu	37	12	21997453	21997453	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:21997453G>A	ENST00000261201.4	-	26	3278	c.3279C>T	c.(3277-3279)ctC>ctT	p.L1093L	ABCC9_ENST00000261200.4_Silent_p.L1093L|ABCC9_ENST00000345162.2_Silent_p.L1057L|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1093	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAAAGCGATTGAGAATCAGTC	0.358																																																	0													102.0	110.0	107.0					12																	21997453		2203	4300	6503	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3279C>T	12.37:g.21997453G>A			O60707	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L1093	ENST00000261201.4	37	c.3279	CCDS8694.1	12																																																																																			ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.358	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	G	NM_005691		21997453	-1	no_errors	ENST00000261200	ensembl	human	known	70_37	silent	SNP	0.989	A
ABCG5	64240	genome.wustl.edu	37	2	44051059	44051059	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:44051059C>T	ENST00000260645.1	-	9	1456	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	ABCG5_ENST00000543989.1_Silent_p.V44V|ABCG5_ENST00000405322.1_Silent_p.V268V	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	439	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TACACAGATTCACAGCGTTCA	0.522																																																	0													75.0	60.0	65.0					2																	44051059		2203	4300	6503	SO:0001819	synonymous_variant	64240			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1317G>A	2.37:g.44051059C>T			Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V439	ENST00000260645.1	37	c.1317	CCDS1814.1	2																																																																																			ABCG5	-	pfam_ABC_2_trans		0.522	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG5	HGNC	protein_coding	OTTHUMT00000250675.1	C	NM_022436		44051059	-1	no_errors	ENST00000260645	ensembl	human	known	70_37	silent	SNP	0.813	T
ABHD15	116236	genome.wustl.edu	37	17	27889580	27889580	+	Nonstop_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:27889580C>G	ENST00000307201.4	-	2	1576	c.1406G>C	c.(1405-1407)tGa>tCa	p.*469S	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	0						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCAGGTCTTTCACCTTGTGTA	0.572																																																	0													79.0	87.0	84.0					17																	27889580		2203	4300	6503	SO:0001578	stop_lost	116236			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1406G>C	17.37:g.27889580C>G			Q96EC5	Nonstop_Mutation	SNP	pirsf_AB-Hydro_YheT	p.*469S	ENST00000307201.4	37	c.1406	CCDS32602.1	17	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105171	0.37145	.	.	ENSG00000168792	ENST00000307201	.	.	.	5.77	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5702	0.56332	0.0:0.9198:0.0:0.0802	.	.	.	.	S	469	.	.	X	-	2	2	ABHD15	24913706	1.000000	0.71417	0.985000	0.45067	0.805000	0.45488	3.562000	0.53777	1.466000	0.48025	0.655000	0.94253	TGA	ABHD15	-	NULL		0.572	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD15	HGNC	protein_coding	OTTHUMT00000447796.2	C	NM_198147		27889580	-1	no_errors	ENST00000307201	ensembl	human	known	70_37	nonstop	SNP	1.000	G
ABL1	25	genome.wustl.edu	37	9	133750392	133750392	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:133750392C>G	ENST00000318560.5	+	7	1604	c.1223C>G	c.(1222-1224)cCc>cGc	p.P408R		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	408	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGGACTGCACCCGAGAGCCTG	0.547			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											108.0	86.0	93.0					9																	133750392		2203	4300	6503	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1223C>G	9.37:g.133750392C>G	ENSP00000323315:p.Pro408Arg		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.P427R	ENST00000318560.5	37	c.1280	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766472	0.90020	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.89939	-2.59;-2.59	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	H	0.99347	4.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.99097	1.0842	10	0.87932	D	0	.	17.802	0.88590	0.0:1.0:0.0:0.0	.	408;445	P00519;Q59FK4	ABL1_HUMAN;.	R	223;427;408	ENSP00000361423:P427R;ENSP00000323315:P408R	ENSP00000323315:P408R	P	+	2	0	ABL1	132740213	1.000000	0.71417	0.110000	0.21437	0.972000	0.66771	7.810000	0.86072	2.450000	0.82876	0.655000	0.94253	CCC	ABL1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.547	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	C	NM_007313		133750392	+1	no_errors	ENST00000372348	ensembl	human	known	70_37	missense	SNP	1.000	G
ACADVL	37	genome.wustl.edu	37	17	7128316	7128316	+	Missense_Mutation	SNP	C	C	G	rs13383		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:7128316C>G	ENST00000356839.5	+	20	2047	c.1868C>G	c.(1867-1869)tCt>tGt	p.S623C	ACADVL_ENST00000543245.2_Missense_Mutation_p.S646C|ACADVL_ENST00000350303.5_Missense_Mutation_p.S601C|MIR324_ENST00000362183.1_RNA	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	623			S -> F (in dbSNP:rs13383).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GCCCTGCAGTCTGACCCCTGG	0.637																																																	0													70.0	73.0	72.0					17																	7128316		2203	4300	6503	SO:0001583	missense	37			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1868C>G	17.37:g.7128316C>G	ENSP00000349297:p.Ser623Cys		B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.S623C	ENST00000356839.5	37	c.1868	CCDS11090.1	17	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360652	0.24598	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	T;T	0.80653	-1.4;-1.4	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.84515	0.5489	M	0.74389	2.26	0.80722	D	1	B;B;D	0.67145	0.097;0.051;0.996	B;B;P	0.48552	0.021;0.011;0.581	D	0.86497	0.1801	10	0.66056	D	0.02	.	17.4117	0.87487	0.0:1.0:0.0:0.0	.	646;601;623	F5H2A9;P49748-2;P49748	.;.;ACADV_HUMAN	C	646;669;601;623;669	ENSP00000438689:S646C;ENSP00000344152:S601C	ENSP00000325395:S623C	S	+	2	0	ACADVL	7069040	0.939000	0.31865	0.993000	0.49108	0.831000	0.47069	2.064000	0.41432	2.723000	0.93209	0.655000	0.94253	TCT	ACADVL	-	NULL		0.637	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ACADVL	HGNC	protein_coding	OTTHUMT00000220001.5	C	NM_000018		7128316	+1	no_errors	ENST00000356839	ensembl	human	known	70_37	missense	SNP	0.995	G
ACACA	31	genome.wustl.edu	37	17	35687173	35687173	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:35687173G>A	ENST00000394406.2	-	3	357	c.167C>T	c.(166-168)tCa>tTa	p.S56L	ACACA_ENST00000353139.5_Missense_Mutation_p.S93L|ACACA_ENST00000416895.1_Missense_Mutation_p.S56L|ACACA_ENST00000588142.1_Missense_Mutation_p.S56L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	56					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAGTGTATCTGAGCCAACAGA	0.468																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													156.0	134.0	142.0					17																	35687173		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.167C>T	17.37:g.35687173G>A	ENSP00000377928:p.Ser56Leu		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.S93L	ENST00000394406.2	37	c.278	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077185	0.76415	.	.	ENSG00000132142	ENST00000353139;ENST00000394406;ENST00000452074;ENST00000451642;ENST00000416895	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.67	5.67	0.87782	.	0.203246	0.44483	D	0.000444	T	0.34250	0.0891	N	0.19112	0.55	0.80722	D	1	B;B	0.15930	0.001;0.015	B;B	0.10450	0.002;0.005	T	0.08617	-1.0713	10	0.56958	D	0.05	-7.919	19.7705	0.96361	0.0:0.0:1.0:0.0	.	93;56	Q13085-4;Q13085	.;ACACA_HUMAN	L	93;56;80;56;56	ENSP00000344789:S93L;ENSP00000377928:S56L;ENSP00000397282:S56L;ENSP00000399445:S56L	ENSP00000344789:S93L	S	-	2	0	ACACA	32761286	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.989000	0.88205	2.669000	0.90835	0.655000	0.94253	TCA	ACACA	-	NULL		0.468	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	G	NM_198836		35687173	-1	no_errors	ENST00000353139	ensembl	human	known	70_37	missense	SNP	1.000	A
ACIN1	22985	genome.wustl.edu	37	14	23528476	23528476	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:23528476C>T	ENST00000262710.1	-	19	4234	c.3907G>A	c.(3907-3909)Gat>Aat	p.D1303N	ACIN1_ENST00000555053.1_Missense_Mutation_p.D1290N|ACIN1_ENST00000457657.1_Missense_Mutation_p.D1263N|CDH24_ENST00000487137.2_5'Flank|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000338631.6_Missense_Mutation_p.D576N|ACIN1_ENST00000397341.3_Missense_Mutation_p.D545N|ACIN1_ENST00000605057.1_Missense_Mutation_p.D1245N|ACIN1_ENST00000357481.2_Missense_Mutation_p.D545N|ACIN1_ENST00000557515.1_Missense_Mutation_p.D544N	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1303	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTATCCCGATCTCGGTCCCcc	0.637											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													130.0	101.0	111.0					14																	23528476		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3907G>A	14.37:g.23528476C>T	ENSP00000262710:p.Asp1303Asn	764	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.D1303N	ENST00000262710.1	37	c.3907	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700464	0.48307	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	4.05	4.05	0.47172	.	0.573873	0.14484	N	0.316767	T	0.30603	0.0770	N	0.08118	0	0.29893	N	0.825034	B;B;B;B;B	0.26445	0.13;0.079;0.023;0.149;0.149	B;B;B;B;B	0.23574	0.047;0.021;0.015;0.023;0.023	T	0.28681	-1.0036	10	0.49607	T	0.09	-1.7347	15.4933	0.75629	0.0:1.0:0.0:0.0	.	1290;1303;1263;576;545	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	N	544;576;545;1303;1263;545;1290	ENSP00000451138:D544N;ENSP00000345541:D576N;ENSP00000350073:D545N;ENSP00000262710:D1303N;ENSP00000405677:D1263N;ENSP00000380502:D545N;ENSP00000451328:D1290N	ENSP00000262710:D1303N	D	-	1	0	ACIN1	22598316	0.990000	0.36364	0.736000	0.30914	0.268000	0.26511	3.948000	0.56660	2.261000	0.74972	0.563000	0.77884	GAT	ACIN1	-	NULL		0.637	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	C	NM_014977		23528476	-1	no_errors	ENST00000262710	ensembl	human	known	70_37	missense	SNP	0.982	T
ACPT	93650	genome.wustl.edu	37	19	51298186	51298186	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:51298186C>T	ENST00000270593.1	+	10	1130	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	ACPT_ENST00000270594.3_Missense_Mutation_p.S284F|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	377						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CATGGGGTCTCCTGCCATGGC	0.706																																																	0													42.0	53.0	49.0					19																	51298186		2203	4299	6502	SO:0001583	missense	93650			AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.1130C>T	19.37:g.51298186C>T	ENSP00000270593:p.Ser377Phe		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.S284F	ENST00000270593.1	37	c.851	CCDS12802.1	19	.	.	.	.	.	.	.	.	.	.	c	14.20	2.464083	0.43736	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.76060	2.33;-0.99	4.56	2.34	0.29019	.	0.324515	0.25055	N	0.033497	T	0.50429	0.1615	N	0.08118	0	0.24224	N	0.995422	B	0.21309	0.054	B	0.15484	0.013	T	0.46275	-0.9203	10	0.87932	D	0	-11.1588	6.3406	0.21321	0.0:0.7093:0.1869:0.1038	.	377	Q9BZG2	PPAT_HUMAN	F	377;284	ENSP00000270593:S377F;ENSP00000270594:S284F	ENSP00000270593:S377F	S	+	2	0	ACPT	55989998	0.708000	0.27876	0.998000	0.56505	0.735000	0.41995	1.049000	0.30392	0.449000	0.26747	0.561000	0.74099	TCC	ACPT	-	NULL		0.706	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACPT	HGNC	protein_coding	OTTHUMT00000464434.1	C	NM_033068		51298186	+1	no_errors	ENST00000270594	ensembl	human	known	70_37	missense	SNP	0.990	T
ACRC	93953	genome.wustl.edu	37	X	70828885	70828885	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:70828885C>G	ENST00000373695.1	+	9	2066	c.1529C>G	c.(1528-1530)tCt>tGt	p.S510C	ACRC_ENST00000373696.3_Missense_Mutation_p.S510C			Q96QF7	ACRC_HUMAN	acidic repeat containing	510	Arg/Lys/Pro-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AAGAAATACTCTGGAAAAAAT	0.358																																																	0													57.0	52.0	53.0					X																	70828885		2203	4300	6503	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1529C>G	X.37:g.70828885C>G	ENSP00000362799:p.Ser510Cys		B9EG62	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.S510C	ENST00000373695.1	37	c.1529	CCDS35326.1	X	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718812	0.48622	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.34275	1.37;1.37	5.05	4.11	0.48088	.	.	.	.	.	T	0.51176	0.1659	L	0.60455	1.87	0.09310	N	1	D	0.76494	0.999	D	0.66847	0.947	T	0.33163	-0.9879	9	0.54805	T	0.06	.	8.587	0.33664	0.2483:0.7517:0.0:0.0	.	510	Q96QF7	ACRC_HUMAN	C	510	ENSP00000362800:S510C;ENSP00000362799:S510C	ENSP00000362799:S510C	S	+	2	0	ACRC	70745610	1.000000	0.71417	0.382000	0.26119	0.003000	0.03518	3.478000	0.53158	2.333000	0.79357	0.436000	0.28706	TCT	ACRC	-	NULL		0.358	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	C			70828885	+1	no_errors	ENST00000373695	ensembl	human	known	70_37	missense	SNP	0.149	G
ACSS3	79611	genome.wustl.edu	37	12	81627245	81627245	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:81627245G>A	ENST00000548058.1	+	13	2624	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	ACSS3_ENST00000548324.1_Missense_Mutation_p.E254K|ACSS3_ENST00000261206.3_Missense_Mutation_p.E571K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	572						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGGCGCCATTGAAGAGGTATT	0.393																																																	0													180.0	177.0	178.0					12																	81627245		2203	4300	6503	SO:0001583	missense	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1714G>A	12.37:g.81627245G>A	ENSP00000449535:p.Glu572Lys		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.E572K	ENST00000548058.1	37	c.1714	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.629162	0.96671	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.79141	-1.24;-1.24;-1.24	5.84	5.84	0.93424	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.95672	0.8724	10	0.87932	D	0	-15.9603	19.7715	0.96367	0.0:0.0:1.0:0.0	.	254;572	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	K	572;571;254	ENSP00000449535:E572K;ENSP00000261206:E571K;ENSP00000448965:E254K	ENSP00000261206:E571K	E	+	1	0	ACSS3	80151376	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.282000	0.95840	2.777000	0.95525	0.650000	0.86243	GAA	ACSS3	-	pfam_AMP-dep_Synth/Lig		0.393	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	G	NM_024560		81627245	+1	no_errors	ENST00000548058	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAD2	161931	genome.wustl.edu	37	16	84229448	84229448	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:84229448C>T	ENST00000315906.5	+	7	1132	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Silent_p.L442L	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	360	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AAGGTGGCCTCCCGCACAGCC	0.701																																																	0													15.0	17.0	16.0					16																	84229448		2183	4274	6457	SO:0001819	synonymous_variant	161931			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1080C>T	16.37:g.84229448C>T			B2RCL6|Q8NA94	Silent	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.L442	ENST00000315906.5	37	c.1326	CCDS45536.1	16																																																																																			ADAD2	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin		0.701	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	HGNC	protein_coding	OTTHUMT00000433385.1	C	NM_139174		84229448	+1	no_errors	ENST00000268624	ensembl	human	known	70_37	silent	SNP	0.000	T
ADAM15	8751	genome.wustl.edu	37	1	155028479	155028479	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:155028479G>A	ENST00000356955.2	+	8	845				ADAM15_ENST00000472434.1_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Intron|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000359280.4_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000447332.3_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15						angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGACACAGTGAGTGCTGGAC	0.592																																																	0													64.0	63.0	63.0					1																	155028479		2203	4300	6503	SO:0001627	intron_variant	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.744+3G>A	1.37:g.155028479G>A			B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	RNA	SNP	-	NULL	ENST00000356955.2	37	NULL	CCDS1087.1	1																																																																																			ADAM15	-	-		0.592	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	G	NM_003815		155028479	+1	no_errors	ENST00000470779	ensembl	human	known	70_37	rna	SNP	1.000	A
ADAMTS1	9510	genome.wustl.edu	37	21	28210520	28210520	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:28210520G>A	ENST00000284984.3	-	9	2736	c.2282C>T	c.(2281-2283)tCc>tTc	p.S761F		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	761	Spacer.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ATTGTTCCTGGATCCCCTCTG	0.448																																																	0													93.0	73.0	80.0					21																	28210520		2202	4300	6502	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2282C>T	21.37:g.28210520G>A	ENSP00000284984:p.Ser761Phe		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.S761F	ENST00000284984.3	37	c.2282	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176830	0.57692	.	.	ENSG00000154734	ENST00000284984	T	0.63255	-0.03	5.65	5.65	0.86999	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.71871	0.3391	M	0.64997	1.995	0.45261	D	0.998267	P	0.45126	0.851	P	0.50860	0.652	T	0.70676	-0.4806	9	0.49607	T	0.09	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	761	Q9UHI8	ATS1_HUMAN	F	761	ENSP00000284984:S761F	ENSP00000284984:S761F	S	-	2	0	ADAMTS1	27132391	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	6.791000	0.75120	2.941000	0.99782	0.655000	0.94253	TCC	ADAMTS1	-	pfam_ADAM_spacer1		0.448	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	G			28210520	-1	no_errors	ENST00000284984	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS16	170690	genome.wustl.edu	37	5	5140861	5140861	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:5140861G>A	ENST00000274181.7	+	2	295	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.G53S|CTD-2297D10.1_ENST00000514848.1_RNA|CTD-2297D10.2_ENST00000512155.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	53					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGAGCGGCCGGGCTGGATGGA	0.657																																																	0													6.0	9.0	8.0					5																	5140861		1825	4060	5885	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.157G>A	5.37:g.5140861G>A	ENSP00000274181:p.Gly53Ser		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G53S	ENST00000274181.7	37	c.157	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440396	0.25900	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61040	0.22;0.14	4.05	2.12	0.27331	.	0.821718	0.10161	N	0.708273	T	0.33030	0.0849	N	0.12182	0.205	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.003	B;B;B	0.08055	0.001;0.003;0.001	T	0.22556	-1.0213	10	0.08837	T	0.75	.	7.0404	0.25017	0.1007:0.1736:0.7257:0.0	.	53;53;53	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	S	53	ENSP00000274181:G53S;ENSP00000421631:G53S	ENSP00000274181:G53S	G	+	1	0	ADAMTS16	5193861	0.016000	0.18221	0.000000	0.03702	0.052000	0.14988	2.080000	0.41586	0.246000	0.21394	0.313000	0.20887	GGC	ADAMTS16	-	pfam_Peptidase_M12B_N		0.657	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5140861	+1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	0.005	A
ADAMTS12	81792	genome.wustl.edu	37	5	33616032	33616032	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:33616032C>T	ENST00000504830.1	-	15	2624	c.2289G>A	c.(2287-2289)ggG>ggA	p.G763G	ADAMTS12_ENST00000352040.3_Silent_p.G678G|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	763	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTTATAGTTCCCGTTCCACT	0.483										HNSCC(64;0.19)																																							0													143.0	131.0	135.0					5																	33616032		2203	4300	6503	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2289G>A	5.37:g.33616032C>T			A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G763	ENST00000504830.1	37	c.2289	CCDS34140.1	5																																																																																			ADAMTS12	-	pfam_ADAM_spacer1		0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33616032	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	silent	SNP	0.929	T
AHCTF1	25909	genome.wustl.edu	37	1	247013291	247013291	+	Missense_Mutation	SNP	C	C	G	rs532869215		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:247013291C>G	ENST00000391829.2	-	33	6140	c.6017G>C	c.(6016-6018)aGa>aCa	p.R2006T	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R2041T|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2015T			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2006	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {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)			AGATCTCCTTCTAATGCTGGG	0.403													T|||	1	0.000199681	0.0	0.0	5008	,	,		17397	0.001		0.0	False		,,,				2504	0.0				Colon(145;197 1800 4745 15099 26333)												0													81.0	80.0	80.0					1																	247013291		2203	4300	6503	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.6017G>C	1.37:g.247013291C>G	ENSP00000375705:p.Arg2006Thr		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.R2015T	ENST00000391829.2	37	c.6044		1	.	.	.	.	.	.	.	.	.	.	T	0.666	-0.803888	0.02819	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34667	1.35;1.35;1.35	4.3	-1.51	0.08664	.	1.024300	0.07801	N	0.956460	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30446	-0.9978	10	0.18276	T	0.48	-1.0E-4	9.9894	0.41860	0.0:0.0915:0.669:0.2395	.	867;2041;2006	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	T	2041;2015;2006	ENSP00000355464:R2041T;ENSP00000355465:R2015T;ENSP00000375705:R2006T	ENSP00000355465:R2015T	R	-	2	0	AHCTF1	245079914	0.056000	0.20664	0.003000	0.11579	0.012000	0.07955	-0.187000	0.09656	-0.403000	0.07622	-0.254000	0.11334	AGA	AHCTF1	-	NULL		0.403	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446		247013291	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	0.007	G
ALKBH5	54890	genome.wustl.edu	37	17	18087692	18087692	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:18087692C>T	ENST00000399138.4	+	1	140	c.135C>T	c.(133-135)gcC>gcT	p.A45A	ALKBH5_ENST00000541285.1_Intron|RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	45	Ala-rich.				cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					ccgcagccgccgctgccgccg	0.692																																					Ovarian(166;154 1953 40235 46283 46309)												0													3.0	3.0	3.0					17																	18087692		1591	3589	5180	SO:0001819	synonymous_variant	54890			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.135C>T	17.37:g.18087692C>T			B4DVJ4|D3DXC6|Q9NXD6	Silent	SNP	NULL	p.A45	ENST00000399138.4	37	c.135	CCDS42272.1	17																																																																																			ALKBH5	-	NULL		0.692	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH5	HGNC	protein_coding	OTTHUMT00000132069.3	C	NM_017758		18087692	+1	no_errors	ENST00000399138	ensembl	human	known	70_37	silent	SNP	0.872	T
ALPK3	57538	genome.wustl.edu	37	15	85383341	85383341	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:85383341C>T	ENST00000258888.5	+	5	1604	c.1437C>T	c.(1435-1437)aaC>aaT	p.N479N		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	479					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGACCACCAACGGGGAGGCTG	0.597																																																	0													63.0	59.0	60.0					15																	85383341		2203	4299	6502	SO:0001819	synonymous_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1437C>T	15.37:g.85383341C>T			Q9P2L6	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.N479	ENST00000258888.5	37	c.1437	CCDS10333.1	15																																																																																			ALPK3	-	NULL		0.597	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	C	NM_020778		85383341	+1	no_errors	ENST00000258888	ensembl	human	known	70_37	silent	SNP	0.828	T
AMOT	154796	genome.wustl.edu	37	X	112058936	112058936	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:112058936G>A	ENST00000524145.1	-	3	1116	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Missense_Mutation_p.H116Y|AMOT_ENST00000371962.1_Missense_Mutation_p.H116Y|AMOT_ENST00000371959.3_Missense_Mutation_p.H348Y			Q4VCS5	AMOT_HUMAN	angiomotin	348					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTAGGCAGGTGAGCTGAATGG	0.582																																																	0													86.0	77.0	79.0					X																	112058936		692	1591	2283	SO:0001583	missense	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1042C>T	X.37:g.112058936G>A	ENSP00000429013:p.His348Tyr		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.H348Y	ENST00000524145.1	37	c.1042	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801534	0.31869	.	.	ENSG00000126016	ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.31	5.31	0.75309	.	0.333963	0.28031	N	0.016875	T	0.04318	0.0119	N	0.22421	0.69	0.29168	N	0.877329	P	0.41450	0.75	B	0.28385	0.089	T	0.17410	-1.0370	10	0.02654	T	1	-15.8529	8.0096	0.30344	0.0:0.1562:0.6544:0.1894	.	348	Q4VCS5	AMOT_HUMAN	Y	348;116;348;116	ENSP00000361027:H348Y;ENSP00000361030:H116Y;ENSP00000429013:H348Y;ENSP00000361026:H116Y	ENSP00000361026:H116Y	H	-	1	0	AMOT	111945592	0.610000	0.26983	0.997000	0.53966	0.979000	0.70002	0.500000	0.22562	2.475000	0.83589	0.529000	0.55759	CAC	AMOT	-	NULL		0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	G	NM_133265		112058936	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	missense	SNP	0.981	A
ANKLE2	23141	genome.wustl.edu	37	12	133306407	133306407	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:133306407C>T	ENST00000357997.5	-	11	2430	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N	ANKLE2_ENST00000542282.1_Missense_Mutation_p.D136N|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542657.1_Missense_Mutation_p.D136N|ANKLE2_ENST00000539605.1_Missense_Mutation_p.D719N	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	781					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CCGAGTTGGTCTGCGGGAGAA	0.483																																																	0													132.0	129.0	130.0					12																	133306407		2013	4176	6189	SO:0001583	missense	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2341G>A	12.37:g.133306407C>T	ENSP00000350686:p.Asp781Asn		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM	p.D781N	ENST00000357997.5	37	c.2341	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	C	8.478	0.859128	0.17178	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.42900	1.96;1.96;0.96;0.96;0.96	3.55	2.61	0.31194	.	1.350460	0.04067	N	0.307364	T	0.36908	0.0984	L	0.47716	1.5	0.27044	N	0.963931	B	0.18741	0.03	B	0.15052	0.012	T	0.29518	-1.0009	10	0.07813	T	0.8	-10.3565	10.9062	0.47081	0.0:0.8085:0.1915:0.0	.	781	Q86XL3	ANKL2_HUMAN	N	719;781;136;136;136	ENSP00000446268:D719N;ENSP00000350686:D781N;ENSP00000437807:D136N;ENSP00000438551:D136N;ENSP00000445760:D136N	ENSP00000350686:D781N	D	-	1	0	ANKLE2	131816480	0.016000	0.18221	0.005000	0.12908	0.018000	0.09664	1.711000	0.37930	0.760000	0.33108	0.645000	0.84053	GAC	ANKLE2	-	NULL		0.483	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	C			133306407	-1	no_errors	ENST00000357997	ensembl	human	known	70_37	missense	SNP	0.029	T
AP2A2	161	genome.wustl.edu	37	11	1008096	1008096	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:1008096C>G	ENST00000448903.2	+	18	2522	c.2381C>G	c.(2380-2382)tCc>tGc	p.S794C	AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.S795C	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	794					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAGTGCGTGTCCGACTTCACG	0.652																																																	0													31.0	37.0	35.0					11																	1008096		2075	4182	6257	SO:0001583	missense	161			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.2381C>G	11.37:g.1008096C>G	ENSP00000413234:p.Ser794Cys		O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.S795C	ENST00000448903.2	37	c.2384	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020433	0.35606	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.46819	0.86;0.86	4.12	2.07	0.26955	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.423937	0.24251	N	0.040172	T	0.39436	0.1078	L	0.52573	1.65	0.09310	N	0.999998	B	0.06786	0.001	B	0.08055	0.003	T	0.36962	-0.9726	10	0.59425	D	0.04	-25.6687	9.3511	0.38138	0.1535:0.5491:0.2974:0.0	.	794	O94973	AP2A2_HUMAN	C	794;795;531;534	ENSP00000413234:S794C;ENSP00000327694:S795C	ENSP00000327694:S795C	S	+	2	0	AP2A2	998096	0.000000	0.05858	0.042000	0.18584	0.579000	0.36224	1.084000	0.30828	0.404000	0.25506	0.185000	0.17295	TCC	AP2A2	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu		0.652	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2	C	NM_012305		1008096	+1	no_errors	ENST00000332231	ensembl	human	known	70_37	missense	SNP	0.044	G
APEX1	328	genome.wustl.edu	37	14	20925478	20925478	+	Silent	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:20925478C>G	ENST00000216714.3	+	5	1036	c.768C>G	c.(766-768)ctC>ctG	p.L256L	APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000556252.1_5'Flank|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000555414.1_Silent_p.L256L|APEX1_ENST00000398030.4_Silent_p.L256L	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	256					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TTAGGCACCTCTACCCCAACA	0.502								Other BER factors																																									0													189.0	161.0	170.0					14																	20925478		2203	4300	6503	SO:0001819	synonymous_variant	328			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.768C>G	14.37:g.20925478C>G			Q969L5|Q99775	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	p.L256	ENST00000216714.3	37	c.768	CCDS9550.1	14																																																																																			APEX1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III		0.502	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX1	HGNC	protein_coding	OTTHUMT00000073641.3	C	NM_001641		20925478	+1	no_errors	ENST00000216714	ensembl	human	known	70_37	silent	SNP	0.635	G
APOC1	341	genome.wustl.edu	37	19	45419568	45419568	+	Silent	SNP	T	T	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:45419568T>C	ENST00000588750.1	+	4	505	c.180T>C	c.(178-180)ctT>ctC	p.L60L	APOC1_ENST00000252491.4_Silent_p.L60L|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000586638.1_Silent_p.L60L|APOC1_ENST00000588802.1_Silent_p.L60L|APOC1_ENST00000592885.1_Silent_p.L60L			P02654	APOC1_HUMAN	apolipoprotein C-I	60					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		AGAGTGAACTTTCTGCCAAGA	0.537																																																	0													92.0	83.0	86.0					19																	45419568		2203	4300	6503	SO:0001819	synonymous_variant	341			X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"""Apolipoproteins"""	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		ENST00000588750.1:c.180T>C	19.37:g.45419568T>C			B2R526|Q6IB97	Silent	SNP	pfam_ApoC-I	p.L60	ENST00000588750.1	37	c.180	CCDS12648.1	19																																																																																			APOC1	-	pfam_ApoC-I		0.537	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOC1	HGNC	protein_coding	OTTHUMT00000453245.1	T			45419568	+1	no_errors	ENST00000252491	ensembl	human	known	70_37	silent	SNP	0.000	C
ARHGAP35	2909	genome.wustl.edu	37	19	47425167	47425167	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:47425167C>G	ENST00000404338.3	+	1	3235	c.3235C>G	c.(3235-3237)Cag>Gag	p.Q1079E		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1079					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.Q1079*(2)									CTGGCTGCCTCAGGATGGGTT	0.478																																																	2	Substitution - Nonsense(2)	urinary_tract(2)											42.0	41.0	41.0					19																	47425167		1971	4151	6122	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3235C>G	19.37:g.47425167C>G	ENSP00000385720:p.Gln1079Glu		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q1079E	ENST00000404338.3	37	c.3235	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	0.484	-0.878408	0.02550	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.06218	3.33	5.76	4.66	0.58398	.	0.509560	0.22575	N	0.058295	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34054	-0.9844	10	0.42905	T	0.14	-3.1737	5.7691	0.18243	0.1329:0.6408:0.1442:0.0821	.	1079	Q9NRY4-2	.	E	1079	ENSP00000385720:Q1079E	ENSP00000324820:Q1079E	Q	+	1	0	ARHGAP35	52117007	0.000000	0.05858	0.956000	0.39512	0.995000	0.86356	0.187000	0.16998	2.726000	0.93360	0.655000	0.94253	CAG	ARHGAP35	-	NULL		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	C	NM_004491		47425167	+1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	0.047	G
ARHGEF9	23229	genome.wustl.edu	37	X	62944444	62944444	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:62944444C>T	ENST00000253401.6	-	2	957	c.157G>A	c.(157-159)Gag>Aag	p.E53K	ARHGEF9_ENST00000437457.2_Intron|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E51K|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E32K|ARHGEF9_ENST00000374870.4_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	53	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|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)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CATCCCTCCTCATCGTCGATC	0.547																																																	0													140.0	90.0	107.0					X																	62944444		2203	4300	6503	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.157G>A	X.37:g.62944444C>T	ENSP00000253401:p.Glu53Lys		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E53K	ENST00000253401.6	37	c.157	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330506	0.24167	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000374872	T;T;T	0.42513	0.97;0.97;0.97	5.55	4.68	0.58851	Src homology-3 domain (3);Variant SH3 (1);	0.073124	0.53938	D	0.000043	T	0.16514	0.0397	N	0.01771	-0.73	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.17098	0.017;0.017	T	0.17379	-1.0371	10	0.02654	T	1	.	13.5359	0.61646	0.1572:0.8428:0.0:0.0	.	51;53	B1AMR4;O43307	.;ARHG9_HUMAN	K	53;51;32	ENSP00000253401:E53K;ENSP00000364012:E51K;ENSP00000364006:E32K	ENSP00000253401:E53K	E	-	1	0	ARHGEF9	62861169	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.664000	0.61540	1.083000	0.41159	-0.300000	0.09419	GAG	ARHGEF9	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.547	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	C			62944444	-1	no_errors	ENST00000253401	ensembl	human	known	70_37	missense	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27092778	27092778	+	Silent	SNP	G	G	A	rs374337987		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:27092778G>A	ENST00000324856.7	+	9	3170	c.2799G>A	c.(2797-2799)ggG>ggA	p.G933G	ARID1A_ENST00000374152.2_Silent_p.G550G|ARID1A_ENST00000457599.2_Silent_p.G933G|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	933					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGGACAAGGGATTAATAGTA	0.498			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													103.0	101.0	102.0					1																	27092778		2203	4300	6503	SO:0001819	synonymous_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2799G>A	1.37:g.27092778G>A			D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G933	ENST00000324856.7	37	c.2799	CCDS285.1	1																																																																																			ARID1A	-	NULL		0.498	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27092778	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	silent	SNP	0.980	A
ASAH2	56624	genome.wustl.edu	37	10	52005193	52005193	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:52005193G>A	ENST00000395526.4	-	2	148	c.149C>T	c.(148-150)tCa>tTa	p.S50L	ASAH2_ENST00000329428.6_Missense_Mutation_p.S31L|ASAH2_ENST00000447815.1_Missense_Mutation_p.S50L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	50					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						TTGGGTGGTTGAAAAAAAATG	0.473																																																	0													40.0	48.0	45.0					10																	52005193		2203	4300	6503	SO:0001583	missense	56624			AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.149C>T	10.37:g.52005193G>A	ENSP00000378897:p.Ser50Leu		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	pfam_Ceramidase_alk	p.S50L	ENST00000395526.4	37	c.149	CCDS7239.2	10	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458120	0.26161	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.32023	1.47;1.48;1.49	5.28	2.26	0.28386	.	2.522110	0.01425	N	0.014507	T	0.19446	0.0467	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17623	-1.0363	10	0.38643	T	0.18	.	8.3209	0.32128	0.2813:0.0:0.7187:0.0	.	50;50	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	L	50;50;31	ENSP00000378897:S50L;ENSP00000388206:S50L;ENSP00000329886:S31L	ENSP00000329886:S31L	S	-	2	0	ASAH2	51675199	0.001000	0.12720	0.001000	0.08648	0.040000	0.13550	0.882000	0.28186	0.806000	0.34183	0.655000	0.94253	TCA	ASAH2	-	NULL		0.473	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH2	HGNC	protein_coding	OTTHUMT00000048061.3	G	NM_019893		52005193	-1	no_errors	ENST00000395526	ensembl	human	known	70_37	missense	SNP	0.000	A
ATP6AP1L	92270	genome.wustl.edu	37	5	81614027	81614027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:81614027C>T	ENST00000380167.4	+	10	1908	c.583C>T	c.(583-585)Cga>Tga	p.R195*	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Nonsense_Mutation_p.R195*			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	195					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						GCTGAAAGCTCGAGACACAGC	0.522																																																	0													57.0	63.0	61.0					5																	81614027		2203	4300	6503	SO:0001587	stop_gained	92270			AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.583C>T	5.37:g.81614027C>T	ENSP00000369513:p.Arg195*			Nonsense_Mutation	SNP	NULL	p.R195*	ENST00000380167.4	37	c.583	CCDS34196.1	5	.	.	.	.	.	.	.	.	.	.	C	43	10.075304	0.99331	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.54	-1.07	0.09968	.	1.118370	0.06827	N	0.793225	.	.	.	.	.	.	0.53688	D	0.999974	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	0.1816	0.00124	0.2624:0.2772:0.1925:0.268	.	.	.	.	X	195	.	ENSP00000369513:R195X	R	+	1	2	ATP6AP1L	81649783	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.939000	0.03933	-0.248000	0.09583	-0.251000	0.11542	CGA	ATP6AP1L	-	NULL		0.522	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1L	HGNC	protein_coding	OTTHUMT00000369562.3	C	NM_001017971		81614027	+1	no_errors	ENST00000380167	ensembl	human	known	70_37	nonsense	SNP	0.000	T
ATRN	8455	genome.wustl.edu	37	20	3605170	3605170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:3605170C>T	ENST00000262919.5	+	25	3882	c.3814C>T	c.(3814-3816)Cag>Tag	p.Q1272*		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1272					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCCTTCTCTCAGCACAGCAA	0.403																																																	0													307.0	269.0	282.0					20																	3605170		2203	4300	6503	SO:0001587	stop_gained	8455			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3814C>T	20.37:g.3605170C>T	ENSP00000262919:p.Gln1272*		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.Q1272*	ENST00000262919.5	37	c.3814	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	C	43	10.002259	0.99314	.	.	ENSG00000088812	ENST00000262919	.	.	.	5.37	4.43	0.53597	.	0.056763	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.7056	11.2771	0.49174	0.0:0.9138:0.0:0.0862	.	.	.	.	X	1272	.	ENSP00000262919:Q1272X	Q	+	1	0	ATRN	3553170	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.943000	0.75934	1.269000	0.44280	0.655000	0.94253	CAG	ATRN	-	NULL		0.403	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	C	NM_139321		3605170	+1	no_errors	ENST00000262919	ensembl	human	known	70_37	nonsense	SNP	1.000	T
BAIAP2L1	55971	genome.wustl.edu	37	7	97939870	97939870	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:97939870G>A	ENST00000005260.8	-	9	1057	c.842C>T	c.(841-843)tCa>tTa	p.S281L	RP4-607J23.2_ENST00000609873.1_RNA|RP4-607J23.2_ENST00000608882.1_RNA|BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	281					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CATCTTTGGTGAGCATTTAGA	0.438																																																	0													95.0	101.0	99.0					7																	97939870		2203	4300	6503	SO:0001583	missense	55971			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.842C>T	7.37:g.97939870G>A	ENSP00000005260:p.Ser281Leu		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S281L	ENST00000005260.8	37	c.842	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245791	0.59103	.	.	ENSG00000006453	ENST00000005260	T	0.22539	1.95	5.5	5.5	0.81552	.	0.817273	0.11439	N	0.564032	T	0.27278	0.0669	L	0.60455	1.87	0.35774	D	0.821103	B	0.06786	0.001	B	0.06405	0.002	T	0.17992	-1.0351	10	0.28530	T	0.3	-18.7267	18.3824	0.90455	0.0:0.0:1.0:0.0	.	281	Q9UHR4	BI2L1_HUMAN	L	281	ENSP00000005260:S281L	ENSP00000005260:S281L	S	-	2	0	AC093799.1	97777806	0.199000	0.23386	0.868000	0.34077	0.910000	0.53928	2.855000	0.48333	2.587000	0.87381	0.655000	0.94253	TCA	BAIAP2L1	-	NULL		0.438	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	HGNC	protein_coding	OTTHUMT00000334681.1	G	NM_018842		97939870	-1	no_errors	ENST00000005260	ensembl	human	known	70_37	missense	SNP	0.973	A
BANK1	55024	genome.wustl.edu	37	4	102946642	102946642	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:102946642G>A	ENST00000322953.4	+	9	1844	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	BANK1_ENST00000508653.1_Missense_Mutation_p.E391K|BANK1_ENST00000428908.1_Missense_Mutation_p.E391K|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000444316.2_Missense_Mutation_p.E494K|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000504592.1_Missense_Mutation_p.E509K	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	524					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTTCCAACTGGAAAGACCTCA	0.443																																																	0													53.0	54.0	54.0					4																	102946642		2203	4300	6503	SO:0001583	missense	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1570G>A	4.37:g.102946642G>A	ENSP00000320509:p.Glu524Lys		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.E524K	ENST00000322953.4	37	c.1570	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166761	0.57476	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	4.8	3.95	0.45737	.	1.045680	0.07549	N	0.915110	T	0.38188	0.1031	N	0.19112	0.55	0.19300	N	0.999977	B;B;B	0.25563	0.129;0.129;0.129	B;B;B	0.30572	0.117;0.067;0.067	T	0.30880	-0.9963	10	0.62326	D	0.03	.	10.7147	0.46005	0.0907:0.0:0.9093:0.0	.	391;524;509	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	K	509;524;391;391;494	ENSP00000421443:E509K;ENSP00000320509:E524K;ENSP00000412748:E391K;ENSP00000422314:E391K;ENSP00000388817:E494K	ENSP00000320509:E524K	E	+	1	0	BANK1	103165665	0.261000	0.24063	0.105000	0.21289	0.138000	0.21146	1.335000	0.33839	2.222000	0.72286	0.591000	0.81541	GAA	BANK1	-	NULL		0.443	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	G	NM_017935		102946642	+1	no_errors	ENST00000322953	ensembl	human	known	70_37	missense	SNP	0.300	A
BCKDHA	593	genome.wustl.edu	37	19	41916713	41916713	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:41916713G>C	ENST00000269980.2	+	2	648	c.280G>C	c.(280-282)Gac>Cac	p.D94H	BCKDHA_ENST00000595085.1_Missense_Mutation_p.D128H|BCKDHA_ENST00000457836.2_Missense_Mutation_p.D72H|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.D128H|CTC-435M10.3_ENST00000604424.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	94					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCCCAGCGAGGACCCCCACGT	0.607																																																	0													57.0	60.0	59.0					19																	41916713		2203	4300	6503	SO:0001583	missense	593			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.280G>C	19.37:g.41916713G>C	ENSP00000269980:p.Asp94His		B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase_N	p.D128H	ENST00000269980.2	37	c.382	CCDS12581.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.178596|4.178596	0.78564|0.78564	.|.	.|.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098|ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196|ENST00000541315	D;D;D;D|.	0.99113|.	-5.44;-5.44;-5.43;-5.44|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70771|0.70771	0.3262|0.3262	L|L	0.53671|0.53671	1.685|1.685	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.89917|.	1.0;0.628;1.0;0.775|.	D;B;D;B|.	0.71414|.	0.973;0.078;0.951;0.291|.	T|T	0.67692|0.67692	-0.5605|-0.5605	10|5	0.66056|.	D|.	0.02|.	-28.9368|-28.9368	17.984|17.984	0.89151|0.89151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	72;94;94;128|.	B4DP47;Q59EI3;P12694;F5H5P2|.	.;.;ODBA_HUMAN;.|.	H|S	128;94;94;72;94|29	ENSP00000443246:D128H;ENSP00000269980:D94H;ENSP00000440345:D94H;ENSP00000416000:D72H|.	ENSP00000269980:D94H|.	D|R	+|+	1|3	0|2	BCKDHA;CTC-435M10.3|BCKDHA	46608553|46608553	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.976000|0.976000	0.68499|0.68499	7.462000|7.462000	0.80851|0.80851	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GAC|AGG	BCKDHA	-	NULL		0.607	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	HGNC	protein_coding	OTTHUMT00000398313.3	G	NM_000709		41916713	+1	no_errors	ENST00000595085	ensembl	human	known	70_37	missense	SNP	1.000	C
BCL9	607	genome.wustl.edu	37	1	147086292	147086292	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:147086292C>G	ENST00000234739.3	+	6	1177	c.437C>G	c.(436-438)tCa>tGa	p.S146*	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	146					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGACCCCATCAAATGCTACA	0.498			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													125.0	127.0	127.0					1																	147086292		2203	4300	6503	SO:0001587	stop_gained	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.437C>G	1.37:g.147086292C>G	ENSP00000234739:p.Ser146*		Q5T489	Nonsense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.S146*	ENST00000234739.3	37	c.437	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	44	10.692629	0.99451	.	.	ENSG00000116128	ENST00000234739	.	.	.	5.55	5.55	0.83447	.	0.125315	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-16.7066	19.6982	0.96039	0.0:1.0:0.0:0.0	.	.	.	.	X	146	.	ENSP00000234739:S146X	S	+	2	0	BCL9	145552916	1.000000	0.71417	0.558000	0.28319	0.990000	0.78478	6.831000	0.75324	2.894000	0.99253	0.655000	0.94253	TCA	BCL9	-	NULL		0.498	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	C	NM_004326		147086292	+1	no_errors	ENST00000234739	ensembl	human	known	70_37	nonsense	SNP	0.997	G
BCR	613	genome.wustl.edu	37	22	23637246	23637246	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:23637246G>A	ENST00000305877.8	+	16	3667	c.2916G>A	c.(2914-2916)ctG>ctA	p.L972L	BCR_ENST00000359540.3_Intron	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	972	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCCAGACCCTGAGGATACTGT	0.542			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													112.0	102.0	105.0					22																	23637246		2203	4300	6503	SO:0001819	synonymous_variant	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2916G>A	22.37:g.23637246G>A			P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.L972	ENST00000305877.8	37	c.2916	CCDS13806.1	22																																																																																			BCR	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.542	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	G	NM_004327		23637246	+1	no_errors	ENST00000305877	ensembl	human	known	70_37	silent	SNP	1.000	A
BIN2	51411	genome.wustl.edu	37	12	51686023	51686023	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:51686023C>T	ENST00000267012.4	-	10	928	c.867G>A	c.(865-867)gaG>gaA	p.E289E	BIN2_ENST00000604560.1_Silent_p.E262E|BIN2_ENST00000452142.2_Silent_p.E257E|BIN2_ENST00000544402.1_Silent_p.E263E	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	289					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CAGATTCACTCTCACTCTTCA	0.488																																																	0													73.0	73.0	73.0					12																	51686023		2203	4300	6503	SO:0001819	synonymous_variant	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.867G>A	12.37:g.51686023C>T			Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.E289	ENST00000267012.4	37	c.867	CCDS8811.1	12																																																																																			BIN2	-	NULL		0.488	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	HGNC	protein_coding	OTTHUMT00000469800.1	C			51686023	-1	no_errors	ENST00000267012	ensembl	human	known	70_37	silent	SNP	0.059	T
BMP4	652	genome.wustl.edu	37	14	54418628	54418628	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:54418628C>G	ENST00000245451.4	-	3	706	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	BMP4_ENST00000558984.1_Missense_Mutation_p.E105Q|BMP4_ENST00000417573.1_Missense_Mutation_p.E105Q|BMP4_ENST00000559087.1_Missense_Mutation_p.E105Q	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	105					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TCAGGATACTCAAGACCAGTG	0.622																																																	0													66.0	73.0	71.0					14																	54418628		2203	4300	6503	SO:0001583	missense	652			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.313G>C	14.37:g.54418628C>G	ENSP00000245451:p.Glu105Gln		Q9UM80	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.E105Q	ENST00000245451.4	37	c.313	CCDS9715.1	14	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412778	0.25465	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.65178	-0.14;-0.14	5.31	5.31	0.75309	Transforming growth factor-beta, N-terminal (1);	0.110266	0.64402	D	0.000011	T	0.41971	0.1182	N	0.08118	0	0.53005	D	0.999961	B	0.17038	0.02	B	0.16722	0.016	T	0.28427	-1.0044	10	0.23891	T	0.37	.	14.4347	0.67272	0.0:0.8412:0.1588:0.0	.	105	P12644	BMP4_HUMAN	Q	105	ENSP00000245451:E105Q;ENSP00000394165:E105Q	ENSP00000245451:E105Q	E	-	1	0	BMP4	53488378	1.000000	0.71417	0.986000	0.45419	0.387000	0.30353	3.248000	0.51430	2.763000	0.94921	0.563000	0.77884	GAG	BMP4	-	pfam_TGF-b_N		0.622	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP4	HGNC	protein_coding	OTTHUMT00000276894.2	C	NM_001202		54418628	-1	no_errors	ENST00000245451	ensembl	human	known	70_37	missense	SNP	1.000	G
BSG	682	genome.wustl.edu	37	19	572634	572634	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:572634C>A	ENST00000333511.3	+	0	70				BSG_ENST00000545507.2_Intron|AC009005.2_ENST00000588290.1_RNA|AC009005.2_ENST00000590292.1_RNA|BSG_ENST00000353555.4_De_novo_Start_InFrame|AC009005.2_ENST00000588908.1_RNA|BSG_ENST00000346916.4_Intron|AC009005.2_ENST00000589457.1_RNA	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)						blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAATAGGAATCATGGCGGCTG	0.726																																																	0													18.0	19.0	19.0					19																	572634		2124	4213	6337			682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613			19.37:g.572634C>A			A6NJW1|D3YLG5|Q7Z796|Q8IZL7	RNA	SNP	-	NULL	ENST00000333511.3	37	NULL	CCDS12033.1	19																																																																																			BSG	-	-		0.726	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	C	NM_001728		572634	+1	no_errors	ENST00000590218	ensembl	human	known	70_37	rna	SNP	0.007	A
BSN	8927	genome.wustl.edu	37	3	49691094	49691094	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:49691094G>A	ENST00000296452.4	+	5	4219	c.4105G>A	c.(4105-4107)Gag>Aag	p.E1369K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1369					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCCTCCAAGGAGATAGGCAT	0.597																																																	0													63.0	61.0	61.0					3																	49691094		2203	4298	6501	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4105G>A	3.37:g.49691094G>A	ENSP00000296452:p.Glu1369Lys		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.E1369K	ENST00000296452.4	37	c.4105	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	9.925	1.213134	0.22289	.	.	ENSG00000164061	ENST00000296452	T	0.17370	2.28	5.25	4.36	0.52297	.	0.304232	0.28225	N	0.016122	T	0.09247	0.0228	N	0.22421	0.69	0.29842	N	0.829134	B	0.27068	0.167	B	0.19148	0.024	T	0.20140	-1.0284	10	0.17832	T	0.49	.	6.8499	0.24008	0.144:0.2822:0.5738:0.0	.	1369	Q9UPA5	BSN_HUMAN	K	1369	ENSP00000296452:E1369K	ENSP00000296452:E1369K	E	+	1	0	BSN	49666098	1.000000	0.71417	0.995000	0.50966	0.071000	0.16799	2.406000	0.44557	1.198000	0.43158	0.462000	0.41574	GAG	BSN	-	NULL		0.597	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49691094	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.731	A
C10orf131	100127889	genome.wustl.edu	37	10	97684091	97684091	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:97684091C>G	ENST00000423344.2	+	5	290	c.94C>G	c.(94-96)Caa>Gaa	p.Q32E	RP11-248J23.7_ENST00000491114.1_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001130446.2	NP_001123918.2	A6NCD4	CJ131_HUMAN	chromosome 10 open reading frame 131	28								p.Q32K(1)|p.Q28K(1)		endometrium(1)|kidney(1)	2						AGAAGAAAATCAAAATGTAGC	0.254																																																	2	Substitution - Missense(2)	kidney(2)											74.0	69.0	70.0					10																	97684091		692	1585	2277	SO:0001583	missense	100127889				CCDS58090.1	10q24.1	2012-05-30			ENSG00000173088	ENSG00000173088			31667	protein-coding gene	gene with protein product							Standard	NM_001130446		Approved	bA690P14.3	uc010qoo.2	A6NCD4	OTTHUMG00000018824	ENST00000423344.2:c.94C>G	10.37:g.97684091C>G	ENSP00000411850:p.Gln32Glu		B1AMZ2|B4DG41	Missense_Mutation	SNP	NULL	p.Q28E	ENST00000423344.2	37	c.82	CCDS58090.1	10	.	.	.	.	.	.	.	.	.	.	C	4.962	0.178695	0.09443	.	.	ENSG00000173088	ENST00000371202;ENST00000423344	.	.	.	4.53	1.53	0.23141	.	1.080370	0.07199	N	0.857107	T	0.44244	0.1284	L	0.56769	1.78	0.21020	N	0.999804	B	0.02656	0.0	B	0.08055	0.003	T	0.39761	-0.9598	9	0.56958	D	0.05	.	7.4531	0.27250	0.3401:0.4954:0.1645:0.0	.	32	B4DG41	.	E	28;32	.	ENSP00000360245:Q28E	Q	+	1	0	C10orf131	97674081	0.999000	0.42202	0.605000	0.28930	0.010000	0.07245	0.615000	0.24329	0.102000	0.17638	-1.131000	0.01979	CAA	C10orf131	-	NULL		0.254	C10orf131-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf131	HGNC	protein_coding	OTTHUMT00000468148.1	C	NM_001098847		97684091	+1	no_errors	ENST00000371202	ensembl	human	known	70_37	missense	SNP	0.961	G
C10orf2	56652	genome.wustl.edu	37	10	102753198	102753198	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:102753198G>A	ENST00000311916.2	+	5	2171	c.1986G>A	c.(1984-1986)caG>caA	p.Q662Q	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	662					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTACGACACAGAACTCTGAGA	0.557																																																	0													61.0	67.0	65.0					10																	102753198		2203	4300	6503	SO:0001819	synonymous_variant	56652			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1986G>A	10.37:g.102753198G>A			B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Silent	SNP	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	p.Q662	ENST00000311916.2	37	c.1986	CCDS7506.1	10																																																																																			C10orf2	-	NULL		0.557	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1	G	NM_021830		102753198	+1	no_errors	ENST00000311916	ensembl	human	known	70_37	silent	SNP	0.955	A
CFAP54	144535	genome.wustl.edu	37	12	97051825	97051825	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:97051825C>G	ENST00000524981.4	+	37	5289	c.5266C>G	c.(5266-5268)Caa>Gaa	p.Q1756E				Q96N23	CL055_HUMAN		0																	AGTTTTATATCAAGTGGAAAA	0.353																																																	0													83.0	89.0	87.0					12																	97051825		2203	4300	6503	SO:0001583	missense	144535																														ENST00000524981.4:c.5266C>G	12.37:g.97051825C>G	ENSP00000431759:p.Gln1756Glu			Missense_Mutation	SNP	NULL	p.Q181E	ENST00000524981.4	37	c.541		12	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542425	0.45280	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.04	4.09	0.47781	.	0.123730	0.37053	N	0.002277	T	0.41926	0.1180	L	0.50333	1.59	0.27093	N	0.962809	P	0.49783	0.928	P	0.47673	0.554	T	0.28364	-1.0046	9	0.22706	T	0.39	-12.2858	13.2638	0.60122	0.2714:0.7286:0.0:0.0	.	181	Q6ZTY8	CL063_HUMAN	E	1756;181	.	ENSP00000345466:Q181E	Q	+	1	0	C12orf63	95575956	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.360000	0.34125	2.504000	0.84457	0.462000	0.41574	CAA	C12orf55	-	NULL		0.353	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97051825	+1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	1.000	G
C14orf166	51637	genome.wustl.edu	37	14	52458093	52458093	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:52458093C>G	ENST00000261700.3	+	2	285	c.120C>G	c.(118-120)taC>taG	p.Y40*	C14orf166_ENST00000556760.1_Nonsense_Mutation_p.Y40*	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	40					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					TCAGGCACTACAAGATTGAAG	0.348																																																	0													77.0	77.0	77.0					14																	52458093		2203	4300	6503	SO:0001587	stop_gained	51637			AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302			23169	protein-coding gene	gene with protein product	"""RLL motif containing 1"""	610858				10810093, 24608264	Standard	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	ENST00000261700.3:c.120C>G	14.37:g.52458093C>G	ENSP00000261700:p.Tyr40*			Nonsense_Mutation	SNP	pfam_UPF0568	p.Y40*	ENST00000261700.3	37	c.120	CCDS9705.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.923703	0.97110	.	.	ENSG00000087302	ENST00000261700;ENST00000556760	.	.	.	4.89	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6026	9.5698	0.39420	0.0:0.8363:0.0:0.1637	.	.	.	.	X	40	.	ENSP00000261700:Y40X	Y	+	3	2	C14orf166	51527843	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.012000	0.49575	1.199000	0.43173	0.484000	0.47621	TAC	C14orf166	-	pfam_UPF0568		0.348	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166	HGNC	protein_coding	OTTHUMT00000276887.1	C	NM_016039		52458093	+1	no_errors	ENST00000261700	ensembl	human	known	70_37	nonsense	SNP	1.000	G
C17orf59	54785	genome.wustl.edu	37	17	8093446	8093446	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:8093446G>A	ENST00000389017.4	-	1	118	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	5										large_intestine(2)|lung(3)|urinary_tract(1)	6						GGCCGCCCCCGAGACGACTCC	0.697																																																	0													1.0	2.0	2.0					17																	8093446		419	1095	1514	SO:0001583	missense	54785			BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.13C>T	17.37:g.8093446G>A	ENSP00000373669:p.Arg5Trp		Q53HS4|Q9NXW8	Missense_Mutation	SNP	pfam_DUF2365	p.R5W	ENST00000389017.4	37	c.13	CCDS11133.2	17	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917485	0.73098	.	.	ENSG00000196544	ENST00000389017	.	.	.	5.82	3.83	0.44106	.	0.453863	0.17421	N	0.174834	T	0.30070	0.0753	L	0.29908	0.895	0.21933	N	0.999464	B	0.13145	0.007	B	0.08055	0.003	T	0.25012	-1.0144	9	0.87932	D	0	-4.9802	8.1224	0.30978	0.0853:0.17:0.7447:0.0	.	5	Q96GS4	CQ059_HUMAN	W	5	.	ENSP00000373669:R5W	R	-	1	2	C17orf59	8034171	0.345000	0.24835	0.992000	0.48379	0.959000	0.62525	1.137000	0.31479	0.799000	0.34018	-0.258000	0.10820	CGG	C17orf59	-	NULL		0.697	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf59	HGNC	protein_coding	OTTHUMT00000333072.1	G	NM_017622		8093446	-1	no_errors	ENST00000389017	ensembl	human	known	70_37	missense	SNP	0.969	A
C21orf58	54058	genome.wustl.edu	37	21	47734872	47734872	+	Intron	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:47734872C>G	ENST00000291691.7	-	5	1581				C21orf58_ENST00000397683.1_Missense_Mutation_p.E17Q|C21orf58_ENST00000397680.1_Missense_Mutation_p.E17Q|C21orf58_ENST00000397679.1_Missense_Mutation_p.E17Q|C21orf58_ENST00000397682.3_Missense_Mutation_p.E17Q|C21orf58_ENST00000397685.4_Nonstop_Mutation_p.*96S	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCATCAGGCTCAGGCCAGCCT	0.642																																																	0																																										SO:0001627	intron_variant	54058				CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.445-78G>C	21.37:g.47734872C>G			B3KPI1	Missense_Mutation	SNP	NULL	p.E17Q	ENST00000291691.7	37	c.49	CCDS13735.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.622|5.622	0.299524|0.299524	0.10622|0.10622	.|.	.|.	ENSG00000160298|ENSG00000160298	ENST00000397683;ENST00000397682;ENST00000397679;ENST00000397680;ENST00000445935|ENST00000397685	T;T;T;T|.	0.50813|.	0.73;0.73;0.73;0.73|.	2.65|2.65	0.596|0.596	0.17496|0.17496	.|.	.|.	.|.	.|.	.|.	T|.	0.23572|.	0.0570|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.21606|.	0.058|.	B|.	0.11329|.	0.006|.	T|.	0.23833|.	-1.0177|.	8|.	0.20046|.	T|.	0.44|.	.|.	3.9757|3.9757	0.09473|0.09473	0.0:0.5387:0.3003:0.161|0.0:0.5387:0.3003:0.161	.|.	17|.	Q8N7N9|.	.|.	Q|S	17|96	ENSP00000380799:E17Q;ENSP00000380798:E17Q;ENSP00000380796:E17Q;ENSP00000380797:E17Q|.	ENSP00000380796:E17Q|.	E|X	-|-	1|2	0|2	C21orf58|C21orf58	46559300|46559300	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.984000|-0.984000	0.03755|0.03755	0.008000|0.008000	0.14787|0.14787	0.563000|0.563000	0.77884|0.77884	GAG|TGA	C21orf58	-	NULL		0.642	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf58	HGNC	protein_coding	OTTHUMT00000207283.1	C	NM_058180		47734872	-1	no_errors	ENST00000397679	ensembl	human	novel	70_37	missense	SNP	0.000	G
C2CD4D	100191040	genome.wustl.edu	37	1	151810551	151810551	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:151810551C>T	ENST00000454109.1	-	2	1500	c.915G>A	c.(913-915)ctG>ctA	p.L305L		NM_001136003.1	NP_001129475.1	B7Z1M9	C2D4D_HUMAN	C2 calcium-dependent domain containing 4D	305	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.									skin(1)	1						CCTTGGCTCTCAGGCTGCGGG	0.682																																																	0													20.0	27.0	25.0					1																	151810551		691	1591	2282	SO:0001819	synonymous_variant	100191040			BC171843	CCDS44224.1	1q21.3	2012-07-02			ENSG00000225556	ENSG00000225556			37210	protein-coding gene	gene with protein product	"""family with sequence similarity 148, member D"""						Standard	NM_001136003		Approved	FAM148D	uc010pdq.1	B7Z1M9	OTTHUMG00000167218	ENST00000454109.1:c.915G>A	1.37:g.151810551C>T			B2RXG8	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L305	ENST00000454109.1	37	c.915	CCDS44224.1	1																																																																																			C2CD4D	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.682	C2CD4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD4D	HGNC	protein_coding	OTTHUMT00000393778.1	C	NM_001136003		151810551	-1	no_errors	ENST00000454109	ensembl	human	known	70_37	silent	SNP	1.000	T
C9orf106	414318	genome.wustl.edu	37	9	132084251	132084251	+	RNA	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:132084251C>T	ENST00000316786.1	+	0	212							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				cccttcccttcagtgcctctt	0.612																																																	0													64.0	65.0	64.0					9																	132084251		1944	4099	6043			414318			AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		9.37:g.132084251C>T				RNA	SNP	-	NULL	ENST00000316786.1	37	NULL		9																																																																																			C9orf106	-	-		0.612	C9orf106-001	KNOWN	basic	processed_transcript	C9orf106	HGNC	processed_transcript	OTTHUMT00000054576.2	C			132084251	+1	no_errors	ENST00000316786	ensembl	human	known	70_37	rna	SNP	0.000	T
CACNA1F	778	genome.wustl.edu	37	X	49088168	49088168	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:49088168G>A	ENST00000376265.2	-	2	308	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R83W|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	83					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGCAGGACCGTCGCAGAGGA	0.607																																																	0													96.0	75.0	82.0					X																	49088168		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.247C>T	X.37:g.49088168G>A	ENSP00000365441:p.Arg83Trp		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R83W	ENST00000376265.2	37	c.247	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641589	0.47153	.	.	ENSG00000102001	ENST00000323022;ENST00000376265	T;T	0.77229	-1.08;-1.08	5.15	3.05	0.35203	.	0.331114	0.27354	N	0.019750	D	0.84871	0.5568	M	0.87381	2.88	0.28554	N	0.911461	D;D	0.64830	0.994;0.99	P;P	0.53224	0.721;0.53	T	0.81357	-0.0969	9	.	.	.	.	12.9687	0.58499	0.0:0.0:0.6059:0.3941	.	83;83	F5CIQ9;O60840	.;CAC1F_HUMAN	W	83	ENSP00000321618:R83W;ENSP00000365441:R83W	.	R	-	1	2	CACNA1F	48975112	0.000000	0.05858	0.503000	0.27626	0.715000	0.41141	0.069000	0.14552	0.890000	0.36211	0.436000	0.28706	CGG	CACNA1F	-	NULL		0.607	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	G	NM_005183		49088168	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	missense	SNP	0.739	A
CACNA1H	8912	genome.wustl.edu	37	16	1258192	1258192	+	Missense_Mutation	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:1258192G>T	ENST00000348261.5	+	16	3582	c.3334G>T	c.(3334-3336)Gac>Tac	p.D1112Y	CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1112Y|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1112Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1112					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CAGCTCCGGGGACCCGCCACT	0.662																																																	0													4.0	6.0	5.0					16																	1258192		1790	3894	5684	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3334G>T	16.37:g.1258192G>T	ENSP00000334198:p.Asp1112Tyr		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.D1112Y	ENST00000348261.5	37	c.3334	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494087	0.26774	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.84944	-1.92;-1.92	4.05	4.05	0.47172	.	0.806941	0.11149	N	0.594299	D	0.84257	0.5432	M	0.61703	1.905	0.43084	D	0.994742	B;B	0.20459	0.045;0.008	B;B	0.18871	0.023;0.003	T	0.80236	-0.1466	10	0.46703	T	0.11	.	15.3821	0.74664	0.0:0.0:1.0:0.0	.	1112;1112	O95180-2;O95180	.;CAC1H_HUMAN	Y	1112	ENSP00000334198:D1112Y;ENSP00000351401:D1112Y	ENSP00000334198:D1112Y	D	+	1	0	CACNA1H	1198193	1.000000	0.71417	0.243000	0.24186	0.001000	0.01503	8.584000	0.90798	2.100000	0.63781	0.655000	0.94253	GAC	CACNA1H	-	NULL		0.662	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	G	NM_001005407		1258192	+1	no_errors	ENST00000348261	ensembl	human	known	70_37	missense	SNP	0.958	T
CAPN13	92291	genome.wustl.edu	37	2	30980990	30980990	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:30980990C>T	ENST00000295055.8	-	8	964	c.788G>A	c.(787-789)aGg>aAg	p.R263K	CAPN13_ENST00000534090.2_Missense_Mutation_p.R263K|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	263	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTCCCAGCCCCTTCGGTATTG	0.512																																																	0													34.0	38.0	36.0					2																	30980990		1844	4093	5937	SO:0001583	missense	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.788G>A	2.37:g.30980990C>T	ENSP00000295055:p.Arg263Lys		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R263K	ENST00000295055.8	37	c.788	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	C	1.218	-0.627781	0.03610	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.15017	2.46;2.46	4.86	-1.97	0.07503	Peptidase C2, calpain, catalytic domain (3);	0.933275	0.09214	N	0.832801	T	0.10981	0.0268	L	0.41492	1.28	0.09310	N	1	B	0.23249	0.082	B	0.21546	0.035	T	0.38178	-0.9673	10	0.44086	T	0.13	.	1.02	0.01516	0.1461:0.3029:0.2859:0.2651	.	263	Q6MZZ7	CAN13_HUMAN	K	263	ENSP00000295055:R263K;ENSP00000431298:R263K	ENSP00000295055:R263K	R	-	2	0	CAPN13	30834494	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.157000	0.10085	-0.120000	0.11809	-0.291000	0.09656	AGG	CAPN13	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.512	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	C	NM_144575		30980990	-1	no_errors	ENST00000295055	ensembl	human	known	70_37	missense	SNP	0.000	T
CAPRIN2	65981	genome.wustl.edu	37	12	30882050	30882050	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:30882050G>A	ENST00000395805.2	-	8	1861	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Silent_p.S438S|CAPRIN2_ENST00000251071.5_Silent_p.S438S|CAPRIN2_ENST00000308433.5_Silent_p.S105S|CAPRIN2_ENST00000417045.1_Silent_p.S438S	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTGTTCTAAGGAAACTGCAG	0.483																																																	0													126.0	119.0	122.0					12																	30882050		2203	4300	6503	SO:0001819	synonymous_variant	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1314C>T	12.37:g.30882050G>A				Silent	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.S438	ENST00000395805.2	37	c.1314	CCDS55816.1	12																																																																																			CAPRIN2	-	NULL		0.483	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	G	NM_023925		30882050	-1	no_errors	ENST00000251071	ensembl	human	known	70_37	silent	SNP	0.598	A
CASP8AP2	9994	genome.wustl.edu	37	6	90576285	90576285	+	RNA	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:90576285G>A	ENST00000551025.1	+	0	4713									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTAAGTCAGTGACTACCTTAC	0.294																																					Colon(187;1656 2025 17045 31481 39901)												0													28.0	26.0	27.0					6																	90576285		1802	4063	5865			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576285G>A				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-		0.294	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		G	NM_001137667		90576285	+1	no_errors	ENST00000237177	ensembl	human	known	70_37	rna	SNP	0.020	A
CASP8AP2	9994	genome.wustl.edu	37	6	90576585	90576585	+	RNA	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:90576585G>A	ENST00000551025.1	+	0	5013									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAGAATTGCTGAAAGAAAAAT	0.333																																					Colon(187;1656 2025 17045 31481 39901)												0													14.0	14.0	14.0					6																	90576585		1798	4059	5857			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576585G>A				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-		0.333	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		G	NM_001137667		90576585	+1	no_errors	ENST00000237177	ensembl	human	known	70_37	rna	SNP	0.020	A
CATSPERD	257062	genome.wustl.edu	37	19	5733954	5733954	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:5733954G>T	ENST00000381624.3	+	5	425	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	122					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TTATGATTATGAAAATAATTC	0.333																																																	0													110.0	108.0	109.0					19																	5733954		1833	4085	5918	SO:0001587	stop_gained	257062			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.364G>T	19.37:g.5733954G>T	ENSP00000371037:p.Glu122*		Q6ZRP1	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom	p.E122*	ENST00000381624.3	37	c.364	CCDS12149.2	19	.	.	.	.	.	.	.	.	.	.	g	19.54	3.846280	0.71603	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	.	.	.	4.37	-3.0	0.05480	.	1.147720	0.06910	U	0.807446	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	4.7849	0.13220	0.5227:0.1626:0.3147:0.0	.	.	.	.	X	48;122	.	ENSP00000371037:E122X	E	+	1	0	TMEM146	5684954	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.109000	0.10840	-0.773000	0.04596	-0.156000	0.13503	GAA	CATSPERD	-	superfamily_WD40_repeat_dom		0.333	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	G	NM_152784		5733954	+1	no_errors	ENST00000381624	ensembl	human	known	70_37	nonsense	SNP	0.000	T
CCDC160	347475	genome.wustl.edu	37	X	133379619	133379619	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:133379619G>A	ENST00000517294.1	+	3	1172	c.789G>A	c.(787-789)atG>atA	p.M263I	CCDC160_ENST00000370809.4_Missense_Mutation_p.M263I			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	263										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAGAAGAAATGAAATCATATT	0.373																																																	0													33.0	30.0	31.0					X																	133379619		1833	4065	5898	SO:0001583	missense	347475			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.789G>A	X.37:g.133379619G>A	ENSP00000427951:p.Met263Ile			Missense_Mutation	SNP	NULL	p.M263I	ENST00000517294.1	37	c.789	CCDS48171.1	X	.	.	.	.	.	.	.	.	.	.	G	4.092	0.014998	0.07959	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	D;D	0.90955	-2.76;-2.76	5.29	2.29	0.28610	.	0.200862	0.34959	N	0.003541	T	0.78984	0.4370	N	0.19112	0.55	0.25093	N	0.99084	B	0.16603	0.018	B	0.14578	0.011	T	0.65792	-0.6082	10	0.44086	T	0.13	-14.1595	2.2595	0.04063	0.1751:0.1503:0.5167:0.1578	.	263	A6NGH7	CC160_HUMAN	I	263	ENSP00000427951:M263I;ENSP00000359845:M263I	ENSP00000359845:M263I	M	+	3	0	CCDC160	133207285	1.000000	0.71417	0.915000	0.36163	0.025000	0.11179	1.540000	0.36115	0.509000	0.28195	0.513000	0.50165	ATG	CCDC160	-	NULL		0.373	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	G	NM_001101357		133379619	+1	no_errors	ENST00000370809	ensembl	human	known	70_37	missense	SNP	0.984	A
CCDC73	493860	genome.wustl.edu	37	11	32697502	32697502	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:32697502C>G	ENST00000335185.5	-	8	538	c.495G>C	c.(493-495)gaG>gaC	p.E165D	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	165										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CATAATATTTCTCAATTTCAC	0.284																																																	0													165.0	158.0	160.0					11																	32697502		1842	4075	5917	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.495G>C	11.37:g.32697502C>G	ENSP00000335325:p.Glu165Asp		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	NULL	p.E165D	ENST00000335185.5	37	c.495	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569920	0.65765	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.89	4.01	0.46588	.	.	.	.	.	T	0.68668	0.3026	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.68116	-0.5494	8	0.62326	D	0.03	.	8.166	0.31226	0.0:0.6981:0.0:0.3018	.	165;165	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	D	165	.	ENSP00000335325:E165D	E	-	3	2	CCDC73	32654078	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.423000	0.34837	0.814000	0.34374	0.585000	0.79938	GAG	CCDC73	-	NULL		0.284	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2	C	NM_001008391		32697502	-1	no_errors	ENST00000335185	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC85C	317762	genome.wustl.edu	37	14	100002419	100002419	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:100002419G>A	ENST00000380243.4	-	2	866	c.800C>T	c.(799-801)tCa>tTa	p.S267L		NM_001144995.1	NP_001138467.1	A6NKD9	CC85C_HUMAN	coiled-coil domain containing 85C	267					cerebral cortex development (GO:0021987)	apical junction complex (GO:0043296)|tight junction (GO:0005923)				endometrium(1)|skin(1)	2						GTAGGTGGATGAGGGATCTGG	0.612																																																	0													112.0	115.0	114.0					14																	100002419		692	1591	2283	SO:0001583	missense	317762				CCDS45161.1	14q32.31	2009-02-18				ENSG00000205476			35459	protein-coding gene	gene with protein product							Standard	NM_001144995		Approved		uc010avr.3	A6NKD9		ENST00000380243.4:c.800C>T	14.37:g.100002419G>A	ENSP00000369592:p.Ser267Leu			Missense_Mutation	SNP	pfam_DUF2216_coiled-coil	p.S267L	ENST00000380243.4	37	c.800	CCDS45161.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.96|16.96	3.264777|3.264777	0.59431|0.59431	.|.	.|.	ENSG00000205476|ENSG00000205476	ENST00000557576|ENST00000380243;ENST00000554996;ENST00000556348	.|.	.|.	.|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	.|0.188112	.|0.34802	.|U	.|0.003678	T|T	0.45377|0.45377	0.1339|0.1339	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	.|P	.|0.43750	.|0.816	.|B	.|0.39068	.|0.289	T|T	0.45673|0.45673	-0.9245|-0.9245	5|9	.|0.39692	.|T	.|0.17	-8.2215|-8.2215	13.7151|13.7151	0.62691|0.62691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|267	.|A6NKD9	.|CC85C_HUMAN	Y|L	3|267;38;19	.|.	.|ENSP00000369592:S267L	H|S	-|-	1|2	0|0	CCDC85C|CCDC85C	99072172|99072172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	5.892000|5.892000	0.69790|0.69790	2.502000|2.502000	0.84385|0.84385	0.655000|0.655000	0.94253|0.94253	CAT|TCA	CCDC85C	-	NULL		0.612	CCDC85C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85C	HGNC	protein_coding	OTTHUMT00000413802.1	G	NM_001144995		100002419	-1	no_errors	ENST00000380243	ensembl	human	known	70_37	missense	SNP	1.000	A
CCNB3	85417	genome.wustl.edu	37	X	50054313	50054313	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:50054313C>G	ENST00000376042.1	+	6	3442	c.3144C>G	c.(3142-3144)ttC>ttG	p.F1048L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.F1048L			Q8WWL7	CCNB3_HUMAN	cyclin B3	1048					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGGAAACATTCTTGATCCCCC	0.498																																																	0													121.0	100.0	107.0					X																	50054313		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3144C>G	X.37:g.50054313C>G	ENSP00000365210:p.Phe1048Leu		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.F1048L	ENST00000376042.1	37	c.3144	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	C	9.341	1.063046	0.19987	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.19250	2.16;2.16	2.6	1.7	0.24286	.	968.749000	0.00166	N	0.000000	T	0.16171	0.0389	L	0.27053	0.805	0.09310	N	1	B	0.15719	0.014	B	0.14023	0.01	T	0.18429	-1.0337	9	.	.	.	.	5.9401	0.19187	0.3087:0.6913:0.0:0.0	.	1048	Q8WWL7	CCNB3_HUMAN	L	1048	ENSP00000365210:F1048L;ENSP00000276014:F1048L	.	F	+	3	2	CCNB3	50071053	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.555000	0.05999	0.492000	0.27815	0.292000	0.19580	TTC	CCNB3	-	NULL		0.498	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	C			50054313	+1	no_errors	ENST00000276014	ensembl	human	known	70_37	missense	SNP	0.001	G
CDH11	1009	genome.wustl.edu	37	16	64981644	64981644	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:64981644C>T	ENST00000268603.4	-	13	2868	c.2253G>A	c.(2251-2253)gtG>gtA	p.V751V	CDH11_ENST00000566827.1_Silent_p.V625V|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	751					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGGACCCGGCCACTGAGCCCC	0.498			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													78.0	81.0	80.0					16																	64981644		2203	4300	6503	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2253G>A	16.37:g.64981644C>T			A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V751	ENST00000268603.4	37	c.2253	CCDS10803.1	16																																																																																			CDH11	-	pfam_Cadherin_cytoplasmic-dom		0.498	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	C	NM_033664		64981644	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	silent	SNP	1.000	T
CDH20	28316	genome.wustl.edu	37	18	59217360	59217360	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:59217360G>A	ENST00000262717.4	+	11	2196	c.1798G>A	c.(1798-1800)Gac>Aac	p.D600N	CDH20_ENST00000538374.1_Missense_Mutation_p.D600N|CDH20_ENST00000536675.2_Missense_Mutation_p.D600N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	600	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CTGTGATGACGACGGCCACGT	0.592																																																	0													72.0	52.0	58.0					18																	59217360		2203	4300	6503	SO:0001583	missense	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1798G>A	18.37:g.59217360G>A	ENSP00000262717:p.Asp600Asn		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D600N	ENST00000262717.4	37	c.1798	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	G	9.085	1.000328	0.19121	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.36520	1.25;1.25;1.25	5.93	-1.83	0.07833	Cadherin (3);	0.592564	0.18913	N	0.127711	T	0.11281	0.0275	N	0.02192	-0.645	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31503	-0.9941	10	0.15499	T	0.54	.	7.563	0.27862	0.4603:0.1058:0.4339:0.0	.	600	Q9HBT6	CAD20_HUMAN	N	600	ENSP00000444767:D600N;ENSP00000442226:D600N;ENSP00000262717:D600N	ENSP00000262717:D600N	D	+	1	0	CDH20	57368340	0.006000	0.16342	0.003000	0.11579	0.256000	0.26092	1.238000	0.32707	-0.346000	0.08312	-0.742000	0.03525	GAC	CDH20	-	smart_Cadherin,pfscan_Cadherin		0.592	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	G	NM_031891		59217360	+1	no_errors	ENST00000262717	ensembl	human	known	70_37	missense	SNP	0.006	A
CDHR1	92211	genome.wustl.edu	37	10	85970835	85970835	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:85970835G>A	ENST00000372117.3	+	13	1502	c.1399G>A	c.(1399-1401)Gac>Aac	p.D467N	CDHR1_ENST00000440770.2_Intron|CDHR1_ENST00000332904.3_Missense_Mutation_p.D467N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	467	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGACACCAATGACAATGTCCC	0.577																																																	0													127.0	122.0	123.0					10																	85970835		2203	4300	6503	SO:0001583	missense	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1399G>A	10.37:g.85970835G>A	ENSP00000361189:p.Asp467Asn		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D467N	ENST00000372117.3	37	c.1399	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995945	0.93167	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.71579	-0.58;-0.58	5.79	5.79	0.91817	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.955;1.0	D	0.91849	0.5490	10	0.72032	D	0.01	-5.3462	18.8083	0.92047	0.0:0.0:1.0:0.0	.	467;467	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	N	467	ENSP00000331063:D467N;ENSP00000361189:D467N	ENSP00000331063:D467N	D	+	1	0	CDHR1	85960815	1.000000	0.71417	0.993000	0.49108	0.634000	0.38068	9.383000	0.97214	2.735000	0.93741	0.563000	0.77884	GAC	CDHR1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.577	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	G	NM_033100		85970835	+1	no_errors	ENST00000372117	ensembl	human	known	70_37	missense	SNP	1.000	A
CDK12	51755	genome.wustl.edu	37	17	37687065	37687065	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:37687065G>C	ENST00000447079.4	+	14	4002	c.3969G>C	c.(3967-3969)ttG>ttC	p.L1323F	CDK12_ENST00000430627.2_Missense_Mutation_p.L1314F	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1323					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACCAGGCCTTGAGACCAATGG	0.562			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													91.0	94.0	93.0					17																	37687065		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3969G>C	17.37:g.37687065G>C	ENSP00000398880:p.Leu1323Phe		A7E2B2|B4DYX4|B9EIQ6|O94978	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.L1323F	ENST00000447079.4	37	c.3969	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	5.213	0.224840	0.09916	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.68624	-0.34;-0.33	5.45	5.45	0.79879	.	0.184554	0.26662	N	0.023149	T	0.48429	0.1499	N	0.08118	0	0.36231	D	0.852618	B;B	0.25441	0.077;0.126	B;B	0.26864	0.034;0.074	T	0.57165	-0.7858	10	0.59425	D	0.04	-0.858	13.8722	0.63626	0.0:0.153:0.8469:0.0	.	1323;1314	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	F	1314;1323	ENSP00000407720:L1314F;ENSP00000398880:L1323F	ENSP00000407720:L1314F	L	+	3	2	CDK12	34940591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.659000	0.37387	2.836000	0.97738	0.655000	0.94253	TTG	CDK12	-	NULL		0.562	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	G	NM_016507		37687065	+1	no_errors	ENST00000447079	ensembl	human	known	70_37	missense	SNP	1.000	C
CDK6	1021	genome.wustl.edu	37	7	92462443	92462443	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:92462443C>T	ENST00000265734.4	-	2	606	c.195G>A	c.(193-195)ctG>ctA	p.L65L	CDK6_ENST00000491250.1_5'Flank|CDK6_ENST00000424848.2_Silent_p.L65L	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	65	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCAGGTGCCTCAGCACCGCCA	0.706			T	MLLT10	ALL						OREG0018165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0													24.0	24.0	24.0					7																	92462443		2200	4298	6498	SO:0001819	synonymous_variant	1021				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.195G>A	7.37:g.92462443C>T		1290	A4D1G0	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.L65	ENST00000265734.4	37	c.195	CCDS5628.1	7																																																																																			CDK6	-	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		0.706	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK6	HGNC	protein_coding	OTTHUMT00000254605.2	C			92462443	-1	no_errors	ENST00000265734	ensembl	human	known	70_37	silent	SNP	1.000	T
CDKL5	6792	genome.wustl.edu	37	X	18668690	18668690	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:18668690C>T	ENST00000379989.3	+	21	3243	c.2958C>T	c.(2956-2958)ttC>ttT	p.F986F	RS1_ENST00000476595.1_5'Flank|CDKL5_ENST00000379996.3_Silent_p.F986F|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	986					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTGATGCTTTCAGCTGCCCAA	0.587																																																	0													100.0	80.0	87.0					X																	18668690		2203	4300	6503	SO:0001819	synonymous_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2958C>T	X.37:g.18668690C>T			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	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.F986	ENST00000379989.3	37	c.2958	CCDS14186.1	X																																																																																			CDKL5	-	NULL		0.587	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	C	NM_003159		18668690	+1	no_errors	ENST00000379989	ensembl	human	known	70_37	silent	SNP	0.001	T
CELSR3	1951	genome.wustl.edu	37	3	48678853	48678853	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:48678853C>T	ENST00000164024.4	-	33	9209	c.8929G>A	c.(8929-8931)Gac>Aac	p.D2977N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D2982N|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2977					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGCTGGTGTCCAGCCCCAGG	0.647																																																	0													54.0	64.0	60.0					3																	48678853		2203	4300	6503	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8929G>A	3.37:g.48678853C>T	ENSP00000164024:p.Asp2977Asn		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.D2982N	ENST00000164024.4	37	c.8944	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.701609	0.96812	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.73789	-0.78;-0.78	5.22	5.22	0.72569	.	.	.	.	.	T	0.80722	0.4677	L	0.32530	0.975	0.80722	D	1	D;P;D	0.76494	0.966;0.943;0.999	P;P;D	0.69654	0.669;0.469;0.965	T	0.83088	-0.0134	9	0.87932	D	0	.	18.7791	0.91924	0.0:1.0:0.0:0.0	.	2982;2977;3075	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	N	2977;2982	ENSP00000164024:D2977N;ENSP00000445694:D2982N	ENSP00000164024:D2977N	D	-	1	0	CELSR3	48653857	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.163000	0.77524	2.436000	0.82500	0.514000	0.50259	GAC	CELSR3	-	NULL		0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	C	NM_001407		48678853	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	missense	SNP	1.000	T
CENPBD1	92806	genome.wustl.edu	37	16	90038052	90038052	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:90038052C>T	ENST00000314994.3	-	1	890	c.279G>A	c.(277-279)ctG>ctA	p.L93L	AFG3L1P_ENST00000437774.1_RNA|RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	93	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(2)	3						ACAAGCTCAGCAGCTGCTCCA	0.517																																																	0													26.0	29.0	28.0					16																	90038052		2121	4231	6352	SO:0001819	synonymous_variant	92806			AK056131	CCDS45556.1	16q24.3	2009-08-26			ENSG00000177946	ENSG00000177946			28272	protein-coding gene	gene with protein product							Standard	NM_145039		Approved	MGC16385	uc002fpr.3	B2RD01		ENST00000314994.3:c.279G>A	16.37:g.90038052C>T				Silent	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.L93	ENST00000314994.3	37	c.279	CCDS45556.1	16																																																																																			CENPBD1	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like		0.517	CENPBD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPBD1	HGNC	protein_coding	OTTHUMT00000421897.1	C	NM_145039		90038052	-1	no_errors	ENST00000314994	ensembl	human	known	70_37	silent	SNP	0.002	T
CEP85L	387119	genome.wustl.edu	37	6	118786573	118786573	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:118786573G>C	ENST00000368491.3	-	13	3034	c.2413C>G	c.(2413-2415)Cag>Gag	p.Q805E	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q808E	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	805						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CTTGATCACTGAGTAATGCAG	0.428																																																	0													259.0	238.0	244.0					6																	118786573		2013	4183	6196	SO:0001583	missense	387119			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2413C>G	6.37:g.118786573G>C	ENSP00000357477:p.Gln805Glu		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	NULL	p.Q808E	ENST00000368491.3	37	c.2422	CCDS43498.1	6	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498896	0.85069	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.37411	1.22;1.2	5.84	5.84	0.93424	.	0.062597	0.64402	D	0.000005	T	0.55369	0.1916	M	0.65975	2.015	0.45648	D	0.998573	D	0.67145	0.996	D	0.76071	0.987	T	0.56384	-0.7988	10	0.87932	D	0	.	20.1336	0.98010	0.0:0.0:1.0:0.0	.	805	Q5SZL2	CF204_HUMAN	E	805;808	ENSP00000357477:Q805E;ENSP00000357474:Q808E	ENSP00000357474:Q808E	Q	-	1	0	C6orf204	118893266	1.000000	0.71417	0.999000	0.59377	0.785000	0.44390	8.503000	0.90509	2.767000	0.95098	0.591000	0.81541	CAG	CEP85L	-	NULL		0.428	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	G	NM_001042475		118786573	-1	no_errors	ENST00000368488	ensembl	human	known	70_37	missense	SNP	1.000	C
CERK	64781	genome.wustl.edu	37	22	47083041	47083041	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:47083041G>A	ENST00000216264.8	-	13	1716	c.1604C>T	c.(1603-1605)tCa>tTa	p.S535L	CERK_ENST00000471929.1_5'Flank|CERK_ENST00000541677.1_Missense_Mutation_p.S337L	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	535					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCAGCTGTGTGAGTCTGGCTT	0.453																																																	0													64.0	65.0	65.0					22																	47083041		2203	4300	6503	SO:0001583	missense	64781			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1604C>T	22.37:g.47083041G>A	ENSP00000216264:p.Ser535Leu		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.S535L	ENST00000216264.8	37	c.1604	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	g	11.84	1.757654	0.31137	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.30448	2.23;1.53	5.18	-2.94	0.05581	.	2.662760	0.02782	N	0.121007	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15896	-1.0421	10	0.27785	T	0.31	-8.1976	3.9258	0.09263	0.3139:0.0:0.4303:0.2558	.	535	Q8TCT0	CERK1_HUMAN	L	535;337	ENSP00000216264:S535L;ENSP00000438659:S337L	ENSP00000216264:S535L	S	-	2	0	CERK	45461705	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.021000	0.12504	-0.066000	0.12998	0.563000	0.77884	TCA	CERK	-	NULL		0.453	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	G	NM_022766		47083041	-1	no_errors	ENST00000216264	ensembl	human	known	70_37	missense	SNP	0.000	A
CFH	3075	genome.wustl.edu	37	1	196711155	196711155	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:196711155G>A	ENST00000367429.4	+	19	3347	c.3107G>A	c.(3106-3108)aGa>aAa	p.R1036K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1036	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTAATAGCAGATGGACAGGA	0.433																																																	0													106.0	94.0	98.0					1																	196711155		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3107G>A	1.37:g.196711155G>A	ENSP00000356399:p.Arg1036Lys		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R1036K	ENST00000367429.4	37	c.3107	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	8.646	0.897100	0.17686	.	.	ENSG00000000971	ENST00000367429	T	0.64618	-0.11	5.86	-10.8	0.00216	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.25975	0.0633	N	0.10972	0.075	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.18241	-1.0343	9	0.02654	T	1	.	3.9812	0.09495	0.2452:0.2007:0.4554:0.0987	.	1036	P08603	CFAH_HUMAN	K	1036	ENSP00000356399:R1036K	ENSP00000356399:R1036K	R	+	2	0	CFH	194977778	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.655000	0.01982	-1.670000	0.01468	-0.894000	0.02916	AGA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.433	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	G	NM_000186		196711155	+1	no_errors	ENST00000367429	ensembl	human	known	70_37	missense	SNP	0.000	A
CHD3	1107	genome.wustl.edu	37	17	7802458	7802458	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:7802458G>A	ENST00000330494.7	+	14	2431	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	CHD3_ENST00000358181.4_Missense_Mutation_p.D761N|CHD3_ENST00000380358.4_Missense_Mutation_p.D820N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	761	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATTCTAGCTGATGAGATGGG	0.547																																																	0													138.0	129.0	132.0					17																	7802458		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2281G>A	17.37:g.7802458G>A	ENSP00000332628:p.Asp761Asn		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D761N	ENST00000330494.7	37	c.2281	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912508	0.72983	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.96716	-4.1;-4.1;-4.1	5.47	5.47	0.80525	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.47852	D	0.000207	D	0.99086	0.9686	H	0.98849	4.35	0.80722	D	1	D;D;D	0.76494	0.996;0.997;0.999	D;D;D	0.85130	0.993;0.996;0.997	D	0.98928	1.0786	10	0.87932	D	0	-22.5927	19.6995	0.96047	0.0:0.0:1.0:0.0	.	761;761;820	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	N	820;761;761	ENSP00000369716:D820N;ENSP00000350907:D761N;ENSP00000332628:D761N	ENSP00000332628:D761N	D	+	1	0	CHD3	7743183	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.790000	0.99075	2.744000	0.94065	0.561000	0.74099	GAT	CHD3	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.547	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	G	NM_001005273		7802458	+1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	A
CIZ1	25792	genome.wustl.edu	37	9	130940030	130940030	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:130940030C>T	ENST00000393608.1	-	10	1835	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R	CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000541172.1_Missense_Mutation_p.G444R|CIZ1_ENST00000372954.1_Missense_Mutation_p.G465R|CIZ1_ENST00000538431.1_Missense_Mutation_p.G545R|CIZ1_ENST00000372938.5_Missense_Mutation_p.G545R|CIZ1_ENST00000277465.4_Missense_Mutation_p.G517R|CIZ1_ENST00000372948.3_Missense_Mutation_p.G489R|CIZ1_ENST00000325721.8_Missense_Mutation_p.G516R|CIZ1_ENST00000357558.5_Missense_Mutation_p.G517R	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	545					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGGGAGCCCCCGGCGCCCCAT	0.582																																																	0													18.0	17.0	17.0					9																	130940030		2201	4298	6499	SO:0001583	missense	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1633G>A	9.37:g.130940030C>T	ENSP00000377232:p.Gly545Arg		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.G545R	ENST00000393608.1	37	c.1633	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489771	0.64074	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.96;0.84;1.12;0.96;1.39;1.12;0.79;0.96;1.53	5.48	5.48	0.80851	.	0.000000	0.51477	D	0.000099	T	0.62551	0.2437	L	0.46157	1.445	0.36607	D	0.874998	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	1.0;1.0;1.0;1.0;0.999;0.999;0.999	T	0.69866	-0.5029	10	0.87932	D	0	-37.3234	15.0027	0.71486	0.143:0.857:0.0:0.0	.	545;484;489;465;545;516;517	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	R	465;545;545;517;516;484;444;517;489;545;467	ENSP00000362045:G465R;ENSP00000377232:G545R;ENSP00000439244:G545R;ENSP00000350169:G517R;ENSP00000320374:G516R;ENSP00000445057:G444R;ENSP00000277465:G517R;ENSP00000362039:G489R;ENSP00000362029:G545R;ENSP00000398011:G467R	ENSP00000277465:G517R	G	-	1	0	CIZ1	129979851	0.995000	0.38212	0.998000	0.56505	0.459000	0.32528	3.820000	0.55693	2.577000	0.86979	0.462000	0.41574	GGG	CIZ1	-	NULL		0.582	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	C	NM_012127		130940030	-1	no_errors	ENST00000538431	ensembl	human	known	70_37	missense	SNP	0.996	T
CLASP1	23332	genome.wustl.edu	37	2	122182816	122182816	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:122182816G>A	ENST00000263710.4	-	22	2500	c.2111C>T	c.(2110-2112)tCc>tTc	p.S704F	CLASP1_ENST00000545861.1_Missense_Mutation_p.S480F|CLASP1_ENST00000455322.2_Missense_Mutation_p.S704F|CLASP1_ENST00000397587.3_Missense_Mutation_p.S712F|CLASP1_ENST00000409078.3_Missense_Mutation_p.S704F|CLASP1_ENST00000541377.1_Missense_Mutation_p.S711F|CLASP1_ENST00000541859.1_Missense_Mutation_p.S473F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	704	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCCTCGTGAGGAGCCCCCAGT	0.493																																																	0													89.0	87.0	88.0					2																	122182816		1838	4086	5924	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2111C>T	2.37:g.122182816G>A	ENSP00000263710:p.Ser704Phe		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S704F	ENST00000263710.4	37	c.2111		2	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469760	0.43839	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000463621	T;T;T;T;T;T	0.48522	2.15;2.12;2.11;2.14;0.81;2.13	5.83	5.83	0.93111	Armadillo-type fold (1);	0.349077	0.33980	N	0.004371	T	0.42743	0.1216	L	0.34521	1.04	0.40195	D	0.977447	B;P;B;P	0.36315	0.412;0.547;0.412;0.523	B;B;B;B	0.37047	0.084;0.24;0.084;0.165	T	0.22417	-1.0217	10	0.31617	T	0.26	-2.5211	20.1047	0.97888	0.0:0.0:1.0:0.0	.	704;712;711;704	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	F	704;704;712;711;473;704;480;45	ENSP00000263710:S704F;ENSP00000389372:S704F;ENSP00000380717:S712F;ENSP00000441625:S711F;ENSP00000441770:S473F;ENSP00000386442:S704F	ENSP00000263710:S704F	S	-	2	0	CLASP1	121899286	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.844000	0.62846	2.762000	0.94881	0.655000	0.94253	TCC	CLASP1	-	superfamily_ARM-type_fold		0.493	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		G	NM_015282		122182816	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	missense	SNP	0.759	A
CLCN6	1185	genome.wustl.edu	37	1	11886216	11886216	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:11886216C>G	ENST00000346436.6	+	9	704	c.652C>G	c.(652-654)Cag>Gag	p.Q218E	CLCN6_ENST00000376496.3_Missense_Mutation_p.Q218E|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Missense_Mutation_p.Q218E|CLCN6_ENST00000376487.3_Missense_Mutation_p.Q196E	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	218					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTAGTTTCAGAGCATCTC	0.378																																																	0													133.0	130.0	131.0					1																	11886216		2203	4300	6503	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.652C>G	1.37:g.11886216C>G	ENSP00000234488:p.Gln218Glu		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.Q218E	ENST00000346436.6	37	c.652	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936181	0.52972	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.76	5.76	0.90799	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	L	0.41356	1.27	0.80722	D	1	B;B;P;P;B	0.35011	0.11;0.2;0.473;0.48;0.134	B;B;B;B;B	0.30943	0.033;0.061;0.122;0.09;0.056	D	0.86825	0.2007	10	0.36615	T	0.2	-28.5382	18.9641	0.92689	0.0:1.0:0.0:0.0	.	196;218;218;218;218	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	E	218;218;196;218;218;218;218	ENSP00000308367:Q218E;ENSP00000234488:Q218E;ENSP00000365670:Q196E;ENSP00000365679:Q218E	ENSP00000308367:Q218E	Q	+	1	0	CLCN6	11808803	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.471000	0.80985	2.713000	0.92767	0.655000	0.94253	CAG	CLCN6	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl_channel-6		0.378	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	C	NM_001286		11886216	+1	no_errors	ENST00000346436	ensembl	human	known	70_37	missense	SNP	1.000	G
CLK2	1196	genome.wustl.edu	37	1	155239497	155239497	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:155239497C>T	ENST00000368361.4	-	3	496	c.181G>A	c.(181-183)Gat>Aat	p.D61N	CLK2_ENST00000355560.4_Missense_Mutation_p.D60N|CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000361168.5_Missense_Mutation_p.D61N|CLK2_ENST00000536801.1_Missense_Mutation_p.D61N			P49760	CLK2_HUMAN	CDC-like kinase 2	61					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GACGAACGATCATCATAACTG	0.498								Other conserved DNA damage response genes																																									0													103.0	91.0	95.0					1																	155239497		2203	4300	6503	SO:0001583	missense	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.181G>A	1.37:g.155239497C>T	ENSP00000357345:p.Asp61Asn		B1AVS9|B5MBX6|Q96CQ0	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.D61N	ENST00000368361.4	37	c.181		1	.	.	.	.	.	.	.	.	.	.	.	8.750	0.920975	0.17982	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.52057	0.68;0.69;0.69;0.69	4.96	4.96	0.65561	.	0.190289	0.56097	D	0.000036	T	0.13200	0.0320	N	0.02011	-0.69	0.41831	D	0.990074	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.04737	-1.0930	10	0.40728	T	0.16	.	16.9692	0.86294	0.0:1.0:0.0:0.0	.	61;61	P49760;P49760-3	CLK2_HUMAN;.	N	61;61;60;61	ENSP00000354856:D61N;ENSP00000357345:D61N;ENSP00000347759:D60N;ENSP00000441023:D61N	ENSP00000347759:D60N	D	-	1	0	CLK2	153506121	1.000000	0.71417	0.998000	0.56505	0.518000	0.34316	4.900000	0.63252	2.595000	0.87683	0.558000	0.71614	GAT	CLK2	-	NULL		0.498	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	C	NM_003993		155239497	-1	no_errors	ENST00000368361	ensembl	human	known	70_37	missense	SNP	1.000	T
CLP1	10978	genome.wustl.edu	37	11	57427146	57427146	+	Silent	SNP	C	C	T	rs267603020		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:57427146C>T	ENST00000302731.4	+	2	318	c.198C>T	c.(196-198)ttC>ttT	p.F66F	CLP1_ENST00000529430.1_Silent_p.F77F|CLP1_ENST00000525602.1_Silent_p.F66F|CLP1_ENST00000533682.1_Silent_p.F66F	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TGGCTGTTTTCACTTGGCATG	0.507																																																	0													95.0	88.0	90.0					11																	57427146		2201	4296	6497	SO:0001819	synonymous_variant	10978			BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.198C>T	11.37:g.57427146C>T			Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1	p.F66	ENST00000302731.4	37	c.198	CCDS44600.1	11																																																																																			CLP1	-	NULL		0.507	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	CLP1	HGNC	protein_coding	OTTHUMT00000393465.1	C	NM_006831		57427146	+1	no_errors	ENST00000525602	ensembl	human	known	70_37	silent	SNP	1.000	T
CMKLR1	1240	genome.wustl.edu	37	12	108686038	108686038	+	Silent	SNP	G	G	A	rs372166234		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:108686038G>A	ENST00000312143.7	-	3	1065	c.702C>T	c.(700-702)ctC>ctT	p.L234L	CMKLR1_ENST00000397688.2_Silent_p.L232L|CMKLR1_ENST00000552995.1_Silent_p.L232L|CMKLR1_ENST00000412676.1_Silent_p.L234L|CMKLR1_ENST00000550402.1_Silent_p.L234L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	234					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CTGTGATGATGAGGACTGGGA	0.557																																																	0													61.0	66.0	64.0					12																	108686038		2141	4246	6387	SO:0001819	synonymous_variant	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.702C>T	12.37:g.108686038G>A			A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.L234	ENST00000312143.7	37	c.702	CCDS44965.1	12																																																																																			CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.557	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	G			108686038	-1	no_errors	ENST00000312143	ensembl	human	known	70_37	silent	SNP	0.131	A
CMYA5	202333	genome.wustl.edu	37	5	79029018	79029018	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:79029018C>T	ENST00000446378.2	+	2	4461	c.4430C>T	c.(4429-4431)aCa>aTa	p.T1477I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1477					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTAATCAAAACATCATCTTCT	0.378																																																	0													85.0	82.0	83.0					5																	79029018		1859	4096	5955	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4430C>T	5.37:g.79029018C>T	ENSP00000394770:p.Thr1477Ile		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.T1477I	ENST00000446378.2	37	c.4430	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	1.001	-0.690799	0.03303	.	.	ENSG00000164309	ENST00000446378	T	0.03745	3.82	4.45	2.47	0.30058	.	1.045040	0.07634	N	0.929184	T	0.03477	0.0100	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.44081	-0.9351	10	0.87932	D	0	.	4.2564	0.10719	0.0:0.5848:0.0:0.4152	.	1477	Q8N3K9	CMYA5_HUMAN	I	1477	ENSP00000394770:T1477I	ENSP00000394770:T1477I	T	+	2	0	CMYA5	79064774	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.022000	0.13511	0.663000	0.31027	0.650000	0.86243	ACA	CMYA5	-	NULL		0.378	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79029018	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.001	T
CNBD2	140894	genome.wustl.edu	37	20	34575384	34575384	+	Missense_Mutation	SNP	G	G	C	rs142929392	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:34575384G>C	ENST00000373973.3	+	7	957	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	CNBD2_ENST00000349339.1_Missense_Mutation_p.E262Q|CNBD2_ENST00000538900.1_Missense_Mutation_p.E262Q			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	262																	GGCGAAGATAGAGAGGTTCTC	0.483																																																	0													103.0	87.0	92.0					20																	34575384		2203	4300	6503	SO:0001583	missense	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.784G>C	20.37:g.34575384G>C	ENSP00000363084:p.Glu262Gln		Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E262Q	ENST00000373973.3	37	c.784		20	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156649	0.57259	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.43294	0.95;0.95;0.95	5.14	5.14	0.70334	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.079724	0.51477	D	0.000092	T	0.62073	0.2398	M	0.75264	2.295	0.29394	N	0.86244	D;D	0.89917	0.968;1.0	P;D	0.85130	0.898;0.997	T	0.58216	-0.7675	10	0.25751	T	0.34	-20.9815	13.9866	0.64339	0.0:0.0:1.0:0.0	.	262;262	Q96M20;Q96M20-2	CT152_HUMAN;.	Q	262	ENSP00000363084:E262Q;ENSP00000340954:E262Q;ENSP00000442729:E262Q	ENSP00000340954:E262Q	E	+	1	0	C20orf152	34038798	0.999000	0.42202	0.299000	0.25016	0.100000	0.18952	3.690000	0.54713	2.677000	0.91161	0.655000	0.94253	GAG	CNBD2	-	superfamily_cNMP-bd-like		0.483	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	G	NM_080834		34575384	+1	no_errors	ENST00000373973	ensembl	human	known	70_37	missense	SNP	0.824	C
COL12A1	1303	genome.wustl.edu	37	6	75912466	75912466	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:75912466C>T	ENST00000322507.8	-	2	352	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	COL12A1_ENST00000345356.6_Missense_Mutation_p.A15T|COL12A1_ENST00000416123.2_Missense_Mutation_p.A15T|COL12A1_ENST00000483888.2_Missense_Mutation_p.A15T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	15					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGGAGCAGGGCCGCGCCCAGG	0.557																																																	0													42.0	43.0	43.0					6																	75912466		1820	3891	5711	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.43G>A	6.37:g.75912466C>T	ENSP00000325146:p.Ala15Thr		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.A15T	ENST00000322507.8	37	c.43	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697009	0.68386	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D	0.87103	-2.2;-2.21;-2.2;-2.18	5.2	4.27	0.50696	.	0.090768	0.46442	D	0.000284	T	0.69205	0.3085	N	0.19112	0.55	0.30098	N	0.807666	B;B	0.30281	0.275;0.18	B;B	0.30179	0.112;0.052	T	0.70092	-0.4967	10	0.62326	D	0.03	.	14.3055	0.66382	0.0:0.8508:0.1492:0.0	.	15;15	Q99715-2;Q99715	.;COCA1_HUMAN	T	15	ENSP00000325146:A15T;ENSP00000305147:A15T;ENSP00000412864:A15T;ENSP00000421216:A15T	ENSP00000325146:A15T	A	-	1	0	COL12A1	75969186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.955000	0.56715	2.427000	0.82271	0.561000	0.74099	GCC	COL12A1	-	NULL		0.557	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	C	NM_004370		75912466	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	1.000	T
COL18A1	80781	genome.wustl.edu	37	21	46875882	46875882	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:46875882G>A	ENST00000359759.4	+	1	459	c.438G>A	c.(436-438)gaG>gaA	p.E146E	COL18A1_ENST00000355480.5_Silent_p.E146E|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	146					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGTCCTGGAGACTCCTGTGG	0.647																																																	0													30.0	35.0	33.0					21																	46875882		1981	4124	6105	SO:0001819	synonymous_variant	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.438G>A	21.37:g.46875882G>A			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.E146	ENST00000359759.4	37	c.438		21																																																																																			COL18A1	-	pfam_DUF959_COL18_N		0.647	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	G			46875882	+1	no_errors	ENST00000359759	ensembl	human	known	70_37	silent	SNP	0.000	A
COL18A1	80781	genome.wustl.edu	37	21	46925096	46925096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:46925096C>T	ENST00000359759.4	+	34	4183	c.4162C>T	c.(4162-4164)Cag>Tag	p.Q1388*	COL18A1_ENST00000355480.5_Nonsense_Mutation_p.Q1153*|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Nonsense_Mutation_p.Q973*			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1388	Triple-helical region 9 (COL9).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ACCTGGACCTCAGGGACCCCC	0.711																																																	0													7.0	10.0	9.0					21																	46925096		1702	3937	5639	SO:0001587	stop_gained	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4162C>T	21.37:g.46925096C>T	ENSP00000352798:p.Gln1388*		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Nonsense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.Q1388*	ENST00000359759.4	37	c.4162		21	.	.	.	.	.	.	.	.	.	.	C	45	11.781998	0.99602	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	.	.	.	3.95	3.95	0.45737	.	0.229658	0.37669	N	0.001991	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	15.4345	0.75133	0.0:1.0:0.0:0.0	.	.	.	.	X	973;973;1153;1388;1388;320	.	ENSP00000339118:Q320X	Q	+	1	0	COL18A1	45749524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.315000	0.51951	2.138000	0.66242	0.555000	0.69702	CAG	COL18A1	-	NULL		0.711	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	C			46925096	+1	no_errors	ENST00000359759	ensembl	human	known	70_37	nonsense	SNP	1.000	T
COL24A1	255631	genome.wustl.edu	37	1	86591521	86591521	+	Silent	SNP	A	A	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:86591521A>G	ENST00000370571.2	-	3	864	c.498T>C	c.(496-498)ttT>ttC	p.F166F	COL24A1_ENST00000436319.1_Silent_p.F166F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	166	Laminin G-like.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TAGTAATGGCAAATGAGTGCC	0.358																																																	0													58.0	53.0	55.0					1																	86591521		1847	4090	5937	SO:0001819	synonymous_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.498T>C	1.37:g.86591521A>G			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.F166	ENST00000370571.2	37	c.498	CCDS41353.1	1																																																																																			COL24A1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	A	NM_152890		86591521	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	silent	SNP	0.823	G
COL6A3	1293	genome.wustl.edu	37	2	238296430	238296430	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:238296430C>T	ENST00000295550.4	-	4	1559	c.1107G>A	c.(1105-1107)ctG>ctA	p.L369L	COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000409809.1_Silent_p.L163L|COL6A3_ENST00000353578.4_Silent_p.L163L|COL6A3_ENST00000346358.4_Silent_p.L369L|COL6A3_ENST00000392004.3_Silent_p.L163L|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	369	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TAGCCTGCTTCAGTGCTACCA	0.612																																																	0													52.0	51.0	51.0					2																	238296430		2203	4300	6503	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1107G>A	2.37:g.238296430C>T			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.L369	ENST00000295550.4	37	c.1107	CCDS33412.1	2																																																																																			COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238296430	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	silent	SNP	1.000	T
COLEC12	81035	genome.wustl.edu	37	18	346407	346407	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:346407C>T	ENST00000400256.3	-	5	1422	c.1215G>A	c.(1213-1215)ttG>ttA	p.L405L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	405					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCGACCTCATCAAATCTTGTT	0.418																																																	0													154.0	135.0	142.0					18																	346407		2203	4300	6503	SO:0001819	synonymous_variant	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1215G>A	18.37:g.346407C>T			Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.L405	ENST00000400256.3	37	c.1215	CCDS32782.1	18																																																																																			COLEC12	-	NULL		0.418	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	C			346407	-1	no_errors	ENST00000400256	ensembl	human	known	70_37	silent	SNP	1.000	T
COQ5	84274	genome.wustl.edu	37	12	120960131	120960131	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:120960131C>T	ENST00000288532.6	-	2	278	c.238G>A	c.(238-240)Gat>Aat	p.D80N	COQ5_ENST00000445328.2_Missense_Mutation_p.D80N	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	80					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCATCACATCATACTTCTTA	0.423																																																	0													227.0	191.0	203.0					12																	120960131		2203	4300	6503	SO:0001583	missense	84274			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.238G>A	12.37:g.120960131C>T	ENSP00000288532:p.Asp80Asn		B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase	p.D80N	ENST00000288532.6	37	c.238	CCDS31912.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.873241	0.97049	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547736	T;T;T	0.75589	-0.95;-0.95;-0.95	5.91	5.91	0.95273	UbiE/COQ5 methyltransferase, conserved site (1);	0.098661	0.64402	D	0.000001	D	0.91348	0.7271	H	0.96430	3.82	0.44579	D	0.997549	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93235	0.6621	10	0.87932	D	0	.	19.905	0.97004	0.0:1.0:0.0:0.0	.	80;80	B4DP72;Q5HYK3	.;COQ5_HUMAN	N	80;80;80;54	ENSP00000288532:D80N;ENSP00000401798:D80N;ENSP00000449933:D54N	ENSP00000288532:D80N	D	-	1	0	COQ5	119444514	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	7.594000	0.82698	2.804000	0.96469	0.462000	0.41574	GAT	COQ5	-	pfam_UbiE/COQ5_MeTrFase		0.423	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ5	HGNC	protein_coding	OTTHUMT00000403767.2	C	NM_032314		120960131	-1	no_errors	ENST00000288532	ensembl	human	known	70_37	missense	SNP	1.000	T
CORT	1325	genome.wustl.edu	37	1	10510270	10510270	+	5'UTR	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:10510270C>T	ENST00000377049.3	+	0	495				CORT_ENST00000320498.4_Missense_Mutation_p.S47L|APITD1-CORT_ENST00000470413.2_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|APITD1_ENST00000602296.1_Intron	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		AAGCTCCAGTCAGCCCACAAG	0.642																																																	0													85.0	84.0	84.0					1																	10510270		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1325			AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"""Endogenous ligands"""	2257	protein-coding gene	gene with protein product	"""prepro-cortistatin"""	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.-11C>T	1.37:g.10510270C>T			Q5T6G0|Q6UX11	Missense_Mutation	SNP	pfam_Somatostatin/Cortistatin_C	p.S47L	ENST00000377049.3	37	c.140	CCDS117.2	1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788815	0.31685	.	.	ENSG00000241563	ENST00000320498	.	.	.	4.38	-1.71	0.08133	.	.	.	.	.	T	0.36166	0.0957	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39840	-0.9594	5	0.54805	T	0.06	-5.1967	6.197	0.20555	0.0:0.397:0.4175:0.1854	.	.	.	.	L	47	.	ENSP00000317110:S47L	S	+	2	0	CORT	10432857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.263000	0.18478	-0.278000	0.09180	-0.150000	0.13652	TCA	CORT	-	NULL		0.642	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CORT	HGNC	protein_coding	OTTHUMT00000005410.3	C	NM_001302		10510270	+1	no_errors	ENST00000320498	ensembl	human	known	70_37	missense	SNP	0.000	T
COX10	1352	genome.wustl.edu	37	17	14063216	14063216	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:14063216C>G	ENST00000261643.3	+	5	724	c.647C>G	c.(646-648)tCa>tGa	p.S216*	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Nonsense_Mutation_p.S24*	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	216					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCATTTGACTCAAACATGAAT	0.333																																																	0													85.0	77.0	79.0					17																	14063216		2203	4300	6503	SO:0001587	stop_gained	1352			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.647C>G	17.37:g.14063216C>G	ENSP00000261643:p.Ser216*		B2R6U5|B4DJ50|O15334|Q969F7	Nonsense_Mutation	SNP	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	p.S216*	ENST00000261643.3	37	c.647	CCDS11166.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.388816	0.97529	.	.	ENSG00000006695	ENST00000261643;ENST00000536205	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.9133	18.7239	0.91705	0.0:1.0:0.0:0.0	.	.	.	.	X	216;24	.	ENSP00000261643:S216X	S	+	2	0	COX10	14003941	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.142000	0.71750	2.687000	0.91594	0.655000	0.94253	TCA	COX10	-	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase		0.333	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX10	HGNC	protein_coding	OTTHUMT00000130003.1	C	NM_001303		14063216	+1	no_errors	ENST00000261643	ensembl	human	known	70_37	nonsense	SNP	1.000	G
COX7A2	1347	genome.wustl.edu	37	6	75953513	75953513	+	5'UTR	SNP	G	G	A	rs531403377		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:75953513G>A	ENST00000230459.4	-	0	131				COX7A2_ENST00000370081.2_Missense_Mutation_p.P12S|COX7A2_ENST00000472311.2_5'Flank|COX7A2_ENST00000509698.1_5'Flank|COX7A2_ENST00000460985.1_5'Flank|COX7A2_ENST00000370089.2_Missense_Mutation_p.P12S	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			kidney(2)|lung(1)	3						GGCCACGCCGGAACCGGAACT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19920	0.0		0.001	False		,,,				2504	0.0																0													107.0	117.0	114.0					6																	75953513		692	1591	2283	SO:0001623	5_prime_UTR_variant	1347			X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.-63C>T	6.37:g.75953513G>A			B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a	p.P12S	ENST00000230459.4	37	c.34		6	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249567	0.80024	.	.	ENSG00000112695	ENST00000370081;ENST00000370089	T;T	0.54675	0.56;0.56	5.66	5.66	0.87406	.	0.207947	0.24363	N	0.039172	T	0.43188	0.1236	N	0.22421	0.69	0.80722	D	1	.	.	.	.	.	.	T	0.50215	-0.8854	8	0.87932	D	0	-5.7758	16.6639	0.85247	0.0:0.0:1.0:0.0	.	.	.	.	S	12	ENSP00000359098:P12S;ENSP00000359106:P12S	ENSP00000359098:P12S	P	-	1	0	COX7A2	76010233	1.000000	0.71417	0.977000	0.42913	0.961000	0.63080	2.508000	0.45450	2.653000	0.90120	0.561000	0.74099	CCG	COX7A2	-	NULL		0.517	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	COX7A2	HGNC	protein_coding		G	NM_001865		75953513	-1	no_errors	ENST00000370081	ensembl	human	known	70_37	missense	SNP	1.000	A
CPS1	1373	genome.wustl.edu	37	2	211467045	211467045	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:211467045C>T	ENST00000233072.5	+	16	2023	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L	CPS1_ENST00000451903.2_Silent_p.L158L|CPS1_ENST00000430249.2_Silent_p.L615L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	609	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGATGGACCTCAGCACAAAGG	0.433																																																	0													135.0	125.0	128.0					2																	211467045		2203	4300	6503	SO:0001819	synonymous_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1827C>T	2.37:g.211467045C>T			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.L615	ENST00000233072.5	37	c.1845	CCDS2393.1	2																																																																																			CPS1	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu		0.433	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	C			211467045	+1	no_errors	ENST00000430249	ensembl	human	known	70_37	silent	SNP	0.646	T
CRLF1	9244	genome.wustl.edu	37	19	18705208	18705208	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:18705208C>T	ENST00000392386.3	-	7	1254	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q	CRLF1_ENST00000594325.1_5'UTR	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	354					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTCTCCGCCCCGCGGTTCGCA	0.756																																																	0													8.0	8.0	8.0					19																	18705208		2169	4260	6429	SO:0001583	missense	9244			AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1061G>A	19.37:g.18705208C>T	ENSP00000376188:p.Arg354Gln		Q9UHH5	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R354Q	ENST00000392386.3	37	c.1061	CCDS32962.1	19	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919583	0.73098	.	.	ENSG00000006016	ENST00000392386	D	0.81579	-1.51	3.91	3.91	0.45181	.	0.130632	0.51477	D	0.000094	T	0.60508	0.2274	N	0.14661	0.345	0.31637	N	0.648261	B	0.25955	0.138	B	0.11329	0.006	T	0.59878	-0.7371	10	0.27082	T	0.32	-28.0209	7.3085	0.26461	0.0:0.8805:0.0:0.1195	.	354	O75462	CRLF1_HUMAN	Q	354	ENSP00000376188:R354Q	ENSP00000376188:R354Q	R	-	2	0	CRLF1	18566208	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.493000	0.60341	2.017000	0.59298	0.491000	0.48974	CGG	CRLF1	-	NULL		0.756	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLF1	HGNC	protein_coding	OTTHUMT00000465129.1	C			18705208	-1	no_errors	ENST00000392386	ensembl	human	known	70_37	missense	SNP	1.000	T
CTC1	80169	genome.wustl.edu	37	17	8137855	8137855	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:8137855G>A	ENST00000315684.8	-	10	1743	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	579					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGCAGGTAGGAGGCCTCCGG	0.647																																																	0													23.0	29.0	27.0					17																	8137855		1997	4162	6159	SO:0001583	missense	80169			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1736C>T	17.37:g.8137855G>A	ENSP00000313759:p.Ser579Phe		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.S579F	ENST00000315684.8	37	c.1736	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	g	6.063	0.380016	0.11466	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83837	-1.77;-1.77	5.44	0.87	0.19102	.	1.796040	0.02462	N	0.086697	T	0.73521	0.3597	L	0.31294	0.92	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.56238	-0.8012	10	0.41790	T	0.15	-1.2097	3.5041	0.07684	0.0836:0.1469:0.4663:0.3032	.	579	Q2NKJ3	CTC1_HUMAN	F	579;544	ENSP00000313759:S579F;ENSP00000396018:S544F	ENSP00000313759:S579F	S	-	2	0	CTC1	8078580	0.002000	0.14202	0.003000	0.11579	0.052000	0.14988	0.471000	0.22100	0.255000	0.21593	0.500000	0.49745	TCC	CTC1	-	NULL		0.647	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	G	NM_025099		8137855	-1	no_errors	ENST00000315684	ensembl	human	known	70_37	missense	SNP	0.000	A
CTNND1	1500	genome.wustl.edu	37	11	57575940	57575940	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:57575940G>A	ENST00000399050.4	+	14	2706	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	CTNND1_ENST00000531014.1_Missense_Mutation_p.E395K|CTNND1_ENST00000361391.6_Missense_Mutation_p.E718K|CTNND1_ENST00000527467.1_Missense_Mutation_p.E401K|CTNND1_ENST00000529526.1_Missense_Mutation_p.E664K|CTNND1_ENST00000526357.1_Missense_Mutation_p.E664K|CTNND1_ENST00000526772.1_Missense_Mutation_p.E395K|CTNND1_ENST00000525902.1_Missense_Mutation_p.E401K|CTNND1_ENST00000532844.1_Missense_Mutation_p.E670K|CTNND1_ENST00000358694.6_Missense_Mutation_p.E718K|CTNND1_ENST00000526938.1_Missense_Mutation_p.E724K|CTNND1_ENST00000529919.1_Missense_Mutation_p.E724K|CTNND1_ENST00000415361.2_Missense_Mutation_p.E623K|CTNND1_ENST00000528621.1_Missense_Mutation_p.E664K|CTNND1_ENST00000529986.1_Missense_Mutation_p.E617K|CTNND1_ENST00000532463.1_Missense_Mutation_p.E617K|CTNND1_ENST00000530748.1_Missense_Mutation_p.E670K|CTNND1_ENST00000428599.2_Missense_Mutation_p.E718K|CTNND1_ENST00000533667.1_Missense_Mutation_p.E395K|CTNND1_ENST00000360682.6_Missense_Mutation_p.E724K|CTNND1_ENST00000361332.4_Missense_Mutation_p.E718K|CTNND1_ENST00000532787.1_Missense_Mutation_p.E617K|CTNND1_ENST00000529873.1_Missense_Mutation_p.E664K|CTNND1_ENST00000524630.1_Missense_Mutation_p.E718K|CTNND1_ENST00000534579.1_Missense_Mutation_p.E664K|CTNND1_ENST00000530094.1_Missense_Mutation_p.E617K|CTNND1_ENST00000426142.2_Missense_Mutation_p.E617K|CTNND1_ENST00000532649.1_Missense_Mutation_p.E664K|CTNND1_ENST00000532245.1_Missense_Mutation_p.E617K|CTNND1_ENST00000361796.4_Missense_Mutation_p.E718K|CTNND1_ENST00000528232.1_Missense_Mutation_p.E623K|CTNND1_ENST00000399039.4_Missense_Mutation_p.E724K	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	724					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TAATGAACATGAACGGGTGGT	0.468																																																	0													94.0	97.0	96.0					11																	57575940		2040	4200	6240	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2170G>A	11.37:g.57575940G>A	ENSP00000382004:p.Glu724Lys		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E724K	ENST00000399050.4	37	c.2170	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.678508	0.96764	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.051527	0.85682	D	0.000000	T	0.74107	0.3673	L	0.46157	1.445	0.80722	D	1	P;P;D;P;P;P;P;P;P	0.53619	0.902;0.902;0.961;0.952;0.952;0.952;0.936;0.902;0.92	B;B;P;P;P;P;P;B;P	0.50082	0.415;0.415;0.63;0.496;0.496;0.496;0.57;0.415;0.551	T	0.77346	-0.2622	10	0.87932	D	0	-2.8129	18.8697	0.92308	0.0:0.0:1.0:0.0	.	724;718;724;617;664;664;718;724;724	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	K	718;724;724;724;718;664;617;724;718;718;617;617;718;617;395;664;664;670;718;401;623;395;395;664;401;670;664;617;623;617;664;724	ENSP00000436543:E718K;ENSP00000434808:E724K;ENSP00000381996:E724K;ENSP00000353902:E724K;ENSP00000354907:E718K;ENSP00000436323:E664K;ENSP00000409930:E617K;ENSP00000382004:E724K;ENSP00000354785:E718K;ENSP00000354823:E718K;ENSP00000432075:E617K;ENSP00000437156:E617K;ENSP00000351527:E718K;ENSP00000434949:E617K;ENSP00000437051:E395K;ENSP00000435379:E664K;ENSP00000432243:E664K;ENSP00000436744:E670K;ENSP00000413586:E718K;ENSP00000434900:E401K;ENSP00000435266:E623K;ENSP00000432623:E395K;ENSP00000433158:E395K;ENSP00000435494:E664K;ENSP00000434672:E401K;ENSP00000433276:E670K;ENSP00000433334:E664K;ENSP00000437327:E617K;ENSP00000403518:E623K;ENSP00000434017:E617K;ENSP00000435789:E664K;ENSP00000432041:E724K	ENSP00000351527:E718K	E	+	1	0	CTNND1	57332516	1.000000	0.71417	0.962000	0.40283	0.896000	0.52359	9.476000	0.97823	2.570000	0.86706	0.467000	0.42956	GAA	CTNND1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.468	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	G	NM_001331		57575940	+1	no_errors	ENST00000399050	ensembl	human	known	70_37	missense	SNP	1.000	A
CTU1	90353	genome.wustl.edu	37	19	51607718	51607718	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:51607718C>T	ENST00000421832.2	-	2	153	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_145232.3	NP_660275.2			cytosolic thiouridylase subunit 1											large_intestine(2)|lung(1)|urinary_tract(1)	4						TGCAGCACCTCGGCCTCGAAG	0.776																																																	0													1.0	1.0	1.0					19																	51607718		861	1830	2691	SO:0001583	missense	90353				CCDS12824.1	19q13.41	2013-05-31	2013-05-31	2009-08-19		ENSG00000142544			29590	protein-coding gene	gene with protein product		612694	"""ATP binding domain 3"", ""cytosolic thiouridylase subunit 1 homolog (S. pombe)"""	ATPBD3		19017811	Standard	NM_145232		Approved	MGC17332, NCS6	uc010eop.3	Q7Z7A3		ENST00000421832.2:c.109G>A	19.37:g.51607718C>T	ENSP00000390011:p.Glu37Lys			Missense_Mutation	SNP	pfam_tRNA-lysidine/thiocyt_synth,pirsf_2-thiocytidine_tRNA_synth_TtcA	p.E37K	ENST00000421832.2	37	c.109	CCDS12824.1	19	.	.	.	.	.	.	.	.	.	.	.	29.6	5.019269	0.93462	.	.	ENSG00000142544	ENST00000421832	T	0.24151	1.87	4.18	3.14	0.36123	.	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	M	0.71581	2.175	0.58432	D	0.999999	B	0.25169	0.119	B	0.17979	0.02	T	0.06250	-1.0837	10	0.49607	T	0.09	-21.1236	9.6495	0.39888	0.0:0.8946:0.0:0.1054	.	37	Q7Z7A3	CTU1_HUMAN	K	37	ENSP00000390011:E37K	ENSP00000390011:E37K	E	-	1	0	CTU1	56299530	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.186000	0.58337	0.741000	0.32674	0.557000	0.71058	GAG	CTU1	-	pirsf_2-thiocytidine_tRNA_synth_TtcA		0.776	CTU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTU1	HGNC	protein_coding	OTTHUMT00000464292.1	C	NM_145232		51607718	-1	no_errors	ENST00000421832	ensembl	human	known	70_37	missense	SNP	1.000	T
CUBN	8029	genome.wustl.edu	37	10	16975228	16975228	+	Silent	SNP	C	C	T	rs560009723		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:16975228C>T	ENST00000377833.4	-	40	6047	c.5982G>A	c.(5980-5982)ccG>ccA	p.P1994P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1994	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.G1995C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGCCAGCCCGGGGAGAAGA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		17990	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)											98.0	84.0	89.0					10																	16975228		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5982G>A	10.37:g.16975228C>T			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.P1994	ENST00000377833.4	37	c.5982	CCDS7113.1	10																																																																																			CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.507	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		16975228	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	silent	SNP	0.105	T
CUEDC2	79004	genome.wustl.edu	37	10	104184490	104184490	+	Missense_Mutation	SNP	G	G	A	rs201349133		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:104184490G>A	ENST00000369937.4	-	3	279	c.134C>T	c.(133-135)tCg>tTg	p.S45L	CUEDC2_ENST00000465409.1_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	45						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGATGGGCCCGAGGGGCCCAG	0.587																																																	0													55.0	59.0	58.0					10																	104184490		1902	4121	6023	SO:0001583	missense	79004			BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"""chromosome 10 open reading frame 66"""	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.134C>T	10.37:g.104184490G>A	ENSP00000358953:p.Ser45Leu		D3DR88|Q9BWG8	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,pfscan_CUE	p.S45L	ENST00000369937.4	37	c.134	CCDS41566.1	10	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543269	0.45280	.	.	ENSG00000107874	ENST00000369937	D	0.86030	-2.06	5.36	4.46	0.54185	.	0.193649	0.45361	D	0.000376	T	0.67373	0.2886	N	0.19112	0.55	0.31889	N	0.617433	D	0.54047	0.964	B	0.31191	0.125	T	0.74077	-0.3781	10	0.51188	T	0.08	-1.2319	8.4217	0.32705	0.078:0.0:0.7691:0.1529	.	45	Q9H467	CUED2_HUMAN	L	45	ENSP00000358953:S45L	ENSP00000358953:S45L	S	-	2	0	CUEDC2	104174480	1.000000	0.71417	0.830000	0.32933	0.986000	0.74619	5.468000	0.66743	1.410000	0.46936	0.561000	0.74099	TCG	CUEDC2	-	NULL		0.587	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUEDC2	HGNC	protein_coding	OTTHUMT00000050060.1	G	NM_024040		104184490	-1	no_errors	ENST00000369937	ensembl	human	known	70_37	missense	SNP	0.992	A
DCAF4L2	138009	genome.wustl.edu	37	8	88885075	88885075	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:88885075G>A	ENST00000319675.3	-	1	1221	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	375										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GTGCTCCTCGGAAGCCCCCGA	0.592																																																	0													54.0	60.0	58.0					8																	88885075		2203	4300	6503	SO:0001819	synonymous_variant	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1125C>T	8.37:g.88885075G>A				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F375	ENST00000319675.3	37	c.1125	CCDS6245.1	8																																																																																			DCAF4L2	-	NULL		0.592	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	G	NM_152418		88885075	-1	no_errors	ENST00000319675	ensembl	human	known	70_37	silent	SNP	0.414	A
CYC1	1537	genome.wustl.edu	37	8	145151377	145151377	+	Silent	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:145151377C>G	ENST00000318911.4	+	4	664	c.591C>G	c.(589-591)ctC>ctG	p.L197L		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	197	Cytochrome c.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCTGACCTCAGCTACATCG	0.577											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													115.0	108.0	111.0					8																	145151377		2203	4300	6503	SO:0001819	synonymous_variant	1537			BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.591C>G	8.37:g.145151377C>G		1692	Q5U062|Q6FHS7	Silent	SNP	pfam_Cyt_c1,superfamily_Cyt_c_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1	p.L197	ENST00000318911.4	37	c.591	CCDS6415.1	8																																																																																			CYC1	-	pfam_Cyt_c1,superfamily_Cyt_c_dom,prints_Cyt_c1		0.577	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYC1	HGNC	protein_coding	OTTHUMT00000382895.1	C	NM_001916		145151377	+1	no_errors	ENST00000318911	ensembl	human	known	70_37	silent	SNP	1.000	G
DCAF8L1	139425	genome.wustl.edu	37	X	27998204	27998204	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:27998204G>A	ENST00000441525.1	-	1	1362	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	416										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGTTGAAGAGGTAAATAT	0.428																																																	0													90.0	82.0	85.0					X																	27998204		2202	4300	6502	SO:0001819	synonymous_variant	139425				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1248C>T	X.37:g.27998204G>A			B3KXX1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L416	ENST00000441525.1	37	c.1248	CCDS35222.1	X																																																																																			DCAF8L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.428	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	HGNC	protein_coding	OTTHUMT00000056150.2	G	XM_066690		27998204	-1	no_errors	ENST00000441525	ensembl	human	known	70_37	silent	SNP	1.000	A
DCDC1	341019	genome.wustl.edu	37	11	31131824	31131824	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:31131824C>T	ENST00000597505.1	-	10	1569	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATCATATGGTCAGTTTGAATT	0.323																																																	0													80.0	75.0	76.0					11																	31131824		1842	4077	5919	SO:0001583	missense	100506627			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.1570G>A	11.37:g.31131824C>T	ENSP00000472625:p.Asp524Asn		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin	p.D524N	ENST00000597505.1	37	c.1570		11																																																																																			DCDC5	-	NULL		0.323	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC5	HGNC	protein_coding	OTTHUMT00000463167.1	C	NM_181807		31131824	-1	no_errors	ENST00000597505	ensembl	human	putative	70_37	missense	SNP	0.000	T
DDI2	84301	genome.wustl.edu	37	1	15978270	15978270	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:15978270G>A	ENST00000480945.1	+	8	1234	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	355							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTTTCTTCCTGAGGGAGAGCT	0.502																																																	0													73.0	73.0	73.0					1																	15978270		2203	4300	6503	SO:0001583	missense	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.1063G>A	1.37:g.15978270G>A	ENSP00000417748:p.Glu355Lys		A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin,superfamily_Peptidase_aspartic,pfscan_Ubiquitin_supergroup	p.E355K	ENST00000480945.1	37	c.1063	CCDS30607.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.583361	0.96578	.	.	ENSG00000197312	ENST00000480945	T	0.32023	1.47	5.41	5.41	0.78517	.	0.000000	0.85682	U	0.000000	T	0.59636	0.2208	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63761	-0.6564	10	0.87932	D	0	-5.7046	18.8189	0.92088	0.0:0.0:1.0:0.0	.	355	Q5TDH0	DDI2_HUMAN	K	355	ENSP00000417748:E355K	ENSP00000417748:E355K	E	+	1	0	DDI2	15850857	1.000000	0.71417	0.912000	0.35992	0.917000	0.54804	9.476000	0.97823	2.554000	0.86153	0.467000	0.42956	GAG	DDI2	-	NULL		0.502	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI2	HGNC	protein_coding	OTTHUMT00000006826.1	G	NM_032341		15978270	+1	no_errors	ENST00000480945	ensembl	human	known	70_37	missense	SNP	1.000	A
DDX18	8886	genome.wustl.edu	37	2	118586868	118586868	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:118586868G>C	ENST00000263239.2	+	13	1824	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	566	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTTCAGCTTGAGAAATTGAT	0.343																																																	0													53.0	57.0	56.0					2																	118586868		2197	4298	6495	SO:0001583	missense	8886			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1696G>C	2.37:g.118586868G>C	ENSP00000263239:p.Glu566Gln		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E566Q	ENST00000263239.2	37	c.1696	CCDS2120.1	2	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745664	0.69418	.	.	ENSG00000088205	ENST00000263239;ENST00000539346	T	0.02323	4.34	4.67	4.67	0.58626	Helicase, C-terminal (1);	0.703241	0.14753	N	0.300427	T	0.07324	0.0185	M	0.74258	2.255	0.80722	D	1	B	0.21071	0.051	B	0.29077	0.098	T	0.18650	-1.0330	10	0.34782	T	0.22	.	16.2848	0.82714	0.0:0.0:1.0:0.0	.	566	Q9NVP1	DDX18_HUMAN	Q	566;305	ENSP00000263239:E566Q	ENSP00000263239:E566Q	E	+	1	0	DDX18	118303338	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.946000	0.92992	2.595000	0.87683	0.650000	0.86243	GAG	DDX18	-	pfscan_Helicase_C		0.343	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	HGNC	protein_coding	OTTHUMT00000129632.3	G	NM_006773		118586868	+1	no_errors	ENST00000263239	ensembl	human	known	70_37	missense	SNP	1.000	C
DENND1C	79958	genome.wustl.edu	37	19	6471304	6471304	+	Missense_Mutation	SNP	G	G	A	rs544452638		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:6471304G>A	ENST00000381480.2	-	17	1374	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	DENND1C_ENST00000543576.1_Missense_Mutation_p.S377F	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	421					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GAGCTGATAGGATCGAAGGGC	0.602																																																	0													58.0	56.0	56.0					19																	6471304		1948	4144	6092	SO:0001583	missense	79958			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1262C>T	19.37:g.6471304G>A	ENSP00000370889:p.Ser421Phe		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S421F	ENST00000381480.2	37	c.1262	CCDS45938.1	19	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372175	0.61624	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.12465	2.85;2.68	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	M	0.71206	2.165	0.42502	D	0.992932	D	0.53885	0.963	P	0.58454	0.839	T	0.09335	-1.0679	10	0.09590	T	0.72	-34.6277	15.7618	0.78087	0.0:0.0:1.0:0.0	.	421	Q8IV53	DEN1C_HUMAN	F	421;377	ENSP00000370889:S421F;ENSP00000437805:S377F	ENSP00000370889:S421F	S	-	2	0	DENND1C	6422304	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	6.300000	0.72776	2.324000	0.78689	0.462000	0.41574	TCC	DENND1C	-	NULL		0.602	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1C	HGNC	protein_coding	OTTHUMT00000453332.2	G	NM_024898		6471304	-1	no_errors	ENST00000381480	ensembl	human	known	70_37	missense	SNP	1.000	A
DGKK	139189	genome.wustl.edu	37	X	50130629	50130629	+	RNA	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:50130629C>T	ENST00000376025.2	-	0	2100							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACCACAAAATCTTCCACAGCT	0.408																																																	0													85.0	70.0	75.0					X																	50130629		1893	4104	5997			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50130629C>T			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.408	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	C	NM_001013742		50130629	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	1.000	T
DHFRL1	200895	genome.wustl.edu	37	3	93780203	93780203	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:93780203C>T	ENST00000394221.2	-	2	602	c.153G>A	c.(151-153)gtG>gtA	p.V51V	NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Silent_p.V51V	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	51	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TACCCATAATCACCAGATTCT	0.463																																																	0													150.0	155.0	153.0					3																	93780203		2203	4300	6503	SO:0001819	synonymous_variant	200895			AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"""dihydrofolate reductase pseudogene 4"""	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.153G>A	3.37:g.93780203C>T			D3DN30|Q6P4I9	Silent	SNP	pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR	p.V51	ENST00000394221.2	37	c.153	CCDS2926.1	3																																																																																			DHFRL1	-	pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR		0.463	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHFRL1	HGNC	protein_coding	OTTHUMT00000352910.1	C	NM_176815		93780203	-1	no_errors	ENST00000314636	ensembl	human	known	70_37	silent	SNP	1.000	T
DHPS	1725	genome.wustl.edu	37	19	12792434	12792434	+	Missense_Mutation	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:12792434G>T	ENST00000210060.7	-	1	282	c.147C>A	c.(145-147)ttC>ttA	p.F49L	DHPS_ENST00000594424.1_5'Flank|DHPS_ENST00000599481.1_5'Flank|CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000351660.5_Missense_Mutation_p.F49L	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	49					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						CGGTGGTGCCGAAGGCCTCCA	0.632																																																	0													59.0	60.0	60.0					19																	12792434		2203	4300	6503	SO:0001583	missense	1725			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.147C>A	19.37:g.12792434G>T	ENSP00000210060:p.Phe49Leu		A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	p.F49L	ENST00000210060.7	37	c.147	CCDS12276.1	19	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223570	0.39300	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.42900	0.96;0.96	5.53	3.38	0.38709	.	0.343803	0.32015	N	0.006708	T	0.28863	0.0716	L	0.33339	1.005	0.38094	D	0.937041	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.18871	0.023;0.002;0.002	T	0.10359	-1.0633	10	0.19590	T	0.45	-11.7203	9.2865	0.37760	0.0813:0.1556:0.7631:0.0	.	49;49;49	Q5J8M5;P49366-2;P49366	.;.;DHYS_HUMAN	L	49	ENSP00000210060:F49L;ENSP00000221303:F49L	ENSP00000210060:F49L	F	-	3	2	DHPS	12653434	0.995000	0.38212	0.598000	0.28837	0.266000	0.26442	2.501000	0.45389	0.691000	0.31592	0.313000	0.20887	TTC	DHPS	-	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase		0.632	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHPS	HGNC	protein_coding	OTTHUMT00000462708.1	G	NM_001930		12792434	-1	no_errors	ENST00000210060	ensembl	human	known	70_37	missense	SNP	0.838	T
DKK3	27122	genome.wustl.edu	37	11	11985984	11985984	+	3'UTR	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:11985984C>A	ENST00000396505.2	-	0	1318				DKK3_ENST00000525493.1_3'UTR|DKK3_ENST00000326932.4_3'UTR|DKK3_ENST00000450094.2_3'UTR|DKK3_ENST00000527132.1_5'UTR	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3						adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		ATTTCTATTGCACATCTACCC	0.547																																																	0													86.0	105.0	99.0					11																	11985984		2201	4294	6495	SO:0001624	3_prime_UTR_variant	27122			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.*27G>T	11.37:g.11985984C>A			A8K1I2|D3DQW1|Q9ULB7	RNA	SNP	-	NULL	ENST00000396505.2	37	NULL	CCDS7808.1	11																																																																																			DKK3	-	-		0.547	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DKK3	HGNC	protein_coding	OTTHUMT00000385863.1	C	NM_013253		11985984	-1	no_errors	ENST00000527132	ensembl	human	known	70_37	rna	SNP	1.000	A
DMD	1756	genome.wustl.edu	37	X	31190490	31190490	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:31190490C>G	ENST00000357033.4	-	73	10575	c.10369G>C	c.(10369-10371)Gat>Cat	p.D3457H	DMD_ENST00000359836.1_Missense_Mutation_p.D984H|DMD_ENST00000378702.4_Missense_Mutation_p.D389H|DMD_ENST00000378680.2_Intron|DMD_ENST00000378677.2_Missense_Mutation_p.D3453H|DMD_ENST00000541735.1_Intron|DMD_ENST00000361471.4_Missense_Mutation_p.D376H|DMD_ENST00000343523.2_Intron|DMD_ENST00000474231.1_Missense_Mutation_p.D997H|DMD_ENST00000378707.3_Missense_Mutation_p.D997H|DMD_ENST00000378723.3_Missense_Mutation_p.D389H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3457					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAGATGCTATCATTTAGATAA	0.348																																																	0													142.0	115.0	124.0					X																	31190490		2202	4299	6501	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10369G>C	X.37:g.31190490C>G	ENSP00000354923:p.Asp3457His		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.D3457H	ENST00000357033.4	37	c.10369	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.484129|4.484129	0.84854|0.84854	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000378702;ENST00000474231;ENST00000361471|ENST00000465285	D;D;D;D;D;D;D;D;D|.	0.85861|.	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.37906|.	U|.	0.001890|.	T|.	0.79179|.	0.4402|.	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D;D;D;D;D;D;B;D|.	0.89917|.	0.502;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.984;1.0;1.0;0.439;1.0|.	P;D;D;D;D;D;D;D;D;D;D;B;D|.	0.91635|.	0.481;0.998;0.998;0.998;0.998;0.973;0.976;0.984;0.919;0.997;0.999;0.105;0.997|.	T|.	0.80779|.	-0.1230|.	10|.	0.72032|.	D|.	0.01|.	.|.	17.9679|17.9679	0.89105|0.89105	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3449;3457;3453;2116;2113;984;997;997;3334;376;389;376;389|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.|.	H|S	3449;2116;2113;389;1140;3453;3457;984;3457;3334;997;389;997;376|1185	ENSP00000367997:D389H;ENSP00000350765:D1140H;ENSP00000367948:D3453H;ENSP00000354923:D3457H;ENSP00000352894:D984H;ENSP00000367979:D997H;ENSP00000367974:D389H;ENSP00000417123:D997H;ENSP00000354464:D376H|.	ENSP00000354923:D3457H|.	D|X	-|-	1|2	0|2	DMD|DMD	31100411|31100411	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.416000|7.416000	0.80143|0.80143	2.433000|2.433000	0.82419|0.82419	0.600000|0.600000	0.82982|0.82982	GAT|TGA	DMD	-	pirsf_Dystrophin/utrophin		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		31190490	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH6	1768	genome.wustl.edu	37	2	85035553	85035553	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:85035553G>C	ENST00000237449.6	+	71	11634	c.11626G>C	c.(11626-11628)Gag>Cag	p.E3876Q	DNAH6_ENST00000389394.3_Missense_Mutation_p.E3876Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3876					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACTGGAAATGGAGGGTGCTTC	0.443																																																	0													160.0	140.0	146.0					2																	85035553		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.11626G>C	2.37:g.85035553G>C	ENSP00000237449:p.Glu3876Gln		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3876Q	ENST00000237449.6	37	c.11626	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640004	0.87760	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.09445	2.98;2.98	5.65	5.65	0.86999	Dynein heavy chain (1);	0.291480	0.26224	N	0.025616	T	0.16938	0.0407	L	0.55990	1.75	0.80722	D	1	P	0.36837	0.571	B	0.39935	0.314	T	0.00478	-1.1715	10	0.66056	D	0.02	.	17.5756	0.87947	0.0:0.0:1.0:0.0	.	3876	Q9C0G6	DYH6_HUMAN	Q	3876	ENSP00000374045:E3876Q;ENSP00000237449:E3876Q	ENSP00000237449:E3876Q	E	+	1	0	DNAH6	84889064	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.570000	0.82390	2.819000	0.97034	0.643000	0.83706	GAG	DNAH6	-	pfam_Dynein_heavy_dom		0.443	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		85035553	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAJC12	56521	genome.wustl.edu	37	10	69565485	69565485	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:69565485G>A	ENST00000225171.2	-	4	510	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	RNU6-1250P_ENST00000391218.1_RNA|DNAJC12_ENST00000483798.2_Missense_Mutation_p.H150Y	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	120										breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TTGGTGGTATGAGTCTTGTCA	0.383																																																	0													125.0	128.0	127.0					10																	69565485		2203	4300	6503	SO:0001583	missense	56521			AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"""Heat shock proteins / DNAJ (HSP40)"""	28908	protein-coding gene	gene with protein product	"""J domain protein 1"""	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.358C>T	10.37:g.69565485G>A	ENSP00000225171:p.His120Tyr		Q5JVQ1|Q9UKB2	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.H120Y	ENST00000225171.2	37	c.358	CCDS7271.1	10	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.377825	0.00207	.	.	ENSG00000108176	ENST00000225171	T	0.31247	1.5	5.72	2.73	0.32206	.	1.118890	0.06595	N	0.752808	T	0.12390	0.0301	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36720	-0.9736	10	0.02654	T	1	-7.8657	3.2478	0.06803	0.1721:0.1451:0.5493:0.1335	.	120	Q9UKB3	DJC12_HUMAN	Y	120	ENSP00000225171:H120Y	ENSP00000225171:H120Y	H	-	1	0	DNAJC12	69235491	0.000000	0.05858	0.073000	0.20177	0.011000	0.07611	0.468000	0.22051	1.385000	0.46445	0.655000	0.94253	CAT	DNAJC12	-	NULL		0.383	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC12	HGNC	protein_coding	OTTHUMT00000048291.1	G	NM_021800		69565485	-1	no_errors	ENST00000225171	ensembl	human	known	70_37	missense	SNP	0.000	A
DPCR1	135656	genome.wustl.edu	37	6	30920820	30920820	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:30920820G>A	ENST00000462446.1	+	3	4136	c.4108G>A	c.(4108-4110)Ggc>Agc	p.G1370S	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.G212S			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	494						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GGATGAGGGTGGCCCCAATTC	0.567																																																	0													160.0	114.0	130.0					6																	30920820		2203	4300	6503	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.4108G>A	6.37:g.30920820G>A	ENSP00000417182:p.Gly1370Ser		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.G212S	ENST00000462446.1	37	c.634	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733783	0.69189	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.35421	1.31;1.42	3.82	1.95	0.26073	.	.	.	.	.	T	0.24392	0.0591	L	0.41824	1.3	0.21064	N	0.999794	D	0.60160	0.987	D	0.63488	0.915	T	0.07462	-1.0771	9	0.23302	T	0.38	-6.0604	6.8106	0.23802	0.2285:0.0:0.7715:0.0	.	1370	E9PEI6	.	S	1370;494;212	ENSP00000417182:G1370S;ENSP00000305948:G212S	ENSP00000305948:G212S	G	+	1	0	DPCR1	31028799	0.186000	0.23225	0.517000	0.27799	0.914000	0.54420	0.787000	0.26858	0.355000	0.24131	0.574000	0.79327	GGC	DPCR1	-	NULL		0.567	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	G	NM_080870		30920820	+1	no_errors	ENST00000304311	ensembl	human	known	70_37	missense	SNP	0.569	A
DPY19L4	286148	genome.wustl.edu	37	8	95738627	95738627	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:95738627G>A	ENST00000414645.2	+	2	184	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	29						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGCCAAAGAAGAGAAAATCAG	0.348																																																	0													65.0	70.0	68.0					8																	95738627		2203	4300	6503	SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.85G>A	8.37:g.95738627G>A	ENSP00000389630:p.Glu29Lys		Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	pfam_Dpy-19	p.E29K	ENST00000414645.2	37	c.85	CCDS34924.1	8	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078621	0.76528	.	.	ENSG00000156162	ENST00000522422;ENST00000414645;ENST00000519353	T	0.63913	-0.07	5.35	5.35	0.76521	.	0.059715	0.64402	D	0.000006	T	0.48333	0.1494	L	0.27053	0.805	0.47341	D	0.999391	B	0.02656	0.0	B	0.04013	0.001	T	0.37526	-0.9702	10	0.27785	T	0.31	-6.2946	13.3962	0.60853	0.0767:0.0:0.9233:0.0	.	29	Q7Z388	D19L4_HUMAN	K	29;29;2	ENSP00000389630:E29K	ENSP00000389630:E29K	E	+	1	0	DPY19L4	95807803	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.724000	0.38064	2.660000	0.90430	0.655000	0.94253	GAG	DPY19L4	-	NULL		0.348	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L4	HGNC	protein_coding	OTTHUMT00000379339.1	G	NM_181787		95738627	+1	no_errors	ENST00000414645	ensembl	human	known	70_37	missense	SNP	1.000	A
DYDC2	84332	genome.wustl.edu	37	10	82126684	82126684	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:82126684C>T	ENST00000372199.1	+	6	1109	c.511C>T	c.(511-513)Cct>Tct	p.P171S	DYDC2_ENST00000444807.2_Missense_Mutation_p.P171S|DYDC2_ENST00000256039.2_Missense_Mutation_p.P171S|DYDC2_ENST00000372198.1_Missense_Mutation_p.P185S|DYDC2_ENST00000372197.1_Missense_Mutation_p.P171S			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	171										breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			TGAAATGCCTCCTGGCTCCAA	0.418																																																	0													110.0	119.0	116.0					10																	82126684		2201	4300	6501	SO:0001583	missense	84332			BC018606	CCDS7367.1, CCDS58088.1	10q23.1	2006-06-16			ENSG00000133665	ENSG00000133665			23468	protein-coding gene	gene with protein product						12477932	Standard	NM_032372		Approved	bA36D19.6, MGC16186	uc031pwk.1	Q96IM9	OTTHUMG00000018610	ENST00000372199.1:c.511C>T	10.37:g.82126684C>T	ENSP00000361273:p.Pro171Ser		D3DWD6|Q5QP07|Q5QP11	Missense_Mutation	SNP	pfam_Dpy-30_motif	p.P185S	ENST00000372199.1	37	c.553	CCDS7367.1	10	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274079	0.23221	.	.	ENSG00000133665	ENST00000372199;ENST00000372198;ENST00000372197;ENST00000444807;ENST00000256039	T;T;T;T;T	0.61158	0.24;0.13;0.24;0.24;0.24	4.21	-3.06	0.05379	.	2.368460	0.01752	N	0.029962	T	0.34483	0.0899	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.13361	-1.0512	10	0.13108	T	0.6	0.4907	5.7311	0.18040	0.0:0.2655:0.1554:0.5791	.	171	Q96IM9	DYDC2_HUMAN	S	171;185;171;171;171	ENSP00000361273:P171S;ENSP00000361272:P185S;ENSP00000361271:P171S;ENSP00000410285:P171S;ENSP00000256039:P171S	ENSP00000256039:P171S	P	+	1	0	DYDC2	82116664	0.000000	0.05858	0.000000	0.03702	0.362000	0.29581	-0.506000	0.06359	-0.596000	0.05821	-0.982000	0.02568	CCT	DYDC2	-	NULL		0.418	DYDC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYDC2	HGNC	protein_coding	OTTHUMT00000049063.1	C	NM_032372		82126684	+1	no_errors	ENST00000372198	ensembl	human	known	70_37	missense	SNP	0.000	T
DZIP3	9666	genome.wustl.edu	37	3	108361302	108361302	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:108361302C>G	ENST00000361582.3	+	13	1312	c.1082C>G	c.(1081-1083)tCt>tGt	p.S361C	DZIP3_ENST00000463306.1_Missense_Mutation_p.S361C	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	361					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGTTGATATCTCTGAAAATA	0.264																																																	0													21.0	21.0	21.0					3																	108361302		2112	4124	6236	SO:0001583	missense	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1082C>G	3.37:g.108361302C>G	ENSP00000355028:p.Ser361Cys		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S361C	ENST00000361582.3	37	c.1082	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987359	0.53934	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.52057	0.68;0.68;0.68	4.93	4.04	0.47022	.	0.457796	0.19181	N	0.120683	T	0.46502	0.1396	N	0.14661	0.345	0.32846	D	0.505961	D;D	0.76494	0.969;0.999	P;P	0.61800	0.694;0.894	T	0.59721	-0.7401	10	0.72032	D	0.01	-4.4942	10.7539	0.46225	0.1898:0.8102:0.0:0.0	.	361;361	C9J9M8;Q86Y13	.;DZIP3_HUMAN	C	361	ENSP00000355028:S361C;ENSP00000418115:S361C;ENSP00000419981:S361C	ENSP00000355028:S361C	S	+	2	0	DZIP3	109843992	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.886000	0.39688	1.420000	0.47138	0.655000	0.94253	TCT	DZIP3	-	NULL		0.264	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	C	NM_014648		108361302	+1	no_errors	ENST00000361582	ensembl	human	known	70_37	missense	SNP	1.000	G
EFEMP1	2202	genome.wustl.edu	37	2	56149652	56149652	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:56149652G>A	ENST00000394555.2	-	2	429				EFEMP1_ENST00000394554.1_Intron|EFEMP1_ENST00000355426.3_Intron|EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000497698.1_5'UTR	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1						epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTTTAGCAGTGAGCACAAGCG	0.468																																					GBM(92;934 1319 7714 28760 40110)												0																																										SO:0001627	intron_variant	2202			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.7-70C>T	2.37:g.56149652G>A			A8K3I4|B4DW75|D6W5D2|Q541U7	RNA	SNP	-	NULL	ENST00000394555.2	37	NULL	CCDS1857.1	2																																																																																			EFEMP1	-	-		0.468	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	HGNC	protein_coding	OTTHUMT00000251491.2	G			56149652	-1	no_errors	ENST00000497698	ensembl	human	known	70_37	rna	SNP	0.000	A
ELK4	2005	genome.wustl.edu	37	1	205592829	205592829	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:205592829C>T	ENST00000357992.4	-	2	521	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	ELK4_ENST00000289703.4_Missense_Mutation_p.R61Q|ELK4_ENST00000468523.1_5'UTR	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	61					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCTGAGGGCTCGGCTGAGTTT	0.453			T	SLC45A3	prostate																																			Dom	yes		1	1q32	2005	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""		E	0													208.0	219.0	215.0					1																	205592829		2203	4300	6503	SO:0001583	missense	2005			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.182G>A	1.37:g.205592829C>T	ENSP00000350681:p.Arg61Gln		P28323|Q6GSJ2	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.R61Q	ENST00000357992.4	37	c.182	CCDS1456.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.760154	0.96898	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.70399	-0.48;-0.48	5.58	5.58	0.84498	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.91918	0.5545	10	0.87932	D	0	.	18.4943	0.90858	0.0:1.0:0.0:0.0	.	61;61	P28324-2;P28324	.;ELK4_HUMAN	Q	151;61;61	ENSP00000350681:R61Q;ENSP00000289703:R61Q	ENSP00000289703:R61Q	R	-	2	0	ELK4	203859452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.778000	0.95560	0.655000	0.94253	CGA	ELK4	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets		0.453	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK4	HGNC	protein_coding	OTTHUMT00000090615.1	C	NM_021795		205592829	-1	no_errors	ENST00000357992	ensembl	human	known	70_37	missense	SNP	1.000	T
ELL	8178	genome.wustl.edu	37	19	18572604	18572604	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:18572604C>T	ENST00000262809.4	-	5	599	c.528G>A	c.(526-528)cgG>cgA	p.R176R	ELL_ENST00000596124.3_Silent_p.R43R	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	176					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TTGCCCGCTTCCGGGAGGGCA	0.622			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													68.0	70.0	69.0					19																	18572604		2203	4300	6503	SO:0001819	synonymous_variant	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.528G>A	19.37:g.18572604C>T		726		Silent	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.R176	ENST00000262809.4	37	c.528	CCDS12380.1	19																																																																																			ELL	-	pfam_RNA_pol_II_elong_fac_ELL		0.622	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1	C	NM_006532		18572604	-1	no_errors	ENST00000262809	ensembl	human	known	70_37	silent	SNP	1.000	T
ELL2	22936	genome.wustl.edu	37	5	95255153	95255153	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:95255153C>G	ENST00000237853.4	-	3	641	c.292G>C	c.(292-294)Gac>Cac	p.D98H	ELL2_ENST00000431061.2_Missense_Mutation_p.D98H|ELL2_ENST00000506628.1_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	98					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGGATGCAGTCAAAGCTGCCC	0.348																																																	0													89.0	96.0	94.0					5																	95255153		2203	4300	6503	SO:0001583	missense	22936			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.292G>C	5.37:g.95255153C>G	ENSP00000237853:p.Asp98His		B4DNK7	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.D98H	ENST00000237853.4	37	c.292	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772788	0.90108	.	.	ENSG00000118985	ENST00000237853;ENST00000431061	T;T	0.36699	1.24;1.24	5.89	5.89	0.94794	.	0.043727	0.85682	D	0.000000	T	0.67031	0.2850	M	0.85041	2.73	0.40824	D	0.98353	D	0.89917	1.0	D	0.77004	0.989	T	0.71484	-0.4579	10	0.87932	D	0	-4.8336	19.8527	0.96746	0.0:1.0:0.0:0.0	.	98	O00472	ELL2_HUMAN	H	98	ENSP00000237853:D98H;ENSP00000399704:D98H	ENSP00000237853:D98H	D	-	1	0	ELL2	95280909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.334000	0.79224	2.783000	0.95769	0.655000	0.94253	GAC	ELL2	-	pfam_RNA_pol_II_elong_fac_ELL		0.348	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	HGNC	protein_coding	OTTHUMT00000242846.1	C	NM_012081		95255153	-1	no_errors	ENST00000237853	ensembl	human	known	70_37	missense	SNP	1.000	G
EML6	400954	genome.wustl.edu	37	2	55193939	55193939	+	Intron	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:55193939G>T	ENST00000356458.6	+	38	6013				EML6_ENST00000490828.1_3'UTR	NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6							cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						GAAAATGGATGAGAAGAAAGA	0.488																																																	0																																										SO:0001627	intron_variant	400954				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.5494-197G>T	2.37:g.55193939G>T			A8MUB5|B6ZDG7	RNA	SNP	-	NULL	ENST00000356458.6	37	NULL	CCDS46286.1	2																																																																																			EML6	-	-		0.488	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	G	XM_001725002		55193939	+1	no_errors	ENST00000490828	ensembl	human	known	70_37	rna	SNP	0.012	T
EML6	400954	genome.wustl.edu	37	2	55193953	55193953	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:55193953G>A	ENST00000356458.6	+	38	6013				EML6_ENST00000490828.1_3'UTR	NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6							cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						AGAAAGATGGGAAAATGGCCT	0.517																																																	0																																										SO:0001627	intron_variant	400954				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.5494-183G>A	2.37:g.55193953G>A			A8MUB5|B6ZDG7	RNA	SNP	-	NULL	ENST00000356458.6	37	NULL	CCDS46286.1	2																																																																																			EML6	-	-		0.517	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	G	XM_001725002		55193953	+1	no_errors	ENST00000490828	ensembl	human	known	70_37	rna	SNP	0.008	A
Unknown	0	genome.wustl.edu	37	GL000205.1	117582	117582	+	IGR	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrGL000205.1:117582C>T								None (None upstream) : None (None downstream)																							AAGAGACAGCCGACTCCACCA	0.612																																																	0																																										SO:0001628	intergenic_variant	0																															GL000205.1.37:g.117582C>T				Silent	SNP	pfam_D-isomer_2_OHA_DH_cat_dom	p.A71		37	c.213		GL000205.1																																																																																			AC011841.1	-	pfam_D-isomer_2_OHA_DH_cat_dom	0	0.612					ENSG00000212884	Clone_based_ensembl_gene			C			117582	+1	no_errors	ENST00000391571	ensembl	human	known	70_37	silent	SNP	NULL	T
ZNF971P	100419895	genome.wustl.edu	37	16	34681533	34681533	+	RNA	SNP	G	G	A	rs567851865	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:34681533G>A	ENST00000568619.1	-	0	946																											TGATGGCTACGAAGATGATTG	0.383													.|||	2	0.000399361	0.0	0.0	5008	,	,		17084	0.0		0.001	False		,,,				2504	0.001																0																																												0																															16.37:g.34681533G>A				RNA	SNP	-	NULL	ENST00000568619.1	37	NULL		16																																																																																			RP11-80F22.10	-	-		0.383	RP11-80F22.10-002	KNOWN	basic	processed_transcript	ENSG00000214581	Clone_based_vega_gene	pseudogene	OTTHUMT00000431371.1	G			34681533	-1	no_errors	ENST00000568619	ensembl	human	known	70_37	rna	SNP	0.057	A
GS1-256O22.5	0	genome.wustl.edu	37	X	142534107	142534107	+	RNA	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:142534107G>A	ENST00000431432.1	+	0	268				AL030997.1_ENST00000408578.1_RNA																							tacttatgctgaagtaccaat	0.303																																																	0																																												0																															X.37:g.142534107G>A				RNA	SNP	-	NULL	ENST00000431432.1	37	NULL		X																																																																																			AL030997.1	-	-		0.303	GS1-256O22.5-001	KNOWN	basic	antisense	ENSG00000221505	Clone_based_ensembl_gene	antisense	OTTHUMT00000058622.1	G			142534107	-1	no_errors	ENST00000408578	ensembl	human	novel	70_37	rna	SNP	0.001	A
FAM91A3P	729182	genome.wustl.edu	37	1	149262800	149262800	+	lincRNA	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:149262800C>G	ENST00000325963.8	+	0	2347																											GAAGTCAGCTCTGTCTGGTTT	0.468																																																	0																																												0																															1.37:g.149262800C>G				RNA	SNP	-	NULL	ENST00000325963.8	37	NULL		1																																																																																			RP11-403I13.4	-	-		0.468	RP11-403I13.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000223779	Clone_based_vega_gene	lincRNA	OTTHUMT00000099551.1	C			149262800	+1	no_errors	ENST00000325963	ensembl	human	known	70_37	rna	SNP	1.000	G
KRT16P6	353194	genome.wustl.edu	37	17	16722356	16722356	+	RNA	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:16722356C>G	ENST00000602730.1	+	0	6486				AC022596.6_ENST00000417510.1_RNA																							TTCTGCTGCTCCATCTCGCAG	0.617																																																	0																																												0																															17.37:g.16722356C>G				RNA	SNP	-	NULL	ENST00000602730.1	37	NULL		17																																																																																			AC022596.6	-	-		0.617	RP11-219A15.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000226145	Clone_based_vega_gene	processed_transcript	OTTHUMT00000468034.1	C			16722356	-1	no_errors	ENST00000417510	ensembl	human	known	70_37	rna	SNP	1.000	G
CCL3	6348	genome.wustl.edu	37	17	34416789	34416789	+	Intron	SNP	C	C	T	rs78599004	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:34416789C>T	ENST00000225245.5	-	2	156				AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000441575.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3						astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAAATGTCTCTTTGTTTCTG	0.473																																																	0																																										SO:0001627	intron_variant	0			M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"""Chemokine ligands"", ""Endogenous ligands"""	10627	protein-coding gene	gene with protein product		182283	"""small inducible cytokine A3 (homologous to mouse Mip-1a)"""	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.74-146G>A	17.37:g.34416789C>T				RNA	SNP	-	NULL	ENST00000225245.5	37	NULL	CCDS11307.1	17																																																																																			AC069363.1	-	-		0.473	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224298	Clone_based_vega_gene	protein_coding	OTTHUMT00000256581.1	C	NM_002983		34416789	+1	no_errors	ENST00000592728	ensembl	human	known	70_37	rna	SNP	0.496	T
GNB1	2782	genome.wustl.edu	37	1	1823744	1823744	+	5'Flank	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:1823744C>G	ENST00000378609.4	-	0	0				RP1-140A9.1_ENST00000412228.1_RNA|GNB1_ENST00000472614.2_5'Flank	NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CGTTTTCCTTCTTGTTTTGTG	0.582																																																	0																																										SO:0001631	upstream_gene_variant	0			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940		1.37:g.1823744C>G	Exception_encountered		B1AJZ7|P04697|P04901|Q1RMY8	RNA	SNP	-	NULL	ENST00000378609.4	37	NULL	CCDS34.1	1																																																																																			RP1-140A9.1	-	-		0.582	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000231050	Clone_based_vega_gene	protein_coding	OTTHUMT00000002762.3	C	NM_002074		1823744	+1	no_errors	ENST00000412228	ensembl	human	known	70_37	rna	SNP	0.000	G
ZNF286A	57335	genome.wustl.edu	37	17	15638647	15638647	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:15638647G>A	ENST00000413242.2	+	7	2049				TBC1D26_ENST00000437605.2_Intron|TBC1D26_ENST00000579428.1_Intron|ZNF286A_ENST00000593105.1_Intron|AC005324.6_ENST00000434017.1_RNA			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A						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)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GCCTTGGGATGACTTTGTCTT	0.542																																																	0													111.0	117.0	115.0					17																	15638647		1984	4167	6151	SO:0001627	intron_variant	0			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000413242.2:c.1563+263G>A	17.37:g.15638647G>A			B4DKF9|Q96JF3	RNA	SNP	-	NULL	ENST00000413242.2	37	NULL	CCDS11172.1	17																																																																																			AC005324.6	-	-		0.542	ZNF286A-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	ENSG00000233002	Clone_based_vega_gene	protein_coding	OTTHUMT00000130697.4	G	NM_020652		15638647	-1	no_errors	ENST00000434017	ensembl	human	known	70_37	rna	SNP	0.001	A
IFT80	57560	genome.wustl.edu	37	3	159995098	159995098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:159995098C>A	ENST00000326448.7	-	18	2527	c.2095G>T	c.(2095-2097)Gaa>Taa	p.E699*	IFT80_ENST00000483465.1_Nonsense_Mutation_p.E562*|RP11-432B6.3_ENST00000483754.1_Nonsense_Mutation_p.E870*|IFT80_ENST00000496589.1_Nonsense_Mutation_p.E562*	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	699					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATTACCTTTCCCAGTTGTAG	0.343																																																	0													99.0	102.0	101.0					3																	159995098		2203	4300	6503	SO:0001587	stop_gained	0			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.2095G>T	3.37:g.159995098C>A	ENSP00000312778:p.Glu699*		B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E870*	ENST00000326448.7	37	c.2608	CCDS3188.1	3	.	.	.	.	.	.	.	.	.	.	C	46	12.188748	0.99644	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	.	.	.	5.47	5.47	0.80525	.	0.192375	0.32041	U	0.006676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-9.3895	19.3255	0.94260	0.0:1.0:0.0:0.0	.	.	.	.	X	699;562;562	.	ENSP00000312778:E699X	E	-	1	0	IFT80	161477792	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.481000	0.60250	2.544000	0.85801	0.655000	0.94253	GAA	TRIM59	-	NULL		0.343	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248710	Uniprot_genename	protein_coding	OTTHUMT00000352651.2	C	NM_020800		159995098	-1	no_errors	ENST00000483754	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KLC2	64837	genome.wustl.edu	37	11	66033101	66033101	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:66033101G>A	ENST00000417856.1	+	12	1577				KLC2_ENST00000394067.2_Intron|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394066.2_Intron|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Intron|KLC2_ENST00000316924.5_Intron|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000421552.1_Intron	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGGGAACATGGAGTTTGAGAC	0.642																																																	0													29.0	25.0	26.0					11																	66033101		2198	4294	6492	SO:0001627	intron_variant	0			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1335-25G>A	11.37:g.66033101G>A			A8MXL7|B2RDY4|Q9H9C8|Q9HA20	RNA	SNP	-	NULL	ENST00000417856.1	37	NULL	CCDS8130.1	11																																																																																			RP11-867G23.1	-	-		0.642	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254855	Clone_based_vega_gene	protein_coding	OTTHUMT00000258200.1	G	NM_022822		66033101	-1	no_errors	ENST00000530805	ensembl	human	known	70_37	rna	SNP	0.006	A
HCAR3	8843	genome.wustl.edu	37	12	123199991	123199991	+	3'UTR	SNP	A	A	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:123199991A>T	ENST00000528880.2	-	0	1448				RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	TAGAAGCTTTACTCTCTGTTC	0.498																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.*130T>A	12.37:g.123199991A>T			A8K4G5|B2R830|E9PI97|Q8NGE4	RNA	SNP	-	NULL	ENST00000528880.2	37	NULL	CCDS53842.1	12																																																																																			RP11-324E6.6	-	-		0.498	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256249	Clone_based_vega_gene	protein_coding	OTTHUMT00000387549.2	A	NM_006018		123199991	+1	no_errors	ENST00000543611	ensembl	human	known	70_37	rna	SNP	0.000	T
EMC9	51016	genome.wustl.edu	37	14	24609089	24609089	+	Intron	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:24609089G>C	ENST00000419198.2	-	3	556				RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_Intron|EMC9_ENST00000216799.4_Intron			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9							cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											catccaaattgaaactgtata	0.378																																																	0																																										SO:0001627	intron_variant	0			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.276-266C>G	14.37:g.24609089G>C			D3DS60|Q9BUM3	RNA	SNP	-	NULL	ENST00000419198.2	37	NULL	CCDS9613.1	14																																																																																			RP11-468E2.5	-	-		0.378	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000259321	Clone_based_vega_gene	protein_coding	OTTHUMT00000071917.4	G	NM_016049		24609089	+1	no_errors	ENST00000558478	ensembl	human	known	70_37	rna	SNP	0.000	C
AC019294.1	0	genome.wustl.edu	37	15	76030204	76030204	+	5'Flank	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:76030204C>T	ENST00000543887.1	+	0	0				DNM1P35_ENST00000501931.1_RNA																							AGCCTGGCCTCTGCTCCTGTG	0.577																																																	0																																										SO:0001631	upstream_gene_variant	0																															15.37:g.76030204C>T	Exception_encountered			RNA	SNP	-	NULL	ENST00000543887.1	37	NULL		15																																																																																			RP11-24M17.4	-	-		0.577	AC019294.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000260288	Clone_based_vega_gene	protein_coding		C			76030204	+1	no_errors	ENST00000565686	ensembl	human	known	70_37	rna	SNP	0.007	T
EPAS1	2034	genome.wustl.edu	37	2	46574022	46574022	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:46574022G>C	ENST00000263734.3	+	2	547	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	13					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)			GAGTAGCTCGGAGAGGAGGAA	0.612																																																	0													49.0	55.0	53.0					2																	46574022		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.37G>C	2.37:g.46574022G>C	ENSP00000263734:p.Glu13Gln		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.E13Q	ENST00000263734.3	37	c.37	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783642	0.90282	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.21543	2.0;2.0	4.86	4.86	0.63082	Helix-loop-helix DNA-binding (2);	0.158057	0.56097	D	0.000037	T	0.51839	0.1698	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59204	-0.7498	10	0.87932	D	0	.	18.1948	0.89818	0.0:0.0:1.0:0.0	.	13	Q99814	EPAS1_HUMAN	Q	13	ENSP00000406137:E13Q;ENSP00000263734:E13Q	ENSP00000263734:E13Q	E	+	1	0	EPAS1	46427526	1.000000	0.71417	0.956000	0.39512	0.692000	0.40212	9.519000	0.98025	2.521000	0.84997	0.561000	0.74099	GAG	EPAS1	-	superfamily_HLH_dom,pfscan_HLH_dom		0.612	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	G	NM_001430		46574022	+1	no_errors	ENST00000263734	ensembl	human	known	70_37	missense	SNP	1.000	C
ERCC6L2	375748	genome.wustl.edu	37	9	98685658	98685658	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:98685658G>A	ENST00000288985.7	+	9	1868	c.1563G>A	c.(1561-1563)atG>atA	p.M521I	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.M332I|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	521					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										GTGGAAAAATGAAGGTAAGTG	0.393																																																	0													105.0	102.0	103.0					9																	98685658		2203	4300	6503	SO:0001583	missense	375748			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1563G>A	9.37:g.98685658G>A	ENSP00000288985:p.Met521Ile		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M332I	ENST00000288985.7	37	c.996	CCDS35072.1	9	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752647	0.89753	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817;ENST00000426805	T;T;T	0.74421	-0.84;-0.84;-0.84	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000005	D	0.85155	0.5632	M	0.71206	2.165	0.80722	D	1	D;D;D	0.71674	0.986;0.998;0.991	P;D;P	0.75484	0.73;0.986;0.842	D	0.85120	0.0968	10	0.44086	T	0.13	-23.162	17.9731	0.89119	0.0:0.0:1.0:0.0	.	332;203;521	Q5T890-2;F2Z2R4;Q5T890	.;.;RAD26_HUMAN	I	203;521;332;8	ENSP00000288985:M521I;ENSP00000416286:M332I;ENSP00000395345:M8I	ENSP00000288985:M521I	M	+	3	0	C9orf102	97725479	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.859000	0.92264	2.543000	0.85770	0.655000	0.94253	ATG	ERCC6L2	-	pfam_HDA_complex_subunit-2/3		0.393	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ERCC6L2	HGNC	protein_coding	OTTHUMT00000053247.2	G	NM_001010895		98685658	+1	no_errors	ENST00000437817	ensembl	human	known	70_37	missense	SNP	1.000	A
EPB41L4B	54566	genome.wustl.edu	37	9	112003954	112003954	+	Intron	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:112003954C>T	ENST00000374566.3	-	15	1927				EPB41L4B_ENST00000374557.4_Missense_Mutation_p.M515I	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B						actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGTGCAGTCATGAGTTTAT	0.433																																																	0													266.0	254.0	258.0					9																	112003954		2000	4167	6167	SO:0001627	intron_variant	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1409+1943G>A	9.37:g.112003954C>T			Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.M515I	ENST00000374566.3	37	c.1545	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323985	0.81580	.	.	ENSG00000095203	ENST00000374557;ENST00000311609	D	0.83914	-1.78	5.23	5.23	0.72850	.	.	.	.	.	D	0.85539	0.5720	N	0.19112	0.55	0.33889	D	0.637046	D	0.53745	0.962	D	0.66716	0.946	D	0.89438	0.3721	9	0.87932	D	0	.	19.0108	0.92872	0.0:1.0:0.0:0.0	.	515	Q9H329-2	.	I	515;437	ENSP00000363685:M515I	ENSP00000311274:M437I	M	-	3	0	EPB41L4B	111043775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.164000	0.64954	2.713000	0.92767	0.655000	0.94253	ATG	EPB41L4B	-	NULL		0.433	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	C	NM_018424		112003954	-1	no_errors	ENST00000374557	ensembl	human	known	70_37	missense	SNP	1.000	T
ESRRG	2104	genome.wustl.edu	37	1	216850524	216850524	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:216850524C>T	ENST00000408911.3	-	2	519	c.366G>A	c.(364-366)tcG>tcA	p.S122S	ESRRG_ENST00000493603.1_Silent_p.S99S|ESRRG_ENST00000487276.1_Silent_p.S99S|ESRRG_ENST00000361525.3_Silent_p.S99S|ESRRG_ENST00000493748.1_Silent_p.S99S|ESRRG_ENST00000366938.2_Silent_p.S99S|ESRRG_ENST00000391890.3_Silent_p.S99S|ESRRG_ENST00000366937.1_Silent_p.S127S|ESRRG_ENST00000463665.1_Silent_p.S99S|ESRRG_ENST00000366940.2_Silent_p.S99S|ESRRG_ENST00000360012.3_Silent_p.S99S|ESRRG_ENST00000361395.2_Silent_p.S99S|ESRRG_ENST00000359162.2_Silent_p.S99S	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	122					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCTTGGGCATCGAGTTGAGCA	0.498																																																	0													223.0	197.0	206.0					1																	216850524		2203	4300	6503	SO:0001819	synonymous_variant	2104			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.366G>A	1.37:g.216850524C>T			A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.S122	ENST00000408911.3	37	c.366	CCDS41468.1	1																																																																																			ESRRG	-	prints_Retinoic_acid_rcpt		0.498	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	C	NM_206595		216850524	-1	no_errors	ENST00000408911	ensembl	human	known	70_37	silent	SNP	0.972	T
FAM131A	131408	genome.wustl.edu	37	3	184056262	184056262	+	5'Flank	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:184056262G>A	ENST00000310585.4	+	0	0				FAM131A_ENST00000497070.1_3'UTR|FAM131A_ENST00000418281.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Missense_Mutation_p.R59Q|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000450976.1_5'UTR|FAM131A_ENST00000453072.1_5'Flank			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A							extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGAACCCTCCGAGGCTGGAGC	0.627																																																	0													57.0	59.0	58.0					3																	184056262		692	1591	2283	SO:0001631	upstream_gene_variant	131408			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206		3.37:g.184056262G>A	Exception_encountered		D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	NULL	p.R59Q	ENST00000310585.4	37	c.176		3	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914326	0.52546	.	.	ENSG00000175182	ENST00000383847	T	0.22539	1.95	4.48	2.41	0.29592	.	.	.	.	.	T	0.16385	0.0394	N	0.22421	0.69	0.80722	D	1	.	.	.	.	.	.	T	0.06075	-1.0847	7	0.21014	T	0.42	.	9.3699	0.38248	0.0:0.0:0.6919:0.3081	.	.	.	.	Q	59	ENSP00000373360:R59Q	ENSP00000373360:R59Q	R	+	2	0	FAM131A	185538956	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.578000	0.36525	2.026000	0.59711	0.491000	0.48974	CGA	FAM131A	-	NULL		0.627	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	G	NM_144635		184056262	+1	no_errors	ENST00000383847	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM159B	100132916	genome.wustl.edu	37	5	63991426	63991426	+	Missense_Mutation	SNP	C	C	A	rs201615430		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:63991426C>A	ENST00000389074.5	+	2	600	c.284C>A	c.(283-285)aCg>aAg	p.T95K	FAM159B_ENST00000512767.1_3'UTR	NM_001164442.1	NP_001157914.1	A6NKW6	F159B_HUMAN	family with sequence similarity 159, member B	95						integral component of membrane (GO:0016021)											TTTCTGTATACGAAACCTCAA	0.403																																																	0													223.0	167.0	184.0					5																	63991426		692	1591	2283	SO:0001583	missense	100132916				CCDS47220.1	5q12.3	2010-02-17			ENSG00000145642	ENSG00000145642			34236	protein-coding gene	gene with protein product							Standard	NM_001164442		Approved		uc021xzg.1	A6NKW6	OTTHUMG00000162292	ENST00000389074.5:c.284C>A	5.37:g.63991426C>A	ENSP00000373726:p.Thr95Lys			Missense_Mutation	SNP	NULL	p.T95K	ENST00000389074.5	37	c.284	CCDS47220.1	5	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403166	0.62288	.	.	ENSG00000145642	ENST00000389074	T	0.31769	1.48	5.73	5.73	0.89815	.	0.222321	0.42682	D	0.000676	T	0.48537	0.1505	L	0.56769	1.78	0.39817	D	0.972784	.	.	.	.	.	.	T	0.44937	-0.9295	8	0.62326	D	0.03	-18.2133	17.4705	0.87645	0.0:1.0:0.0:0.0	.	.	.	.	K	95	ENSP00000373726:T95K	ENSP00000373726:T95K	T	+	2	0	FAM159B	64027182	1.000000	0.71417	0.984000	0.44739	0.953000	0.61014	4.543000	0.60684	2.740000	0.93945	0.556000	0.70494	ACG	FAM159B	-	NULL		0.403	FAM159B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM159B	HGNC	protein_coding	OTTHUMT00000368460.2	C	XM_001720158		63991426	+1	no_errors	ENST00000389074	ensembl	human	known	70_37	missense	SNP	0.989	A
FAM227A	646851	genome.wustl.edu	37	22	39041581	39041581	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:39041581G>A	ENST00000535113.1	-	3	815	c.212C>T	c.(211-213)tCg>tTg	p.S71L	FAM227A_ENST00000406767.2_Missense_Mutation_p.S65L|FAM227A_ENST00000355830.6_Missense_Mutation_p.S65L|FAM227A_ENST00000540952.1_5'UTR	NM_001013647.1	NP_001013669.1	F5H4B4	F227A_HUMAN	family with sequence similarity 227, member A	71																	GCTGTTGGCCGACGGCTCGGT	0.552																																																	0													53.0	50.0	51.0					22																	39041581		692	1591	2283	SO:0001583	missense	646851					22q13.1	2012-07-04			ENSG00000184949	ENSG00000184949			44197	protein-coding gene	gene with protein product							Standard	NM_001013647		Approved		uc011anw.1	F5H4B4	OTTHUMG00000151133	ENST00000535113.1:c.212C>T	22.37:g.39041581G>A	ENSP00000445093:p.Ser71Leu		B0QY52|B7Z7C6|Q5TG08	Missense_Mutation	SNP	superfamily_Staphylocoagulase_N	p.S65L	ENST00000535113.1	37	c.194		22	.	.	.	.	.	.	.	.	.	.	G	4.399	0.073664	0.08485	.	.	ENSG00000184949	ENST00000535113;ENST00000355830;ENST00000406767	.	.	.	5.1	-0.939	0.10408	.	3.024970	0.01398	N	0.013498	T	0.08223	0.0205	N	0.00583	-1.355	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.27839	-1.0062	9	0.10902	T	0.67	-18.8499	3.5301	0.07773	0.5695:0.0:0.2106:0.22	.	71	F5H4B4	.	L	71;65;65	.	ENSP00000348086:S65L	S	-	2	0	RP1-199H16.5	37371527	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.321000	0.19558	0.277000	0.22141	-1.106000	0.02097	TCG	FAM227A	-	NULL		0.552	FAM227A-202	KNOWN	basic|appris_principal	protein_coding	FAM227A	HGNC	protein_coding		G	NM_001013647		39041581	-1	no_errors	ENST00000406767	ensembl	human	known	70_37	missense	SNP	0.000	A
FAM19A5	25817	genome.wustl.edu	37	22	49145893	49145893	+	3'UTR	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:49145893C>T	ENST00000402357.1	+	0	766				FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000406880.1_3'UTR|FAM19A5_ENST00000358295.5_3'UTR	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CACCTGGCATCAGCAATACGC	0.697																																																	0																																										SO:0001624	3_prime_UTR_variant	25817			AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.*234C>T	22.37:g.49145893C>T			A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	RNA	SNP	-	NULL	ENST00000402357.1	37	NULL	CCDS46728.1	22																																																																																			FAM19A5	-	-		0.697	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	FAM19A5	HGNC	protein_coding	OTTHUMT00000317504.1	C	NM_015381		49145893	+1	no_errors	ENST00000473898	ensembl	human	known	70_37	rna	SNP	0.833	T
NUTM2B	729262	genome.wustl.edu	37	10	81466126	81466126	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:81466126C>T	ENST00000429828.1	+	2	1094	c.711C>T	c.(709-711)ctC>ctT	p.L237L	RP11-119F19.2_ENST00000596088.1_RNA|RP11-119F19.2_ENST00000601369.1_RNA|NUTM2B_ENST00000448135.1_Silent_p.L237L|NUTM2B_ENST00000372321.1_Silent_p.L170L|RP11-119F19.2_ENST00000600376.1_RNA	NM_001278495.1	NP_001265424.1	A6NNL0	NTM2B_HUMAN	NUT family member 2B	237																	CAGGCGCCCTCTGCGGAGGTG	0.657																																																	0																																										SO:0001819	synonymous_variant	729262				CCDS60574.1	10q22.3	2014-08-13	2013-03-14	2013-03-14	ENSG00000188199	ENSG00000188199			23445	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member B"""	FAM22B			Standard	NM_001278495		Approved	bA119F19.1		A6NNL0	OTTHUMG00000018572	ENST00000429828.1:c.711C>T	10.37:g.81466126C>T			A6NM73	Silent	SNP	NULL	p.L237	ENST00000429828.1	37	c.711		10																																																																																			FAM22B	-	NULL		0.657	NUTM2B-201	KNOWN	basic|appris_principal	protein_coding	FAM22B	HGNC	protein_coding		C	NG_012780		81466126	+1	no_errors	ENST00000429828	ensembl	human	known	70_37	silent	SNP	0.003	T
FAM71D	161142	genome.wustl.edu	37	14	67671768	67671768	+	3'UTR	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:67671768G>C	ENST00000556046.1	+	0	1415							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		AGTGGTGTTTGAAAACAATGA	0.433																																																	0													11.0	12.0	12.0					14																	67671768		1996	3963	5959	SO:0001624	3_prime_UTR_variant	161142				CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 54"""	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.*930G>C	14.37:g.67671768G>C			Q86VN4	Missense_Mutation	SNP	pfam_DUF3699	p.E292Q	ENST00000556046.1	37	c.874		14	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831066	0.71258	.	.	ENSG00000172717	ENST00000556117	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	L	0.36672	1.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.6393	12.4219	0.55524	0.0:0.0:1.0:0.0	.	.	.	.	S	35	.	.	X	+	2	2	FAM71D	66741521	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.703000	0.54808	2.634000	0.89283	0.591000	0.81541	TGA	FAM71D	-	NULL		0.433	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	FAM71D	HGNC	protein_coding	OTTHUMT00000412390.1	G	NM_173526		67671768	+1	no_errors	ENST00000311864	ensembl	human	known	70_37	missense	SNP	1.000	C
ALG1L	200810	genome.wustl.edu	37	3	125648495	125648495	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:125648495G>A	ENST00000340333.3	-	6	512				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CCAGGTCCCCGACCCAACAAC	0.542																																																	0																																										SO:0001627	intron_variant	100125556			BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.349-85C>T	3.37:g.125648495G>A			D3DNA5	RNA	SNP	-	NULL	ENST00000340333.3	37	NULL	CCDS33840.1	3																																																																																			FAM86JP	-	-		0.542	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86JP	HGNC	protein_coding	OTTHUMT00000356347.1	G	NM_001015050		125648495	+1	no_errors	ENST00000467239	ensembl	human	known	70_37	rna	SNP	0.000	A
FARP1	10160	genome.wustl.edu	37	13	99047520	99047520	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:99047520G>A	ENST00000319562.6	+	13	1469	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	FARP1_ENST00000595437.1_Missense_Mutation_p.E402K|FARP1_ENST00000376586.2_Missense_Mutation_p.E402K	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	402					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGAAGGTGCCGAATCTCCAGG	0.632																																																	0													33.0	40.0	38.0					13																	99047520		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1204G>A	13.37:g.99047520G>A	ENSP00000322926:p.Glu402Lys		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E402K	ENST00000319562.6	37	c.1204	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183092	0.21870	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.78126	-1.15;-0.98	4.8	3.93	0.45458	.	1.063860	0.07259	N	0.867162	T	0.69124	0.3076	L	0.36672	1.1	0.09310	N	1	B;B	0.22003	0.018;0.063	B;B	0.14578	0.004;0.011	T	0.48055	-0.9068	10	0.10111	T	0.7	.	13.4121	0.60948	0.0:0.3014:0.6986:0.0	.	402;402	Q9Y4F1;C9JME2	FARP1_HUMAN;.	K	402;107;402	ENSP00000365771:E402K;ENSP00000322926:E402K	ENSP00000322926:E402K	E	+	1	0	FARP1	97845521	0.898000	0.30612	0.001000	0.08648	0.038000	0.13279	2.339000	0.43965	0.970000	0.38263	0.462000	0.41574	GAA	FARP1	-	NULL		0.632	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	G	NM_005766		99047520	+1	no_errors	ENST00000376586	ensembl	human	known	70_37	missense	SNP	0.002	A
FGR	2268	genome.wustl.edu	37	1	27949617	27949617	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:27949617C>T	ENST00000374005.3	-	4	553	c.265G>A	c.(265-267)Gag>Aag	p.E89K	FGR_ENST00000468038.1_5'Flank|FGR_ENST00000374004.1_Missense_Mutation_p.E89K|FGR_ENST00000399173.1_Missense_Mutation_p.E89K|FGR_ENST00000545953.1_Missense_Mutation_p.E89K	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	89	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCGAGCCTCATAGTCATAC	0.557																																																	0													194.0	139.0	158.0					1																	27949617		2203	4300	6503	SO:0001583	missense	2268			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.265G>A	1.37:g.27949617C>T	ENSP00000363117:p.Glu89Lys		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E89K	ENST00000374005.3	37	c.265	CCDS305.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110964	0.77210	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.41	4.5	0.54988	Src homology-3 domain (5);	0.102549	0.40469	N	0.001089	T	0.37348	0.1000	L	0.31120	0.905	0.36784	D	0.884496	B	0.14012	0.009	B	0.17979	0.02	T	0.41520	-0.9504	10	0.66056	D	0.02	.	12.5503	0.56223	0.0:0.9182:0.0:0.0818	.	89	P09769	FGR_HUMAN	K	89	ENSP00000363117:E89K;ENSP00000445302:E89K;ENSP00000382126:E89K;ENSP00000363116:E89K;ENSP00000363115:E89K;ENSP00000407670:E89K	ENSP00000363115:E89K	E	-	1	0	FGR	27822204	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.087000	0.71362	1.412000	0.46977	0.650000	0.86243	GAG	FGR	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.557	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGR	HGNC	protein_coding	OTTHUMT00000009772.1	C	NM_005248		27949617	-1	no_errors	ENST00000374003	ensembl	human	known	70_37	missense	SNP	1.000	T
FHL1	2273	genome.wustl.edu	37	X	135289174	135289174	+	Splice_Site	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:135289174G>A	ENST00000345434.3	+	3	237		c.e3-1		FHL1_ENST00000543669.1_Splice_Site|FHL1_ENST00000539015.1_Splice_Site|FHL1_ENST00000370690.3_Splice_Site|FHL1_ENST00000535737.1_Splice_Site|FHL1_ENST00000370676.3_Splice_Site|FHL1_ENST00000394153.2_Splice_Site|FHL1_ENST00000477080.1_Splice_Site|FHL1_ENST00000394155.2_Splice_Site|FHL1_ENST00000370683.1_Splice_Site			Q13642	FHL1_HUMAN	four and a half LIM domains 1						cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					TTGGTTTCCAGGAGGTGCACT	0.582																																																	0													116.0	109.0	111.0					X																	135289174		2203	4300	6503	SO:0001630	splice_region_variant	2273			U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.157-1G>A	X.37:g.135289174G>A			B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Splice_Site	SNP	-	e2-1	ENST00000345434.3	37	c.157-1	CCDS55507.1	X	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942919	0.73672	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000536581;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000449474;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9118	0.92489	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FHL1	135116840	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	9.869000	0.99810	2.520000	0.84964	0.600000	0.82982	.	FHL1	-	-		0.582	FHL1-002	KNOWN	basic|CCDS	protein_coding	FHL1	HGNC	protein_coding	OTTHUMT00000058461.1	G	NM_001449	Intron	135289174	+1	no_errors	ENST00000345434	ensembl	human	known	70_37	splice_site	SNP	1.000	A
FKBPL	63943	genome.wustl.edu	37	6	32096939	32096940	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:32096939_32096940CC>AT	ENST00000375156.3	-	2	888_889	c.618_619GG>AT	c.(616-621)aaGGaa>aaATaa	p.E207*	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	207					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										GCCAGGGCTTCCTTCTCGCTAG	0.604																																																	0																																										SO:0001587	stop_gained	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.618_619delinsAT	6.37:g.32096939_32096940delinsAT	ENSP00000364298:p.Glu207*		A8K5V3|B0UYX8|Q9H5G3	Nonsense_Mutation|Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E207*|p.K206	ENST00000375156.3	37	c.619|c.618	CCDS4738.1	6																																																																																			FKBPL	-	NULL		0.604	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBPL	HGNC	protein_coding	OTTHUMT00000076221.2	C			32096939|32096940	-1	no_errors	ENST00000375156	ensembl	human	known	70_37	nonsense|silent	SNP	1.000	A|T
FKBPL	63943	genome.wustl.edu	37	6	32097143	32097143	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:32097143C>T	ENST00000375156.3	-	2	685	c.415G>A	c.(415-417)Gag>Aag	p.E139K	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	139					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										GTCCAGCCCTCTGGCGGCCCT	0.562																																																	0													172.0	192.0	185.0					6																	32097143		2203	4300	6503	SO:0001583	missense	63943			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.415G>A	6.37:g.32097143C>T	ENSP00000364298:p.Glu139Lys		A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E139K	ENST00000375156.3	37	c.415	CCDS4738.1	6	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751534	0.49257	.	.	ENSG00000204315	ENST00000375156	T	0.81247	-1.47	5.23	4.35	0.52113	.	0.407546	0.22055	N	0.065257	T	0.49321	0.1550	N	0.24115	0.695	0.32590	N	0.527294	B	0.25312	0.123	B	0.22880	0.042	T	0.43130	-0.9410	10	0.40728	T	0.16	-15.0424	7.0876	0.25266	0.0:0.735:0.1755:0.0895	.	139	Q9UIM3	FKBPL_HUMAN	K	139	ENSP00000364298:E139K	ENSP00000364298:E139K	E	-	1	0	FKBPL	32205121	0.446000	0.25665	0.999000	0.59377	0.985000	0.73830	1.152000	0.31663	1.410000	0.46936	0.462000	0.41574	GAG	FKBPL	-	NULL		0.562	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBPL	HGNC	protein_coding	OTTHUMT00000076221.2	C			32097143	-1	no_errors	ENST00000375156	ensembl	human	known	70_37	missense	SNP	0.999	T
FLG	2312	genome.wustl.edu	37	1	152281552	152281552	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:152281552G>C	ENST00000368799.1	-	3	5845	c.5810C>G	c.(5809-5811)tCt>tGt	p.S1937C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1937	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1937Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGAAGCAGACCCAGACCA	0.567									Ichthyosis																																								1	Substitution - Missense(1)	lung(1)											221.0	215.0	217.0					1																	152281552		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5810C>G	1.37:g.152281552G>C	ENSP00000357789:p.Ser1937Cys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S1937C	ENST00000368799.1	37	c.5810	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	7.123	0.578294	0.13686	.	.	ENSG00000143631	ENST00000368799	T	0.02236	4.38	2.42	1.45	0.22620	.	.	.	.	.	T	0.03095	0.0091	M	0.76002	2.32	0.09310	N	1	D	0.67145	0.996	P	0.60012	0.867	T	0.38993	-0.9635	9	0.49607	T	0.09	.	6.3234	0.21231	0.0:0.0:0.7055:0.2945	.	1937	P20930	FILA_HUMAN	C	1937	ENSP00000357789:S1937C	ENSP00000357789:S1937C	S	-	2	0	FLG	150548176	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.080000	0.14802	0.551000	0.29008	0.586000	0.80456	TCT	FLG	-	NULL		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152281552	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	C
FOXE1	2304	genome.wustl.edu	37	9	100616545	100616545	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:100616545G>C	ENST00000375123.3	+	1	1010	c.349G>C	c.(349-351)Gag>Cag	p.E117Q		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	117					anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E117K(1)		central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				GATCCCGCGCGAGGCCGGCCG	0.637																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											39.0	41.0	40.0					9																	100616545		2201	4300	6501	SO:0001583	missense	2304			U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.349G>C	9.37:g.100616545G>C	ENSP00000364265:p.Glu117Gln		O75765|Q5T109|Q99526	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E117Q	ENST00000375123.3	37	c.349	CCDS35078.1	9	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330092	0.81690	.	.	ENSG00000178919	ENST00000375123	D	0.95554	-3.74	4.05	4.05	0.47172	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	D	0.000001	D	0.96052	0.8714	L	0.45352	1.415	0.58432	D	0.99999	D	0.76494	0.999	D	0.74348	0.983	D	0.95793	0.8826	10	0.48119	T	0.1	.	14.094	0.65008	0.0:0.0:1.0:0.0	.	117	O00358	FOXE1_HUMAN	Q	117	ENSP00000364265:E117Q	ENSP00000364265:E117Q	E	+	1	0	FOXE1	99656366	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.478000	0.60230	1.993000	0.58246	0.557000	0.71058	GAG	FOXE1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.637	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXE1	HGNC	protein_coding	OTTHUMT00000053341.1	G			100616545	+1	no_errors	ENST00000375123	ensembl	human	known	70_37	missense	SNP	1.000	C
FREM2	341640	genome.wustl.edu	37	13	39265951	39265951	+	Missense_Mutation	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:39265951C>A	ENST00000280481.7	+	1	4686	c.4470C>A	c.(4468-4470)aaC>aaA	p.N1490K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1490					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCTGGAAACAAAATCTACT	0.483																																																	0													89.0	80.0	83.0					13																	39265951		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4470C>A	13.37:g.39265951C>A	ENSP00000280481:p.Asn1490Lys		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.N1490K	ENST00000280481.7	37	c.4470	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361576	0.41801	.	.	ENSG00000150893	ENST00000280481	T	0.26223	1.75	6.08	5.24	0.73138	.	0.041856	0.85682	D	0.000000	T	0.44705	0.1306	M	0.83312	2.635	0.58432	D	0.999997	D	0.56287	0.975	P	0.55161	0.77	T	0.48103	-0.9064	10	0.54805	T	0.06	.	9.4437	0.38684	0.0:0.7784:0.0:0.2216	.	1490	Q5SZK8	FREM2_HUMAN	K	1490	ENSP00000280481:N1490K	ENSP00000280481:N1490K	N	+	3	2	FREM2	38163951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.796000	0.26986	1.594000	0.50039	0.655000	0.94253	AAC	FREM2	-	NULL		0.483	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	C	NM_207361		39265951	+1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	1.000	A
CMTR2	55783	genome.wustl.edu	37	16	71319737	71319737	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:71319737G>A	ENST00000338099.5	-	3	423	c.87C>T	c.(85-87)ctC>ctT	p.L29L	CMTR2_ENST00000434935.2_Silent_p.L29L			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	29					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TCTTGGCAAAGAGTTCAAAAA	0.413																																																	0													53.0	52.0	53.0					16																	71319737		2198	4300	6498	SO:0001819	synonymous_variant	55783			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.87C>T	16.37:g.71319737G>A			B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Silent	SNP	pfam_rRNA_MeTrfase_FtsJ_dom	p.L29	ENST00000338099.5	37	c.87	CCDS10898.1	16																																																																																			FTSJD1	-	NULL		0.413	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD1	HGNC	protein_coding	OTTHUMT00000268984.2	G	NM_018348		71319737	-1	no_errors	ENST00000338099	ensembl	human	known	70_37	silent	SNP	1.000	A
FXR1	8087	genome.wustl.edu	37	3	180688094	180688094	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:180688094G>A	ENST00000357559.4	+	15	1935	c.1551G>A	c.(1549-1551)ctG>ctA	p.L517L	FXR1_ENST00000491062.1_Silent_p.L468L|FXR1_ENST00000445140.2_Silent_p.L517L|FXR1_ENST00000468861.1_Silent_p.L432L|FXR1_ENST00000305586.7_Silent_p.L432L|FXR1_ENST00000480918.1_Silent_p.L504L	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	517					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ATGCTGTTCTGATGGATGGAA	0.398																																																	0													126.0	109.0	115.0					3																	180688094		2203	4300	6503	SO:0001819	synonymous_variant	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1551G>A	3.37:g.180688094G>A			A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1	p.L517	ENST00000357559.4	37	c.1551	CCDS3238.1	3																																																																																			FXR1	-	NULL		0.398	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	G			180688094	+1	no_errors	ENST00000357559	ensembl	human	known	70_37	silent	SNP	0.998	A
FYN	2534	genome.wustl.edu	37	6	112029209	112029209	+	Missense_Mutation	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:112029209C>A	ENST00000354650.3	-	6	965	c.359G>T	c.(358-360)tGg>tTg	p.W120L	FYN_ENST00000538466.1_Missense_Mutation_p.W120L|FYN_ENST00000356013.2_Missense_Mutation_p.W120L|FYN_ENST00000368678.4_Missense_Mutation_p.W120L|FYN_ENST00000229471.4_Missense_Mutation_p.W120L|FYN_ENST00000229470.5_Intron|FYN_ENST00000368682.3_Missense_Mutation_p.W120L|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368667.2_Missense_Mutation_p.W120L	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	120	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|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)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GCGGGCTTCCCACCAATCTCC	0.418																																																	0													92.0	88.0	90.0					6																	112029209		2203	4300	6503	SO:0001583	missense	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.359G>T	6.37:g.112029209C>A	ENSP00000346671:p.Trp120Leu		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.W120L	ENST00000354650.3	37	c.359	CCDS5094.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.523980	0.96431	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000356013;ENST00000538466;ENST00000462856;ENST00000520518;ENST00000517419;ENST00000518295;ENST00000523238;ENST00000524310;ENST00000523574;ENST00000462598	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	6.08	6.08	0.98989	Src homology-3 domain (5);	0.063060	0.64402	D	0.000002	T	0.77778	0.4181	M	0.87097	2.86	0.80722	D	1	D;P;D	0.67145	0.978;0.716;0.996	P;P;D	0.69307	0.782;0.525;0.963	T	0.79522	-0.1769	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	120;120;120	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	L	120	ENSP00000357671:W120L;ENSP00000346671:W120L;ENSP00000229471:W120L;ENSP00000357656:W120L;ENSP00000357667:W120L;ENSP00000348295:W120L;ENSP00000440646:W120L;ENSP00000427993:W120L;ENSP00000429294:W120L;ENSP00000429866:W120L;ENSP00000428695:W120L;ENSP00000430364:W120L;ENSP00000428493:W120L;ENSP00000429992:W120L;ENSP00000429590:W120L	ENSP00000229471:W120L	W	-	2	0	FYN	112135902	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	TGG	FYN	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.418	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FYN	HGNC	protein_coding	OTTHUMT00000043655.1	C			112029209	-1	no_errors	ENST00000354650	ensembl	human	known	70_37	missense	SNP	1.000	A
GABRA1	2554	genome.wustl.edu	37	5	161277835	161277835	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:161277835C>T	ENST00000428797.2	+	3	374	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	GABRA1_ENST00000444819.1_Silent_p.L7L|GABRA1_ENST00000437025.2_Silent_p.L7L|GABRA1_ENST00000023897.6_Silent_p.L7L|GABRA1_ENST00000420560.1_Silent_p.L7L|GABRA1_ENST00000393943.4_Silent_p.L7L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	7					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAGTCCAGGTCTGTCTGACTG	0.448																																																	0													111.0	107.0	108.0					5																	161277835		2203	4300	6503	SO:0001819	synonymous_variant	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.19C>T	5.37:g.161277835C>T			D3DQK6|Q8N629	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L7	ENST00000428797.2	37	c.19	CCDS4357.1	5																																																																																			GABRA1	-	prints_GABBAa1_rcpt		0.448	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	C	NM_000806.5		161277835	+1	no_errors	ENST00000023897	ensembl	human	known	70_37	silent	SNP	0.600	T
GABRB1	2560	genome.wustl.edu	37	4	47427865	47427865	+	Missense_Mutation	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:47427865G>T	ENST00000295454.3	+	9	1547	c.1255G>T	c.(1255-1257)Gac>Tac	p.D419Y	GABRB1_ENST00000538619.1_Missense_Mutation_p.D349Y	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	419					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCGCGCCCTGGACCGGCACGG	0.637																																																	0													44.0	49.0	47.0					4																	47427865		2203	4300	6503	SO:0001583	missense	2560				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1255G>T	4.37:g.47427865G>T	ENSP00000295454:p.Asp419Tyr		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.D419Y	ENST00000295454.3	37	c.1255	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643509	0.47258	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.83755	-1.76;-1.76	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.286719	0.32473	N	0.006047	D	0.88500	0.6453	M	0.78049	2.395	0.43342	D	0.995399	B;D	0.53885	0.024;0.963	B;P	0.51487	0.06;0.671	D	0.89514	0.3773	10	0.66056	D	0.02	-14.3991	19.3205	0.94236	0.0:0.0:1.0:0.0	.	349;419	F5GXV5;P18505	.;GBRB1_HUMAN	Y	419;349	ENSP00000295454:D419Y;ENSP00000440330:D349Y	ENSP00000295454:D419Y	D	+	1	0	GABRB1	47122622	1.000000	0.71417	0.997000	0.53966	0.132000	0.20833	9.519000	0.98025	2.803000	0.96430	0.650000	0.86243	GAC	GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.637	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	G			47427865	+1	no_errors	ENST00000295454	ensembl	human	known	70_37	missense	SNP	1.000	T
GJB3	2707	genome.wustl.edu	37	1	35250933	35250933	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:35250933C>T	ENST00000373366.2	+	2	1185	c.570C>T	c.(568-570)ttC>ttT	p.F190F	GJB3_ENST00000373362.3_Silent_p.F190F|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	190					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCACCTACTTCATGGTGGGCG	0.597																																																	0													96.0	92.0	93.0					1																	35250933		2203	4300	6503	SO:0001819	synonymous_variant	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.570C>T	1.37:g.35250933C>T			B2R790|Q2TAZ8	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31	p.F190	ENST00000373366.2	37	c.570	CCDS384.1	1																																																																																			GJB3	-	pfam_Connexin_CCC,prints_Connexin		0.597	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB3	HGNC	protein_coding	OTTHUMT00000011559.1	C	NM_024009		35250933	+1	no_errors	ENST00000373362	ensembl	human	known	70_37	silent	SNP	1.000	T
GKAP1	80318	genome.wustl.edu	37	9	86363353	86363353	+	Intron	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:86363353C>G	ENST00000376371.2	-	10	1241				GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Intron	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1						signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						GATTTACTGTCAACTTACAGA	0.294																																																	0													36.0	28.0	31.0					9																	86363353		692	1567	2259	SO:0001627	intron_variant	80318			BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.841-66G>C	9.37:g.86363353C>G			Q96LI0|Q9BYI1|Q9BYI2|Q9H225	RNA	SNP	-	NULL	ENST00000376371.2	37	NULL	CCDS35049.1	9																																																																																			GKAP1	-	-		0.294	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GKAP1	HGNC	protein_coding	OTTHUMT00000052839.2	C	NM_025211		86363353	-1	no_errors	ENST00000376362	ensembl	human	known	70_37	rna	SNP	0.000	G
COLGALT1	79709	genome.wustl.edu	37	19	17690345	17690345	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:17690345G>A	ENST00000252599.4	+	10	1441	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	441					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CCTGCGTTTTGAGATCTTCTT	0.602																																																	0													160.0	141.0	148.0					19																	17690345		2203	4300	6503	SO:0001583	missense	79709			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1321G>A	19.37:g.17690345G>A	ENSP00000252599:p.Glu441Lys		Q8NC64	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.E441K	ENST00000252599.4	37	c.1321	CCDS12363.1	19	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148996	0.78001	.	.	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.78246	-1.16	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.86851	0.6032	M	0.70595	2.14	0.80722	D	1	D;P	0.76494	0.999;0.871	D;P	0.75484	0.986;0.664	D	0.87035	0.2137	10	0.48119	T	0.1	-17.399	16.0272	0.80551	0.0:0.0:1.0:0.0	.	169;441	E9PC06;Q8NBJ5	.;GT251_HUMAN	K	169;441	ENSP00000252599:E441K	ENSP00000252599:E441K	E	+	1	0	GLT25D1	17551345	1.000000	0.71417	0.988000	0.46212	0.270000	0.26580	9.588000	0.98232	2.393000	0.81446	0.313000	0.20887	GAG	GLT25D1	-	pfam_Glyco_trans_25		0.602	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D1	HGNC	protein_coding	OTTHUMT00000464216.1	G	NM_024656		17690345	+1	no_errors	ENST00000252599	ensembl	human	known	70_37	missense	SNP	1.000	A
GNAS	2778	genome.wustl.edu	37	20	57415168	57415168	+	Missense_Mutation	SNP	C	C	T	rs202131370		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:57415168C>T	ENST00000313949.7	+	1	396	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R3W|GNAS_ENST00000371098.2_Missense_Mutation_p.R3W			P63092	GNAS2_HUMAN	GNAS complex locus	0				C -> Y (in Ref. 8; AAH66923). {ECO:0000305}.	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)			GAGGATGGATCGGAGGTCCCG	0.657			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													30.0	38.0	35.0					20																	57415168		2191	4266	6457	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.7C>T	20.37:g.57415168C>T	ENSP00000323571:p.Arg3Trp		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_NESP55	p.R3W	ENST00000313949.7	37	c.7	CCDS13471.1	20	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113027	0.56398	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075	.	.	.	3.75	3.75	0.43078	.	.	.	.	.	T	0.61324	0.2338	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64609	-0.6367	8	0.87932	D	0	.	11.3582	0.49627	0.0:1.0:0.0:0.0	.	3	O95467	GNAS3_HUMAN	W	3	.	ENSP00000323571:R3W	R	+	1	2	GNAS	56848563	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	2.952000	0.49097	2.406000	0.81754	0.484000	0.47621	CGG	GNAS	-	pfam_NESP55		0.657	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080418.7	C	NM_000516		57415168	+1	no_errors	ENST00000313949	ensembl	human	known	70_37	missense	SNP	0.996	T
GNAT2	2780	genome.wustl.edu	37	1	110148667	110148667	+	Silent	SNP	G	G	A	rs534677249	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:110148667G>A	ENST00000351050.3	-	6	831	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	215					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.F215F(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGACTCCCTCGAAGCAGTGGA	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		21206	0.0		0.0	False		,,,				2504	0.002																1	Substitution - coding silent(1)	breast(1)											127.0	115.0	119.0					1																	110148667		2203	4300	6503	SO:0001819	synonymous_variant	2780			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.645C>T	1.37:g.110148667G>A				Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.F215	ENST00000351050.3	37	c.645	CCDS803.1	1																																																																																			GNAT2	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su		0.507	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT2	HGNC	protein_coding	OTTHUMT00000032181.1	G	NM_005272		110148667	-1	no_errors	ENST00000351050	ensembl	human	known	70_37	silent	SNP	1.000	A
GOLGA8B	440270	genome.wustl.edu	37	15	34844555	34844555	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:34844555G>A	ENST00000267731.7	-	4	553				GOLGA8A_ENST00000543376.1_Intron			A8MQT2	GOG8B_HUMAN	golgin A8 family, member B							Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCAGCTTGCCGTAAGGTATCC	0.522																																																	0																																										SO:0001627	intron_variant	440270			AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"""golgi autoantigen, golgin subfamily a, 8B"""				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549	ENST00000267731.7:c.712+540C>T	15.37:g.34844555G>A			A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	RNA	SNP	-	NULL	ENST00000267731.7	37	NULL	CCDS45211.1	15																																																																																			GOLGA8B	-	-		0.522	GOLGA8B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA8B	HGNC	protein_coding		G	NM_001023567		34844555	-1	no_errors	ENST00000562282	ensembl	human	putative	70_37	rna	SNP	0.075	A
GON4L	54856	genome.wustl.edu	37	1	155785975	155785975	+	Intron	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:155785975G>C	ENST00000368331.1	-	7	1114				GON4L_ENST00000271883.5_Intron|GON4L_ENST00000361040.5_Intron|GON4L_ENST00000437809.1_Intron|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCTGGAAAAGAATAACAATT	0.289																																																	0													31.0	30.0	30.0					1																	155785975		2191	4272	6463	SO:0001627	intron_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1065+27C>G	1.37:g.155785975G>C			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	RNA	SNP	-	NULL	ENST00000368331.1	37	NULL		1																																																																																			GON4L	-	-		0.289	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		G	NM_032292		155785975	-1	no_errors	ENST00000471341	ensembl	human	known	70_37	rna	SNP	0.414	C
GPR101	83550	genome.wustl.edu	37	X	136112351	136112351	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:136112351C>T	ENST00000298110.1	-	1	1482	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	495						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ATCTTGCCTTCAGTCCCACCC	0.468																																																	0													95.0	89.0	91.0					X																	136112351		2203	4300	6503	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1483G>A	X.37:g.136112351C>T	ENSP00000298110:p.Glu495Lys		Q5JSM8|Q8NG93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E495K	ENST00000298110.1	37	c.1483	CCDS14662.1	X	.	.	.	.	.	.	.	.	.	.	C	6.108	0.388126	0.11581	.	.	ENSG00000165370	ENST00000298110	T	0.63913	-0.07	4.19	3.32	0.38043	.	.	.	.	.	T	0.45196	0.1330	L	0.27053	0.805	0.27464	N	0.953077	P	0.34522	0.455	B	0.29440	0.102	T	0.30297	-0.9983	9	0.41790	T	0.15	-1.0375	9.3964	0.38406	0.0:0.8862:0.0:0.1138	.	495	Q96P66	GP101_HUMAN	K	495	ENSP00000298110:E495K	ENSP00000298110:E495K	E	-	1	0	GPR101	135940017	.	.	0.422000	0.26621	0.031000	0.12232	.	.	0.864000	0.35578	0.429000	0.28392	GAA	GPR101	-	NULL		0.468	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	HGNC	protein_coding	OTTHUMT00000058519.1	C			136112351	-1	no_errors	ENST00000298110	ensembl	human	known	70_37	missense	SNP	0.825	T
GPR126	57211	genome.wustl.edu	37	6	142691547	142691547	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:142691547C>G	ENST00000230173.6	+	4	1162	c.686C>G	c.(685-687)tCa>tGa	p.S229*	GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Nonsense_Mutation_p.S229*|GPR126_ENST00000367608.2_Nonsense_Mutation_p.S229*|GPR126_ENST00000296932.8_Nonsense_Mutation_p.S229*	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	229	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ATTTCTGATTCAAAATGTTTG	0.383																																																	0													57.0	55.0	55.0					6																	142691547		1831	4092	5923	SO:0001587	stop_gained	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.686C>G	6.37:g.142691547C>G	ENSP00000230173:p.Ser229*		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S229*	ENST00000230173.6	37	c.686	CCDS47490.1	6	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092009	0.76756	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199	.	.	.	5.4	2.62	0.31277	.	0.717849	0.12590	N	0.455654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.6904	0.40125	0.0:0.7482:0.0:0.2518	.	.	.	.	X	229;229;229;229;228	.	ENSP00000230173:S229X	S	+	2	0	GPR126	142733240	0.001000	0.12720	0.058000	0.19502	0.242000	0.25591	0.973000	0.29422	0.667000	0.31107	0.650000	0.86243	TCA	GPR126	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.383	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	C			142691547	+1	no_errors	ENST00000367609	ensembl	human	known	70_37	nonsense	SNP	0.002	G
GPR137	56834	genome.wustl.edu	37	11	64055563	64055563	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:64055563G>A	ENST00000313074.3	+	4	765	c.660G>A	c.(658-660)gcG>gcA	p.A220A	GPR137_ENST00000539851.1_Silent_p.A220A|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000438980.2_Silent_p.A220A|GPR137_ENST00000411458.1_Silent_p.A278A	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	220						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						AGGCGGCCGCGATGGGTGGCG	0.647																																																	0													51.0	55.0	53.0					11																	64055563		2201	4297	6498	SO:0001819	synonymous_variant	56834			AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.660G>A	11.37:g.64055563G>A			B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	NULL	p.A220	ENST00000313074.3	37	c.660	CCDS8066.1	11																																																																																			GPR137	-	NULL		0.647	GPR137-003	KNOWN	basic|CCDS	protein_coding	GPR137	HGNC	protein_coding	OTTHUMT00000396412.1	G	NM_020155		64055563	+1	no_errors	ENST00000313074	ensembl	human	known	70_37	silent	SNP	0.006	A
GPR50	9248	genome.wustl.edu	37	X	150348749	150348749	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:150348749G>A	ENST00000218316.3	+	2	763	c.694G>A	c.(694-696)Gag>Aag	p.E232K	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	232					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCAACTTGCTGAGGTTCGCAA	0.542																																																	0													147.0	136.0	140.0					X																	150348749		2061	4188	6249	SO:0001583	missense	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.694G>A	X.37:g.150348749G>A	ENSP00000218316:p.Glu232Lys		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.E232K	ENST00000218316.3	37	c.694	CCDS44012.1	X	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165733	0.57476	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.74002	-0.8	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.048300	0.85682	D	0.000000	T	0.69070	0.3070	L	0.38838	1.175	0.46521	D	0.999089	B;B	0.31931	0.194;0.347	B;B	0.43701	0.059;0.428	T	0.61691	-0.7011	10	0.07175	T	0.84	-6.4648	13.7644	0.62986	0.0:0.0:1.0:0.0	.	185;232	F5H1S3;Q13585	.;MTR1L_HUMAN	K	185;232	ENSP00000218316:E232K	ENSP00000218316:E232K	E	+	1	0	GPR50	150099407	1.000000	0.71417	0.999000	0.59377	0.452000	0.32318	9.754000	0.98908	1.903000	0.55091	0.529000	0.55759	GAG	GPR50	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_Melatonin_rcpt		0.542	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	HGNC	protein_coding	OTTHUMT00000060874.1	G	NM_004224		150348749	+1	no_errors	ENST00000218316	ensembl	human	known	70_37	missense	SNP	1.000	A
GPRIN3	285513	genome.wustl.edu	37	4	90169501	90169501	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:90169501C>T	ENST00000609438.1	-	2	2279	c.1761G>A	c.(1759-1761)aaG>aaA	p.K587K	GPRIN3_ENST00000333209.4_Silent_p.K587K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	587										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTCCTGGTTCTTCCTAATTG	0.522																																																	0													105.0	104.0	104.0					4																	90169501		2203	4300	6503	SO:0001819	synonymous_variant	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1761G>A	4.37:g.90169501C>T			Q8IVE4	Silent	SNP	NULL	p.K587	ENST00000609438.1	37	c.1761	CCDS34030.1	4																																																																																			GPRIN3	-	NULL		0.522	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	C	NM_198281		90169501	-1	no_errors	ENST00000333209	ensembl	human	known	70_37	silent	SNP	0.000	T
GRIN2A	2903	genome.wustl.edu	37	16	9916129	9916129	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:9916129C>T	ENST00000396573.2	-	11	2469	c.2160G>A	c.(2158-2160)ctG>ctA	p.L720L	GRIN2A_ENST00000535259.1_Silent_p.L563L|GRIN2A_ENST00000562109.1_Silent_p.L720L|GRIN2A_ENST00000330684.3_Silent_p.L720L|GRIN2A_ENST00000404927.2_Silent_p.L720L|GRIN2A_ENST00000396575.2_Silent_p.L720L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	720					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACCCCGTTTTCAGGCTGACCA	0.468																																																	0													156.0	139.0	145.0					16																	9916129		2197	4300	6497	SO:0001819	synonymous_variant	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2160G>A	16.37:g.9916129C>T			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L720	ENST00000396573.2	37	c.2160	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	C			9916129	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	silent	SNP	1.000	T
GRIN2A	2903	genome.wustl.edu	37	16	9916191	9916191	+	Missense_Mutation	SNP	A	A	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:9916191A>T	ENST00000396573.2	-	11	2407	c.2098T>A	c.(2098-2100)Tac>Aac	p.Y700N	GRIN2A_ENST00000535259.1_Missense_Mutation_p.Y543N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Y700N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Y700N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Y700N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Y700N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	700					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGATGCATGTAGGGATAGTTA	0.463																																																	0													172.0	148.0	156.0					16																	9916191		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2098T>A	16.37:g.9916191A>T	ENSP00000379818:p.Tyr700Asn		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Y700N	ENST00000396573.2	37	c.2098	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070270	0.55539	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.65	5.65	0.86999	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.153166	0.56097	D	0.000037	T	0.10035	0.0246	N	0.02011	-0.69	0.42160	D	0.991599	B;B;B	0.29162	0.02;0.025;0.235	B;B;B	0.30105	0.008;0.014;0.111	T	0.32771	-0.9894	9	.	.	.	.	10.8146	0.46569	0.7345:0.2655:0.0:0.0	.	543;700;700	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	700;700;543;700;700	ENSP00000379818:Y700N;ENSP00000385872:Y700N;ENSP00000441572:Y543N;ENSP00000332549:Y700N;ENSP00000379820:Y700N	.	Y	-	1	0	GRIN2A	9823692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.298000	0.59067	2.146000	0.66826	0.533000	0.62120	TAC	GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	A			9916191	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	missense	SNP	1.000	T
GRK4	2868	genome.wustl.edu	37	4	3040219	3040219	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:3040219C>G	ENST00000398052.4	+	15	2005	c.1662C>G	c.(1660-1662)ttC>ttG	p.F554L	GRK4_ENST00000398051.4_Intron|GRK4_ENST00000504933.1_Intron|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.F522L	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	554					G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGGCTTCTTCTATAGACTCT	0.368																																																	0													93.0	101.0	99.0					4																	3040219		2203	4300	6503	SO:0001583	missense	2868				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1662C>G	4.37:g.3040219C>G	ENSP00000381129:p.Phe554Leu		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.F554L	ENST00000398052.4	37	c.1662	CCDS33946.1	4	.	.	.	.	.	.	.	.	.	.	C	2.071	-0.413114	0.04799	.	.	ENSG00000125388	ENST00000398052;ENST00000345167	T;T	0.64260	-0.09;-0.09	5.09	2.3	0.28687	.	0.000000	0.85682	U	0.000000	T	0.38852	0.1056	L	0.28504	0.86	0.80722	D	1	B;B	0.14012	0.009;0.005	B;B	0.16722	0.016;0.007	T	0.08493	-1.0719	10	0.10377	T	0.69	-9.2259	2.0461	0.03561	0.1758:0.4757:0.1731:0.1754	.	522;554	P32298-2;P32298	.;GRK4_HUMAN	L	554;522	ENSP00000381129:F554L;ENSP00000264764:F522L	ENSP00000264764:F522L	F	+	3	2	GRK4	3010017	0.019000	0.18553	0.614000	0.29051	0.742000	0.42306	0.179000	0.16840	0.625000	0.30304	0.462000	0.41574	TTC	GRK4	-	NULL		0.368	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2	C	NM_005307		3040219	+1	no_errors	ENST00000398052	ensembl	human	known	70_37	missense	SNP	0.928	G
GSN	2934	genome.wustl.edu	37	9	124047340	124047340	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:124047340G>A	ENST00000373823.3	+	9	896				GSN-AS1_ENST00000414544.1_RNA|GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_5'Flank|GSN_ENST00000394353.2_Intron|GSN_ENST00000412819.1_Intron|RP11-477J21.6_ENST00000437135.1_RNA			P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gtctgggcctgaaacatcacc	0.562																																																	0																																										SO:0001627	intron_variant	57000			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373823.3:c.-10+3500G>A	9.37:g.124047340G>A			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	SNP	-	NULL	ENST00000373823.3	37	NULL	CCDS6829.1	9																																																																																			GSN-AS1	-	-		0.562	GSN-013	KNOWN	basic|appris_principal|CCDS	protein_coding	GSN-AS1	HGNC	protein_coding	OTTHUMT00000254323.3	G	NM_000177		124047340	-1	no_errors	ENST00000414544	ensembl	human	known	70_37	rna	SNP	0.000	A
GSN	2934	genome.wustl.edu	37	9	124074512	124074512	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:124074512G>A	ENST00000373818.4	+	5	735				GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373807.1_5'UTR|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000394353.2_Intron|GSN_ENST00000412819.1_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGCAAGTGCAGAACAGGGTGA	0.572																																																	0																																										SO:0001627	intron_variant	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.667-105G>A	9.37:g.124074512G>A			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	SNP	-	NULL	ENST00000373818.4	37	NULL	CCDS6828.1	9																																																																																			GSN	-	-		0.572	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	G	NM_000177		124074512	+1	no_errors	ENST00000485767	ensembl	human	known	70_37	rna	SNP	0.102	A
GSTA5	221357	genome.wustl.edu	37	6	52696763	52696763	+	Silent	SNP	C	C	T	rs567319452		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:52696763C>T	ENST00000370989.2	-	6	581	c.552G>A	c.(550-552)ctG>ctA	p.L184L	GSTA5_ENST00000284562.2_Silent_p.L184L|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	184	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTCTGGTTTTCAGGGCCTGTA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		16984	0.001		0.0	False		,,,				2504	0.0																0													92.0	90.0	91.0					6																	52696763		2203	4300	6503	SO:0001819	synonymous_variant	221357			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.552G>A	6.37:g.52696763C>T			Q5SZC2	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.L184	ENST00000370989.2	37	c.552	CCDS4946.1	6																																																																																			GSTA5	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like		0.522	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA5	HGNC	protein_coding	OTTHUMT00000040917.1	C	NM_153699		52696763	-1	no_errors	ENST00000284562	ensembl	human	known	70_37	silent	SNP	0.462	T
HEATR5B	54497	genome.wustl.edu	37	2	37215840	37215840	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:37215840C>T	ENST00000233099.5	-	35	5955	c.5860G>A	c.(5860-5862)Gaa>Aaa	p.E1954K	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E1865K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1954						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTTATTCCTTCTTGAACCGCT	0.343																																																	0													74.0	73.0	74.0					2																	37215840		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5860G>A	2.37:g.37215840C>T	ENSP00000233099:p.Glu1954Lys		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1954K	ENST00000233099.5	37	c.5860	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968332	0.92855	.	.	ENSG00000008869	ENST00000425467;ENST00000233099;ENST00000354531	T;T	0.58797	0.6;0.31	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.050225	0.85682	N	0.000000	T	0.67088	0.2856	M	0.78456	2.415	0.37727	D	0.92512	B;B	0.24043	0.096;0.096	B;B	0.35607	0.206;0.206	T	0.71269	-0.4643	10	0.59425	D	0.04	-14.5063	18.7292	0.91728	0.0:1.0:0.0:0.0	.	1954;1954	Q9P2D3;B9EK47	HTR5B_HUMAN;.	K	55;1954;1865	ENSP00000233099:E1954K;ENSP00000346531:E1865K	ENSP00000233099:E1954K	E	-	1	0	HEATR5B	37069344	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.528000	0.81941	2.500000	0.84329	0.484000	0.47621	GAA	HEATR5B	-	superfamily_ARM-type_fold		0.343	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	C	NM_019024		37215840	-1	no_errors	ENST00000233099	ensembl	human	known	70_37	missense	SNP	1.000	T
MROH2B	133558	genome.wustl.edu	37	5	40998766	40998766	+	Silent	SNP	G	G	A	rs373077636		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:40998766G>A	ENST00000399564.4	-	41	5049	c.4599C>T	c.(4597-4599)ctC>ctT	p.L1533L	MROH2B_ENST00000506092.2_Silent_p.L1088L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1533																	TGGTCAAATTGAGAACAACGG	0.408																																																	0													82.0	83.0	82.0					5																	40998766		1868	4097	5965	SO:0001819	synonymous_variant	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4599C>T	5.37:g.40998766G>A			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	superfamily_ARM-type_fold	p.L1533	ENST00000399564.4	37	c.4599	CCDS47202.1	5																																																																																			HEATR7B2	-	superfamily_ARM-type_fold		0.408	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	G	NM_173489		40998766	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	silent	SNP	0.996	A
HIST1H4F	8361	genome.wustl.edu	37	6	26240851	26240851	+	Silent	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:26240851G>C	ENST00000377745.2	+	1	291	c.198G>C	c.(196-198)gtG>gtC	p.V66V		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGGAGAATGTGATACGGGACG	0.592																																																	0													90.0	77.0	81.0					6																	26240851		2203	4300	6503	SO:0001819	synonymous_variant	8361			M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"""Histones / Replication-dependent"""	4783	protein-coding gene	gene with protein product		602824	"""H4 histone family, member C"", ""histone 1, H4f"""	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.198G>C	6.37:g.26240851G>C			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.V66	ENST00000377745.2	37	c.198	CCDS4598.1	6																																																																																			HIST1H4F	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4		0.592	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4F	HGNC	protein_coding	OTTHUMT00000040106.1	G	NM_003540		26240851	+1	no_errors	ENST00000377745	ensembl	human	known	70_37	silent	SNP	0.991	C
HLA-DMB	3109	genome.wustl.edu	37	6	32906570	32906570	+	Silent	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:32906570G>C	ENST00000418107.2	-	2	490	c.228C>G	c.(226-228)ctC>ctG	p.L76L	HLA-DMB_ENST00000416244.2_Silent_p.L76L|XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.L108L|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	76	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GGTGCTGTGAGAGGACATTCG	0.537																																																	0													125.0	126.0	126.0					6																	32906570		1511	2709	4220	SO:0001819	synonymous_variant	3109				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.228C>G	6.37:g.32906570G>C			O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.L76	ENST00000418107.2	37	c.228	CCDS4760.1	6																																																																																			HLA-DMB	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N		0.537	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMB	HGNC	protein_coding	OTTHUMT00000076340.2	G	NM_002118		32906570	-1	no_errors	ENST00000418107	ensembl	human	known	70_37	silent	SNP	0.000	C
HLA-DMB	3109	genome.wustl.edu	37	6	32906678	32906678	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:32906678G>A	ENST00000418107.2	-	2	382	c.120C>T	c.(118-120)ttC>ttT	p.F40F	HLA-DMB_ENST00000416244.2_Silent_p.F40F|XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.F72F|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	40	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TGCAGTATGTGAAATCCTTTG	0.527																																																	0													117.0	128.0	124.0					6																	32906678		1509	2709	4218	SO:0001819	synonymous_variant	3109				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.120C>T	6.37:g.32906678G>A			O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.F40	ENST00000418107.2	37	c.120	CCDS4760.1	6																																																																																			HLA-DMB	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N		0.527	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMB	HGNC	protein_coding	OTTHUMT00000076340.2	G	NM_002118		32906678	-1	no_errors	ENST00000418107	ensembl	human	known	70_37	silent	SNP	0.515	A
HLA-DPB1	3115	genome.wustl.edu	37	6	33048688	33048689	+	Frame_Shift_Ins	INS	-	-	A	rs141530233|rs534577141	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:33048688_33048689insA	ENST00000418931.2	+	2	456_457	c.340_341insA	c.(340-342)gggfs	p.G114fs	HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Frame_Shift_Ins_p.G114fs|HLA-DPA1_ENST00000419277.1_5'Flank	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	114	Beta-1.		G -> E (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*03:02, allele DPB1*04:03, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:01, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*19:01, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*22:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*31:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*58:01, allele DPB1*63:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*85:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01, allele DPB1*97:01 and allele DPB1*98:01; dbSNP:rs9277354). {ECO:0000269|PubMed:6330724}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CGAGCTGGGCGGGCCCATGACC	0.708																																																	0										2094,2108		551,992,558						-3.9	0.0		dbSNP_134	20	2192,6010		354,1484,2263	no	frameshift	HLA-DPB1	NM_002121.5		905,2476,2821	A1A1,A1R,RR		26.7252,49.8334,34.5534				4286,8118				SO:0001589	frameshift_variant	3115				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	Exception_encountered	6.37:g.33048688_33048689insA	ENSP00000408146:p.Gly114fs		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Frame_Shift_Ins	INS	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.G114fs	ENST00000418931.2	37	c.340_341	CCDS4765.1	6																																																																																			HLA-DPB1	-	superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N		0.708	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DPB1	HGNC	protein_coding	OTTHUMT00000076106.2	-	NM_002121		33048689	+1	no_errors	ENST00000418931	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	A
HOXC5	3222	genome.wustl.edu	37	12	54428118	54428118	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:54428118G>C	ENST00000312492.2	+	2	781	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	RP11-834C11.12_ENST00000513209.1_Missense_Mutation_p.E75Q|RP11-834C11.14_ENST00000512206.1_RNA|MIR615_ENST00000384839.1_RNA|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	171					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TCTGGAACTCGAGAAAGAATT	0.532																																																	0													84.0	92.0	89.0					12																	54428118		2203	4300	6503	SO:0001583	missense	3222				CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.511G>C	12.37:g.54428118G>C	ENSP00000309336:p.Glu171Gln			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.E171Q	ENST00000312492.2	37	c.511	CCDS8872.1	12	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462927	0.63513	.	.	ENSG00000172789	ENST00000312492	D	0.97710	-4.5	4.13	3.23	0.37069	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.42548	D	0.000683	D	0.98776	0.9588	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98507	1.0617	10	0.87932	D	0	.	11.5647	0.50798	0.0973:0.0:0.9027:0.0	.	171	Q00444	HXC5_HUMAN	Q	171	ENSP00000309336:E171Q	ENSP00000309336:E171Q	E	+	1	0	HOXC5	52714385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.752000	0.85141	2.293000	0.77203	0.561000	0.74099	GAG	HOXC5	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_antennapedia		0.532	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC5	HGNC	protein_coding	OTTHUMT00000358947.1	G			54428118	+1	no_errors	ENST00000312492	ensembl	human	known	70_37	missense	SNP	1.000	C
HPSE2	60495	genome.wustl.edu	37	10	100249925	100249925	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:100249925C>T	ENST00000370552.3	-	10	1408	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	HPSE2_ENST00000370546.1_Missense_Mutation_p.R450H|HPSE2_ENST00000370549.1_Missense_Mutation_p.R392H|HPSE2_ENST00000404542.1_Missense_Mutation_p.R338H	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	450					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCCGATCAGGCGCTTGTAGAG	0.557																																																	0													81.0	82.0	82.0					10																	100249925		2203	4300	6503	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1349G>A	10.37:g.100249925C>T	ENSP00000359583:p.Arg450His		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.R450H	ENST00000370552.3	37	c.1349	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332532	0.60853	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.82	5.82	0.92795	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.065719	0.64402	D	0.000012	T	0.32102	0.0818	L	0.48935	1.535	0.42422	D	0.992648	B;B;B;B	0.28667	0.01;0.219;0.054;0.032	B;B;B;B	0.21360	0.005;0.034;0.017;0.007	T	0.09618	-1.0666	10	0.56958	D	0.05	-8.8517	13.3123	0.60386	0.0:0.9279:0.0:0.0721	.	338;450;392;450	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	H	450;392;450;338	ENSP00000359583:R450H;ENSP00000359580:R392H;ENSP00000359577:R450H;ENSP00000384384:R338H	ENSP00000359577:R450H	R	-	2	0	HPSE2	100239915	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	3.720000	0.54933	2.755000	0.94549	0.591000	0.81541	CGC	HPSE2	-	superfamily_Glycoside_hydrolase_SF		0.557	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	C	NM_021828		100249925	-1	no_errors	ENST00000370552	ensembl	human	known	70_37	missense	SNP	0.999	T
HPS6	79803	genome.wustl.edu	37	10	103826424	103826424	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:103826424C>T	ENST00000299238.5	+	1	1278	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	398					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GAGTTGCCTTCAGCCAAGGAT	0.592									Hermansky-Pudlak syndrome																																								0													45.0	46.0	46.0					10																	103826424		2202	4300	6502	SO:0001583	missense	79803	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1193C>T	10.37:g.103826424C>T	ENSP00000299238:p.Ser398Leu		Q5VV69|Q9H685	Missense_Mutation	SNP	pirsf_BLOC-2_complex_Hps6_subunit	p.S398L	ENST00000299238.5	37	c.1193	CCDS7527.1	10	.	.	.	.	.	.	.	.	.	.	C	2.958	-0.215228	0.06101	.	.	ENSG00000166189	ENST00000299238	T	0.79141	-1.24	4.78	1.81	0.25067	.	0.503475	0.20475	N	0.091610	T	0.53899	0.1825	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.27123	-1.0083	10	0.20046	T	0.44	-8.8677	4.4459	0.11597	0.0:0.6133:0.1856:0.2011	.	398	Q86YV9	HPS6_HUMAN	L	398	ENSP00000299238:S398L	ENSP00000299238:S398L	S	+	2	0	HPS6	103816414	0.011000	0.17503	0.645000	0.29479	0.862000	0.49288	1.062000	0.30555	1.242000	0.43836	-0.224000	0.12420	TCA	HPS6	-	pirsf_BLOC-2_complex_Hps6_subunit		0.592	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS6	HGNC	protein_coding	OTTHUMT00000050018.2	C	NM_024747		103826424	+1	no_errors	ENST00000299238	ensembl	human	known	70_37	missense	SNP	0.008	T
HSPA1L	3305	genome.wustl.edu	37	6	31778159	31778159	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:31778159C>G	ENST00000375654.4	-	2	1780	c.1591G>C	c.(1591-1593)Gat>Cat	p.D531H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.D531H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	531					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGGACCTCATCTTCAGCTTTA	0.458																																																	0													163.0	165.0	165.0					6																	31778159		2203	4300	6503	SO:0001583	missense	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1591G>C	6.37:g.31778159C>G	ENSP00000364805:p.Asp531His		A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D531H	ENST00000375654.4	37	c.1591	CCDS34413.1	6	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388206	0.42308	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.13089	2.62;2.62	5.55	4.69	0.59074	.	0.000000	0.35870	N	0.002936	T	0.56659	0.2000	H	0.99996	5.45	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.78770	-0.2074	10	0.87932	D	0	-18.2322	12.1878	0.54250	0.0:0.9185:0.0:0.0815	.	531	P34931	HS71L_HUMAN	H	531;531;476	ENSP00000364805:D531H;ENSP00000387691:D531H	ENSP00000364804:D476H	D	-	1	0	HSPA1L	31886138	1.000000	0.71417	0.277000	0.24703	0.540000	0.34992	5.899000	0.69846	1.595000	0.50050	-0.229000	0.12294	GAT	HSPA1L	-	pfam_Hsp_70_fam		0.458	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1L	HGNC	protein_coding	OTTHUMT00000076416.2	C			31778159	-1	no_errors	ENST00000375654	ensembl	human	known	70_37	missense	SNP	1.000	G
HSPA6	3310	genome.wustl.edu	37	1	161495804	161495804	+	Silent	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:161495804C>G	ENST00000309758.4	+	1	1769	c.1356C>G	c.(1354-1356)acC>acG	p.T452T	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	452					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGGCCATGACCAAGGACAACA	0.557																																																	0													92.0	89.0	90.0					1																	161495804		2203	4300	6503	SO:0001819	synonymous_variant	3310				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1356C>G	1.37:g.161495804C>G			Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.T452	ENST00000309758.4	37	c.1356	CCDS1231.1	1																																																																																			HSPA6	-	pfam_Hsp_70_fam		0.557	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1	C	NM_002155		161495804	+1	no_errors	ENST00000309758	ensembl	human	known	70_37	silent	SNP	1.000	G
IFI30	10437	genome.wustl.edu	37	19	18288689	18288689	+	Missense_Mutation	SNP	A	A	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:18288689A>G	ENST00000407280.3	+	7	896	c.721A>G	c.(721-723)Acc>Gcc	p.T241A	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	241					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)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CCCTTCCTCAACCAGCTCCCT	0.592																																																	0													43.0	46.0	45.0					19																	18288689		2002	4156	6158	SO:0001583	missense	10437			J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"""gamma-interferon-inducible lysosomal thiol reductase"", ""interferon gamma-inducible protein 30 preproprotein"""	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.721A>G	19.37:g.18288689A>G	ENSP00000384886:p.Thr241Ala		Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	pfam_Interferon-induced_GILT	p.T241A	ENST00000407280.3	37	c.721	CCDS46015.1	19	.	.	.	.	.	.	.	.	.	.	A	0.159	-1.083107	0.01888	.	.	ENSG00000216490	ENST00000407280	T	0.27557	1.66	3.23	-3.2	0.05156	.	.	.	.	.	T	0.06234	0.0161	N	0.00621	-1.32	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35126	-0.9801	9	0.06891	T	0.86	-34.8142	4.2146	0.10528	0.4927:0.1834:0.3239:0.0	.	241	P13284	GILT_HUMAN	A	241	ENSP00000384886:T241A	ENSP00000384886:T241A	T	+	1	0	IFI30	18149689	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.000000	0.12993	-0.537000	0.06290	-0.425000	0.05940	ACC	IFI30	-	NULL		0.592	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFI30	HGNC	protein_coding	OTTHUMT00000466396.3	A	NM_006332		18288689	+1	no_errors	ENST00000407280	ensembl	human	known	70_37	missense	SNP	0.000	G
IFNA21	3452	genome.wustl.edu	37	9	21166471	21166471	+	Silent	SNP	G	G	A	rs551245471		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:21166471G>A	ENST00000380225.1	-	1	188	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	47					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAAAGGAGAGATTCTTCCCA	0.522																																																	0													101.0	104.0	103.0					9																	21166471		2203	4298	6501	SO:0001819	synonymous_variant	3452				CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.141C>T	9.37:g.21166471G>A			Q14608|Q5VWD1|Q7M4Q4	Silent	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.I47	ENST00000380225.1	37	c.141	CCDS6497.1	9																																																																																			IFNA21	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core		0.522	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA21	HGNC	protein_coding	OTTHUMT00000051882.1	G	NM_002175		21166471	-1	no_errors	ENST00000380225	ensembl	human	known	70_37	silent	SNP	0.015	A
IGF2BP1	10642	genome.wustl.edu	37	17	47075053	47075053	+	5'UTR	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:47075053C>T	ENST00000290341.3	+	0	280				IGF2BP1_ENST00000431824.2_5'Flank|RP11-501C14.5_ENST00000505903.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1						CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCGCCGCCCGCGCCCGCTC	0.692																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0																																										SO:0001623	5_prime_UTR_variant	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.-55C>T	17.37:g.47075053C>T			C9JT33	RNA	SNP	-	NULL	ENST00000290341.3	37	NULL	CCDS11543.1	17																																																																																			IGF2BP1	-	-		0.692	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	C	NM_006546		47075053	+1	no_errors	ENST00000510023	ensembl	human	putative	70_37	rna	SNP	0.055	T
IGFN1	91156	genome.wustl.edu	37	1	201177197	201177197	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:201177197C>T	ENST00000335211.4	+	12	3306	c.3176C>T	c.(3175-3177)tCt>tTt	p.S1059F	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AATTGGGCCTCTGCATGCCAG	0.597																																																	0													51.0	51.0	51.0					1																	201177197		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.3176C>T	1.37:g.201177197C>T	ENSP00000334714:p.Ser1059Phe		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S1059F	ENST00000335211.4	37	c.3176	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152483	0.38021	.	.	ENSG00000163395	ENST00000335211	D	0.89875	-2.58	3.8	-5.02	0.02982	.	.	.	.	.	T	0.71151	0.3306	N	0.08118	0	0.23473	N	0.997607	.	.	.	.	.	.	T	0.60362	-0.7278	6	.	.	.	.	5.9784	0.19393	0.3404:0.2809:0.3788:0.0	.	.	.	.	F	1059	ENSP00000334714:S1059F	.	S	+	2	0	IGFN1	199443820	.	.	0.004000	0.12327	0.114000	0.19823	.	.	-0.793000	0.04475	-0.467000	0.05162	TCT	IGFN1	-	NULL		0.597	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		C	NM_178275		201177197	+1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.005	T
INTS7	25896	genome.wustl.edu	37	1	212118246	212118246	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:212118246C>T	ENST00000366994.3	-	19	2585	c.2481G>A	c.(2479-2481)ctG>ctA	p.L827L	INTS7_ENST00000366993.3_Silent_p.L813L|INTS7_ENST00000440600.2_Silent_p.L778L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.L807L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	827					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CCTTTAGCGCCAGCTGCTGGT	0.502																																																	0													109.0	101.0	103.0					1																	212118246		2203	4300	6503	SO:0001819	synonymous_variant	25896			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2481G>A	1.37:g.212118246C>T			B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	superfamily_ARM-type_fold	p.L827	ENST00000366994.3	37	c.2481	CCDS1501.1	1																																																																																			INTS7	-	NULL		0.502	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	C	NM_015434		212118246	-1	no_errors	ENST00000366994	ensembl	human	known	70_37	silent	SNP	1.000	T
IP6K2	51447	genome.wustl.edu	37	3	48731583	48731583	+	Intron	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:48731583C>G	ENST00000328631.5	-	2	426				IP6K2_ENST00000446860.1_3'UTR|IP6K2_ENST00000432678.2_3'UTR|IP6K2_ENST00000449610.1_3'UTR|IP6K2_ENST00000413298.1_Nonstop_Mutation_p.*98S|IP6K2_ENST00000436134.1_5'Flank|IP6K2_ENST00000450045.1_Nonstop_Mutation_p.*152S|IP6K2_ENST00000431721.2_3'UTR|IP6K2_ENST00000340879.4_Nonstop_Mutation_p.*98S	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2						cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GTGGGGTATTCAGGCCACACT	0.592																																																	0													22.0	25.0	24.0					3																	48731583		1759	3255	5014	SO:0001627	intron_variant	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.202+939G>C	3.37:g.48731583C>G			A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Nonstop_Mutation	SNP	NULL	p.*98S	ENST00000328631.5	37	c.293	CCDS2777.1	3	.	.	.	.	.	.	.	.	.	.	C	9.860	1.196012	0.22037	.	.	ENSG00000068745	ENST00000340879;ENST00000413298;ENST00000450045	.	.	.	5.49	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8855	0.46964	0.0:0.7981:0.1311:0.0708	.	.	.	.	S	98;98;152	.	.	X	-	2	2	IP6K2	48706587	1.000000	0.71417	0.548000	0.28192	0.448000	0.32197	3.508000	0.53378	0.651000	0.30788	0.467000	0.42956	TGA	IP6K2	-	NULL		0.592	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2	C	NM_016291		48731583	-1	no_errors	ENST00000340879	ensembl	human	known	70_37	nonstop	SNP	0.972	G
IRF9	10379	genome.wustl.edu	37	14	24632271	24632271	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:24632271G>C	ENST00000396864.3	+	3	564	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q	IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	93					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CAAGAGTTCTGAATTTAAGGA	0.532																																																	0													87.0	84.0	85.0					14																	24632271		2203	4300	6503	SO:0001583	missense	10379			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.277G>C	14.37:g.24632271G>C	ENSP00000380073:p.Glu93Gln		D3DS61	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.E93Q	ENST00000396864.3	37	c.277	CCDS9615.1	14	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977256	0.74360	.	.	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.97976	-4.64;-4.61	5.09	5.09	0.68999	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.64402	U	0.000003	D	0.98717	0.9569	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99787	1.1030	10	0.66056	D	0.02	-2.5624	17.2683	0.87093	0.0:0.0:1.0:0.0	.	93	Q00978	IRF9_HUMAN	Q	93;23	ENSP00000380073:E93Q;ENSP00000313529:E23Q	ENSP00000313529:E23Q	E	+	1	0	IRF9	23702111	1.000000	0.71417	0.930000	0.37139	0.235000	0.25334	8.997000	0.93544	2.379000	0.81126	0.655000	0.94253	GAA	IRF9	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom		0.532	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF9	HGNC	protein_coding	OTTHUMT00000071927.2	G			24632271	+1	no_errors	ENST00000396864	ensembl	human	known	70_37	missense	SNP	1.000	C
IRGM	345611	genome.wustl.edu	37	5	150228060	150228060	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:150228060G>A	ENST00000522154.1	+	2	1488	c.375G>A	c.(373-375)atG>atA	p.M125I		NM_001145805.1	NP_001139277.1	A1A4Y4	IRGM_HUMAN	immunity-related GTPase family, M	125	IRG-type G.				autophagy (GO:0006914)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)	cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)										AATTCAGCATGAATCATGTGA	0.507																																																	0													87.0	74.0	78.0					5																	150228060		692	1591	2283	SO:0001583	missense	345611			BC038539	CCDS47313.1	5q33.1	2012-02-21	2005-03-23	2005-03-23	ENSG00000237693	ENSG00000237693			29597	protein-coding gene	gene with protein product		608212	"""immunity-related GTPase family, M1"""	IRGM1		7561525, 14576437	Standard	NM_001145805		Approved	LRG47, LRG-47, IFI1	uc010jhk.3	A1A4Y4	OTTHUMG00000163647	ENST00000522154.1:c.375G>A	5.37:g.150228060G>A	ENSP00000428220:p.Met125Ile		B3VEX0	Missense_Mutation	SNP	pfam_Interferon-induced_GTPase	p.M125I	ENST00000522154.1	37	c.375	CCDS47313.1	5	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314749	0.40996	.	.	ENSG00000237693	ENST00000522154	T	0.21191	2.02	3.91	0.346	0.16017	.	.	.	.	.	T	0.14917	0.0360	L	0.36672	1.1	0.09310	N	1	P	0.35656	0.514	B	0.36030	0.216	T	0.20974	-1.0259	9	0.37606	T	0.19	.	5.865	0.18771	0.1259:0.481:0.3931:0.0	.	125	A1A4Y4	IRGM_HUMAN	I	125	ENSP00000428220:M125I	ENSP00000428220:M125I	M	+	3	0	IRGM	150208253	0.001000	0.12720	0.195000	0.23364	0.733000	0.41908	0.034000	0.13776	0.210000	0.20664	0.448000	0.29417	ATG	IRGM	-	pfam_Interferon-induced_GTPase		0.507	IRGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGM	HGNC	protein_coding	OTTHUMT00000374648.1	G	NM_001145805		150228060	+1	no_errors	ENST00000522154	ensembl	human	known	70_37	missense	SNP	0.024	A
IRGQ	126298	genome.wustl.edu	37	19	44097011	44097011	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:44097011C>G	ENST00000602269.1	-	2	1224	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_Missense_Mutation_p.E347Q|IRGQ_ENST00000601520.1_5'UTR			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	347	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TTGGGATTCTCCATCTTGCCT	0.592																																																	0													215.0	209.0	211.0					19																	44097011		2203	4300	6503	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.1039G>C	19.37:g.44097011C>G	ENSP00000472250:p.Glu347Gln		B2RNP3	Missense_Mutation	SNP	NULL	p.E347Q	ENST00000602269.1	37	c.1039	CCDS33040.1	19	.	.	.	.	.	.	.	.	.	.	C	6.480	0.456758	0.12283	.	.	ENSG00000167378	ENST00000422989	T	0.50813	0.73	4.05	2.99	0.34606	.	0.941536	0.08688	N	0.908456	T	0.35008	0.0917	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.15752	-1.0426	10	0.10636	T	0.68	.	12.2759	0.54735	0.0:0.828:0.172:0.0	.	347	Q8WZA9	IRGQ_HUMAN	Q	347	ENSP00000387535:E347Q	ENSP00000387535:E347Q	E	-	1	0	IRGQ	48788851	0.153000	0.22777	0.038000	0.18304	0.084000	0.17831	1.883000	0.39658	1.268000	0.44264	0.655000	0.94253	GAG	IRGQ	-	NULL		0.592	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	C	NM_001007561		44097011	-1	no_errors	ENST00000422989	ensembl	human	known	70_37	missense	SNP	0.079	G
ITFG1	81533	genome.wustl.edu	37	16	47252809	47252809	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:47252809C>T	ENST00000320640.6	-	14	1651	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	ITFG1_ENST00000544001.2_Missense_Mutation_p.D362N|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	475						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CCATTTGCATCTACAGTTGTA	0.338																																																	0													106.0	100.0	102.0					16																	47252809		2202	4297	6499	SO:0001583	missense	81533			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1423G>A	16.37:g.47252809C>T	ENSP00000319918:p.Asp475Asn		Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	NULL	p.D475N	ENST00000320640.6	37	c.1423	CCDS10728.1	16	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933673	0.34096	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.68025	-0.3;-0.3	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	M	0.69358	2.11	0.80722	D	1	P;D	0.76494	0.865;0.999	B;D	0.69479	0.391;0.964	T	0.81724	-0.0802	10	0.62326	D	0.03	-8.678	17.8988	0.88897	0.0:1.0:0.0:0.0	.	362;475	F5GXC5;Q8TB96	.;TIP_HUMAN	N	475;135;220;362	ENSP00000319918:D475N;ENSP00000441062:D362N	ENSP00000319918:D475N	D	-	1	0	ITFG1	45810310	1.000000	0.71417	0.967000	0.41034	0.772000	0.43724	5.723000	0.68492	2.520000	0.84964	0.455000	0.32223	GAT	ITFG1	-	NULL		0.338	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG1	HGNC	protein_coding	OTTHUMT00000256768.3	C	NM_030790		47252809	-1	no_errors	ENST00000320640	ensembl	human	known	70_37	missense	SNP	0.999	T
ITPR3	3710	genome.wustl.edu	37	6	33655086	33655086	+	Silent	SNP	C	C	T	rs368723045		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:33655086C>T	ENST00000374316.5	+	46	7219	c.6159C>T	c.(6157-6159)atC>atT	p.I2053I	ITPR3_ENST00000605930.1_Silent_p.I2053I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2053					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCCATAACATCTATATCCTGG	0.627																																																	0								C		0,4406		0,0,2203	62.0	52.0	55.0		6159	4.7	1.0	6		55	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ITPR3	NM_002224.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		2053/2672	33655086	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6159C>T	6.37:g.33655086C>T			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.I2053	ENST00000374316.5	37	c.6159	CCDS4783.1	6																																																																																			ITPR3	-	NULL		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	C	NM_002224		33655086	+1	no_errors	ENST00000374316	ensembl	human	known	70_37	silent	SNP	1.000	T
ITPR3	3710	genome.wustl.edu	37	6	33655092	33655092	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:33655092C>T	ENST00000374316.5	+	46	7225	c.6165C>T	c.(6163-6165)atC>atT	p.I2055I	ITPR3_ENST00000605930.1_Silent_p.I2055I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2055					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ACATCTATATCCTGGCGCTGC	0.622																																																	0													59.0	50.0	53.0					6																	33655092		2203	4300	6503	SO:0001819	synonymous_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6165C>T	6.37:g.33655092C>T			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.I2055	ENST00000374316.5	37	c.6165	CCDS4783.1	6																																																																																			ITPR3	-	NULL		0.622	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	C	NM_002224		33655092	+1	no_errors	ENST00000374316	ensembl	human	known	70_37	silent	SNP	1.000	T
JAKMIP3	282973	genome.wustl.edu	37	10	133946876	133946876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:133946876C>T	ENST00000298622.4	+	3	832	c.694C>T	c.(694-696)Caa>Taa	p.Q232*		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	232						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTTAGGGGTTCAAGCCGGGCA	0.562																																																	0													40.0	43.0	42.0					10																	133946876		1960	4139	6099	SO:0001587	stop_gained	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.694C>T	10.37:g.133946876C>T	ENSP00000298622:p.Gln232*		A6PW00|Q69YM6|Q6ZT29	Nonsense_Mutation	SNP	NULL	p.Q232*	ENST00000298622.4	37	c.694	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	C	38	6.696644	0.97772	.	.	ENSG00000188385	ENST00000298622	.	.	.	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-13.1541	17.3619	0.87353	0.0:1.0:0.0:0.0	.	.	.	.	X	232	.	ENSP00000298622:Q232X	Q	+	1	0	JAKMIP3	133796866	0.920000	0.31207	0.957000	0.39632	0.995000	0.86356	2.009000	0.40903	2.328000	0.79073	0.563000	0.77884	CAA	JAKMIP3	-	NULL		0.562	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	C	NM_194303		133946876	+1	no_errors	ENST00000298622	ensembl	human	known	70_37	nonsense	SNP	0.987	T
KBTBD7	84078	genome.wustl.edu	37	13	41768355	41768355	+	Silent	SNP	G	G	A	rs145321458	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:41768355G>A	ENST00000379483.3	-	1	347	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	13										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GGGGACTGGCGAGGCGGCGAG	0.657																																																	0													47.0	55.0	52.0					13																	41768355		2202	4300	6502	SO:0001819	synonymous_variant	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.39C>T	13.37:g.41768355G>A			B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L13	ENST00000379483.3	37	c.39	CCDS9377.1	13																																																																																			KBTBD7	-	pirsf_Kelch-like_gigaxonin		0.657	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1	G	NM_032138		41768355	-1	no_errors	ENST00000379483	ensembl	human	known	70_37	silent	SNP	0.856	A
KCNB2	9312	genome.wustl.edu	37	8	73849309	73849309	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:73849309G>C	ENST00000523207.1	+	3	2307	c.1719G>C	c.(1717-1719)gaG>gaC	p.E573D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	573					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)	ATGAAGAAGAGATTGAAATGG	0.502																																																	0													76.0	69.0	71.0					8																	73849309		2203	4300	6503	SO:0001583	missense	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.1719G>C	8.37:g.73849309G>C	ENSP00000430846:p.Glu573Asp		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.E573D	ENST00000523207.1	37	c.1719	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241968	0.58995	.	.	ENSG00000182674	ENST00000523207	T	0.38240	1.15	5.46	5.46	0.80206	.	0.963178	0.08474	N	0.940551	T	0.56171	0.1967	M	0.64997	1.995	0.33565	D	0.59793	D	0.89917	1.0	D	0.91635	0.999	T	0.58194	-0.7679	10	0.56958	D	0.05	.	7.1258	0.25471	0.2085:0.0:0.7915:0.0	.	573	Q92953	KCNB2_HUMAN	D	573	ENSP00000430846:E573D	ENSP00000430846:E573D	E	+	3	2	KCNB2	74011863	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.087000	0.50167	2.543000	0.85770	0.655000	0.94253	GAG	KCNB2	-	pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2		0.502	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	G	NM_004770		73849309	+1	no_errors	ENST00000523207	ensembl	human	known	70_37	missense	SNP	1.000	C
KCNH4	23415	genome.wustl.edu	37	17	40312447	40312447	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:40312447G>A	ENST00000264661.3	-	16	2997	c.2665C>T	c.(2665-2667)Cgt>Tgt	p.R889C	KCNH4_ENST00000607371.1_Missense_Mutation_p.R889C	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	889					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGATTGAGACGAGAGATCTGT	0.572																																					NSCLC(117;707 1703 2300 21308 31858)												0													38.0	40.0	39.0					17																	40312447		2203	4300	6503	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2665C>T	17.37:g.40312447G>A	ENSP00000264661:p.Arg889Cys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R889C	ENST00000264661.3	37	c.2665	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882306	0.33255	.	.	ENSG00000089558	ENST00000264661	D	0.98792	-5.14	4.95	2.94	0.34122	.	0.587151	0.12395	N	0.472626	D	0.94686	0.8286	N	0.14661	0.345	0.39998	D	0.975127	B	0.06786	0.001	B	0.01281	0.0	D	0.90619	0.4558	10	0.62326	D	0.03	.	5.9312	0.19140	0.0891:0.0:0.5748:0.3362	.	889	Q9UQ05	KCNH4_HUMAN	C	889	ENSP00000264661:R889C	ENSP00000264661:R889C	R	-	1	0	KCNH4	37565973	0.974000	0.33945	0.992000	0.48379	0.974000	0.67602	0.729000	0.26028	0.662000	0.31006	0.561000	0.74099	CGT	KCNH4	-	NULL		0.572	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	G	NM_012285		40312447	-1	no_errors	ENST00000264661	ensembl	human	known	70_37	missense	SNP	0.945	A
KCTD20	222658	genome.wustl.edu	37	6	36454677	36454677	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:36454677G>C	ENST00000373731.2	+	8	1376	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q	KCTD20_ENST00000536244.1_Missense_Mutation_p.E184Q|KCTD20_ENST00000544295.1_Missense_Mutation_p.E83Q|KCTD20_ENST00000449081.2_Missense_Mutation_p.E163Q|KCTD20_ENST00000474988.1_3'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	329					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TACCTGTAAAGAAAAAATTAA	0.443																																																	0													79.0	89.0	86.0					6																	36454677		2203	4300	6503	SO:0001583	missense	222658			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.985G>C	6.37:g.36454677G>C	ENSP00000362836:p.Glu329Gln		B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E329Q	ENST00000373731.2	37	c.985	CCDS4821.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.237052	0.95240	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.84	5.84	0.93424	.	0.060900	0.64402	N	0.000006	D	0.89473	0.6725	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.89448	0.3728	10	0.87932	D	0	-25.1887	20.1551	0.98106	0.0:0.0:1.0:0.0	.	163;329	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	Q	329;83;163;184	ENSP00000362836:E329Q;ENSP00000440150:E83Q;ENSP00000412205:E163Q;ENSP00000439118:E184Q	ENSP00000362836:E329Q	E	+	1	0	KCTD20	36562655	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.760000	0.94817	0.655000	0.94253	GAA	KCTD20	-	NULL		0.443	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD20	HGNC	protein_coding	OTTHUMT00000040345.2	G	NM_173562		36454677	+1	no_errors	ENST00000373731	ensembl	human	known	70_37	missense	SNP	1.000	C
KCTD8	386617	genome.wustl.edu	37	4	44450311	44450311	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:44450311G>A	ENST00000360029.3	-	1	513	c.230C>T	c.(229-231)tCt>tTt	p.S77F	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	77	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ACGGGGACTAGAGGGCGAGAA	0.652										HNSCC(17;0.042)																																							0													17.0	16.0	16.0					4																	44450311		2165	4230	6395	SO:0001583	missense	386617			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.230C>T	4.37:g.44450311G>A	ENSP00000353129:p.Ser77Phe		A2RU39	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.S77F	ENST00000360029.3	37	c.230	CCDS3467.1	4	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526812	0.44969	.	.	ENSG00000183783	ENST00000360029	T	0.77620	-1.11	3.41	3.41	0.39046	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.992695	0.08176	N	0.986302	T	0.79393	0.4438	L	0.50919	1.6	0.09310	N	1	P	0.45715	0.865	P	0.50314	0.637	T	0.67345	-0.5694	10	0.72032	D	0.01	.	8.8456	0.35168	0.0:0.2574:0.7426:0.0	.	77	Q6ZWB6	KCTD8_HUMAN	F	77	ENSP00000353129:S77F	ENSP00000353129:S77F	S	-	2	0	KCTD8	44145068	0.444000	0.25649	0.103000	0.21229	0.918000	0.54935	3.893000	0.56243	1.703000	0.51240	0.467000	0.42956	TCT	KCTD8	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.652	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	HGNC	protein_coding	OTTHUMT00000216868.1	G			44450311	-1	no_errors	ENST00000360029	ensembl	human	known	70_37	missense	SNP	0.048	A
KDM5B	10765	genome.wustl.edu	37	1	202700053	202700053	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:202700053C>G	ENST00000367265.3	-	25	5324	c.4160G>C	c.(4159-4161)aGa>aCa	p.R1387T	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1423T	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1387					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACTGCTGGGTCTCACTGGTGA	0.517																																																	0													101.0	81.0	88.0					1																	202700053		2203	4300	6503	SO:0001583	missense	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4160G>C	1.37:g.202700053C>G	ENSP00000356234:p.Arg1387Thr		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R1387T	ENST00000367265.3	37	c.4160	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226881	0.22542	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.85484	-1.85;-1.66;-1.99	5.93	5.02	0.67125	.	0.407176	0.25869	N	0.027764	T	0.70254	0.3203	N	0.12961	0.28	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.52689	-0.8542	10	0.11794	T	0.64	-2.5186	10.1248	0.42643	0.0:0.7909:0.1372:0.0719	.	1423;1387	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	T	1387;1229;1423;1229	ENSP00000356234:R1387T;ENSP00000356233:R1423T;ENSP00000235790:R1229T	ENSP00000235790:R1229T	R	-	2	0	KDM5B	200966676	0.002000	0.14202	0.004000	0.12327	0.747000	0.42532	1.410000	0.34691	1.512000	0.48834	0.561000	0.74099	AGA	KDM5B	-	NULL		0.517	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	C	NM_006618		202700053	-1	no_errors	ENST00000367265	ensembl	human	known	70_37	missense	SNP	0.003	G
CEP170B	283638	genome.wustl.edu	37	14	105351721	105351721	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:105351721G>C	ENST00000414716.3	+	10	2014	c.1786G>C	c.(1786-1788)Gag>Cag	p.E596Q	CEP170B_ENST00000418279.1_Missense_Mutation_p.E526Q|CEP170B_ENST00000453495.1_Missense_Mutation_p.E597Q|CEP170B_ENST00000556508.1_Missense_Mutation_p.E526Q	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	596						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TGGGGTGTTGGAGTCCCCTGA	0.632																																																	0													34.0	38.0	37.0					14																	105351721		1998	4167	6165	SO:0001583	missense	283638			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.1786G>C	14.37:g.105351721G>C	ENSP00000404151:p.Glu596Gln		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E597Q	ENST00000414716.3	37	c.1789	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508990	0.64410	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	3.72	3.72	0.42706	.	0.216858	0.37530	N	0.002056	T	0.44582	0.1300	L	0.54323	1.7	0.43014	D	0.994551	D;D;D	0.76494	0.999;0.993;0.996	D;P;P	0.70487	0.969;0.777;0.9	T	0.48736	-0.9009	10	0.72032	D	0.01	-28.3944	14.4142	0.67137	0.0:0.0:1.0:0.0	.	596;596;526	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	Q	526;596;597;526	ENSP00000451249:E526Q;ENSP00000404151:E596Q;ENSP00000407238:E597Q;ENSP00000415006:E526Q	ENSP00000404151:E596Q	E	+	1	0	KIAA0284	104422766	1.000000	0.71417	0.769000	0.31535	0.948000	0.59901	6.481000	0.73608	1.788000	0.52465	0.313000	0.20887	GAG	KIAA0284	-	NULL		0.632	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0284	HGNC	protein_coding	OTTHUMT00000410289.2	G	NM_001112726		105351721	+1	no_errors	ENST00000453495	ensembl	human	known	70_37	missense	SNP	0.975	C
ICE1	23379	genome.wustl.edu	37	5	5460805	5460805	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:5460805C>G	ENST00000296564.7	+	13	1580	c.1358C>G	c.(1357-1359)tCt>tGt	p.S453C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		453					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						AGAGAATCTTCTGCCACACAC	0.408																																																	0													77.0	73.0	74.0					5																	5460805		1961	4139	6100	SO:0001583	missense	23379																														ENST00000296564.7:c.1358C>G	5.37:g.5460805C>G	ENSP00000296564:p.Ser453Cys		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.S453C	ENST00000296564.7	37	c.1358	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752799	0.69648	.	.	ENSG00000164151	ENST00000296564	T	0.46819	0.86	4.38	3.49	0.39957	.	1.715800	0.03185	N	0.172578	T	0.52092	0.1713	L	0.27053	0.805	0.09310	N	1	D	0.65815	0.995	P	0.55824	0.785	T	0.48822	-0.9001	10	0.87932	D	0	-0.9789	8.7686	0.34717	0.0:0.8865:0.0:0.1135	.	453	Q9Y2F5	K0947_HUMAN	C	453	ENSP00000296564:S453C	ENSP00000296564:S453C	S	+	2	0	KIAA0947	5513805	0.010000	0.17322	0.004000	0.12327	0.867000	0.49689	1.725000	0.38074	2.130000	0.65690	0.305000	0.20034	TCT	KIAA0947	-	NULL		0.408	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	C			5460805	+1	no_errors	ENST00000296564	ensembl	human	known	70_37	missense	SNP	0.002	G
KIAA1107	23285	genome.wustl.edu	37	1	92632614	92632614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:92632614C>T	ENST00000409154.4	+	1	73	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	KIAA1107_ENST00000370378.4_5'UTR			Q9UPP5	K1107_HUMAN	KIAA1107	25										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						CATGGCGTCTCAGCTTCAAGA	0.383																																																	0																																										SO:0001587	stop_gained	23285			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000409154.4:c.73C>T	1.37:g.92632614C>T	ENSP00000386957:p.Gln25*		O14767|Q8N3X7	Nonsense_Mutation	SNP	NULL	p.Q25*	ENST00000409154.4	37	c.73		1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441396	0.83993	.	.	ENSG00000069712	ENST00000409154	.	.	.	5.98	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	10.2517	0.43372	0.3573:0.5442:0.0985:0.0	.	.	.	.	X	25	.	ENSP00000386957:Q25X	Q	+	1	0	KIAA1107	92405202	0.518000	0.26234	0.998000	0.56505	0.616000	0.37450	2.151000	0.42263	1.522000	0.49001	-0.291000	0.09656	CAG	KIAA1107	-	NULL		0.383	KIAA1107-201	KNOWN	basic	protein_coding	KIAA1107	HGNC	protein_coding		C	XM_034086		92632614	+1	no_errors	ENST00000409154	ensembl	human	known	70_37	nonsense	SNP	0.563	T
KIAA1549L	25758	genome.wustl.edu	37	11	33682526	33682526	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:33682526G>A	ENST00000321505.4	+	19	5414	c.5234G>A	c.(5233-5235)gGa>gAa	p.G1745E	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G1751E			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1745						integral component of membrane (GO:0016021)											TCCTATGCAGGAGAGAATGAG	0.517																																																	0													33.0	37.0	35.0					11																	33682526		1939	4144	6083	SO:0001583	missense	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5234G>A	11.37:g.33682526G>A	ENSP00000315295:p.Gly1745Glu		B0QYU0	Missense_Mutation	SNP	NULL	p.G1751E	ENST00000321505.4	37	c.5252	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265077	0.59431	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	4.86	4.86	0.63082	.	0.227895	0.29715	N	0.011393	T	0.51652	0.1687	N	0.19112	0.55	0.34256	D	0.679364	D	0.59767	0.986	P	0.54060	0.741	T	0.66779	-0.5837	9	0.66056	D	0.02	.	16.1908	0.81987	0.0:0.0:1.0:0.0	.	1751	E9PAT2	.	E	1745;1751;1584	.	ENSP00000315295:G1745E	G	+	2	0	C11orf41	33639102	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.807000	0.75201	2.250000	0.74265	0.491000	0.48974	GGA	KIAA1549L	-	NULL		0.517	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	G	NM_012194		33682526	+1	no_errors	ENST00000389726	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1841	84542	genome.wustl.edu	37	2	61315639	61315640	+	Intron	DEL	TA	TA	-	rs377349663|rs375991537	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:61315639_61315640delTA	ENST00000402291.1	+	10	1329				KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Intron|KIAA1841_ENST00000356719.2_Intron|KIAA1841_ENST00000453873.1_Intron	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841											breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			tgtatttttgtatatatatata	0.391																																																	0									,	335,63,3410		22,3,288,4,52,1535					,	-1.2	0.0			16	699,131,6732		46,2,605,7,115,3006	no	intron,intron	KIAA1841	NM_032506.2,NM_001129993.1	,	68,5,893,11,167,4541	A1A1,A1A2,A1R,A2A2,A2R,RR		10.9759,10.4517,10.8004	,	,		1034,194,10142				SO:0001627	intron_variant	84542			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1088+36TA>-	2.37:g.61315649_61315650delTA			Q49AF0|Q6ZND0|Q96JI6	RNA	DEL	-	NULL	ENST00000402291.1	37	NULL	CCDS46296.1	2																																																																																			KIAA1841	-	-		0.391	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1	TA	NM_032506		61315640	+1	no_errors	ENST00000482513	ensembl	human	known	70_37	rna	DEL	0.001:0.000	-
KIAA2022	340533	genome.wustl.edu	37	X	73960815	73960815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:73960815G>A	ENST00000055682.6	-	3	4188	c.3577C>T	c.(3577-3579)Cag>Tag	p.Q1193*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1193					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGTTTTTCTGAGAAGAGCTT	0.423																																																	0													79.0	76.0	77.0					X																	73960815		2203	4300	6503	SO:0001587	stop_gained	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3577C>T	X.37:g.73960815G>A	ENSP00000055682:p.Gln1193*		A7YY87|Q5JUX9|Q8IVE9	Nonsense_Mutation	SNP	NULL	p.Q1193*	ENST00000055682.6	37	c.3577	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	G	47	13.730897	0.99759	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	.	.	.	4.75	4.75	0.60458	.	0.459579	0.24152	N	0.041068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-6.4728	17.006	0.86393	0.0:0.0:1.0:0.0	.	.	.	.	X	1193	.	ENSP00000055682:Q1193X	Q	-	1	0	KIAA2022	73877540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.372000	0.79612	2.192000	0.70111	0.600000	0.82982	CAG	KIAA2022	-	NULL		0.423	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	G	NM_001008537		73960815	-1	no_errors	ENST00000055682	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KIF13B	23303	genome.wustl.edu	37	8	29025072	29025072	+	Missense_Mutation	SNP	T	T	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:29025072T>G	ENST00000524189.1	-	11	1014	c.976A>C	c.(976-978)Atg>Ctg	p.M326L	KIF13B_ENST00000521515.1_Missense_Mutation_p.M326L	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	326	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTAGCCACCATGGCGGTCTTG	0.473																																																	0													113.0	110.0	111.0					8																	29025072		1978	4155	6133	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.976A>C	8.37:g.29025072T>G	ENSP00000427900:p.Met326Leu		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M326L	ENST00000524189.1	37	c.976	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366071	0.82463	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.77229	-1.08;-1.08	4.67	4.67	0.58626	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.86698	0.5995	M	0.71920	2.185	0.80722	D	1	P;D;D	0.89917	0.856;0.989;1.0	D;D;D	0.91635	0.91;0.987;0.999	D	0.88418	0.3026	10	0.87932	D	0	.	14.2837	0.66232	0.0:0.0:0.0:1.0	.	312;326;326	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	L	326	ENSP00000427900:M326L;ENSP00000429201:M326L	ENSP00000429201:M326L	M	-	1	0	KIF13B	29080991	1.000000	0.71417	0.997000	0.53966	0.641000	0.38312	7.803000	0.85983	1.967000	0.57214	0.459000	0.35465	ATG	KIF13B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom		0.473	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	T			29025072	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF1B	23095	genome.wustl.edu	37	1	10384847	10384847	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:10384847G>C	ENST00000377086.1	+	26	2771	c.2569G>C	c.(2569-2571)Gat>Cat	p.D857H	KIF1B_ENST00000263934.6_Missense_Mutation_p.D811H|KIF1B_ENST00000377081.1_Missense_Mutation_p.D857H			O60333	KIF1B_HUMAN	kinesin family member 1B	857					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)		AGAGATGTATGATAGGGCAGG	0.453																																																	0													171.0	164.0	167.0					1																	10384847		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.2569G>C	1.37:g.10384847G>C	ENSP00000366290:p.Asp857His		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.D811H	ENST00000377086.1	37	c.2431		1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033475	0.75504	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.76968	-1.06;-1.06;-1.06	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.84857	0.5565	L	0.43757	1.38	0.80722	D	1	D;D;D;P;P;B	0.89917	0.967;0.967;1.0;0.943;0.465;0.376	P;P;D;P;B;B	0.97110	0.838;0.838;1.0;0.733;0.251;0.163	D	0.83425	0.0035	10	0.41790	T	0.15	.	19.4313	0.94768	0.0:0.0:1.0:0.0	.	843;817;857;831;857;811	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	H	857;811;857;857	ENSP00000263934:D811H;ENSP00000366290:D857H;ENSP00000366284:D857H	ENSP00000263934:D811H	D	+	1	0	KIF1B	10307434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.688000	0.91661	0.650000	0.86243	GAT	KIF1B	-	pfam_KIF1B		0.453	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G			10384847	+1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF2C	11004	genome.wustl.edu	37	1	45232560	45232560	+	Silent	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:45232560C>G	ENST00000372224.4	+	20	2147	c.2034C>G	c.(2032-2034)acC>acG	p.T678T	RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372222.3_Silent_p.T565T|KIF2C_ENST00000372218.4_Silent_p.T637T|KIF2C_ENST00000372217.1_Silent_p.T624T	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	678					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ACCTGGAGACCTTTGTGAACA	0.557																																																	0													90.0	83.0	85.0					1																	45232560		2203	4300	6503	SO:0001819	synonymous_variant	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.2034C>G	1.37:g.45232560C>G			B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T678	ENST00000372224.4	37	c.2034	CCDS512.1	1																																																																																			KIF2C	-	NULL		0.557	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1	C	NM_006845		45232560	+1	no_errors	ENST00000372224	ensembl	human	known	70_37	silent	SNP	0.984	G
KIF26B	55083	genome.wustl.edu	37	1	245850611	245850611	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:245850611G>A	ENST00000407071.2	+	12	4766	c.4326G>A	c.(4324-4326)ctG>ctA	p.L1442L	KIF26B_ENST00000366518.4_Silent_p.L1061L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1442					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACCCGTGGCTGAAACGAGAAG	0.547																																																	0													16.0	19.0	18.0					1																	245850611		1957	4157	6114	SO:0001819	synonymous_variant	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4326G>A	1.37:g.245850611G>A			Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L1442	ENST00000407071.2	37	c.4326	CCDS44342.1	1																																																																																			KIF26B	-	NULL		0.547	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245850611	+1	no_errors	ENST00000407071	ensembl	human	known	70_37	silent	SNP	0.123	A
KIF4B	285643	genome.wustl.edu	37	5	154393825	154393825	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:154393825C>T	ENST00000435029.4	+	1	566	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	136	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAATTTACTCTGAAAGTGTC	0.373																																																	0													91.0	97.0	95.0					5																	154393825		2203	4300	6503	SO:0001819	synonymous_variant	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.406C>T	5.37:g.154393825C>T				Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L136	ENST00000435029.4	37	c.406	CCDS47324.1	5																																																																																			KIF4B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.373	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	C			154393825	+1	no_errors	ENST00000435029	ensembl	human	known	70_37	silent	SNP	0.362	T
KIFAP3	22920	genome.wustl.edu	37	1	170024468	170024468	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:170024468C>T	ENST00000361580.2	-	2	369	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	KIFAP3_ENST00000367767.1_Intron|KIFAP3_ENST00000367765.1_Missense_Mutation_p.E8K|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000538366.1_5'UTR	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	48					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTTTTCGTTCTCCCAACATG	0.338																																																	0													92.0	90.0	90.0					1																	170024468		2203	4300	6503	SO:0001583	missense	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.142G>A	1.37:g.170024468C>T	ENSP00000354560:p.Glu48Lys		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E48K	ENST00000361580.2	37	c.142	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.190487	0.94923	.	.	ENSG00000075945	ENST00000361580;ENST00000367765	T;T	0.56941	0.43;0.43	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.69993	-0.4994	9	.	.	.	-22.0989	18.318	0.90227	0.0:1.0:0.0:0.0	.	48	Q92845	KIFA3_HUMAN	K	48;8	ENSP00000354560:E48K;ENSP00000356739:E8K	.	E	-	1	0	KIFAP3	168291092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.422000	0.82143	0.591000	0.81541	GAA	KIFAP3	-	NULL		0.338	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	C	NM_014970		170024468	-1	no_errors	ENST00000361580	ensembl	human	known	70_37	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	GL000209.1	66852	66852	+	IGR	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrGL000209.1:66852G>C								None (None upstream) : None (None downstream)																							TCACGAAGCAGAGGCCAGAGA	0.542																																																	0																																										SO:0001628	intergenic_variant	3813																															GL000209.1.37:g.66852G>C				Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.Q274H		37	c.822		GL000209.1																																																																																			KIR3DS1	-	NULL	0	0.542					KIR3DS1	HGNC			G			66852	+1	no_errors	ENST00000400851	ensembl	human	known	70_37	missense	SNP	NULL	C
KLHL36	79786	genome.wustl.edu	37	16	84695457	84695457	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:84695457C>G	ENST00000564996.1	+	5	1710	c.1569C>G	c.(1567-1569)tgC>tgG	p.C523W	KLHL36_ENST00000258157.5_Missense_Mutation_p.C460W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	523					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GCCCGCAGTGCAACCAGTGGA	0.672																																																	0													46.0	40.0	42.0					16																	84695457		2199	4300	6499	SO:0001583	missense	79786			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1569C>G	16.37:g.84695457C>G	ENSP00000456743:p.Cys523Trp		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C523W	ENST00000564996.1	37	c.1569	CCDS10948.1	16	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680585	0.68042	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.77489	-1.1	5.49	4.34	0.51931	Kelch-type beta propeller (1);	0.048727	0.85682	D	0.000000	D	0.84234	0.5427	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.68483	0.954;0.958	D	0.85375	0.1116	10	0.72032	D	0.01	.	13.1005	0.59218	0.0:0.8678:0.0:0.1322	.	460;523	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	W	523;460	ENSP00000258157:C460W	ENSP00000258157:C460W	C	+	3	2	KLHL36	83252958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.075000	0.30716	2.583000	0.87209	0.655000	0.94253	TGC	KLHL36	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.672	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	HGNC	protein_coding	OTTHUMT00000269084.2	C			84695457	+1	no_errors	ENST00000564996	ensembl	human	known	70_37	missense	SNP	1.000	G
KLHL38	340359	genome.wustl.edu	37	8	124658171	124658171	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:124658171C>T	ENST00000325995.7	-	3	1577	c.1554G>A	c.(1552-1554)gtG>gtA	p.V518V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	518										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGTTTCCCATCACTGTGGCCC	0.547																																																	0													97.0	108.0	104.0					8																	124658171		2099	4225	6324	SO:0001819	synonymous_variant	340359				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1554G>A	8.37:g.124658171C>T			A0PK12	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V518	ENST00000325995.7	37	c.1554	CCDS43766.1	8																																																																																			KLHL38	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.547	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	C			124658171	-1	no_errors	ENST00000325995	ensembl	human	known	70_37	silent	SNP	1.000	T
KLHL4	56062	genome.wustl.edu	37	X	86873030	86873030	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:86873030C>T	ENST00000373119.4	+	4	968	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	KLHL4_ENST00000373114.4_Missense_Mutation_p.L275F	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	275						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTCCAATTTTCTCATAAAGCA	0.438																																																	0													106.0	87.0	93.0					X																	86873030		2203	4300	6503	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.823C>T	X.37:g.86873030C>T	ENSP00000362211:p.Leu275Phe		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.L275F	ENST00000373119.4	37	c.823	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490799	0.64074	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.83075	-1.68;-1.68	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.176767	0.39985	N	0.001209	D	0.89880	0.6843	H	0.94698	3.57	0.80722	D	1	B;B	0.31077	0.307;0.262	B;B	0.39935	0.314;0.209	D	0.91504	0.5221	10	0.87932	D	0	.	15.6428	0.77020	0.0:1.0:0.0:0.0	.	275;275	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	F	275	ENSP00000362211:L275F;ENSP00000362206:L275F	ENSP00000362206:L275F	L	+	1	0	KLHL4	86759686	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.527000	0.67123	1.878000	0.54408	0.502000	0.49764	CTC	KLHL4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.438	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	C			86873030	+1	no_errors	ENST00000373114	ensembl	human	known	70_37	missense	SNP	1.000	T
KLLN	100144748	genome.wustl.edu	37	10	89622151	89622151	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:89622151G>A	ENST00000445946.3	-	1	1043	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	PTEN_ENST00000371953.3_5'Flank	NM_001126049.1	NP_001119521.1	B2CW77	KILIN_HUMAN	killin, p53-regulated DNA replication inhibitor	32					apoptotic process (GO:0006915)|cell cycle (GO:0007049)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)	1						CTGGGCTGCAGCTTCCTACCG	0.652																																																	0													71.0	67.0	68.0					10																	89622151		692	1591	2283	SO:0001819	synonymous_variant	100144748				CCDS44454.1	10q23	2011-02-18	2011-02-18		ENSG00000227268	ENSG00000227268			37212	protein-coding gene	gene with protein product		612105				18385383	Standard	NM_001126049		Approved	killin	uc009xti.3	B2CW77		ENST00000445946.3:c.94C>T	10.37:g.89622151G>A				Silent	SNP	NULL	p.L32	ENST00000445946.3	37	c.94	CCDS44454.1	10																																																																																			KLLN	-	NULL		0.652	KLLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLLN	HGNC	protein_coding	OTTHUMT00000473179.1	G	NM_001126049		89622151	-1	no_errors	ENST00000445946	ensembl	human	known	70_37	silent	SNP	0.991	A
KPNA5	3841	genome.wustl.edu	37	6	117023290	117023290	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:117023290G>A	ENST00000368564.1	+	6	692	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	KPNA5_ENST00000356348.1_Missense_Mutation_p.E182K			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	179	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TCTTAATTCTGAACATGAAGA	0.353																																																	0													94.0	95.0	95.0					6																	117023290		2203	4300	6503	SO:0001583	missense	3841			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.544G>A	6.37:g.117023290G>A	ENSP00000357552:p.Glu182Lys		B2RAI5|Q86X23	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.E182K	ENST00000368564.1	37	c.544	CCDS5111.1	6	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312354	0.81358	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.29142	1.58;1.58	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22589	0.0545	L	0.46157	1.445	0.52501	D	0.999951	B	0.28584	0.216	B	0.31614	0.133	T	0.05500	-1.0881	10	0.66056	D	0.02	.	19.3845	0.94551	0.0:0.0:1.0:0.0	.	179	O15131	IMA5_HUMAN	K	182	ENSP00000357552:E182K;ENSP00000348704:E182K	ENSP00000348704:E182K	E	+	1	0	KPNA5	117129983	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.257000	0.78362	2.596000	0.87737	0.591000	0.81541	GAA	KPNA5	-	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.353	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA5	HGNC	protein_coding	OTTHUMT00000041967.1	G	NM_002269		117023290	+1	no_errors	ENST00000356348	ensembl	human	known	70_37	missense	SNP	1.000	A
KPNA5	3841	genome.wustl.edu	37	6	117023296	117023296	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:117023296G>A	ENST00000368564.1	+	6	698	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	KPNA5_ENST00000356348.1_Missense_Mutation_p.E184K			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	181	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTCTGAACATGAAGATGTTCA	0.343																																																	0													93.0	93.0	93.0					6																	117023296		2203	4300	6503	SO:0001583	missense	3841			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.550G>A	6.37:g.117023296G>A	ENSP00000357552:p.Glu184Lys		B2RAI5|Q86X23	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.E184K	ENST00000368564.1	37	c.550	CCDS5111.1	6	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834847	0.71373	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.70869	-0.52;-0.52	5.51	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.064272	0.64402	D	0.000013	T	0.72922	0.3521	M	0.75085	2.285	0.43032	D	0.994609	D	0.56746	0.977	P	0.60682	0.878	T	0.72513	-0.4270	10	0.18710	T	0.47	.	14.496	0.67688	0.0713:0.0:0.9287:0.0	.	181	O15131	IMA5_HUMAN	K	184	ENSP00000357552:E184K;ENSP00000348704:E184K	ENSP00000348704:E184K	E	+	1	0	KPNA5	117129989	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.066000	0.93949	1.330000	0.45394	0.591000	0.81541	GAA	KPNA5	-	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.343	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA5	HGNC	protein_coding	OTTHUMT00000041967.1	G	NM_002269		117023296	+1	no_errors	ENST00000356348	ensembl	human	known	70_37	missense	SNP	1.000	A
KRTAP10-3	386682	genome.wustl.edu	37	21	45978470	45978470	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:45978470C>T	ENST00000391620.1	-	1	173	c.129G>A	c.(127-129)ctG>ctA	p.L43L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	43	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						AGACCAGGGTCAGGCAGGGGG	0.711																																																	0													25.0	27.0	26.0					21																	45978470		2131	4225	6356	SO:0001819	synonymous_variant	386682			AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.129G>A	21.37:g.45978470C>T			A3KN67|Q70LJ4	Silent	SNP	NULL	p.L43	ENST00000391620.1	37	c.129	CCDS42956.1	21																																																																																			KRTAP10-3	-	NULL		0.711	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-3	HGNC	protein_coding	OTTHUMT00000128031.1	C			45978470	-1	no_errors	ENST00000391620	ensembl	human	known	70_37	silent	SNP	0.203	T
L3MBTL4	91133	genome.wustl.edu	37	18	6238035	6238035	+	Missense_Mutation	SNP	C	C	T	rs371583101		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:6238035C>T	ENST00000284898.6	-	10	912	c.712G>A	c.(712-714)Gat>Aat	p.D238N	L3MBTL4_ENST00000400104.3_Missense_Mutation_p.D238N|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.D238N|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.D51N|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.D238N	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	238					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CTATTAACATCGCACCTGCAA	0.433																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0								C	ASN/ASP	0,4406		0,0,2203	160.0	135.0	143.0		712	4.0	1.0	18		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	L3MBTL4	NM_173464.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	238/624	6238035	1,13005	2203	4300	6503	SO:0001583	missense	91133			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.712G>A	18.37:g.6238035C>T	ENSP00000284898:p.Asp238Asn		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.D238N	ENST00000284898.6	37	c.712	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823835	0.71143	0.0	1.16E-4	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.9	4.03	0.46877	.	0.000000	0.64402	D	0.000009	T	0.63082	0.2481	M	0.67517	2.055	0.42205	D	0.991787	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.969	T	0.62148	-0.6915	10	0.38643	T	0.18	.	10.9339	0.47235	0.0:0.907:0.0:0.093	.	238;238	Q8NA19;F8W9S8	LMBL4_HUMAN;.	N	238;238;238;51;238	ENSP00000382976:D238N;ENSP00000318543:D238N;ENSP00000284898:D238N;ENSP00000444774:D51N;ENSP00000382975:D238N	ENSP00000284898:D238N	D	-	1	0	L3MBTL4	6228035	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	5.462000	0.66707	1.065000	0.40693	0.585000	0.79938	GAT	L3MBTL4	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.433	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	C	NM_173464		6238035	-1	no_errors	ENST00000284898	ensembl	human	known	70_37	missense	SNP	1.000	T
LAS1L	81887	genome.wustl.edu	37	X	64732513	64732513	+	3'UTR	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:64732513C>T	ENST00000374811.3	-	0	2387				LAS1L_ENST00000374804.5_3'UTR|LAS1L_ENST00000374807.5_3'UTR|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)						rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AAAAGACATTCAAAATTCCCC	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.*142G>A	X.37:g.64732513C>T			A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	RNA	SNP	-	NULL	ENST00000374811.3	37	NULL	CCDS14381.1	X																																																																																			LAS1L	-	-		0.463	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	C	NM_031206		64732513	-1	no_errors	ENST00000484069	ensembl	human	known	70_37	rna	SNP	0.000	T
LAS1L	81887	genome.wustl.edu	37	X	64749560	64749560	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:64749560G>A	ENST00000374811.3	-	5	753	c.713C>T	c.(712-714)tCa>tTa	p.S238L	LAS1L_ENST00000374804.5_Missense_Mutation_p.S196L|LAS1L_ENST00000374807.5_Missense_Mutation_p.S238L|LAS1L_ENST00000312391.8_Missense_Mutation_p.S238L	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	238					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTTTACATCTGACTCCGTACT	0.453																																																	0													215.0	173.0	187.0					X																	64749560		2203	4300	6503	SO:0001583	missense	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.713C>T	X.37:g.64749560G>A	ENSP00000363944:p.Ser238Leu		A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	pfam_Las1	p.S238L	ENST00000374811.3	37	c.713	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	G	7.276	0.608132	0.14002	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.18	0.092	0.14470	.	0.781562	0.11454	N	0.562478	T	0.11750	0.0286	N	0.01267	-0.92	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33929	-0.9849	9	0.18710	T	0.47	.	8.4439	0.32830	0.3645:0.0:0.6355:0.0	.	196;238;238	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	L	238;238;196;238	.	ENSP00000308649:S238L	S	-	2	0	LAS1L	64666285	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.145000	0.10265	-0.005000	0.14395	0.600000	0.82982	TCA	LAS1L	-	NULL		0.453	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	G	NM_031206		64749560	-1	no_errors	ENST00000374811	ensembl	human	known	70_37	missense	SNP	0.000	A
LDHAL6A	160287	genome.wustl.edu	37	11	18485562	18485562	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:18485562G>A	ENST00000280706.2	+	2	978	c.181G>A	c.(181-183)Gag>Aag	p.E61K	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.E61K	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	61					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						ACTGAAGGGTGAGACAATGGA	0.363																																																	0													167.0	140.0	150.0					11																	18485562		2199	4293	6492	SO:0001583	missense	160287			AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.181G>A	11.37:g.18485562G>A	ENSP00000280706:p.Glu61Lys		D3DQY5	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.E61K	ENST00000280706.2	37	c.181	CCDS7841.1	11	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637568	0.87760	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.91945	-2.94;-2.94	3.95	3.95	0.45737	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000011	D	0.94719	0.8296	L	0.56396	1.775	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95315	0.8415	10	0.87932	D	0	.	14.6094	0.68504	0.0:0.0:1.0:0.0	.	61	Q6ZMR3	LDH6A_HUMAN	K	61	ENSP00000379516:E61K;ENSP00000280706:E61K	ENSP00000280706:E61K	E	+	1	0	LDHAL6A	18442138	1.000000	0.71417	0.719000	0.30619	0.972000	0.66771	3.864000	0.56024	1.764000	0.52075	0.655000	0.94253	GAG	LDHAL6A	-	pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH		0.363	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LDHAL6A	HGNC	protein_coding	OTTHUMT00000395904.1	G	NM_144972		18485562	+1	no_errors	ENST00000280706	ensembl	human	known	70_37	missense	SNP	1.000	A
LDLRAP1	26119	genome.wustl.edu	37	1	25894729	25894729	+	3'UTR	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:25894729G>A	ENST00000374338.4	+	0	2292				LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1						amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAATGCAAGTGTTTGAAGT	0.488																																																	0																																										SO:0001624	3_prime_UTR_variant	26119			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.*1246G>A	1.37:g.25894729G>A			A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	RNA	SNP	-	NULL	ENST00000374338.4	37	NULL	CCDS30639.1	1																																																																																			LDLRAP1	-	-		0.488	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	HGNC	protein_coding	OTTHUMT00000019350.3	G	NM_015627		25894729	+1	no_errors	ENST00000488127	ensembl	human	known	70_37	rna	SNP	0.982	A
LEPR	3953	genome.wustl.edu	37	1	66067544	66067544	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:66067544C>T	ENST00000349533.6	+	10	1489	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	LEPR_ENST00000371059.3_Missense_Mutation_p.S435L|LEPR_ENST00000371060.3_Missense_Mutation_p.S435L|LEPR_ENST00000344610.8_Missense_Mutation_p.S435L|LEPR_ENST00000371058.1_Missense_Mutation_p.S435L|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATCAATATCTCATGTGAAACT	0.294																																																	0													92.0	93.0	93.0					1																	66067544		2203	4300	6503	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1304C>T	1.37:g.66067544C>T	ENSP00000330393:p.Ser435Leu		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S435L	ENST00000349533.6	37	c.1304	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250082	0.39797	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.0	4.09	0.47781	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.488742	0.22375	N	0.060897	T	0.20007	0.0481	L	0.44542	1.39	0.80722	D	1	B;B;B	0.30406	0.023;0.039;0.278	B;B;B	0.31191	0.038;0.106;0.125	T	0.08229	-1.0732	10	0.62326	D	0.03	-7.6402	9.3087	0.37891	0.1524:0.7691:0.0:0.0785	.	435;435;435	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	L	435	ENSP00000340884:S435L;ENSP00000330393:S435L;ENSP00000360099:S435L;ENSP00000360098:S435L;ENSP00000360097:S435L	ENSP00000340884:S435L	S	+	2	0	LEPR	65840132	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.078000	0.50096	1.107000	0.41642	0.460000	0.39030	TCA	LEPR	-	superfamily_Fibronectin_type3		0.294	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	C	NM_002303		66067544	+1	no_errors	ENST00000349533	ensembl	human	known	70_37	missense	SNP	1.000	T
LIMCH1	22998	genome.wustl.edu	37	4	41631748	41631748	+	Intron	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:41631748C>T	ENST00000313860.7	+	9	989				LIMCH1_ENST00000509277.1_Intron|LIMCH1_ENST00000396595.3_Intron|LIMCH1_ENST00000512820.1_Intron|LIMCH1_ENST00000503057.1_Missense_Mutation_p.A423V|LIMCH1_ENST00000512946.1_Intron|LIMCH1_ENST00000512632.1_Intron|LIMCH1_ENST00000381753.4_Intron|LIMCH1_ENST00000513024.1_Intron|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000508501.1_Intron|LIMCH1_ENST00000514096.1_Intron	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1						actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCAGAAAAGGCGAGGTGTGTC	0.483																																																	0																																										SO:0001627	intron_variant	22998			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.936-9201C>T	4.37:g.41631748C>T			A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A423V	ENST00000313860.7	37	c.1268	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	C	7.796	0.712650	0.15306	.	.	ENSG00000064042	ENST00000503057;ENST00000313875	T	0.43688	0.94	5.0	3.27	0.37495	.	0.989823	0.08215	N	0.980080	T	0.30823	0.0777	.	.	.	0.09310	N	1	B	0.26935	0.164	B	0.19666	0.026	T	0.18650	-1.0330	9	0.51188	T	0.08	-0.2298	7.6743	0.28476	0.293:0.629:0.0:0.078	.	423	G5EA03	.	V	423;422	ENSP00000425631:A423V	ENSP00000316974:A422V	A	+	2	0	LIMCH1	41326505	0.001000	0.12720	0.005000	0.12908	0.169000	0.22640	0.188000	0.17018	1.480000	0.48289	0.585000	0.79938	GCG	LIMCH1	-	NULL		0.483	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	C	NM_014988		41631748	+1	no_errors	ENST00000503057	ensembl	human	known	70_37	missense	SNP	0.001	T
LINC00346	283487	genome.wustl.edu	37	13	111521805	111521805	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:111521805G>A	ENST00000538077.1	-	1	357	c.333C>T	c.(331-333)ctC>ctT	p.L111L				Q8IVM7	CM029_HUMAN	long intergenic non-protein coding RNA 346	111																	CACAAAATCTGAGTGAAAACG	0.542																																																	0													122.0	111.0	114.0					13																	111521805		692	1591	2283	SO:0001819	synonymous_variant	283487					13q34	2014-06-17	2011-08-10	2011-08-10	ENSG00000255874	ENSG00000255874		"""Long non-coding RNAs"""	27492	non-coding RNA	RNA, long non-coding			"""chromosome 13 open reading frame 29"", ""non-protein coding RNA 346"""	C13orf29, NCRNA00346			Standard	NR_027701		Approved		uc001vrk.2	Q8IVM7	OTTHUMG00000187398	ENST00000538077.1:c.333C>T	13.37:g.111521805G>A				Silent	SNP	NULL	p.L111	ENST00000538077.1	37	c.333		13																																																																																			LINC00346	-	NULL		0.542	LINC00346-201	KNOWN	basic|appris_principal	protein_coding	LINC00346	HGNC	protein_coding		G	NR_027701		111521805	-1	no_errors	ENST00000538077	ensembl	human	known	70_37	silent	SNP	0.696	A
LINC00588	26138	genome.wustl.edu	37	8	58192372	58192372	+	lincRNA	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:58192372C>T	ENST00000521663.1	+	0	271					NR_026772.1		Q9Y4M8	CH071_HUMAN	long intergenic non-protein coding RNA 588																		ACCTCGTTCTCTGGGCGCAGG	0.637																																																	0																																												26138					8q12.1	2012-10-12	2012-04-17	2012-04-17	ENSG00000215117	ENSG00000215117		"""Long non-coding RNAs"""	24494	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 71"""	C8orf71		11230166	Standard	NR_026772		Approved	DKFZP434F122	uc003xtg.3	Q9Y4M8	OTTHUMG00000164424		8.37:g.58192372C>T				RNA	SNP	-	NULL	ENST00000521663.1	37	NULL		8																																																																																			LINC00588	-	-		0.637	LINC00588-001	KNOWN	basic	lincRNA	LINC00588	HGNC	lincRNA	OTTHUMT00000378704.1	C	NR_026772		58192372	+1	no_errors	ENST00000521663	ensembl	human	known	70_37	rna	SNP	0.222	T
NMNAT3	349565	genome.wustl.edu	37	3	139302129	139302129	+	Intron	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:139302129C>G	ENST00000296202.7	-	4	491				RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000511444.1_Intron|NMNAT3_ENST00000512391.1_Intron|NMNAT3_ENST00000413939.2_Intron|RN7SKP124_ENST00000364730.1_RNA|NMNAT3_ENST00000339837.5_Intron|NMNAT3_ENST00000507242.1_5'Flank|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000406824.1_Intron|NMNAT3_ENST00000406164.1_Intron			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3						NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CTTTTACCATCTGTTTCATTT	0.338																																																	0																																										SO:0001627	intron_variant	100507291			AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.110-4232G>C	3.37:g.139302129C>G			B3KVR6|D3DNF2|D3DNF3|Q8N4G1	RNA	SNP	-	NULL	ENST00000296202.7	37	NULL		3																																																																																			RP11-319G6.1	-	-		0.338	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	LOC100507291	Clone_based_vega_gene	protein_coding	OTTHUMT00000358469.1	C	NM_178177		139302129	+1	no_errors	ENST00000515247	ensembl	human	known	70_37	rna	SNP	1.000	G
OVOS2	144203	genome.wustl.edu	37	12	31267342	31267342	+	RNA	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:31267342G>A	ENST00000542490.1	-	0	813																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						TTTCCAAGTAGAAAAGAACAT	0.303																																																	0																																												100509445																															12.37:g.31267342G>A				RNA	SNP	-	NULL	ENST00000542490.1	37	NULL		12																																																																																			RP11-551L14.1	-	-		0.303	RP11-551L14.1-003	KNOWN	basic	processed_transcript	LOC100509445	Clone_based_vega_gene	pseudogene	OTTHUMT00000400342.1	G			31267342	-1	no_errors	ENST00000391394	ensembl	human	known	70_37	rna	SNP	1.000	A
AL603965.1	0	genome.wustl.edu	37	10	47769385	47769385	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:47769385C>A	ENST00000335083.5	+	2	484	c.206C>A	c.(205-207)tCg>tAg	p.S69*																								GTGTTCACATCGGCTGGGAAG	0.632																																																	0																																										SO:0001587	stop_gained	101060462																														ENST00000335083.5:c.206C>A	10.37:g.47769385C>A	ENSP00000334090:p.Ser69*			Nonsense_Mutation	SNP	NULL	p.S69*	ENST00000335083.5	37	c.206		10	.	.	.	.	.	.	.	.	.	.	.	15.07	2.724424	0.48728	.	.	ENSG00000215033	ENST00000335083	.	.	.	1.42	-2.84	0.05751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.2027	0.15273	0.2752:0.5676:0.1572:0.0	.	.	.	.	X	69	.	ENSP00000334090:S69X	S	+	2	0	AL603965.1	47239391	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.947000	0.03901	-2.605000	0.00448	-2.150000	0.00334	TCG	AL603965.1	-	NULL		0.632	AL603965.1-201	NOVEL	basic|appris_principal	protein_coding	LOC101060462	Clone_based_ensembl_gene	protein_coding		C			47769385	+1	no_errors	ENST00000335083	ensembl	human	known	70_37	nonsense	SNP	0.000	A
SMG1P3	100271836	genome.wustl.edu	37	16	21475009	21475009	+	RNA	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:21475009C>T	ENST00000520823.2	-	0	462																											AAAGTCATTACAATTAAAGAC	0.299																																																	0																																												101060596																															16.37:g.21475009C>T				RNA	SNP	-	NULL	ENST00000520823.2	37	NULL		16																																																																																			CTD-2547E10.2	-	-		0.299	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	LOC101060596	Clone_based_vega_gene	pseudogene	OTTHUMT00000378302.2	C			21475009	-1	no_errors	ENST00000522841	ensembl	human	known	70_37	rna	SNP	0.087	T
LINC00969	440993	genome.wustl.edu	37	3	195415427	195415427	+	lincRNA	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:195415427C>A	ENST00000445430.1	+	0	8416									long intergenic non-protein coding RNA 969																		GACAACACATCACACACAAGA	0.433																																																	0																																												440993			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195415427C>A				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			AC069513.3	-	-		0.433	LINC00969-038	KNOWN	basic	lincRNA	LOC440993	Clone_based_vega_gene	lincRNA	OTTHUMT00000341951.1	C			195415427	+1	no_errors	ENST00000420851	ensembl	human	known	70_37	rna	SNP	0.063	A
LPIN2	9663	genome.wustl.edu	37	18	2938016	2938016	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:2938016G>C	ENST00000261596.4	-	7	1080	c.842C>G	c.(841-843)tCt>tGt	p.S281C		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	281					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATGATGGTCAGATCGTTCTCT	0.353																																																	0													126.0	119.0	122.0					18																	2938016		2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.842C>G	18.37:g.2938016G>C	ENSP00000261596:p.Ser281Cys		A7MD25|D3DUH3	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.S281C	ENST00000261596.4	37	c.842	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	G	9.884	1.202287	0.22121	.	.	ENSG00000101577	ENST00000261596	T	0.81078	-1.45	5.86	3.02	0.34903	.	1.532730	0.03027	N	0.151510	T	0.80177	0.4575	M	0.71036	2.16	0.09310	N	1	P	0.36027	0.533	B	0.38921	0.285	T	0.61133	-0.7124	10	0.59425	D	0.04	0.4316	1.763	0.02996	0.1985:0.1516:0.483:0.1669	.	281	Q92539	LPIN2_HUMAN	C	281	ENSP00000261596:S281C	ENSP00000261596:S281C	S	-	2	0	LPIN2	2928016	0.127000	0.22367	0.011000	0.14972	0.800000	0.45204	2.722000	0.47269	0.338000	0.23692	0.655000	0.94253	TCT	LPIN2	-	NULL		0.353	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	G	NM_014646		2938016	-1	no_errors	ENST00000261596	ensembl	human	known	70_37	missense	SNP	0.001	C
LRG1	116844	genome.wustl.edu	37	19	4538642	4538642	+	Silent	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:4538642C>G	ENST00000306390.6	-	2	814	c.354G>C	c.(352-354)ctG>ctC	p.L118L	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'UTR	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	118					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCACCCTCAGCTGCGGCA	0.627																																																	0													19.0	23.0	22.0					19																	4538642		2196	4292	6488	SO:0001819	synonymous_variant	116844				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.354G>C	19.37:g.4538642C>G			Q8N4F5|Q96QZ4	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L118	ENST00000306390.6	37	c.354	CCDS12130.1	19																																																																																			LRG1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.627	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	C	NM_052972		4538642	-1	no_errors	ENST00000306390	ensembl	human	known	70_37	silent	SNP	0.003	G
LRRC8D	55144	genome.wustl.edu	37	1	90400119	90400119	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:90400119G>A	ENST00000337338.5	+	3	1899	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	LRRC8D_ENST00000394593.3_Missense_Mutation_p.E498K	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	498					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCTAAAGCTTGAACTAATTCC	0.498																																																	0													47.0	49.0	48.0					1																	90400119		2201	4300	6501	SO:0001583	missense	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1492G>A	1.37:g.90400119G>A	ENSP00000338887:p.Glu498Lys		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E498K	ENST00000337338.5	37	c.1492	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367721	0.82463	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.32272	1.46;1.46	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	L	0.60957	1.885	0.80722	D	1	D	0.55800	0.973	D	0.67725	0.953	T	0.07712	-1.0758	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	498	Q7L1W4	LRC8D_HUMAN	K	498	ENSP00000338887:E498K;ENSP00000378093:E498K	.	E	+	1	0	LRRC8D	90172707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	GAA	LRRC8D	-	NULL		0.498	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	G	NM_018103		90400119	+1	no_errors	ENST00000337338	ensembl	human	known	70_37	missense	SNP	1.000	A
LRSAM1	90678	genome.wustl.edu	37	9	130251773	130251773	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:130251773G>A	ENST00000323301.4	+	18	2002	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L	LRSAM1_ENST00000300417.6_Silent_p.L466L|LRSAM1_ENST00000373322.1_Silent_p.L466L|LRSAM1_ENST00000373324.4_Silent_p.L466L|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	466					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						AGAAAGACCTGATGCATCGGC	0.642																																																	0													58.0	46.0	50.0					9																	130251773		2203	4300	6503	SO:0001819	synonymous_variant	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.1398G>A	9.37:g.130251773G>A			Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	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.L466	ENST00000323301.4	37	c.1398	CCDS6873.1	9																																																																																			LRSAM1	-	NULL		0.642	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130251773	+1	no_errors	ENST00000300417	ensembl	human	known	70_37	silent	SNP	0.937	A
MAGED1	9500	genome.wustl.edu	37	X	51641680	51641680	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:51641680G>A	ENST00000375722.1	+	10	2037	c.1785G>A	c.(1783-1785)gtG>gtA	p.V595V	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Silent_p.V651V|MAGED1_ENST00000375772.3_Silent_p.V595V|MAGED1_ENST00000326587.7_Silent_p.V595V			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	595	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTTCAGGGTGAGACATCCCC	0.443										Multiple Myeloma(10;0.10)																																							0													161.0	145.0	151.0					X																	51641680		2203	4300	6503	SO:0001819	synonymous_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1785G>A	X.37:g.51641680G>A			Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.V651	ENST00000375722.1	37	c.1953	CCDS14337.1	X																																																																																			MAGED1	-	pfam_MAGE,pfscan_MAGE		0.443	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	G	NM_001005332		51641680	+1	no_errors	ENST00000375695	ensembl	human	known	70_37	silent	SNP	1.000	A
MAP3K19	80122	genome.wustl.edu	37	2	135738524	135738524	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:135738524C>T	ENST00000375845.3	-	9	3817	c.3787G>A	c.(3787-3789)Ggg>Agg	p.G1263R	MAP3K19_ENST00000315513.3_Missense_Mutation_p.G124R|MAP3K19_ENST00000375844.3_Missense_Mutation_p.G445R|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.G397R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G1150R|MAP3K19_ENST00000392917.3_Missense_Mutation_p.G395R	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GGAGGCTTCCCTGTAGCCATC	0.507																																																	0													80.0	73.0	75.0					2																	135738524		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3787G>A	2.37:g.135738524C>T	ENSP00000365005:p.Gly1263Arg		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	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.G1263R	ENST00000375845.3	37	c.3787	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719730	0.89205	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.6	5.6	0.85130	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	0.45126	D	0.000394	T	0.64494	0.2603	M	0.67517	2.055	0.80722	D	1	D;D;D;D;D	0.76494	0.966;0.996;0.958;0.958;0.999	P;D;P;P;D	0.72338	0.723;0.961;0.601;0.601;0.977	T	0.65434	-0.6169	10	0.62326	D	0.03	.	18.6071	0.91271	0.0:1.0:0.0:0.0	.	395;1150;397;445;1263	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	R	1263;1150;445;397;395;653;124	ENSP00000365005:G1263R;ENSP00000351140:G1150R;ENSP00000365004:G445R;ENSP00000376650:G397R;ENSP00000376649:G395R;ENSP00000392827:G653R;ENSP00000321160:G124R	ENSP00000321160:G124R	G	-	1	0	YSK4	135454994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.616000	0.83018	2.629000	0.89072	0.591000	0.81541	GGG	MAP3K19	-	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		0.507	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	C	NM_025052		135738524	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	missense	SNP	1.000	T
MAP4	4134	genome.wustl.edu	37	3	47963325	47963325	+	Silent	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:47963325G>T	ENST00000360240.6	-	5	977	c.459C>A	c.(457-459)gtC>gtA	p.V153V	MAP4_ENST00000395734.3_Silent_p.V153V|MAP4_ENST00000383737.4_Silent_p.V153V|MAP4_ENST00000426837.2_Silent_p.V170V	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	153					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGAGGGAAAGACCAAATCTG	0.388																																																	0													130.0	120.0	124.0					3																	47963325		2203	4300	6503	SO:0001819	synonymous_variant	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.459C>A	3.37:g.47963325G>T			Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.V153	ENST00000360240.6	37	c.459	CCDS33750.1	3																																																																																			MAP4	-	NULL		0.388	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	G	NM_002375		47963325	-1	no_errors	ENST00000360240	ensembl	human	known	70_37	silent	SNP	0.956	T
MAP4K1	11184	genome.wustl.edu	37	19	39100263	39100263	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:39100263G>A	ENST00000591517.1	-	13	1007	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	MAP4K1_ENST00000396857.2_Silent_p.L327L|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Silent_p.L327L|MAP4K1_ENST00000589130.1_Silent_p.L323L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	327					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGATCCCCAGAGAGCTGGAG	0.587																																																	0													50.0	53.0	52.0					19																	39100263		1960	4167	6127	SO:0001819	synonymous_variant	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.979C>T	19.37:g.39100263G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L327	ENST00000591517.1	37	c.979	CCDS59385.1	19																																																																																			MAP4K1	-	superfamily_Kinase-like_dom		0.587	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	HGNC	protein_coding	OTTHUMT00000453390.1	G	NM_001042600		39100263	-1	no_errors	ENST00000591517	ensembl	human	known	70_37	silent	SNP	0.801	A
MAPK9	5601	genome.wustl.edu	37	5	179688761	179688761	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:179688761G>A	ENST00000452135.2	-	5	671	c.373C>T	c.(373-375)Cat>Tat	p.H125Y	MAPK9_ENST00000539014.1_Missense_Mutation_p.H125Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.H125Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.H125Y|MAPK9_ENST00000425491.2_Missense_Mutation_p.H125Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.H125Y|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.H125Y|MAPK9_ENST00000524170.1_5'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTCTTTCATGATCCAGCTCC	0.338																																																	0													149.0	155.0	153.0					5																	179688761		2203	4300	6503	SO:0001583	missense	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.373C>T	5.37:g.179688761G>A	ENSP00000394560:p.His125Tyr		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.H125Y	ENST00000452135.2	37	c.373	CCDS4453.1	5	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768728	0.90020	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85379	0.5683	N	0.16833	0.445	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.993	D	0.88085	0.2809	10	0.72032	D	0.01	-25.0825	18.8282	0.92127	0.0:0.0:1.0:0.0	.	125;125;125;125;125	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	Y	125	ENSP00000394560:H125Y;ENSP00000377028:H125Y;ENSP00000389338:H125Y;ENSP00000345524:H125Y;ENSP00000321410:H125Y;ENSP00000397422:H125Y;ENSP00000443149:H125Y	ENSP00000345524:H125Y	H	-	1	0	MAPK9	179621367	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.731000	0.98807	2.441000	0.82636	0.462000	0.41574	CAT	MAPK9	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK		0.338	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3	G			179688761	-1	no_errors	ENST00000452135	ensembl	human	known	70_37	missense	SNP	1.000	A
MAPKAPK2	9261	genome.wustl.edu	37	1	206904645	206904646	+	Intron	DEL	GT	GT	-	rs184349902|rs368231892	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:206904645_206904646delGT	ENST00000367103.3	+	7	1085				MAPKAPK2_ENST00000479009.1_3'UTR|MAPKAPK2_ENST00000294981.4_Intron	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GGAAGAGCCCgtgtgtgtgtgt	0.525																																																	0																																										SO:0001627	intron_variant	9261			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.892+38GT>-	1.37:g.206904655_206904656delGT			Q5SY30|Q5SY41|Q8IYD6	RNA	DEL	-	NULL	ENST00000367103.3	37	NULL	CCDS31001.1	1																																																																																			MAPKAPK2	-	-		0.525	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPKAPK2	HGNC	protein_coding	OTTHUMT00000088465.1	GT	NM_004759		206904646	+1	no_errors	ENST00000479009	ensembl	human	putative	70_37	rna	DEL	0.000:0.000	-
MARCO	8685	genome.wustl.edu	37	2	119749366	119749366	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:119749366G>A	ENST00000327097.4	+	14	1257	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	MARCO_ENST00000541757.1_Silent_p.V296V	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	374	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTGCAGGTGTGAAGGGAGAAC	0.577																																					GBM(8;18 374 7467 11269 32796)												0													30.0	29.0	29.0					2																	119749366		2198	4298	6496	SO:0001819	synonymous_variant	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1122G>A	2.37:g.119749366G>A			B4DW79|Q9Y5S3	Silent	SNP	pfam_Collagen,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.V374	ENST00000327097.4	37	c.1122	CCDS2124.1	2																																																																																			MARCO	-	pfam_Collagen		0.577	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	G	NM_006770		119749366	+1	no_errors	ENST00000327097	ensembl	human	known	70_37	silent	SNP	0.186	A
MAST3	23031	genome.wustl.edu	37	19	18254611	18254611	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:18254611C>T	ENST00000262811.6	+	21	2291	c.2291C>T	c.(2290-2292)tCa>tTa	p.S764L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	764	Poly-Ser.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCCTGTCAGTCATCTTCGTCC	0.602																																																	0													34.0	37.0	36.0					19																	18254611		2039	4191	6230	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2291C>T	19.37:g.18254611C>T	ENSP00000262811:p.Ser764Leu		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.S764L	ENST00000262811.6	37	c.2291	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783039	0.31593	.	.	ENSG00000099308	ENST00000262811	T	0.68181	-0.31	3.6	2.54	0.30619	.	0.297248	0.32231	N	0.006398	T	0.56426	0.1984	L	0.55017	1.72	0.09310	N	0.999999	B	0.32717	0.381	B	0.26969	0.075	T	0.51434	-0.8706	10	0.49607	T	0.09	-3.159	10.3728	0.44064	0.0:0.9011:0.0:0.0989	.	764	O60307	MAST3_HUMAN	L	764	ENSP00000262811:S764L	ENSP00000262811:S764L	S	+	2	0	MAST3	18115611	0.022000	0.18835	0.171000	0.22900	0.703000	0.40648	2.096000	0.41738	0.725000	0.32318	0.491000	0.48974	TCA	MAST3	-	NULL		0.602	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	C	XM_038150		18254611	+1	no_errors	ENST00000262811	ensembl	human	known	70_37	missense	SNP	0.254	T
MAST3	23031	genome.wustl.edu	37	19	18254622	18254622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:18254622C>T	ENST00000262811.6	+	21	2302	c.2302C>T	c.(2302-2304)Cag>Tag	p.Q768*	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	768							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ATCTTCGTCCCAGCCCGAGCG	0.617																																																	0													34.0	37.0	36.0					19																	18254622		2019	4178	6197	SO:0001587	stop_gained	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2302C>T	19.37:g.18254622C>T	ENSP00000262811:p.Gln768*		Q7LDZ8|Q9UPI0	Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.Q768*	ENST00000262811.6	37	c.2302	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.580272	0.96565	.	.	ENSG00000099308	ENST00000262811	.	.	.	4.66	3.61	0.41365	.	0.454564	0.22616	N	0.057764	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-32.3799	10.5797	0.45248	0.0:0.9064:0.0:0.0936	.	.	.	.	X	768	.	ENSP00000262811:Q768X	Q	+	1	0	MAST3	18115622	1.000000	0.71417	0.653000	0.29593	0.420000	0.31355	4.053000	0.57427	2.157000	0.67596	0.491000	0.48974	CAG	MAST3	-	NULL		0.617	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	C	XM_038150		18254622	+1	no_errors	ENST00000262811	ensembl	human	known	70_37	nonsense	SNP	0.963	T
MAST3	23031	genome.wustl.edu	37	19	18255851	18255851	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:18255851C>T	ENST00000262811.6	+	23	2764	c.2764C>T	c.(2764-2766)Ccg>Tcg	p.P922S	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	922	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCCCTTTCCCCGCGCTCTCT	0.687																																																	0													28.0	34.0	32.0					19																	18255851		1924	4122	6046	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2764C>T	19.37:g.18255851C>T	ENSP00000262811:p.Pro922Ser		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.P922S	ENST00000262811.6	37	c.2764	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230444	0.39399	.	.	ENSG00000099308	ENST00000262811	T	0.69806	-0.43	4.72	4.72	0.59763	PDZ/DHR/GLGF (1);	0.062472	0.64402	D	0.000004	T	0.59878	0.2226	L	0.49455	1.56	0.47245	D	0.999364	P	0.45474	0.859	B	0.37833	0.259	T	0.62680	-0.6803	10	0.33141	T	0.24	-20.477	16.6471	0.85179	0.0:1.0:0.0:0.0	.	922	O60307	MAST3_HUMAN	S	922	ENSP00000262811:P922S	ENSP00000262811:P922S	P	+	1	0	MAST3	18116851	0.997000	0.39634	1.000000	0.80357	0.557000	0.35523	3.616000	0.54174	2.178000	0.69098	0.313000	0.20887	CCG	MAST3	-	superfamily_PDZ		0.687	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	C	XM_038150		18255851	+1	no_errors	ENST00000262811	ensembl	human	known	70_37	missense	SNP	1.000	T
MAST4	375449	genome.wustl.edu	37	5	65892659	65892659	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:65892659G>C	ENST00000403625.2	+	1	471	c.176G>C	c.(175-177)aGa>aCa	p.R59T	MAST4_ENST00000406374.1_Missense_Mutation_p.R59T|MAST4_ENST00000404260.3_Missense_Mutation_p.R59T|MAST4_ENST00000406039.1_Missense_Mutation_p.R59T	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	59						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGCTTCTCCAGAGAGCATCAG	0.746																																																	0													1.0	2.0	2.0					5																	65892659		1064	2717	3781	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.176G>C	5.37:g.65892659G>C	ENSP00000385727:p.Arg59Thr		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.R59T	ENST00000403625.2	37	c.176	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387916	0.25031	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039	T;T;T;T	0.62941	-0.01;-0.01;1.47;1.48	3.84	3.84	0.44239	.	0.941000	0.08577	U	0.925166	T	0.45236	0.1332	N	0.14661	0.345	0.09310	N	1	B;B	0.33238	0.403;0.275	B;B	0.30029	0.11;0.11	T	0.22208	-1.0223	10	0.27082	T	0.32	.	12.7508	0.57308	0.0:0.0:1.0:0.0	.	59;59	E7EX28;O15021-4	.;.	T	59	ENSP00000385048:R59T;ENSP00000385727:R59T;ENSP00000385088:R59T;ENSP00000384547:R59T	ENSP00000385727:R59T	R	+	2	0	MAST4	65928415	0.558000	0.26554	0.306000	0.25113	0.378000	0.30076	2.519000	0.45546	1.971000	0.57363	0.313000	0.20887	AGA	MAST4	-	NULL		0.746	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	G			65892659	+1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	0.219	C
MATK	4145	genome.wustl.edu	37	19	3779086	3779086	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:3779086C>G	ENST00000310132.6	-	12	1499	c.1101G>C	c.(1099-1101)aaG>aaC	p.K367N	MATK_ENST00000395045.2_Missense_Mutation_p.K368N|MATK_ENST00000395040.2_Missense_Mutation_p.K326N|MATK_ENST00000585778.1_Missense_Mutation_p.K367N	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	367	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCGCTGACCTTGGCCACCA	0.657																																																	0													30.0	32.0	31.0					19																	3779086		2203	4300	6503	SO:0001583	missense	4145			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1101G>C	19.37:g.3779086C>G	ENSP00000308734:p.Lys367Asn		B3KNZ9|Q9NST8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.K368N	ENST00000310132.6	37	c.1104	CCDS12114.1	19	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741501	0.69304	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.73152	-0.72;-0.72;-0.72	4.47	3.41	0.39046	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.121976	0.53938	D	0.000053	D	0.88987	0.6587	H	0.99011	4.4	0.53005	D	0.99996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90739	0.4648	10	0.87932	D	0	-39.9677	9.5153	0.39102	0.0:0.8347:0.0:0.1653	.	367;368;367	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	N	368;367;326	ENSP00000378485:K368N;ENSP00000308734:K367N;ENSP00000378481:K326N	ENSP00000308734:K367N	K	-	3	2	MATK	3730086	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.368000	0.34216	2.225000	0.72522	0.478000	0.44815	AAG	MATK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.657	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	HGNC	protein_coding	OTTHUMT00000453639.1	C	NM_139355		3779086	-1	no_errors	ENST00000395045	ensembl	human	known	70_37	missense	SNP	1.000	G
MBTD1	54799	genome.wustl.edu	37	17	49281254	49281254	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:49281254C>G	ENST00000586178.1	-	8	980	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q	MBTD1_ENST00000415868.1_Missense_Mutation_p.E213Q|MBTD1_ENST00000376381.2_Missense_Mutation_p.E213Q	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	213					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGTCATTTTCAAATCCTTCA	0.368																																																	0													158.0	161.0	160.0					17																	49281254		2203	4300	6503	SO:0001583	missense	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.637G>C	17.37:g.49281254C>G	ENSP00000468304:p.Glu213Gln		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.E213Q	ENST00000586178.1	37	c.637	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	c	18.38	3.610881	0.66558	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.48836	0.8;0.8	5.32	5.32	0.75619	.	0.138889	0.64402	D	0.000005	T	0.54565	0.1866	L	0.43152	1.355	0.47819	D	0.999523	D;B;P	0.54207	0.965;0.16;0.535	P;B;B	0.53490	0.727;0.086;0.381	T	0.46373	-0.9196	10	0.28530	T	0.3	.	19.1004	0.93272	0.0:1.0:0.0:0.0	.	213;213;49	Q05BQ5;Q05BQ5-2;Q05BQ5-3	MBTD1_HUMAN;.;.	Q	213	ENSP00000403946:E213Q;ENSP00000365561:E213Q	ENSP00000365561:E213Q	E	-	1	0	MBTD1	46636253	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.509000	0.84616	0.627000	0.83407	GAA	MBTD1	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.368	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	C			49281254	-1	no_errors	ENST00000415868	ensembl	human	known	70_37	missense	SNP	1.000	G
MFSD5	84975	genome.wustl.edu	37	12	53646785	53646785	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:53646785G>C	ENST00000329548.4	+	2	357	c.166G>C	c.(166-168)Gat>Cat	p.D56H	MFSD5_ENST00000534842.1_Missense_Mutation_p.D163H	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	56					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTGGCAGCTGATTGGCTTCA	0.527																																																	0													149.0	158.0	155.0					12																	53646785		2203	4300	6503	SO:0001583	missense	84975			AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.166G>C	12.37:g.53646785G>C	ENSP00000332624:p.Asp56His		G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.D163H	ENST00000329548.4	37	c.487	CCDS8851.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968091	0.74131	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	T;T	0.80824	-1.42;-1.42	4.3	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.90452	0.7010	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	D	0.92404	0.5932	10	0.87932	D	0	-7.6368	15.6853	0.77405	0.0:0.0:1.0:0.0	.	56;163	Q6N075;G3V1N7	MFSD5_HUMAN;.	H	163;163;163;56	ENSP00000442688:D163H;ENSP00000332624:D56H	ENSP00000331231:D163H	D	+	1	0	MFSD5	51933052	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.907000	0.92634	2.239000	0.73571	0.561000	0.74099	GAT	MFSD5	-	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.527	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD5	HGNC	protein_coding	OTTHUMT00000406896.1	G	NM_032889		53646785	+1	no_errors	ENST00000534842	ensembl	human	known	70_37	missense	SNP	1.000	C
MICB	4277	genome.wustl.edu	37	6	31474941	31474941	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:31474941G>A	ENST00000252229.6	+	4	835	c.756G>A	c.(754-756)caG>caA	p.Q252Q	MICB_ENST00000538442.1_Silent_p.Q220Q|MICB_ENST00000399150.3_Silent_p.Q209Q	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACACCCAGCAGTGGGGGGATG	0.572																																																	0													52.0	57.0	55.0					6																	31474941		1362	2609	3971	SO:0001819	synonymous_variant	4277				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.756G>A	6.37:g.31474941G>A				Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.Q252	ENST00000252229.6	37	c.756	CCDS43449.1	6																																																																																			MICB	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.572	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICB	HGNC	protein_coding	OTTHUMT00000076102.3	G	NM_005931		31474941	+1	no_errors	ENST00000252229	ensembl	human	known	70_37	silent	SNP	0.000	A
MIER2	54531	genome.wustl.edu	37	19	307174	307174	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:307174G>A	ENST00000264819.4	-	13	1571	c.1561C>T	c.(1561-1563)Ctg>Ttg	p.L521L	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TGGGCGGCCAGGAAGGGGTTC	0.677																																																	0													23.0	22.0	22.0					19																	307174		2182	4289	6471	SO:0001819	synonymous_variant	54531			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1561C>T	19.37:g.307174G>A			Q9ULM7	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.L521	ENST00000264819.4	37	c.1561	CCDS32855.1	19																																																																																			MIER2	-	NULL		0.677	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	G	XM_041843		307174	-1	no_errors	ENST00000264819	ensembl	human	known	70_37	silent	SNP	1.000	A
MIR205HG	642587	genome.wustl.edu	37	1	209605571	209605571	+	lincRNA	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:209605571G>A	ENST00000384891.1	+	0	94					NR_029622.1				MIR205 host gene (non-protein coding)																		TGAAGTTCAGGAGGCATGGAG	0.577																																																	0													88.0	72.0	77.0					1																	209605571		2203	4300	6503			642587					1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209605571G>A				RNA	SNP	-	NULL	ENST00000384891.1	37	NULL		1																																																																																			MIR205HG	-	-		0.577	MIR205HG-202	KNOWN	basic	miRNA	MIR205HG	HGNC	lincRNA		G			209605571	+1	no_errors	ENST00000366437	ensembl	human	known	70_37	rna	SNP	1.000	A
MIR205HG	642587	genome.wustl.edu	37	1	209605579	209605579	+	lincRNA	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:209605579G>A	ENST00000384891.1	+	0	102					NR_029622.1				MIR205 host gene (non-protein coding)																		AGGAGGCATGGAGCTGACAAC	0.582																																																	0													78.0	64.0	69.0					1																	209605579		2203	4300	6503			642587					1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209605579G>A				RNA	SNP	-	NULL	ENST00000384891.1	37	NULL		1																																																																																			MIR205HG	-	-		0.582	MIR205HG-202	KNOWN	basic	miRNA	MIR205HG	HGNC	lincRNA		G			209605579	+1	no_errors	ENST00000366437	ensembl	human	known	70_37	rna	SNP	1.000	A
MIR205HG	642587	genome.wustl.edu	37	1	209605721	209605721	+	lincRNA	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:209605721G>A	ENST00000384891.1	+	0	220					NR_029622.1				MIR205 host gene (non-protein coding)																		AGAGAAATGTGATCAATGAAG	0.527																																																	0													5.0	7.0	6.0					1																	209605721		1307	2291	3598			642587					1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209605721G>A				RNA	SNP	-	NULL	ENST00000384891.1	37	NULL		1																																																																																			MIR205HG	-	-		0.527	MIR205HG-202	KNOWN	basic	miRNA	MIR205HG	HGNC	lincRNA		G			209605721	+1	no_errors	ENST00000366437	ensembl	human	known	70_37	rna	SNP	0.006	A
KMT2A	4297	genome.wustl.edu	37	11	118352537	118352537	+	Missense_Mutation	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:118352537G>T	ENST00000389506.5	+	7	3742	c.3742G>T	c.(3742-3744)Gca>Tca	p.A1248S	KMT2A_ENST00000354520.4_Missense_Mutation_p.A1248S|KMT2A_ENST00000534358.1_Missense_Mutation_p.A1248S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1248					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TACCCCATCAGCAAGAGAGGA	0.498																																																	0													105.0	97.0	100.0					11																	118352537		2200	4296	6496	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3742G>T	11.37:g.118352537G>T	ENSP00000374157:p.Ala1248Ser		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.A1248S	ENST00000389506.5	37	c.3742	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317518	0.23908	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313	D;T;D;T	0.81659	-1.52;1.03;-1.52;-1.46	5.67	2.79	0.32731	.	0.552967	0.19352	N	0.116368	T	0.69486	0.3116	L	0.36672	1.1	0.21290	N	0.999734	B;B	0.24258	0.1;0.1	B;B	0.21708	0.036;0.036	T	0.56323	-0.7998	10	0.35671	T	0.21	.	8.8551	0.35223	0.1385:0.2812:0.5802:0.0	.	1248;1248	E9PQG7;Q03164	.;MLL1_HUMAN	S	1248;1281;1248;1248;158	ENSP00000436786:A1248S;ENSP00000432391:A1281S;ENSP00000374157:A1248S;ENSP00000346516:A1248S	ENSP00000346516:A1248S	A	+	1	0	MLL	117857747	0.863000	0.29885	0.151000	0.22473	0.894000	0.52154	0.218000	0.17622	0.333000	0.23563	-0.253000	0.11424	GCA	MLL	-	pirsf_MeTrfase_trithorax		0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	G	NM_005933		118352537	+1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	0.942	T
KMT2D	8085	genome.wustl.edu	37	12	49420619	49420619	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:49420619C>T	ENST00000301067.7	-	48	15129	c.15130G>A	c.(15130-15132)Gat>Aat	p.D5044N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5044					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCAGGCCCATCAGTGGCCCCG	0.612																																																	0													64.0	70.0	68.0					12																	49420619		2135	4224	6359	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15130G>A	12.37:g.49420619C>T	ENSP00000301067:p.Asp5044Asn		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D5044N	ENST00000301067.7	37	c.15130	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034481	0.54896	.	.	ENSG00000167548	ENST00000301067	T	0.80304	-1.36	4.86	4.86	0.63082	.	0.000000	0.39834	N	0.001248	D	0.89051	0.6605	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90352	0.4367	10	0.87932	D	0	.	17.1536	0.86784	0.0:1.0:0.0:0.0	.	5044	O14686	MLL2_HUMAN	N	5044	ENSP00000301067:D5044N	ENSP00000301067:D5044N	D	-	1	0	MLL2	47706886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.775000	0.85489	2.425000	0.82216	0.655000	0.94253	GAT	MLL2	-	NULL		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49420619	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	T
KMT2D	8085	genome.wustl.edu	37	12	49420832	49420832	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:49420832C>G	ENST00000301067.7	-	48	14916	c.14917G>C	c.(14917-14919)Gat>Cat	p.D4973H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4973	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGACGGGAATCTTCACCTTCT	0.642																																																	0													65.0	71.0	69.0					12																	49420832		1965	4145	6110	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14917G>C	12.37:g.49420832C>G	ENSP00000301067:p.Asp4973His		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D4973H	ENST00000301067.7	37	c.14917	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	9.099	1.003585	0.19121	.	.	ENSG00000167548	ENST00000301067	T	0.79940	-1.32	3.89	3.89	0.44902	.	0.000000	0.36002	N	0.002847	T	0.75421	0.3847	N	0.12182	0.205	0.28784	N	0.899666	D	0.56521	0.976	P	0.53809	0.735	T	0.74315	-0.3705	10	0.87932	D	0	.	15.1821	0.72968	0.0:1.0:0.0:0.0	.	4973	O14686	MLL2_HUMAN	H	4973	ENSP00000301067:D4973H	ENSP00000301067:D4973H	D	-	1	0	MLL2	47707099	.	.	1.000000	0.80357	0.942000	0.58702	.	.	2.181000	0.69327	0.563000	0.77884	GAT	MLL2	-	NULL		0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49420832	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	G
KMT2D	8085	genome.wustl.edu	37	12	49424551	49424551	+	Splice_Site	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:49424551C>G	ENST00000301067.7	-	41	13671	c.13672G>C	c.(13672-13674)Gag>Cag	p.E4558Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4558					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGGACAGCTCCTACAAGGGG	0.587																																																	0													44.0	47.0	46.0					12																	49424551		1920	4136	6056	SO:0001630	splice_region_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13672-1G>C	12.37:g.49424551C>G			O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E4558Q	ENST00000301067.7	37	c.13672	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331739	0.24167	.	.	ENSG00000167548	ENST00000301067	T	0.77877	-1.13	5.19	5.19	0.71726	.	0.000000	0.38959	N	0.001510	T	0.55545	0.1927	N	0.01168	-0.975	0.45648	D	0.998572	B	0.30824	0.296	B	0.29942	0.109	T	0.64960	-0.6284	10	0.87932	D	0	.	17.86	0.88778	0.0:1.0:0.0:0.0	.	4558	O14686	MLL2_HUMAN	Q	4558	ENSP00000301067:E4558Q	ENSP00000301067:E4558Q	E	-	1	0	MLL2	47710818	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.633000	0.46519	2.610000	0.88304	0.561000	0.74099	GAG	MLL2	-	NULL		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C		Missense_Mutation	49424551	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	G
KMT2D	8085	genome.wustl.edu	37	12	49425059	49425059	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:49425059C>T	ENST00000301067.7	-	39	13428	c.13429G>A	c.(13429-13431)Ggg>Agg	p.G4477R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4477					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GACCCCCGCCCAGTGCTGAGT	0.607																																																	0													71.0	76.0	75.0					12																	49425059		2045	4197	6242	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13429G>A	12.37:g.49425059C>T	ENSP00000301067:p.Gly4477Arg		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.G4477R	ENST00000301067.7	37	c.13429	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725527	0.30593	.	.	ENSG00000167548	ENST00000301067	T	0.78707	-1.2	5.57	5.57	0.84162	.	0.000000	0.39210	N	0.001425	T	0.69433	0.3110	N	0.14661	0.345	0.35844	D	0.826263	D	0.60575	0.988	P	0.48840	0.592	T	0.78735	-0.2088	10	0.87932	D	0	.	13.5075	0.61491	0.0:0.7381:0.2619:0.0	.	4477	O14686	MLL2_HUMAN	R	4477	ENSP00000301067:G4477R	ENSP00000301067:G4477R	G	-	1	0	MLL2	47711326	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.673000	0.61604	2.793000	0.96121	0.655000	0.94253	GGG	MLL2	-	NULL		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49425059	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151877100	151877100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:151877100G>A	ENST00000262189.6	-	37	7479	c.7261C>T	c.(7261-7263)Caa>Taa	p.Q2421*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2421*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2421	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGCCAGTGTTGAAGAGGCCCT	0.542																																																	0													234.0	198.0	211.0					7																	151877100		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7261C>T	7.37:g.151877100G>A	ENSP00000262189:p.Gln2421*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2421*	ENST00000262189.6	37	c.7261	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	49	15.501213	0.99836	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.5	5.5	0.81552	.	0.527792	0.15522	N	0.258017	.	.	.	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2563	0.66053	0.0:0.0:0.8511:0.1489	.	.	.	.	X	2421	.	ENSP00000262189:Q2421X	Q	-	1	0	MLL3	151508033	1.000000	0.71417	0.970000	0.41538	0.944000	0.59088	5.096000	0.64535	2.578000	0.87016	0.650000	0.86243	CAA	MLL3	-	NULL		0.542	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151877100	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	0.530	A
MMRN2	79812	genome.wustl.edu	37	10	88703291	88703291	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:88703291G>A	ENST00000372027.5	-	6	1571	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	417					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GTCCGATTCGGAGTACAGTTC	0.612																																																	0													148.0	108.0	122.0					10																	88703291		2203	4300	6503	SO:0001583	missense	79812			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1250C>T	10.37:g.88703291G>A	ENSP00000361097:p.Ser417Phe		Q504V7|Q6P2N2	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like,superfamily_tRNA-bd_arm,smart_C1q,pfscan_C1q,pfscan_EMI_domain,prints_C1q	p.S417F	ENST00000372027.5	37	c.1250	CCDS7379.1	10	.	.	.	.	.	.	.	.	.	.	G	4.338	0.062167	0.08388	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.71461	-0.57	4.96	1.56	0.23342	.	0.750232	0.12223	N	0.488164	T	0.60663	0.2286	L	0.56769	1.78	0.09310	N	1	P;P;P	0.35272	0.493;0.493;0.493	B;B;B	0.32928	0.074;0.155;0.107	T	0.54702	-0.8254	10	0.56958	D	0.05	-7.6511	4.2957	0.10901	0.3447:0.0:0.4954:0.1598	.	195;356;417	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	F	417;195	ENSP00000361097:S417F	ENSP00000361097:S417F	S	-	2	0	MMRN2	88693271	0.006000	0.16342	0.112000	0.21494	0.691000	0.40173	0.500000	0.22562	0.496000	0.27904	0.462000	0.41574	TCC	MMRN2	-	NULL		0.612	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	HGNC	protein_coding	OTTHUMT00000049179.2	G	NM_024756		88703291	-1	no_errors	ENST00000372027	ensembl	human	known	70_37	missense	SNP	0.002	A
MMS22L	253714	genome.wustl.edu	37	6	97711270	97711270	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:97711270C>A	ENST00000275053.4	-	9	1148	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	MMS22L_ENST00000369251.2_Nonsense_Mutation_p.E295*|MMS22L_ENST00000506256.1_5'UTR	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	295					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACCCATAATTCTTTAATGCAT	0.333																																																	0													137.0	142.0	140.0					6																	97711270		2203	4297	6500	SO:0001587	stop_gained	253714				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.883G>T	6.37:g.97711270C>A	ENSP00000275053:p.Glu295*		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E295*	ENST00000275053.4	37	c.883	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	41	8.824790	0.98968	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.2908	19.7501	0.96265	0.0:1.0:0.0:0.0	.	.	.	.	X	295	.	ENSP00000275053:E295X	E	-	1	0	MMS22L	97817991	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.512000	0.73737	2.667000	0.90743	0.491000	0.48974	GAA	MMS22L	-	NULL		0.333	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	C	NM_198468		97711270	-1	no_errors	ENST00000275053	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MN1	4330	genome.wustl.edu	37	22	28147025	28147025	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:28147025G>C	ENST00000302326.4	-	2	4795	c.3841C>G	c.(3841-3843)Ctg>Gtg	p.L1281V	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1281					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGGACAGACAGGCACTGCAAG	0.602			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0													62.0	70.0	67.0					22																	28147025		2105	4225	6330	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3841C>G	22.37:g.28147025G>C	ENSP00000304956:p.Leu1281Val		A9Z1V9	Missense_Mutation	SNP	NULL	p.L1281V	ENST00000302326.4	37	c.3841	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327619	0.81690	.	.	ENSG00000169184	ENST00000302326	T	0.47869	0.83	4.07	4.07	0.47477	.	0.104021	0.38959	N	0.001513	T	0.54078	0.1836	N	0.19112	0.55	0.48511	D	0.999665	D	0.67145	0.996	D	0.80764	0.994	T	0.62431	-0.6856	10	0.87932	D	0	-21.5226	16.1297	0.81418	0.0:0.0:1.0:0.0	.	1281	Q10571	MN1_HUMAN	V	1281	ENSP00000304956:L1281V	ENSP00000304956:L1281V	L	-	1	2	MN1	26477025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.218000	0.77991	2.187000	0.69744	0.561000	0.74099	CTG	MN1	-	NULL		0.602	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	G	NM_002430		28147025	-1	no_errors	ENST00000302326	ensembl	human	known	70_37	missense	SNP	1.000	C
MOB2	81532	genome.wustl.edu	37	11	1492613	1492613	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:1492613G>A	ENST00000329957.6	-	4	591	c.402C>T	c.(400-402)gtC>gtT	p.V134V	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	103					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						CCGTGCACTTGACCTTCTTCC	0.602																																																	0													113.0	129.0	124.0					11																	1492613		2166	4248	6414	SO:0001819	synonymous_variant	81532				CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.402C>T	11.37:g.1492613G>A			B4DKP3|Q96M67	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.V134	ENST00000329957.6	37	c.402	CCDS53591.1	11																																																																																			MOB2	-	pfam_Mob1_phocein,superfamily_Mob1_phocein		0.602	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MOB2	HGNC	protein_coding	OTTHUMT00000384770.1	G	NM_053005		1492613	-1	no_errors	ENST00000329957	ensembl	human	novel	70_37	silent	SNP	0.998	A
MOCS1	4337	genome.wustl.edu	37	6	39895145	39895145	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:39895145G>A	ENST00000340692.5	-	2	176	c.173C>T	c.(172-174)tCc>tTc	p.S58F	MOCS1_ENST00000308559.7_Missense_Mutation_p.S58F|MOCS1_ENST00000373186.4_Missense_Mutation_p.S58F|MOCS1_ENST00000373175.4_Missense_Mutation_p.S29F|MOCS1_ENST00000432280.2_Missense_Mutation_p.S29F|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000373188.2_Missense_Mutation_p.S58F|MOCS1_ENST00000425303.2_Missense_Mutation_p.S58F			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	58	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAGGAAGGCGGAGAAGGGGGC	0.652																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													30.0	31.0	31.0					6																	39895145		2203	4299	6502	SO:0001583	missense	4337			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.173C>T	6.37:g.39895145G>A	ENSP00000344794:p.Ser58Phe		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.S58F	ENST00000340692.5	37	c.173		6	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668156	0.88348	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000340692;ENST00000425303;ENST00000432280	T;T;T	0.34859	1.34;1.35;1.35	5.44	5.44	0.79542	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.79784	0.993;0.976;0.987;0.986	T	0.10706	-1.0618	9	.	.	.	-23.7002	19.2062	0.93730	0.0:0.0:1.0:0.0	.	58;58;58;58	Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;MOCS1_HUMAN;.;.	F	58;58;29;58;58;58;29	ENSP00000309843:S58F;ENSP00000344794:S58F;ENSP00000416478:S58F	.	S	-	2	0	MOCS1	40003123	1.000000	0.71417	0.969000	0.41365	0.632000	0.37999	8.594000	0.90836	2.703000	0.92315	0.591000	0.81541	TCC	MOCS1	-	NULL		0.652	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	G	NM_005943		39895145	-1	no_errors	ENST00000340692	ensembl	human	known	70_37	missense	SNP	1.000	A
MTOR	2475	genome.wustl.edu	37	1	11188178	11188178	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:11188178G>A	ENST00000361445.4	-	43	5992	c.5916C>T	c.(5914-5916)ctC>ctT	p.L1972L	MTOR_ENST00000376838.1_Silent_p.L177L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1972	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GTGGGTAGATGAGGGCCTGAG	0.463																																																	0													106.0	111.0	110.0					1																	11188178		2203	4300	6503	SO:0001819	synonymous_variant	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5916C>T	1.37:g.11188178G>A			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L1972	ENST00000361445.4	37	c.5916	CCDS127.1	1																																																																																			MTOR	-	pfscan_PIK_FAT		0.463	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	G	NM_004958		11188178	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	silent	SNP	1.000	A
MTR	4548	genome.wustl.edu	37	1	237013777	237013777	+	Missense_Mutation	SNP	A	A	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:237013777A>C	ENST00000366577.5	+	16	2043	c.1649A>C	c.(1648-1650)cAc>cCc	p.H550P	MTR_ENST00000535889.1_Missense_Mutation_p.H550P	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	550	Pterin-binding. {ECO:0000255|PROSITE- ProRule:PRU00334}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ATGGAGGAACACAACTTGTAT	0.408																																																	0													139.0	123.0	129.0					1																	237013777		2203	4300	6503	SO:0001583	missense	4548			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1649A>C	1.37:g.237013777A>C	ENSP00000355536:p.His550Pro		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.H550P	ENST00000366577.5	37	c.1649	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509404	0.64522	.	.	ENSG00000116984	ENST00000366577;ENST00000535889;ENST00000366576	D;D;D	0.84589	-1.87;-1.87;-1.87	4.87	4.87	0.63330	Dihydropteroate synthase-like (1);Pterin-binding (3);	0.000000	0.85682	D	0.000000	D	0.94676	0.8283	H	0.96430	3.82	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96251	0.9183	10	0.87932	D	0	-18.4873	14.6471	0.68769	1.0:0.0:0.0:0.0	.	550;550	B7ZLW7;Q99707	.;METH_HUMAN	P	550;550;104	ENSP00000355536:H550P;ENSP00000441845:H550P;ENSP00000355535:H104P	ENSP00000355535:H104P	H	+	2	0	MTR	235080400	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	8.865000	0.92300	2.026000	0.59711	0.533000	0.62120	CAC	MTR	-	pfam_Pterin-binding,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH		0.408	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	A	NM_000254		237013777	+1	no_errors	ENST00000366577	ensembl	human	known	70_37	missense	SNP	1.000	C
MUC16	94025	genome.wustl.edu	37	19	9075567	9075567	+	Missense_Mutation	SNP	G	G	C	rs182640895		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:9075567G>C	ENST00000397910.4	-	3	12082	c.11879C>G	c.(11878-11880)tCc>tGc	p.S3960C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3962	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCATGTTCGGAACTTGTGAC	0.493																																																	0													75.0	73.0	74.0					19																	9075567		2062	4193	6255	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11879C>G	19.37:g.9075567G>C	ENSP00000381008:p.Ser3960Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S3960C	ENST00000397910.4	37	c.11879	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.383	-0.341711	0.05243	.	.	ENSG00000181143	ENST00000397910	T	0.32023	1.47	2.08	0.973	0.19710	.	.	.	.	.	T	0.43144	0.1234	L	0.50333	1.59	.	.	.	D	0.89917	1.0	D	0.83275	0.996	T	0.51482	-0.8700	8	0.87932	D	0	.	5.7	0.17877	0.0:0.0:0.6803:0.3197	.	3960	B5ME49	.	C	3960	ENSP00000381008:S3960C	ENSP00000381008:S3960C	S	-	2	0	MUC16	8936567	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.148000	0.16224	0.406000	0.25560	0.313000	0.20887	TCC	MUC16	-	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9075567	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.002	C
MUC16	94025	genome.wustl.edu	37	19	9090942	9090942	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:9090942G>A	ENST00000397910.4	-	1	1076	c.873C>T	c.(871-873)ctC>ctT	p.L291L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	291	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTTATTATCGAGAACTGAAG	0.517																																																	0													128.0	127.0	128.0					19																	9090942		1978	4177	6155	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.873C>T	19.37:g.9090942G>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L291	ENST00000397910.4	37	c.873	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9090942	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.000	A
MUC20P1	651714	genome.wustl.edu	37	3	195346312	195346312	+	IGR	SNP	C	C	T	rs369994739		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:195346312C>T								APOD (35236 upstream) : RP11-141C7.4 (20548 downstream)																							TCCGACGGCCCCCATCCAGTC	0.622																																																	0																																										SO:0001628	intergenic_variant	200958																															3.37:g.195346312C>T				Missense_Mutation	SNP	NULL	p.P205L		37	c.614		3	.	.	.	.	.	.	.	.	.	.	.	9.559	1.117882	0.20877	.	.	ENSG00000176945	ENST00000381954	.	.	.	.	.	.	.	.	.	.	.	T	0.35595	0.0937	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.31971	-0.9924	3	0.46703	T	0.11	.	.	.	.	.	.	.	.	L	205	.	ENSP00000371380:P205L	P	+	2	0	MUC20	196827601	0.000000	0.05858	0.122000	0.21767	0.237000	0.25408	-0.301000	0.08232	0.149000	0.19098	0.152000	0.16155	CCC	MUC20	-	NULL	0	0.622					MUC20	HGNC			C			195346312	+1	no_errors	ENST00000381954	ensembl	human	known	70_37	missense	SNP	0.132	T
MXRA7	439921	genome.wustl.edu	37	17	74673769	74673769	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:74673769C>T	ENST00000355797.3	-	4	524	c.516G>A	c.(514-516)caG>caA	p.Q172Q		NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	172						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TGGCAGCCAGCTGTTCCTTCT	0.567																																																	0													116.0	102.0	107.0					17																	74673769		2203	4300	6503	SO:0001819	synonymous_variant	439921			BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534			7541	protein-coding gene	gene with protein product							Standard	XM_005257382		Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.516G>A	17.37:g.74673769C>T			Q0P5W3	Silent	SNP	NULL	p.Q172	ENST00000355797.3	37	c.516	CCDS32745.1	17																																																																																			MXRA7	-	NULL		0.567	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MXRA7	HGNC	protein_coding	OTTHUMT00000450983.1	C	NM_001008529		74673769	-1	no_errors	ENST00000355797	ensembl	human	known	70_37	silent	SNP	1.000	T
MYH15	22989	genome.wustl.edu	37	3	108156543	108156543	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:108156543C>T	ENST00000273353.3	-	26	3195	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1047						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGGCACCCTCAAGCTGACAA	0.393																																																	0													137.0	132.0	134.0					3																	108156543		1871	4113	5984	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3139G>A	3.37:g.108156543C>T	ENSP00000273353:p.Glu1047Lys			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E1047K	ENST00000273353.3	37	c.3139	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025404	0.93518	.	.	ENSG00000144821	ENST00000273353	D	0.99245	-5.62	5.34	4.45	0.53987	.	.	.	.	.	D	0.99471	0.9812	M	0.91354	3.2	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	D	0.98158	1.0445	9	0.87932	D	0	.	14.9106	0.70755	0.0:0.9275:0.0:0.0725	.	1047	Q9Y2K3	MYH15_HUMAN	K	1047	ENSP00000273353:E1047K	ENSP00000273353:E1047K	E	-	1	0	MYH15	109639233	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.917000	0.56424	2.664000	0.90586	0.655000	0.94253	GAG	MYH15	-	NULL		0.393	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	C	XM_036988		108156543	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH8	4626	genome.wustl.edu	37	17	10300225	10300225	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:10300225C>T	ENST00000403437.2	-	31	4351	c.4257G>A	c.(4255-4257)aaG>aaA	p.K1419K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1419					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						GCTGCTTCGTCTTCTCAAGGG	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													98.0	91.0	94.0					17																	10300225		2203	4300	6503	SO:0001819	synonymous_variant	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.4257G>A	17.37:g.10300225C>T			Q14910	Silent	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.K1419	ENST00000403437.2	37	c.4257	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_tail,superfamily_Prefoldin		0.493	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	C	NM_002472		10300225	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	silent	SNP	1.000	T
MYO5A	4644	genome.wustl.edu	37	15	52645825	52645825	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:52645825C>T	ENST00000399231.3	-	27	3841	c.3598G>A	c.(3598-3600)Gaa>Aaa	p.E1200K	MYO5A_ENST00000358212.6_Missense_Mutation_p.E1200K|MYO5A_ENST00000356338.6_Missense_Mutation_p.E1200K|MYO5A_ENST00000553916.1_Missense_Mutation_p.E1200K|MYO5A_ENST00000399233.2_Missense_Mutation_p.E1200K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1200					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TATTCCAGTTCTGCACCTCTA	0.353																																																	0													113.0	108.0	110.0					15																	52645825		1812	4079	5891	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3598G>A	15.37:g.52645825C>T	ENSP00000382177:p.Glu1200Lys		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1200K	ENST00000399231.3	37	c.3598	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.620789	0.96660	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.92	5.92	0.95590	.	0.095252	0.64402	D	0.000001	T	0.41003	0.1140	L	0.40543	1.245	0.80722	D	1	B;D	0.71674	0.129;0.998	B;D	0.80764	0.046;0.994	T	0.02477	-1.1153	10	0.45353	T	0.12	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	1200;1200	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	K	1200;734;1200;1200;1200;830;1200	ENSP00000382177:E1200K;ENSP00000382179:E1200K;ENSP00000348693:E1200K;ENSP00000350945:E1200K;ENSP00000451109:E1200K	ENSP00000348693:E1200K	E	-	1	0	MYO5A	50433117	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.944000	0.75940	2.809000	0.96659	0.655000	0.94253	GAA	MYO5A	-	NULL		0.353	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	C	NM_000259		52645825	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	missense	SNP	1.000	T
N4BP2L1	90634	genome.wustl.edu	37	13	32981467	32981467	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:32981467C>T	ENST00000380133.2	-	3	366	c.316G>A	c.(316-318)Gca>Aca	p.A106T	N4BP2L1_ENST00000530622.2_5'UTR|N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.A106T|N4BP2L1_ENST00000380130.2_Missense_Mutation_p.A106T			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	106										large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TTCCTCATTGCTTTTCTTGCT	0.408																																																	0													164.0	144.0	151.0					13																	32981467		2203	4300	6503	SO:0001583	missense	90634			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.316G>A	13.37:g.32981467C>T	ENSP00000369476:p.Ala106Thr		A4QN21|Q5TBK0	Missense_Mutation	SNP	pfam_Zeta_toxin_domain	p.A106T	ENST00000380133.2	37	c.316	CCDS9345.2	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.691081|4.691081	0.88735|0.88735	.|.	.|.	ENSG00000139597|ENSG00000139597	ENST00000380130;ENST00000380139;ENST00000380133|ENST00000343281	T;T;T|.	0.48836|.	0.8;0.8;0.8|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Zeta toxin domain (1);|.	0.191535|.	0.35936|.	N|.	0.002897|.	T|T	0.58666|0.58666	0.2138|0.2138	L|L	0.28740|0.28740	0.885|0.885	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.996;1.0|.	D;D|.	0.91635|.	0.922;0.999|.	T|T	0.53215|0.53215	-0.8470|-0.8470	10|5	0.72032|.	D|.	0.01|.	.|.	19.0643|19.0643	0.93104|0.93104	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106;106|.	Q5TBK1-2;Q5TBK1|.	.;N42L1_HUMAN|.	T|N	106|83	ENSP00000369473:A106T;ENSP00000369484:A106T;ENSP00000369476:A106T|.	ENSP00000369473:A106T|.	A|S	-|-	1|2	0|0	N4BP2L1|N4BP2L1	31879467|31879467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.259000|6.259000	0.72494|0.72494	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GCA|AGC	N4BP2L1	-	pfam_Zeta_toxin_domain		0.408	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	N4BP2L1	HGNC	protein_coding	OTTHUMT00000044412.2	C	NM_052818		32981467	-1	no_errors	ENST00000380130	ensembl	human	known	70_37	missense	SNP	1.000	T
N4BP2L1	90634	genome.wustl.edu	37	13	32981472	32981472	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:32981472C>G	ENST00000380133.2	-	3	361	c.311G>C	c.(310-312)aGa>aCa	p.R104T	N4BP2L1_ENST00000530622.2_5'UTR|N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.R104T|N4BP2L1_ENST00000380130.2_Missense_Mutation_p.R104T			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	104										large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CATTGCTTTTCTTGCTGCAAC	0.418																																																	0													158.0	139.0	145.0					13																	32981472		2203	4300	6503	SO:0001583	missense	90634			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.311G>C	13.37:g.32981472C>G	ENSP00000369476:p.Arg104Thr		A4QN21|Q5TBK0	Missense_Mutation	SNP	pfam_Zeta_toxin_domain	p.R104T	ENST00000380133.2	37	c.311	CCDS9345.2	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.71|19.71	3.877632|3.877632	0.72294|0.72294	.|.	.|.	ENSG00000139597|ENSG00000139597	ENST00000343281|ENST00000380130;ENST00000380139;ENST00000380133	.|T;T;T	.|0.42513	.|0.97;0.97;0.97	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Zeta toxin domain (1);	.|0.091515	.|0.41194	.|D	.|0.000927	T|T	0.58264|0.58264	0.2110|0.2110	L|L	0.39467|0.39467	1.215|1.215	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.866;1.0	.|P;D	.|0.87578	.|0.503;0.998	T|T	0.58070|0.58070	-0.7701|-0.7701	5|10	.|0.52906	.|T	.|0.07	.|.	19.0643|19.0643	0.93104|0.93104	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|104;104	.|Q5TBK1-2;Q5TBK1	.|.;N42L1_HUMAN	N|T	81|104	.|ENSP00000369473:R104T;ENSP00000369484:R104T;ENSP00000369476:R104T	.|ENSP00000369473:R104T	K|R	-|-	3|2	2|0	N4BP2L1|N4BP2L1	31879472|31879472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.604000|3.604000	0.54081|0.54081	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	AAG|AGA	N4BP2L1	-	pfam_Zeta_toxin_domain		0.418	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	N4BP2L1	HGNC	protein_coding	OTTHUMT00000044412.2	C	NM_052818		32981472	-1	no_errors	ENST00000380130	ensembl	human	known	70_37	missense	SNP	1.000	G
N4BP2L1	90634	genome.wustl.edu	37	13	32981746	32981746	+	Intron	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:32981746C>T	ENST00000380133.2	-	2	358				N4BP2L1_ENST00000530622.2_Intron|N4BP2L1_ENST00000459716.1_Intron|N4BP2L1_ENST00000380139.4_Intron|N4BP2L1_ENST00000380130.2_Intron			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		ATGTGCACATCAGGGTTTCCC	0.428																																																	0													48.0	47.0	47.0					13																	32981746		1864	4097	5961	SO:0001627	intron_variant	90634			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.307+35G>A	13.37:g.32981746C>T			A4QN21|Q5TBK0	RNA	SNP	-	NULL	ENST00000380133.2	37	NULL	CCDS9345.2	13																																																																																			N4BP2L1	-	-		0.428	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	N4BP2L1	HGNC	protein_coding	OTTHUMT00000044412.2	C	NM_052818		32981746	-1	no_errors	ENST00000472298	ensembl	human	known	70_37	rna	SNP	0.000	T
NARF	26502	genome.wustl.edu	37	17	80445795	80445795	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:80445795G>A	ENST00000309794.11	+	11	1331	c.1133G>A	c.(1132-1134)tGc>tAc	p.C378Y	NARF_ENST00000457415.3_Missense_Mutation_p.C424Y|NARF_ENST00000345415.7_Missense_Mutation_p.C330Y|NARF_ENST00000390006.4_Missense_Mutation_p.C319Y	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	378						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTTTCAGGATGCTTAAATGGC	0.537																																																	0													57.0	56.0	56.0					17																	80445795		2203	4300	6503	SO:0001583	missense	26502			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1133G>A	17.37:g.80445795G>A	ENSP00000309899:p.Cys378Tyr		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.C378Y	ENST00000309794.11	37	c.1133	CCDS32777.1	17	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449074	0.43531	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	D;D;D	0.94758	-3.51;-3.51;-3.51	5.58	5.58	0.84498	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	H	0.97103	3.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99497	1.0952	10	0.87932	D	0	-16.5114	18.5542	0.91077	0.0:0.0:1.0:0.0	.	424;330;425;378	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	Y	319;425;378;330	ENSP00000374656:C319Y;ENSP00000309899:C378Y;ENSP00000283996:C330Y	ENSP00000309899:C378Y	C	+	2	0	NARF	78039084	1.000000	0.71417	0.268000	0.24571	0.968000	0.65278	7.244000	0.78228	2.625000	0.88918	0.650000	0.86243	TGC	NARF	-	pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase		0.537	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARF	HGNC	protein_coding	OTTHUMT00000443573.2	G	NM_031968		80445795	+1	no_errors	ENST00000309794	ensembl	human	known	70_37	missense	SNP	0.996	A
NBPF10	100132406	genome.wustl.edu	37	1	145293069	145293069	+	Intron	SNP	A	A	T	rs4500262		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:145293069A>T	ENST00000468030.1	+	5	970				NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_5'Flank|NBPF10_ENST00000342960.5_5'Flank																							AGCTCCTAAGATTCCATGACA	0.507																																																	0																																										SO:0001627	intron_variant	100132406																														ENST00000468030.1:c.635-45A>T	1.37:g.145293069A>T				RNA	SNP	-	NULL	ENST00000468030.1	37	NULL		1																																																																																			NBPF10	-	-		0.507	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NBPF10	HGNC	protein_coding	OTTHUMT00000038553.9	A			145293069	+1	no_errors	ENST00000464433	ensembl	human	known	70_37	rna	SNP	0.004	T
NCAM1	4684	genome.wustl.edu	37	11	113148183	113148183	+	3'UTR	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:113148183G>A	ENST00000397957.4	+	0	4862				NCAM1_ENST00000316851.7_3'UTR|RP11-839D17.3_ENST00000533504.1_RNA|RP11-839D17.3_ENST00000529416.1_RNA|RP11-839D17.3_ENST00000526487.1_RNA			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGAGGAACATGAAGAGAGATC	0.552																																																	0																																										SO:0001624	3_prime_UTR_variant	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000397957.4:c.*4859G>A	11.37:g.113148183G>A			A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	RNA	SNP	-	NULL	ENST00000397957.4	37	NULL		11																																																																																			NCAM1	-	-		0.552	NCAM1-001	KNOWN	basic	processed_transcript	NCAM1	HGNC	protein_coding	OTTHUMT00000393677.2	G	NM_000615		113148183	+1	no_errors	ENST00000397957	ensembl	human	known	70_37	rna	SNP	0.000	A
NCAN	1463	genome.wustl.edu	37	19	19338264	19338264	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:19338264C>T	ENST00000252575.6	+	8	1934	c.1835C>T	c.(1834-1836)tCa>tTa	p.S612L	NCAN_ENST00000538881.1_Missense_Mutation_p.S63L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	612					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCCACTGTCTCAGCTCCCAGC	0.647																																																	0													43.0	44.0	43.0					19																	19338264		2203	4300	6503	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1835C>T	19.37:g.19338264C>T	ENSP00000252575:p.Ser612Leu		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,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,prints_AntifreezeII	p.S612L	ENST00000252575.6	37	c.1835	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117895	0.20877	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.86030	-1.87;-2.06	4.1	-7.77	0.01227	.	9.247330	0.00357	N	0.000023	T	0.60301	0.2258	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53878	-0.8376	10	0.25751	T	0.34	.	0.6127	0.00764	0.2479:0.2807:0.1239:0.3475	.	626;612	Q4LE67;O14594	.;NCAN_HUMAN	L	626;612;63	ENSP00000252575:S612L;ENSP00000442202:S63L	ENSP00000252575:S612L	S	+	2	0	NCAN	19199264	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.761000	0.04751	-1.065000	0.03168	-0.258000	0.10820	TCA	NCAN	-	NULL		0.647	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	C	NM_004386		19338264	+1	no_errors	ENST00000252575	ensembl	human	known	70_37	missense	SNP	0.000	T
NDUFV1	4723	genome.wustl.edu	37	11	67376092	67376092	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:67376092G>A	ENST00000322776.6	+	3	378	c.225G>A	c.(223-225)tgG>tgA	p.W75*	C11orf72_ENST00000446232.1_5'Flank|NDUFV1_ENST00000415352.2_Nonsense_Mutation_p.W68*|C11orf72_ENST00000333139.3_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000532303.1_5'UTR|NDUFV1_ENST00000529927.1_Nonsense_Mutation_p.W66*	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	75					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GGCCCGACTGGATCCTGGGCG	0.572																																																	0													129.0	141.0	136.0					11																	67376092		2200	4295	6495	SO:0001587	stop_gained	4723			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.225G>A	11.37:g.67376092G>A	ENSP00000322450:p.Trp75*		O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Nonsense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF	p.W75*	ENST00000322776.6	37	c.225	CCDS8173.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.117104	0.94385	.	.	ENSG00000167792	ENST00000322776;ENST00000528328;ENST00000529927;ENST00000415352;ENST00000533075;ENST00000529867;ENST00000453836;ENST00000530638	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0787	14.9788	0.71296	0.0:0.0:1.0:0.0	.	.	.	.	X	75;58;66;68;68;63;75;36	.	ENSP00000322450:W75X	W	+	3	0	NDUFV1	67132668	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.367000	0.97148	2.393000	0.81446	0.643000	0.83706	TGG	NDUFV1	-	tigrfam_NADH-UbQ_OxRdtase_suF		0.572	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NDUFV1	HGNC	protein_coding	OTTHUMT00000388406.1	G	NM_007103		67376092	+1	no_errors	ENST00000322776	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152547324	152547324	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:152547324G>A	ENST00000172853.10	-	24	2374	c.2227C>T	c.(2227-2229)Cat>Tat	p.H743Y	NEB_ENST00000603639.1_Missense_Mutation_p.H743Y|NEB_ENST00000604864.1_Missense_Mutation_p.H743Y|NEB_ENST00000397345.3_Missense_Mutation_p.H743Y|NEB_ENST00000409198.1_Missense_Mutation_p.H743Y|NEB_ENST00000427231.2_Missense_Mutation_p.H743Y			P20929	NEBU_HUMAN	nebulin	743					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTATCTGGATGAACTTTGTAG	0.368																																																	0													111.0	106.0	108.0					2																	152547324		1912	4121	6033	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2227C>T	2.37:g.152547324G>A	ENSP00000172853:p.His743Tyr		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.H743Y	ENST00000172853.10	37	c.2227		2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974292	0.74246	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.06608	3.28;3.31;3.3;3.28	5.04	5.04	0.67666	.	0.073454	0.53938	D	0.000056	T	0.26412	0.0645	M	0.79475	2.455	0.80722	D	1	D;D	0.63046	0.992;0.981	D;D	0.70935	0.968;0.971	T	0.01162	-1.1432	10	0.59425	D	0.04	.	17.1605	0.86802	0.0:0.0:1.0:0.0	.	376;743	Q86TG3;P20929	.;NEBU_HUMAN	Y	743	ENSP00000386259:H743Y;ENSP00000380505:H743Y;ENSP00000416578:H743Y;ENSP00000172853:H743Y	ENSP00000172853:H743Y	H	-	1	0	NEB	152255570	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.523000	0.90576	2.329000	0.79093	0.313000	0.20887	CAT	NEB	-	NULL		0.368	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152547324	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	A
NEDD4	4734	genome.wustl.edu	37	15	56152670	56152670	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:56152670C>T	ENST00000508342.1	-	7	2451	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	NEDD4_ENST00000506154.1_Missense_Mutation_p.E702K|NEDD4_ENST00000338963.2_Missense_Mutation_p.E646K|NEDD4_ENST00000435532.3_Missense_Mutation_p.E299K	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	718	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTCAATTCTTCTGCAAGATGA	0.453																																																	0													117.0	105.0	109.0					15																	56152670		2193	4292	6485	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2152G>A	15.37:g.56152670C>T	ENSP00000424827:p.Glu718Lys		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.E718K	ENST00000508342.1	37	c.2152		15	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578770	0.65878	.	.	ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	T;T;T;T	0.21543	2.04;2.13;2.03;2.0	5.56	4.45	0.53987	.	0.528419	0.21157	N	0.079237	T	0.20047	0.0482	L	0.32530	0.975	0.31326	N	0.685398	B;P;P;B	0.39022	0.228;0.624;0.655;0.234	B;B;B;B	0.40825	0.083;0.341;0.146;0.272	T	0.08166	-1.0735	10	0.49607	T	0.09	.	14.3955	0.67007	0.0:0.9164:0.0:0.0836	.	702;299;718;646	P46934-2;P46934-4;P46934;P46934-3	.;.;NEDD4_HUMAN;.	K	718;299;646;702	ENSP00000424827:E718K;ENSP00000410613:E299K;ENSP00000345530:E646K;ENSP00000422705:E702K	ENSP00000345530:E646K	E	-	1	0	NEDD4	53939962	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	4.062000	0.57492	2.596000	0.87737	0.585000	0.79938	GAA	NEDD4	-	NULL		0.453	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359817.1	C	NM_198400		56152670	-1	no_errors	ENST00000508342	ensembl	human	known	70_37	missense	SNP	1.000	T
NKD2	85409	genome.wustl.edu	37	5	1036407	1036407	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:1036407G>A	ENST00000296849.5	+	9	924	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000274150.4_Missense_Mutation_p.R232Q|NKD2_ENST00000537972.1_Missense_Mutation_p.R232Q	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	232					exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TGCTCGGAGCGGGGGCCCTAC	0.657																																																	0													63.0	53.0	57.0					5																	1036407		2203	4299	6502	SO:0001583	missense	85409			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.695G>A	5.37:g.1036407G>A	ENSP00000296849:p.Arg232Gln		Q96EK8|Q9BSN0	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.R232Q	ENST00000296849.5	37	c.695	CCDS3859.1	5	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858952	0.17178	.	.	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.64803	0.89;-0.12;-0.12	4.39	2.6	0.31112	.	0.075874	0.53938	D	0.000058	T	0.45955	0.1368	L	0.41961	1.31	0.80722	D	1	B;B	0.28470	0.213;0.18	B;B	0.17722	0.014;0.019	T	0.20140	-1.0284	10	0.24483	T	0.36	-8.0265	6.7936	0.23713	0.222:0.0:0.778:0.0	.	232;232	Q969F2-2;Q969F2	.;NKD2_HUMAN	Q	232	ENSP00000296849:R232Q;ENSP00000274150:R232Q;ENSP00000440925:R232Q	ENSP00000274150:R232Q	R	+	2	0	NKD2	1089407	0.962000	0.33011	0.005000	0.12908	0.030000	0.12068	3.506000	0.53364	0.308000	0.22923	-0.424000	0.05967	CGG	NKD2	-	NULL		0.657	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2	G	NM_033120		1036407	+1	no_errors	ENST00000296849	ensembl	human	known	70_37	missense	SNP	0.943	A
NIPBL	25836	genome.wustl.edu	37	5	36972051	36972051	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:36972051G>C	ENST00000282516.8	+	8	1275	c.776G>C	c.(775-777)gGa>gCa	p.G259A	NIPBL_ENST00000448238.2_Missense_Mutation_p.G259A|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	259					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTTAGGATGGAGATTCTTCA	0.383																																																	0													55.0	53.0	54.0					5																	36972051		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.776G>C	5.37:g.36972051G>C	ENSP00000282516:p.Gly259Ala		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G259A	ENST00000282516.8	37	c.776	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113963	0.56398	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94457	-3.42;-3.43	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.88153	0.6360	N	0.19112	0.55	0.36340	D	0.859406	P;P	0.42456	0.673;0.78	B;B	0.32211	0.067;0.142	D	0.88977	0.3405	10	0.21014	T	0.42	.	19.3804	0.94530	0.0:0.0:1.0:0.0	.	259;259	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	259	ENSP00000282516:G259A;ENSP00000406266:G259A	ENSP00000282516:G259A	G	+	2	0	NIPBL	37007808	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.111000	0.77077	2.577000	0.86979	0.655000	0.94253	GGA	NIPBL	-	NULL		0.383	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	G	NM_015384		36972051	+1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	C
NLGN1	22871	genome.wustl.edu	37	3	173996843	173996843	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:173996843G>C	ENST00000457714.1	+	6	1481	c.1052G>C	c.(1051-1053)cGa>cCa	p.R351P	NLGN1_ENST00000361589.4_Missense_Mutation_p.R351P|NLGN1_ENST00000545397.1_Missense_Mutation_p.R351P|NLGN1_ENST00000401917.3_Missense_Mutation_p.R391P|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	368					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAACCAGCTCGATACCACATA	0.408																																																	0													217.0	195.0	203.0					3																	173996843		2203	4300	6503	SO:0001583	missense	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1052G>C	3.37:g.173996843G>C	ENSP00000392500:p.Arg351Pro		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R391P	ENST00000457714.1	37	c.1172	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642592	0.47153	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	N	0.16743	0.435	0.80722	D	1	B;B	0.20780	0.048;0.007	B;B	0.24394	0.053;0.007	T	0.46775	-0.9167	10	0.26408	T	0.33	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	391;351	D2X2H5;Q8N2Q7-2	.;.	P	351;351;351;391	ENSP00000392500:R351P;ENSP00000354541:R351P;ENSP00000441108:R351P;ENSP00000385750:R391P	ENSP00000354541:R351P	R	+	2	0	NLGN1	175479537	1.000000	0.71417	0.951000	0.38953	0.922000	0.55478	9.869000	0.99810	2.797000	0.96272	0.563000	0.77884	CGA	NLGN1	-	pfam_CarbesteraseB		0.408	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	G	NM_014932		173996843	+1	no_errors	ENST00000401917	ensembl	human	known	70_37	missense	SNP	1.000	C
NLRP11	204801	genome.wustl.edu	37	19	56321472	56321472	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:56321472C>T	ENST00000589093.1	-	3	597	c.504G>A	c.(502-504)ttG>ttA	p.L168L	NLRP11_ENST00000589824.2_Silent_p.L168L|NLRP11_ENST00000443188.1_Silent_p.L168L|NLRP11_ENST00000360133.3_Silent_p.L168L|NLRP11_ENST00000592953.1_Silent_p.L69L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	168	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGATCCACCTCAACACAGCCA	0.448																																																	0													126.0	111.0	116.0					19																	56321472		2203	4300	6503	SO:0001819	synonymous_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.504G>A	19.37:g.56321472C>T			C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L168	ENST00000589093.1	37	c.504	CCDS12935.1	19																																																																																			NLRP11	-	pfscan_NACHT_NTPase		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	C	NM_145007		56321472	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	silent	SNP	0.000	T
NLRP13	126204	genome.wustl.edu	37	19	56436353	56436353	+	Missense_Mutation	SNP	T	T	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:56436353T>C	ENST00000342929.3	-	2	367	c.368A>G	c.(367-369)gAg>gGg	p.E123G	NLRP13_ENST00000588751.1_Missense_Mutation_p.E123G	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	123							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCTAGCATCTCTAGATCTTC	0.458																																																	0													184.0	135.0	152.0					19																	56436353		2203	4300	6503	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.368A>G	19.37:g.56436353T>C	ENSP00000343891:p.Glu123Gly		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E123G	ENST00000342929.3	37	c.368	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	T	2.901	-0.227406	0.06022	.	.	ENSG00000173572	ENST00000342929	T	0.73258	-0.73	1.65	1.65	0.23941	.	.	.	.	.	T	0.48241	0.1489	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.29397	-1.0013	9	0.29301	T	0.29	.	5.3791	0.16181	0.0:0.0:0.0:1.0	.	123	Q86W25	NAL13_HUMAN	G	123	ENSP00000343891:E123G	ENSP00000343891:E123G	E	-	2	0	NLRP13	61128165	0.006000	0.16342	0.007000	0.13788	0.002000	0.02628	0.006000	0.13152	1.037000	0.40024	0.397000	0.26171	GAG	NLRP13	-	NULL		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	T	NM_176810		56436353	-1	no_errors	ENST00000342929	ensembl	human	known	70_37	missense	SNP	0.007	C
NMT1	4836	genome.wustl.edu	37	17	43180327	43180327	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:43180327G>A	ENST00000592782.1	+	10	1133	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	NMT1_ENST00000258960.2_Silent_p.K334K			P30419	NMT1_HUMAN	N-myristoyltransferase 1	334					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AGACTCCCAAGACAGCTGGGC	0.527																																																	0													80.0	79.0	79.0					17																	43180327		2203	4300	6503	SO:0001819	synonymous_variant	4836				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1002G>A	17.37:g.43180327G>A			A8K7C1|Q9UE09	Silent	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.K334	ENST00000592782.1	37	c.1002	CCDS11494.1	17																																																																																			NMT1	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase		0.527	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	G	NM_021079		43180327	+1	no_errors	ENST00000258960	ensembl	human	known	70_37	silent	SNP	1.000	A
NPAS4	266743	genome.wustl.edu	37	11	66189939	66189939	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:66189939G>A	ENST00000311034.2	+	3	521	c.345G>A	c.(343-345)caG>caA	p.Q115Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	115	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGGTTGCCCAGGGTGACAGCA	0.537																																																	0													168.0	145.0	153.0					11																	66189939		2200	4295	6495	SO:0001819	synonymous_variant	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.345G>A	11.37:g.66189939G>A			B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.Q115	ENST00000311034.2	37	c.345	CCDS8138.1	11																																																																																			NPAS4	-	smart_PAS,pfscan_PAS		0.537	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	G	NM_178864		66189939	+1	no_errors	ENST00000311034	ensembl	human	known	70_37	silent	SNP	1.000	A
NPAS4	266743	genome.wustl.edu	37	11	66191346	66191346	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:66191346G>A	ENST00000311034.2	+	7	1161	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	329					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GTTGAACTCTGAAGACACCCA	0.562																																																	0													96.0	99.0	98.0					11																	66191346		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.985G>A	11.37:g.66191346G>A	ENSP00000311196:p.Glu329Lys		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.E329K	ENST00000311034.2	37	c.985	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040415	0.75732	.	.	ENSG00000174576	ENST00000311034	T	0.47869	0.83	4.5	4.5	0.54988	.	0.230475	0.30611	N	0.009254	T	0.49338	0.1551	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	P	0.57548	0.823	T	0.31861	-0.9928	10	0.22706	T	0.39	-8.5885	15.0797	0.72106	0.0:0.0:1.0:0.0	.	329	Q8IUM7	NPAS4_HUMAN	K	329	ENSP00000311196:E329K	ENSP00000311196:E329K	E	+	1	0	NPAS4	65947922	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.918000	0.87506	2.496000	0.84212	0.561000	0.74099	GAA	NPAS4	-	NULL		0.562	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	G	NM_178864		66191346	+1	no_errors	ENST00000311034	ensembl	human	known	70_37	missense	SNP	1.000	A
NPAT	4863	genome.wustl.edu	37	11	108044204	108044204	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:108044204C>G	ENST00000278612.8	-	13	1612	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	503					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCAGGCTGATCAGGCTGTAAC	0.368																																																	0													127.0	122.0	123.0					11																	108044204		1867	4096	5963	SO:0001583	missense	4863			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1507G>C	11.37:g.108044204C>G	ENSP00000278612:p.Asp503His		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.D503H	ENST00000278612.8	37	c.1507	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	C	4.278	0.050716	0.08243	.	.	ENSG00000149308	ENST00000278612	T	0.28069	1.63	6.08	4.21	0.49690	.	0.380295	0.29493	N	0.011997	T	0.44265	0.1285	M	0.62723	1.935	0.29803	N	0.832279	D;P	0.56287	0.975;0.956	P;P	0.56960	0.81;0.551	T	0.46289	-0.9202	10	0.62326	D	0.03	-4.1581	9.7917	0.40710	0.1397:0.7908:0.0:0.0695	.	503;503	B9EG70;Q14207	.;NPAT_HUMAN	H	503	ENSP00000278612:D503H	ENSP00000278612:D503H	D	-	1	0	NPAT	107549414	0.946000	0.32159	0.671000	0.29857	0.037000	0.13140	0.380000	0.20602	0.897000	0.36392	-0.181000	0.13052	GAT	NPAT	-	NULL		0.368	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2	C	NM_002519		108044204	-1	no_errors	ENST00000278612	ensembl	human	known	70_37	missense	SNP	0.759	G
NPC1	4864	genome.wustl.edu	37	18	21119727	21119727	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:21119727G>A	ENST00000269228.5	-	18	3350				NPC1_ENST00000412552.2_Intron|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1						adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGCCTGGCTGAGAGCCTCCT	0.448																																																	0													27.0	26.0	26.0					18																	21119727		2202	4298	6500	SO:0001627	intron_variant	4864			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2795+47C>T	18.37:g.21119727G>A			B4DET3|Q9P130	RNA	SNP	-	NULL	ENST00000269228.5	37	NULL	CCDS11878.1	18																																																																																			NPC1	-	-		0.448	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	G	NM_000271		21119727	-1	no_errors	ENST00000540608	ensembl	human	known	70_37	rna	SNP	0.000	A
NPHS1	4868	genome.wustl.edu	37	19	36339024	36339024	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:36339024C>T	ENST00000378910.5	-	11	1358	c.1359G>A	c.(1357-1359)caG>caA	p.Q453Q	NPHS1_ENST00000353632.6_Silent_p.Q453Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	453	Ig-like C2-type 5.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCGGAGCTTCTGGCCCTCTG	0.627																																																	0													45.0	56.0	52.0					19																	36339024		2203	4300	6503	SO:0001819	synonymous_variant	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1359G>A	19.37:g.36339024C>T			A6NDH2|C3RX61	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q453	ENST00000378910.5	37	c.1359	CCDS32996.1	19																																																																																			NPHS1	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.627	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	C			36339024	-1	no_errors	ENST00000378910	ensembl	human	known	70_37	silent	SNP	0.070	T
NRK	203447	genome.wustl.edu	37	X	105132304	105132304	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:105132304C>T	ENST00000243300.9	+	5	573	c.270C>T	c.(268-270)ctC>ctT	p.L90L	NRK_ENST00000536164.1_Silent_p.L90L|NRK_ENST00000428173.2_Silent_p.L90L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAGAGGATCTCAGGACTGAAC	0.428										HNSCC(51;0.14)																																							0													101.0	84.0	89.0					X																	105132304		1890	4098	5988	SO:0001819	synonymous_variant	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.270C>T	X.37:g.105132304C>T			Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L90	ENST00000243300.9	37	c.270		X																																																																																			NRK	-	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		0.428	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	C	NM_198465		105132304	+1	no_errors	ENST00000428173	ensembl	human	known	70_37	silent	SNP	0.906	T
NRXN1	9378	genome.wustl.edu	37	2	50149205	50149205	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:50149205C>G	ENST00000406316.2	-	22	5787	c.4311G>C	c.(4309-4311)gaG>gaC	p.E1437D	NRXN1_ENST00000401710.1_Missense_Mutation_p.E455D|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1467D|NRXN1_ENST00000406859.3_Missense_Mutation_p.E1437D|NRXN1_ENST00000404971.1_Missense_Mutation_p.E1507D|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1459D|NRXN1_ENST00000405472.3_Missense_Mutation_p.E1459D|NRXN1_ENST00000342183.5_Missense_Mutation_p.E402D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1437					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGTTTCGACTCTCGTCCACAT	0.478																																																	0													229.0	184.0	199.0					2																	50149205		2203	4300	6503	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4311G>C	2.37:g.50149205C>G	ENSP00000384311:p.Glu1437Asp		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	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.E1459D	ENST00000406316.2	37	c.4377	CCDS54360.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.58|17.58|17.58	3.425566|3.425566|3.425566	0.62733|0.62733|0.62733	.|.|.	.|.|.	ENSG00000179915|ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000378262|ENST00000412315	T;T;T;T;T;T;T;T|T|.	0.78595|0.70869|.	0.23;1.6;-0.52;-0.41;-1.19;-1.07;-0.79;-0.55|-0.52|.	5.44|5.44|5.44	4.56|4.56|4.56	0.56223|0.56223|0.56223	Neurexin/syndecan/glycophorin C (1);|.|.	0.000000|0.000000|.	0.51477|0.51477|.	U|U|.	0.000098|0.000098|.	T|T|T	0.73257|0.73257|0.73257	0.3564|0.3564|0.3564	M|M|M	0.74881|0.74881|0.74881	2.28|2.28|2.28	0.40074|0.40074|0.40074	D|D|D	0.976051|0.976051|0.976051	P;D;P;P;P;P|.|.	0.54964|.|.	0.927;0.969;0.939;0.739;0.882;0.65|.|.	D;P;P;B;P;P|.|.	0.67725|.|.	0.953;0.842;0.777;0.291;0.55;0.83|.|.	T|T|T	0.75465|0.75465|0.75465	-0.3308|-0.3308|-0.3308	10|8|5	0.87932|0.35671|.	D|T|.	0|0.21|.	.|.|.	14.201|14.201|14.201	0.65705|0.65705|0.65705	0.0:0.9285:0.0:0.0715|0.0:0.9285:0.0:0.0715|0.0:0.9285:0.0:0.0715	.|.|.	102;1507;402;1437;1456;99|.|.	B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0|.|.	.;.;NRX1B_HUMAN;.;.;.|.|.	D|Q|T	402;356;455;1507;1437;1459;1467;1508;1459;1437|104|170	ENSP00000341184:E402D;ENSP00000385580:E455D;ENSP00000385142:E1507D;ENSP00000384311:E1437D;ENSP00000434015:E1459D;ENSP00000385017:E1467D;ENSP00000385434:E1459D;ENSP00000385681:E1437D|ENSP00000367510:E104Q|.	ENSP00000341184:E402D|ENSP00000367510:E104Q|.	E|E|R	-|-|-	3|1|2	2|0|0	NRXN1|NRXN1|NRXN1	50002709|50002709|50002709	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	3.944000|3.944000|3.944000	0.56629|0.56629|0.56629	1.518000|1.518000|1.518000	0.48934|0.48934|0.48934	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GAG|AGA	NRXN1	-	smart_Neurexin-like		0.478	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	C			50149205	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	missense	SNP	1.000	G
PSD3	23362	genome.wustl.edu	37	8	18590981	18590981	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:18590981G>A	ENST00000327040.8	-	9	2275				PSD3_ENST00000286485.8_Intron|PSD3_ENST00000523619.1_Intron|PSD3_ENST00000440756.2_Intron|RP11-161I2.1_ENST00000524252.1_RNA	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3						neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GACTCTTTGAGAATAGCAAAT	0.448																																																	0																																										SO:0001627	intron_variant	100131275			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2172+31977C>T	8.37:g.18590981G>A			A6NFQ4|E9KL50|Q6B003|Q9Y2F1	RNA	SNP	-	NULL	ENST00000327040.8	37	NULL	CCDS43720.1	8																																																																																			RP11-161I2.1	-	-		0.448	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSAP11	Clone_based_vega_gene	protein_coding	OTTHUMT00000374867.1	G	NM_015310		18590981	+1	no_errors	ENST00000524252	ensembl	human	known	70_37	rna	SNP	0.000	A
NSUN4	387338	genome.wustl.edu	37	1	46808639	46808639	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:46808639G>A	ENST00000474844.1	+	2	743				NSUN4_ENST00000536062.1_Intron|NSUN4_ENST00000537428.1_Intron|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4						rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					CTTCCCCCAGGGACTACCTTA	0.517																																																	0																																										SO:0001627	intron_variant	387338			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.94-1834G>A	1.37:g.46808639G>A			A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	RNA	SNP	-	NULL	ENST00000474844.1	37	NULL	CCDS534.1	1																																																																																			NSUN4	-	-		0.517	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1	G	NM_199044		46808639	+1	no_errors	ENST00000498008	ensembl	human	known	70_37	rna	SNP	0.071	A
NTRK2	4915	genome.wustl.edu	37	9	87570324	87570324	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:87570324C>T	ENST00000323115.4	+	15	2369	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	NTRK2_ENST00000376213.1_Silent_p.F672F|NTRK2_ENST00000376214.1_Silent_p.F688F|NTRK2_ENST00000277120.3_Silent_p.F688F			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	672	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CCCAGCACTTCGTGCACCGCG	0.617										TSP Lung(25;0.17)																																							0													57.0	54.0	55.0					9																	87570324		2203	4300	6503	SO:0001819	synonymous_variant	4915			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2016C>T	9.37:g.87570324C>T			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.F688	ENST00000323115.4	37	c.2064	CCDS35050.1	9																																																																																			NTRK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.617	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	C			87570324	+1	no_errors	ENST00000277120	ensembl	human	known	70_37	silent	SNP	0.972	T
NUAK1	9891	genome.wustl.edu	37	12	106460991	106460991	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:106460991C>T	ENST00000261402.2	-	7	2954	c.1575G>A	c.(1573-1575)ttG>ttA	p.L525L		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	525					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGCTGTGTTTCAAGATGCCCT	0.622																																																	0													67.0	74.0	71.0					12																	106460991		2203	4300	6503	SO:0001819	synonymous_variant	9891			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1575G>A	12.37:g.106460991C>T			A7MD39|Q96KA8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L525	ENST00000261402.2	37	c.1575	CCDS31892.1	12																																																																																			NUAK1	-	NULL		0.622	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	C	NM_014840		106460991	-1	no_errors	ENST00000261402	ensembl	human	known	70_37	silent	SNP	1.000	T
OGN	4969	genome.wustl.edu	37	9	95148528	95148528	+	Silent	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:95148528G>T	ENST00000262551.4	-	6	1101	c.681C>A	c.(679-681)tcC>tcA	p.S227S	OGN_ENST00000375561.5_Silent_p.S227S|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	227					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)		p.S227S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TAAGAGGCACGGATTCCAGGG	0.368																																																	1	Substitution - coding silent(1)	endometrium(1)											195.0	187.0	190.0					9																	95148528		2203	4300	6503	SO:0001819	synonymous_variant	4969			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.681C>A	9.37:g.95148528G>T			Q6FIB0|Q9UF90|Q9UNK5	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S227	ENST00000262551.4	37	c.681	CCDS6695.1	9																																																																																			OGN	-	smart_Leu-rich_rpt_typical-subtyp		0.368	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	HGNC	protein_coding	OTTHUMT00000053087.1	G	NM_024416		95148528	-1	no_errors	ENST00000262551	ensembl	human	known	70_37	silent	SNP	1.000	T
OPA1	4976	genome.wustl.edu	37	3	193332657	193332657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:193332657C>T	ENST00000392438.3	+	2	412	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	OPA1_ENST00000361828.2_Nonsense_Mutation_p.Q60*|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361150.2_Nonsense_Mutation_p.Q60*|OPA1_ENST00000361510.2_Nonsense_Mutation_p.Q60*|OPA1_ENST00000361715.2_Nonsense_Mutation_p.Q60*|OPA1_ENST00000361908.3_Nonsense_Mutation_p.Q60*	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	60					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		gacatcctttcagcagttctc	0.393																																																	0													88.0	76.0	80.0					3																	193332657		2203	4300	6503	SO:0001587	stop_gained	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.178C>T	3.37:g.193332657C>T	ENSP00000376233:p.Gln60*		D3DNW4	Nonsense_Mutation	SNP	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	p.Q60*	ENST00000392438.3	37	c.178	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.725737	0.97792	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000392437;ENST00000392436	.	.	.	5.87	5.87	0.94306	.	0.259771	0.35555	N	0.003133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-3.4975	19.1927	0.93674	0.0:1.0:0.0:0.0	.	.	.	.	X	60	.	ENSP00000354781:Q60X	Q	+	1	0	OPA1	194815351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.874000	0.63064	2.780000	0.95670	0.650000	0.86243	CAG	OPA1	-	NULL		0.393	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	C	NM_130837		193332657	+1	no_errors	ENST00000361510	ensembl	human	known	70_37	nonsense	SNP	1.000	T
OPA1	4976	genome.wustl.edu	37	3	193355761	193355761	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:193355761G>C	ENST00000392438.3	+	9	1125	c.891G>C	c.(889-891)caG>caC	p.Q297H	OPA1_ENST00000361510.2_Missense_Mutation_p.Q352H|OPA1_ENST00000361828.2_Missense_Mutation_p.Q315H|OPA1_ENST00000361908.3_Missense_Mutation_p.Q334H|OPA1_ENST00000361715.2_Missense_Mutation_p.Q316H|OPA1_ENST00000361150.2_Missense_Mutation_p.Q298H	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	297	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTGGAGATCAGAGTGCTGGAA	0.388																																																	0													189.0	176.0	181.0					3																	193355761		2203	4300	6503	SO:0001583	missense	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.891G>C	3.37:g.193355761G>C	ENSP00000376233:p.Gln297His		D3DNW4	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	p.Q352H	ENST00000392438.3	37	c.1056	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463343	0.63513	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43;-4.43	5.6	2.79	0.32731	Dynamin, GTPase domain (2);	0.054834	0.85682	D	0.000000	D	0.98845	0.9610	H	0.98786	4.33	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;0.999;1.0;0.998;1.0	D	0.96873	0.9641	10	0.87932	D	0	-13.3164	5.7591	0.18190	0.2543:0.1424:0.6033:0.0	.	261;297;279;298;315;334;316;352	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	H	334;297;352;316;315;298	ENSP00000354681:Q334H;ENSP00000376233:Q297H;ENSP00000355324:Q352H;ENSP00000355311:Q316H;ENSP00000354429:Q315H;ENSP00000354781:Q298H	ENSP00000354781:Q298H	Q	+	3	2	OPA1	194838455	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.803000	0.62546	0.289000	0.22422	0.591000	0.81541	CAG	OPA1	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin		0.388	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	G	NM_130837		193355761	+1	no_errors	ENST00000361510	ensembl	human	known	70_37	missense	SNP	1.000	C
OR2W5	441932	genome.wustl.edu	37	1	247654732	247654732	+	RNA	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:247654732C>G	ENST00000522351.1	+	0	363							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGCCCAACTCTACATCTACA	0.577																																																	0													90.0	90.0	90.0					1																	247654732		2203	4300	6503			441932					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654732C>G			B9EH85	RNA	SNP	-	NULL	ENST00000522351.1	37	NULL		1																																																																																			OR2W5	-	-		0.577	OR2W5-002	KNOWN	basic	processed_transcript	OR2W5	HGNC	pseudogene	OTTHUMT00000375789.1	C	NM_001004698		247654732	+1	no_errors	ENST00000522351	ensembl	human	known	70_37	rna	SNP	0.001	G
OR2M2	391194	genome.wustl.edu	37	1	248343443	248343443	+	Missense_Mutation	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:248343443C>A	ENST00000359682.2	+	1	156	c.156C>A	c.(154-156)gaC>gaA	p.D52E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACCTGGACACCCAGCTCC	0.537																																																	0													309.0	294.0	299.0					1																	248343443		2203	4298	6501	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.156C>A	1.37:g.248343443C>A	ENSP00000352710:p.Asp52Glu		A3KFT4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D52E	ENST00000359682.2	37	c.156	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	c	9.293	1.051164	0.19827	.	.	ENSG00000198601	ENST00000359682	T	0.00856	5.61	2.03	-1.31	0.09230	GPCR, rhodopsin-like superfamily (1);	0.536026	0.13874	U	0.356800	T	0.01870	0.0059	M	0.75884	2.315	0.09310	N	1	B	0.27679	0.185	B	0.36504	0.226	T	0.31641	-0.9936	10	0.62326	D	0.03	.	7.8992	0.29725	0.0:0.5373:0.0:0.4627	.	52	Q96R28	OR2M2_HUMAN	E	52	ENSP00000352710:D52E	ENSP00000352710:D52E	D	+	3	2	OR2M2	246410066	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.464000	0.06688	-0.154000	0.11118	-0.391000	0.06502	GAC	OR2M2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.537	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	C	NM_001004688		248343443	+1	no_errors	ENST00000359682	ensembl	human	known	70_37	missense	SNP	0.000	A
OR3A3	8392	genome.wustl.edu	37	17	3324577	3324577	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:3324577C>G	ENST00000291231.1	+	1	716	c.716C>G	c.(715-717)tCt>tGt	p.S239C		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	239					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CAAATCCGCTCTGCTGAGGGC	0.557																																																	0													118.0	108.0	111.0					17																	3324577		2203	4300	6503	SO:0001583	missense	8392			U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.716C>G	17.37:g.3324577C>G	ENSP00000291231:p.Ser239Cys		Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S239C	ENST00000291231.1	37	c.716	CCDS11025.1	17	.	.	.	.	.	.	.	.	.	.	.	10.38	1.333514	0.24167	.	.	ENSG00000159961	ENST00000291231	T	0.00340	8.04	2.52	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01124	0.0037	M	0.93328	3.405	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.22243	-1.0222	9	0.87932	D	0	.	12.7232	0.57154	0.0:1.0:0.0:0.0	.	239	P47888	OR3A3_HUMAN	C	239	ENSP00000291231:S239C	ENSP00000291231:S239C	S	+	2	0	OR3A3	3271327	0.000000	0.05858	0.010000	0.14722	0.102000	0.19082	0.436000	0.21526	1.692000	0.51112	0.650000	0.86243	TCT	OR3A3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A3	HGNC	protein_coding	OTTHUMT00000207309.1	C			3324577	+1	no_errors	ENST00000291231	ensembl	human	known	70_37	missense	SNP	0.099	G
OR51F2	119694	genome.wustl.edu	37	11	4843349	4843349	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:4843349C>T	ENST00000322110.5	+	1	799	c.734C>T	c.(733-735)tCa>tTa	p.S245L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	245						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(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGCTTCCTCAGAAGAGAGG	0.493																																																	0													201.0	151.0	168.0					11																	4843349		2201	4298	6499	SO:0001583	missense	119694			BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.734C>T	11.37:g.4843349C>T	ENSP00000323952:p.Ser245Leu		Q6IFI1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S245L	ENST00000322110.5	37	c.734	CCDS31361.1	11	.	.	.	.	.	.	.	.	.	.	C	5.446	0.267336	0.10294	.	.	ENSG00000176925	ENST00000322110	T	0.00084	8.75	4.61	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.748976	0.10881	U	0.623750	T	0.00144	0.0004	L	0.45137	1.4	0.09310	N	1	B	0.19583	0.037	B	0.24006	0.05	T	0.16778	-1.0391	10	0.27785	T	0.31	.	5.129	0.14899	0.297:0.5924:0.0:0.1106	.	245	Q8NH61	O51F2_HUMAN	L	245	ENSP00000323952:S245L	ENSP00000323952:S245L	S	+	2	0	OR51F2	4799925	0.000000	0.05858	0.589000	0.28718	0.196000	0.23810	-0.546000	0.06062	1.174000	0.42811	0.561000	0.74099	TCA	OR51F2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51F2	HGNC	protein_coding	OTTHUMT00000142181.1	C	NM_001004753		4843349	+1	no_errors	ENST00000322110	ensembl	human	known	70_37	missense	SNP	0.013	T
OR5P3	120066	genome.wustl.edu	37	11	7846834	7846834	+	Missense_Mutation	SNP	T	T	C	rs139657716	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:7846834T>C	ENST00000328375.1	-	1	685	c.686A>G	c.(685-687)cAc>cGc	p.H229R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTGGTGGAGTGCATCTTCAG	0.488																																																	0								T	ARG/HIS	4,4370	8.1+/-20.4	0,4,2183	105.0	88.0	94.0		686	-2.1	0.0	11	dbSNP_134	94	0,8592		0,0,4296	no	missense	OR5P3	NM_153445.1	29	0,4,6479	CC,CT,TT		0.0,0.0914,0.0308	benign	229/312	7846834	4,12962	2187	4296	6483	SO:0001583	missense	120066			AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.686A>G	11.37:g.7846834T>C	ENSP00000332068:p.His229Arg		Q6IFE1|Q8NGM2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H229R	ENST00000328375.1	37	c.686	CCDS7783.1	11	.	.	.	.	.	.	.	.	.	.	t	0.001	-2.992268	0.00045	9.14E-4	0.0	ENSG00000182334	ENST00000328375	T	0.34472	1.36	5.12	-2.08	0.07254	GPCR, rhodopsin-like superfamily (1);	0.519441	0.17795	N	0.161771	T	0.11793	0.0287	N	0.05280	-0.08	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.33033	-0.9884	10	0.02654	T	1	-0.7651	7.2361	0.26070	0.0:0.5111:0.1137:0.3751	.	229	Q8WZ94	OR5P3_HUMAN	R	229	ENSP00000332068:H229R	ENSP00000332068:H229R	H	-	2	0	OR5P3	7803410	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-3.151000	0.00582	-0.615000	0.05679	-2.499000	0.00192	CAC	OR5P3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.488	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P3	HGNC	protein_coding	OTTHUMT00000385697.1	T	NM_153445		7846834	-1	no_errors	ENST00000328375	ensembl	human	known	70_37	missense	SNP	0.000	C
PABPC5	140886	genome.wustl.edu	37	X	90690973	90690973	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:90690973C>T	ENST00000312600.3	+	2	611	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	133	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGGGAACATTCTGTCCTGCAA	0.438																																																	0													98.0	88.0	92.0					X																	90690973		2203	4300	6503	SO:0001819	synonymous_variant	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.397C>T	X.37:g.90690973C>T			A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.L133	ENST00000312600.3	37	c.397	CCDS14460.1	X																																																																																			PABPC5	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.438	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	C	NM_080832		90690973	+1	no_errors	ENST00000312600	ensembl	human	known	70_37	silent	SNP	1.000	T
PAK1	5058	genome.wustl.edu	37	11	77043794	77043794	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:77043794G>A	ENST00000356341.3	-	14	2063	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_Missense_Mutation_p.S511L|PAK1_ENST00000528203.1_Missense_Mutation_p.S413L|PAK1_ENST00000278568.4_Missense_Mutation_p.S511L	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	511	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CTCTTTAGCTGAACCTCTCTT	0.473																																																	0													196.0	207.0	203.0					11																	77043794		2200	4292	6492	SO:0001583	missense	5058			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.1532C>T	11.37:g.77043794G>A	ENSP00000348696:p.Ser511Leu		O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,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.S511L	ENST00000356341.3	37	c.1532	CCDS8250.1	11	.	.	.	.	.	.	.	.	.	.	g	23.6	4.430319	0.83776	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87325	0.6149	M	0.93241	3.395	0.80722	D	1	D;D;P;B	0.76494	0.999;0.998;0.943;0.058	D;D;P;B	0.79108	0.992;0.965;0.856;0.169	D	0.89093	0.3484	10	0.62326	D	0.03	.	20.326	0.98701	0.0:0.0:1.0:0.0	.	413;511;511;511	E9PM17;B3KNX7;Q13153;Q13153-2	.;.;PAK1_HUMAN;.	L	511;511;511;413	ENSP00000348696:S511L;ENSP00000433423:S511L;ENSP00000278568:S511L;ENSP00000433211:S413L	ENSP00000278568:S511L	S	-	2	0	PAK1	76721442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.504000	0.81646	2.811000	0.96726	0.651000	0.88453	TCA	PAK1	-	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		0.473	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1	HGNC	protein_coding	OTTHUMT00000382083.2	G	NM_002576		77043794	-1	no_errors	ENST00000278568	ensembl	human	known	70_37	missense	SNP	1.000	A
PAN3	255967	genome.wustl.edu	37	13	28794441	28794441	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:28794441C>G	ENST00000380958.3	+	6	1078	c.926C>G	c.(925-927)tCa>tGa	p.S309*	PAN3_ENST00000399613.1_Nonsense_Mutation_p.S109*	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.S109*(1)|p.S309*(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GTGTCCCAGTCAAATATGTCT	0.428																																																	2	Substitution - Nonsense(2)	lung(2)											204.0	197.0	199.0					13																	28794441		2203	4300	6503	SO:0001587	stop_gained	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.926C>G	13.37:g.28794441C>G	ENSP00000370345:p.Ser309*			Nonsense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom	p.S309*	ENST00000380958.3	37	c.926	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	C	36	5.932052	0.97116	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	.	.	.	5.88	5.88	0.94601	.	0.119337	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-8.1051	20.2371	0.98361	0.0:1.0:0.0:0.0	.	.	.	.	X	309;109	.	ENSP00000370345:S309X	S	+	2	0	PAN3	27692441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.642000	0.67888	2.788000	0.95919	0.555000	0.69702	TCA	PAN3	-	NULL		0.428	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	C	NM_175854		28794441	+1	no_errors	ENST00000380958	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PANK1	53354	genome.wustl.edu	37	10	91404972	91404972	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:91404972C>G	ENST00000307534.4	-	1	243	c.88G>C	c.(88-90)Gaa>Caa	p.E30Q	RP11-80H5.6_ENST00000428166.1_lincRNA|RP11-80H5.2_ENST00000454174.1_RNA|PANK1_ENST00000322191.6_5'Flank|PANK1_ENST00000488482.1_5'Flank|PANK1_ENST00000342512.3_5'Flank|PANK1_ENST00000371774.2_5'Flank|RP11-80H5.2_ENST00000451733.1_RNA	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	30					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						CGCGCGACTTCAAACGCGGCT	0.711																																																	0													10.0	12.0	11.0					10																	91404972		1731	3643	5374	SO:0001583	missense	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.88G>C	10.37:g.91404972C>G	ENSP00000302108:p.Glu30Gln		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.E30Q	ENST00000307534.4	37	c.88	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571848	0.86542	.	.	ENSG00000152782	ENST00000307534	D	0.99656	-6.31	4.55	3.62	0.41486	.	0.000000	0.36932	N	0.002333	D	0.96972	0.9011	N	0.14661	0.345	0.80722	D	1	P	0.43392	0.805	B	0.38378	0.272	D	0.95919	0.8929	10	0.31617	T	0.26	.	8.6303	0.33915	0.0:0.8932:0.0:0.1068	.	30	Q8TE04	PANK1_HUMAN	Q	30	ENSP00000302108:E30Q	ENSP00000302108:E30Q	E	-	1	0	PANK1	91394952	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.558000	0.45879	2.345000	0.79718	0.655000	0.94253	GAA	PANK1	-	NULL		0.711	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	HGNC	protein_coding		C			91404972	-1	no_errors	ENST00000307534	ensembl	human	known	70_37	missense	SNP	1.000	G
PAX1	5075	genome.wustl.edu	37	20	21695220	21695220	+	Silent	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:21695220C>A	ENST00000398485.2	+	5	1438	c.1384C>A	c.(1384-1386)Cga>Aga	p.R462R	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	462					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TCCCCGGACCCGAGCCCGGAG	0.731																																																	0													6.0	7.0	7.0					20																	21695220		2159	4231	6390	SO:0001819	synonymous_variant	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1384C>A	20.37:g.21695220C>A			B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.R462	ENST00000398485.2	37	c.1384	CCDS13146.2	20																																																																																			PAX1	-	NULL		0.731	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	C			21695220	+1	no_errors	ENST00000398485	ensembl	human	known	70_37	silent	SNP	0.000	A
PCDH15	65217	genome.wustl.edu	37	10	55582403	55582403	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:55582403C>G	ENST00000320301.6	-	33	5477	c.5083G>C	c.(5083-5085)Gag>Cag	p.E1695Q	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1692Q|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1672Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1626Q|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1697Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1655Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1695					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAGGAACACTCAGCAGGAGAA	0.418										HNSCC(58;0.16)																																							0													116.0	115.0	116.0					10																	55582403		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5083G>C	10.37:g.55582403C>G	ENSP00000322604:p.Glu1695Gln		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1695Q	ENST00000320301.6	37	c.5083	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823875	0.32237	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.56941	0.46;0.43;0.47;0.44;0.44;0.46	4.71	4.71	0.59529	.	.	.	.	.	T	0.41442	0.1159	N	0.14661	0.345	0.25438	N	0.988122	B;B;B;B;P;B;B;B	0.37370	0.437;0.437;0.437;0.437;0.592;0.437;0.437;0.437	B;B;B;B;B;B;B;B	0.37601	0.254;0.184;0.184;0.184;0.184;0.184;0.146;0.184	T	0.46190	-0.9209	9	0.72032	D	0.01	.	17.2256	0.86969	0.0:1.0:0.0:0.0	.	1672;1695;1697;1702;1626;1655;1692;1695	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	Q	1655;1697;1672;1695;1692;1702;1626	ENSP00000378820:E1655Q;ENSP00000354950:E1697Q;ENSP00000378821:E1672Q;ENSP00000322604:E1695Q;ENSP00000378818:E1692Q;ENSP00000412628:E1626Q	ENSP00000322604:E1695Q	E	-	1	0	PCDH15	55252409	0.988000	0.35896	0.665000	0.29768	0.333000	0.28666	2.120000	0.41968	2.162000	0.67917	0.561000	0.74099	GAG	PCDH15	-	NULL		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	C	NM_033056		55582403	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	missense	SNP	0.969	G
PCDH19	57526	genome.wustl.edu	37	X	99662728	99662728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:99662728G>A	ENST00000373034.4	-	1	2543	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	PCDH19_ENST00000255531.7_Nonsense_Mutation_p.Q290*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.Q290*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	290	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGGTCGATCTGAAAGAGCTCG	0.612																																																	0													93.0	99.0	97.0					X																	99662728		2155	4240	6395	SO:0001587	stop_gained	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.868C>T	X.37:g.99662728G>A	ENSP00000362125:p.Gln290*		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q290*	ENST00000373034.4	37	c.868	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.096394	0.97281	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	.	.	.	5.95	5.95	0.96441	.	0.100002	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	14.1309	0.65253	0.0:0.0:0.8502:0.1498	.	.	.	.	X	290	.	ENSP00000255531:Q290X	Q	-	1	0	PCDH19	99549384	1.000000	0.71417	0.997000	0.53966	0.870000	0.49936	4.876000	0.63079	2.498000	0.84270	0.513000	0.50165	CAG	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.612	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	G	NM_020766		99662728	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PCDH8	5100	genome.wustl.edu	37	13	53419040	53419040	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:53419040C>G	ENST00000377942.3	-	3	3071	c.2868G>C	c.(2866-2868)aaG>aaC	p.K956N	PCDH8_ENST00000338862.4_Missense_Mutation_p.K859N	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	956			K -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.K956N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGCCCAGGATCTTACACTCAG	0.532																																					GBM(36;25 841 9273 49207)												1	Substitution - Missense(1)	breast(1)											84.0	57.0	66.0					13																	53419040		2203	4300	6503	SO:0001583	missense	5100			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2868G>C	13.37:g.53419040C>G	ENSP00000367177:p.Lys956Asn		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K956N	ENST00000377942.3	37	c.2868	CCDS9438.1	13	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710190	0.68730	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.54866	0.62;0.55	5.95	5.95	0.96441	.	0.000000	0.46442	D	0.000299	T	0.67468	0.2896	L	0.43152	1.355	0.44890	D	0.997909	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.946	T	0.65915	-0.6052	10	0.56958	D	0.05	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	859;956	O95206-2;O95206	.;PCDH8_HUMAN	N	956;859;482;799	ENSP00000367177:K956N;ENSP00000341350:K859N	ENSP00000341350:K859N	K	-	3	2	PCDH8	52317041	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.980000	0.49321	2.817000	0.96982	0.563000	0.77884	AAG	PCDH8	-	NULL		0.532	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH8	HGNC	protein_coding	OTTHUMT00000045108.2	C	NM_002590		53419040	-1	no_errors	ENST00000377942	ensembl	human	known	70_37	missense	SNP	1.000	G
PCDHB12	56124	genome.wustl.edu	37	5	140589396	140589396	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:140589396C>G	ENST00000239450.2	+	1	1106	c.917C>G	c.(916-918)cCt>cGt	p.P306R	PCDHB12_ENST00000541609.1_5'UTR	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	306	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAACAGCACCTTTGGATTTT	0.373																																																	0													66.0	70.0	69.0					5																	140589396		2203	4300	6503	SO:0001583	missense	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.917C>G	5.37:g.140589396C>G	ENSP00000239450:p.Pro306Arg		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P306R	ENST00000239450.2	37	c.917	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.416279	0.01136	.	.	ENSG00000120328	ENST00000239450	T	0.01705	4.68	4.06	-1.91	0.07641	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01905	0.0060	L	0.49455	1.56	0.09310	N	0.999998	B	0.23990	0.095	B	0.33121	0.158	T	0.49428	-0.8941	9	0.21014	T	0.42	.	0.965	0.01403	0.4541:0.2067:0.1162:0.2229	.	306	Q9Y5F1	PCDBC_HUMAN	R	306	ENSP00000239450:P306R	ENSP00000239450:P306R	P	+	2	0	PCDHB12	140569580	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-1.977000	0.01495	-0.075000	0.12798	0.491000	0.48974	CCT	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.373	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	C	NM_018932		140589396	+1	no_errors	ENST00000239450	ensembl	human	known	70_37	missense	SNP	0.000	G
PCDHGC4	56098	genome.wustl.edu	37	5	140865903	140865903	+	Missense_Mutation	SNP	G	G	A	rs534793835	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:140865903G>A	ENST00000306593.1	+	1	1163	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	388	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCCTCCGCATTCCTGAC	0.557													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19248	0.0		0.0	False		,,,				2504	0.0																0													118.0	96.0	103.0					5																	140865903		2203	4300	6503	SO:0001583	missense	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1163G>A	5.37:g.140865903G>A	ENSP00000306918:p.Arg388His		Q495T2|Q9Y5C3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R388H	ENST00000306593.1	37	c.1163	CCDS4262.1	5	.	.	.	.	.	.	.	.	.	.	G	9.629	1.135819	0.21123	.	.	ENSG00000242419	ENST00000306593	T	0.01787	4.64	5.01	5.01	0.66863	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01730	0.0055	L	0.28344	0.845	0.30795	N	0.740499	B;B	0.24317	0.101;0.025	B;B	0.25140	0.057;0.058	T	0.20306	-1.0279	9	0.41790	T	0.15	.	6.3766	0.21511	0.2177:0.0:0.7823:0.0	.	388;388	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	H	388	ENSP00000306918:R388H	ENSP00000306918:R388H	R	+	2	0	PCDHGC4	140846087	0.002000	0.14202	0.983000	0.44433	0.680000	0.39746	1.512000	0.35812	2.597000	0.87782	0.563000	0.77884	CGC	PCDHGC4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.557	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC4	HGNC	protein_coding	OTTHUMT00000251820.1	G	NM_018928		140865903	+1	no_errors	ENST00000306593	ensembl	human	known	70_37	missense	SNP	0.997	A
PCLO	27445	genome.wustl.edu	37	7	82580735	82580735	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:82580735C>T	ENST00000333891.9	-	6	9506	c.9169G>A	c.(9169-9171)Ggg>Agg	p.G3057R	PCLO_ENST00000423517.2_Missense_Mutation_p.G3057R|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTACTAATCCCAGCTCCTGAA	0.458																																																	0													96.0	90.0	92.0					7																	82580735		1906	4124	6030	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9169G>A	7.37:g.82580735C>T	ENSP00000334319:p.Gly3057Arg			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.G3057R	ENST00000333891.9	37	c.9169	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	9.623	1.134452	0.21123	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.22336	1.96;1.97	5.58	5.58	0.84498	.	.	.	.	.	T	0.47116	0.1428	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.96;0.996;0.996	T	0.40608	-0.9554	9	0.87932	D	0	.	19.1624	0.93539	0.0:1.0:0.0:0.0	.	2988;3057;3057	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	R	2988;3057;3057	ENSP00000334319:G3057R;ENSP00000388393:G3057R	ENSP00000334319:G3057R	G	-	1	0	PCLO	82418671	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.740000	0.62087	2.634000	0.89283	0.563000	0.77884	GGG	PCLO	-	NULL		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82580735	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	T
PCNT	5116	genome.wustl.edu	37	21	47836346	47836346	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:47836346G>C	ENST00000359568.5	+	30	6621	c.6514G>C	c.(6514-6516)Gat>Cat	p.D2172H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2172					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTTGATACCAGATGAAATGCC	0.458																																																	0													97.0	111.0	106.0					21																	47836346		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6514G>C	21.37:g.47836346G>C	ENSP00000352572:p.Asp2172His		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.D2172H	ENST00000359568.5	37	c.6514	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707665	0.30322	.	.	ENSG00000160299	ENST00000359568	T	0.01505	4.82	4.35	-1.3	0.09259	.	1.050420	0.07614	N	0.925902	T	0.01905	0.0060	L	0.36672	1.1	0.09310	N	1	P;P	0.45902	0.699;0.868	B;B	0.42827	0.35;0.399	T	0.45220	-0.9276	10	0.42905	T	0.14	.	4.3337	0.11076	0.5118:0.1719:0.3163:0.0	.	2054;2172	O95613-2;O95613	.;PCNT_HUMAN	H	2172	ENSP00000352572:D2172H	ENSP00000352572:D2172H	D	+	1	0	PCNT	46660774	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.020000	0.13466	-0.308000	0.08792	-0.302000	0.09304	GAT	PCNT	-	NULL		0.458	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47836346	+1	no_errors	ENST00000359568	ensembl	human	known	70_37	missense	SNP	0.000	C
PCNXL4	64430	genome.wustl.edu	37	14	60574948	60574948	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:60574948G>A	ENST00000406854.1	+	2	1146	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.E198K|PCNXL4_ENST00000391611.2_Missense_Mutation_p.E198K|PCNXL4_ENST00000317623.4_Intron			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	198						integral component of membrane (GO:0016021)											CACAGCTACAGAGACTGCGAC	0.378																																																	0													121.0	128.0	126.0					14																	60574948		876	1991	2867	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.592G>A	14.37:g.60574948G>A	ENSP00000384801:p.Glu198Lys		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.E198K	ENST00000406854.1	37	c.592		14	.	.	.	.	.	.	.	.	.	.	G	32	5.186275	0.94885	.	.	ENSG00000126773	ENST00000391611;ENST00000406854;ENST00000404681	T;T	0.37584	1.19;1.19	5.39	5.39	0.77823	.	0.379473	0.08080	U	1.000000	T	0.61198	0.2328	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57254	-0.7843	7	0.87932	D	0	.	19.1598	0.93526	0.0:0.0:1.0:0.0	.	.	.	.	K	198	ENSP00000384801:E198K;ENSP00000385713:E198K	ENSP00000375469:E198K	E	+	1	0	C14orf135	59644701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.530000	0.85305	0.655000	0.94253	GAG	PCNXL4	-	NULL		0.378	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	G	NM_022495		60574948	+1	no_errors	ENST00000404681	ensembl	human	known	70_37	missense	SNP	1.000	A
PDE4DIP	9659	genome.wustl.edu	37	1	145074997	145074997	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:145074997G>A	ENST00000369345.4	-	2	511	c.297C>T	c.(295-297)atC>atT	p.I99I	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAAAGCAAAGGATTGATTTTA	0.458			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													95.0	93.0	94.0					1																	145074997		876	1991	2867	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369345.4:c.297C>T	1.37:g.145074997G>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	NULL	p.I99	ENST00000369345.4	37	c.297		1																																																																																			PDE4DIP	-	NULL		0.458	PDE4DIP-009	PUTATIVE	basic	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038864.2	G	NM_022359		145074997	-1	no_errors	ENST00000369345	ensembl	human	putative	70_37	silent	SNP	0.000	A
PDZD7	79955	genome.wustl.edu	37	10	102780424	102780424	+	Silent	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:102780424C>A	ENST00000370215.3	-	7	1104	c.879G>T	c.(877-879)cgG>cgT	p.R293R		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	293	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGGCAGGATACCGGCCGGTCT	0.602																																																	0													59.0	56.0	57.0					10																	102780424		2203	4300	6503	SO:0001819	synonymous_variant	79955			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.879G>T	10.37:g.102780424C>A			D5FJ77|Q8N321	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R293	ENST00000370215.3	37	c.879	CCDS31269.1	10																																																																																			PDZD7	-	superfamily_PDZ		0.602	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	C	NM_024895		102780424	-1	no_errors	ENST00000370215	ensembl	human	known	70_37	silent	SNP	0.962	A
PER1	5187	genome.wustl.edu	37	17	8050872	8050872	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:8050872G>A	ENST00000317276.4	-	12	1650	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	PER1_ENST00000354903.5_Silent_p.F455F|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Silent_p.F451F	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	471					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCGGGGGAGTGAACACGTCCT	0.647			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													22.0	25.0	24.0					17																	8050872		2202	4300	6502	SO:0001819	synonymous_variant	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1413C>T	17.37:g.8050872G>A			B2RPA8|B4DI49|D3DTR3	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.F471	ENST00000317276.4	37	c.1413	CCDS11131.1	17																																																																																			PER1	-	NULL		0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	G			8050872	-1	no_errors	ENST00000317276	ensembl	human	known	70_37	silent	SNP	1.000	A
PER1	5187	genome.wustl.edu	37	17	8051105	8051105	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:8051105G>A	ENST00000317276.4	-	11	1512	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	PER1_ENST00000354903.5_Silent_p.I409I|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Silent_p.I405I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	425	PAC.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CACAGAAGCGGATAGGGGAGT	0.622			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													36.0	37.0	36.0					17																	8051105		2202	4300	6502	SO:0001819	synonymous_variant	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1275C>T	17.37:g.8051105G>A			B2RPA8|B4DI49|D3DTR3	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.I425	ENST00000317276.4	37	c.1275	CCDS11131.1	17																																																																																			PER1	-	pfam_PAS_fold_3		0.622	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	G			8051105	-1	no_errors	ENST00000317276	ensembl	human	known	70_37	silent	SNP	0.892	A
PGM2L1	283209	genome.wustl.edu	37	11	74085555	74085555	+	Missense_Mutation	SNP	A	A	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:74085555A>G	ENST00000298198.4	-	2	495	c.184T>C	c.(184-186)Tgt>Cgt	p.C62R		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	62					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ATTCGGCAACAAAGACGATCT	0.408																																																	0													145.0	120.0	128.0					11																	74085555		2200	4293	6493	SO:0001583	missense	283209			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.184T>C	11.37:g.74085555A>G	ENSP00000298198:p.Cys62Arg		Q96MQ7|Q9UIK3	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III	p.C62R	ENST00000298198.4	37	c.184	CCDS8231.1	11	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250083	0.59212	.	.	ENSG00000165434	ENST00000298198	T	0.62364	0.03	4.85	4.85	0.62838	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	L	0.39147	1.195	0.80722	D	1	B	0.31625	0.332	B	0.33042	0.157	T	0.49753	-0.8906	10	0.25106	T	0.35	-13.4833	12.4308	0.55573	1.0:0.0:0.0:0.0	.	62	Q6PCE3	PGM2L_HUMAN	R	62	ENSP00000298198:C62R	ENSP00000298198:C62R	C	-	1	0	PGM2L1	73763203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.693000	0.61753	2.029000	0.59856	0.460000	0.39030	TGT	PGM2L1	-	superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.408	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2L1	HGNC	protein_coding	OTTHUMT00000398324.1	A	NM_173582		74085555	-1	no_errors	ENST00000298198	ensembl	human	known	70_37	missense	SNP	1.000	G
PHF2	5253	genome.wustl.edu	37	9	96421802	96421802	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:96421802G>C	ENST00000359246.4	+	11	1616	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	417					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GGCTTTGGCAGAGCATGAGGA	0.607																																																	0													57.0	53.0	54.0					9																	96421802		2203	4300	6503	SO:0001583	missense	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1249G>C	9.37:g.96421802G>C	ENSP00000352185:p.Glu417Gln		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.E417Q	ENST00000359246.4	37	c.1249	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096504	0.76870	.	.	ENSG00000197724	ENST00000359246	T	0.53206	0.63	4.42	4.42	0.53409	.	0.116088	0.64402	D	0.000018	T	0.45657	0.1353	L	0.51422	1.61	0.80722	D	1	D	0.54047	0.964	B	0.42163	0.378	T	0.53287	-0.8460	10	0.51188	T	0.08	-39.4531	17.2089	0.86925	0.0:0.0:1.0:0.0	.	417	O75151	PHF2_HUMAN	Q	417	ENSP00000352185:E417Q	ENSP00000352185:E417Q	E	+	1	0	PHF2	95461623	1.000000	0.71417	0.998000	0.56505	0.634000	0.38068	9.274000	0.95731	2.280000	0.76307	0.297000	0.19635	GAG	PHF2	-	NULL		0.607	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	G	NM_005392		96421802	+1	no_errors	ENST00000359246	ensembl	human	known	70_37	missense	SNP	1.000	C
PI4KAP2	375133	genome.wustl.edu	37	22	21842196	21842196	+	RNA	SNP	C	C	G	rs568674125		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:21842196C>G	ENST00000450651.1	-	0	584							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(3)|urinary_tract(1)	4						CGTGCCGGTTCATGCTCCCCT	0.627																																																	0													47.0	40.0	42.0					22																	21842196		692	1582	2274			375133					22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21842196C>G			Q6ICJ0|Q6ZT68|Q8WUK7	RNA	SNP	-	NULL	ENST00000450651.1	37	NULL		22																																																																																			PI4KAP2	-	-		0.627	PI4KAP2-005	KNOWN	basic	processed_transcript	PI4KAP2	HGNC	pseudogene	OTTHUMT00000334908.1	C			21842196	-1	no_errors	ENST00000450651	ensembl	human	known	70_37	rna	SNP	1.000	G
PIKFYVE	200576	genome.wustl.edu	37	2	209136281	209136281	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:209136281C>T	ENST00000264380.4	+	2	196	c.38C>T	c.(37-39)tCt>tTt	p.S13F	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S13F|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S13F|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S13F	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	13					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACACTGGACTCTGCTAATGAT	0.403																																																	0													271.0	259.0	263.0					2																	209136281		2203	4300	6503	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.38C>T	2.37:g.209136281C>T	ENSP00000264380:p.Ser13Phe		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.S13F	ENST00000264380.4	37	c.38	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839934	0.51057	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000422495;ENST00000452564	T;T;T;T	0.66460	1.52;-0.21;-0.17;1.67	5.23	5.23	0.72850	.	0.414873	0.24803	N	0.035466	T	0.54287	0.1849	N	0.14661	0.345	0.22199	N	0.999298	B;B;B;B;B	0.31009	0.303;0.0;0.0;0.0;0.001	B;B;B;B;B	0.33890	0.172;0.001;0.0;0.0;0.001	T	0.56511	-0.7967	10	0.59425	D	0.04	-6.0023	16.9744	0.86309	0.0:1.0:0.0:0.0	.	13;13;13;13;13	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	F	13	ENSP00000264380:S13F;ENSP00000384356:S13F;ENSP00000414477:S13F;ENSP00000405736:S13F	ENSP00000264380:S13F	S	+	2	0	PIKFYVE	208844526	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	2.486000	0.45259	2.452000	0.82932	0.655000	0.94253	TCT	PIKFYVE	-	NULL		0.403	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	C	NM_015040		209136281	+1	no_errors	ENST00000264380	ensembl	human	known	70_37	missense	SNP	1.000	T
PITPNM3	83394	genome.wustl.edu	37	17	6367192	6367192	+	Missense_Mutation	SNP	C	C	G	rs368515060		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:6367192C>G	ENST00000262483.8	-	17	2253	c.2166G>C	c.(2164-2166)caG>caC	p.Q722H	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.Q686H	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	722					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGGCACAGGTCTGGTCGCCCC	0.582																																																	0								C	HIS/GLN,HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	80.0	59.0	66.0		2058,2166	4.2	1.0	17		66	0,8600		0,0,4300	no	missense,missense	PITPNM3	NM_001165966.1,NM_031220.3	24,24	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	686/939,722/975	6367192	1,13005	2203	4300	6503	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2166G>C	17.37:g.6367192C>G	ENSP00000262483:p.Gln722His		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.Q722H	ENST00000262483.8	37	c.2166	CCDS11076.1	17	.	.	.	.	.	.	.	.	.	.	C	1.720	-0.496951	0.04291	2.27E-4	0.0	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.38887	1.11;1.11	5.13	4.15	0.48705	.	0.057932	0.64402	N	0.000001	T	0.30448	0.0765	N	0.01729	-0.75	0.42382	D	0.992497	B;D	0.89917	0.003;1.0	B;D	0.68192	0.009;0.956	T	0.23476	-1.0187	10	0.02654	T	1	.	13.2645	0.60125	0.0:0.839:0.161:0.0	.	686;722	F8WEW5;Q9BZ71	.;PITM3_HUMAN	H	722;686	ENSP00000262483:Q722H;ENSP00000407882:Q686H	ENSP00000262483:Q722H	Q	-	3	2	PITPNM3	6307916	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.922000	0.28734	1.128000	0.42052	0.561000	0.74099	CAG	PITPNM3	-	NULL		0.582	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	C	NM_031220		6367192	-1	no_errors	ENST00000262483	ensembl	human	known	70_37	missense	SNP	1.000	G
PAQR4	124222	genome.wustl.edu	37	16	3022752	3022752	+	3'UTR	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:3022752G>C	ENST00000318782.8	+	0	2055				PKMYT1_ENST00000571102.1_5'Flank|PKMYT1_ENST00000431515.2_Silent_p.V464V|PAQR4_ENST00000572687.1_3'UTR|PAQR4_ENST00000293978.8_3'UTR	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV							integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GGGGCGTTAAGACCCTGGATG	0.552																																																	0																																										SO:0001624	3_prime_UTR_variant	9088				CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.*803G>C	16.37:g.3022752G>C			A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	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.V464	ENST00000318782.8	37	c.1392	CCDS10485.1	16																																																																																			PKMYT1	-	NULL		0.552	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKMYT1	HGNC	protein_coding	OTTHUMT00000250966.1	G	NM_152341		3022752	-1	no_errors	ENST00000431515	ensembl	human	putative	70_37	silent	SNP	0.000	C
PLA2G12B	84647	genome.wustl.edu	37	10	74695398	74695398	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:74695398C>G	ENST00000373032.3	-	4	657	c.565G>C	c.(565-567)Gag>Cag	p.E189Q		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	189					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TTCTCCTCCTCTGCACAGATG	0.522																																																	0													149.0	126.0	134.0					10																	74695398		2203	4300	6503	SO:0001583	missense	84647			AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"""phospholipase A2, group XIII"""	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.565G>C	10.37:g.74695398C>G	ENSP00000362123:p.Glu189Gln		B7ZL23|Q52LB2|Q96Q99	Missense_Mutation	SNP	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2	p.E189Q	ENST00000373032.3	37	c.565	CCDS7319.1	10	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911274	0.52439	.	.	ENSG00000138308	ENST00000373032	.	.	.	5.96	5.96	0.96718	.	0.046764	0.85682	D	0.000000	T	0.74772	0.3760	L	0.51422	1.61	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.958	T	0.67741	-0.5592	9	0.26408	T	0.33	-7.8485	20.4008	0.98991	0.0:1.0:0.0:0.0	.	188;189	B7ZL23;Q9BX93	.;PG12B_HUMAN	Q	189	.	ENSP00000362123:E189Q	E	-	1	0	PLA2G12B	74365404	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	GAG	PLA2G12B	-	pfam_PLipase_A2_secretory_G12		0.522	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G12B	HGNC	protein_coding	OTTHUMT00000048598.1	C	NM_032562		74695398	-1	no_errors	ENST00000373032	ensembl	human	known	70_37	missense	SNP	1.000	G
PLCE1	51196	genome.wustl.edu	37	10	96025689	96025689	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:96025689G>C	ENST00000371380.3	+	15	4490	c.4255G>C	c.(4255-4257)Gaa>Caa	p.E1419Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.E1111Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.E1419Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.E1111Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1419	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTCAAAGGAGAATCCTCGGT	0.423																																																	0													93.0	93.0	93.0					10																	96025689		1888	4111	5999	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4255G>C	10.37:g.96025689G>C	ENSP00000360431:p.Glu1419Gln		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.E1419Q	ENST00000371380.3	37	c.4255	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750602	0.89753	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.97	5.97	0.96955	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.386119	0.29266	N	0.012659	T	0.79417	0.4442	M	0.66439	2.03	0.51767	D	0.999939	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.995;0.999	T	0.78142	-0.2319	10	0.54805	T	0.06	.	20.0428	0.97598	0.0:0.0:1.0:0.0	.	1403;1111;1419	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	1419;1419;1111;1111	ENSP00000260766:E1419Q;ENSP00000360431:E1419Q;ENSP00000360438:E1111Q;ENSP00000360426:E1111Q	ENSP00000260766:E1419Q	E	+	1	0	PLCE1	96015679	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.827000	0.99397	2.833000	0.97629	0.585000	0.79938	GAA	PLCE1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	G	NM_016341		96025689	+1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	C
PLEKHD1	400224	genome.wustl.edu	37	14	69992774	69992774	+	Missense_Mutation	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:69992774C>A	ENST00000322564.7	+	9	1070	c.858C>A	c.(856-858)agC>agA	p.S286R		NM_001161498.1	NP_001154970.1	A6NEE1	PLHD1_HUMAN	pleckstrin homology domain containing, family D (with coiled-coil domains) member 1	286										breast(1)|endometrium(1)|kidney(2)	4						GCCTCCATAGCAACCTCCGGC	0.582																																																	0													34.0	42.0	40.0					14																	69992774		692	1591	2283	SO:0001583	missense	400224			AK126770	CCDS53903.1	14q24.1	2013-01-10	2011-05-04		ENSG00000175985	ENSG00000175985		"""Pleckstrin homology (PH) domain containing"""	20148	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family D (with M protein repeats) member 1"""				Standard	NM_001161498		Approved	UPF0639	uc010ttf.1	A6NEE1		ENST00000322564.7:c.858C>A	14.37:g.69992774C>A	ENSP00000317175:p.Ser286Arg		B9EJC2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S286R	ENST00000322564.7	37	c.858	CCDS53903.1	14	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508110	0.27036	.	.	ENSG00000175985	ENST00000322564	.	.	.	5.21	2.66	0.31614	.	0.309039	0.35936	N	0.002888	T	0.25232	0.0613	N	0.19112	0.55	0.27196	N	0.960288	B	0.14438	0.01	B	0.12156	0.007	T	0.16012	-1.0417	8	.	.	.	-12.2894	10.5728	0.45211	0.0:0.806:0.0:0.194	.	286	B9EJC2	.	R	286	.	.	S	+	3	2	PLEKHD1	69062527	1.000000	0.71417	0.998000	0.56505	0.836000	0.47400	1.641000	0.37197	0.496000	0.27904	0.561000	0.74099	AGC	PLEKHD1	-	NULL		0.582	PLEKHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHD1	HGNC	protein_coding	OTTHUMT00000412451.2	C	NM_001161498		69992774	+1	no_errors	ENST00000322564	ensembl	human	known	70_37	missense	SNP	0.922	A
PLEKHH3	79990	genome.wustl.edu	37	17	40823481	40823481	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:40823481G>A	ENST00000591022.1	-	8	1559	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.S391L|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.S391L	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	391	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CTCCGCCAGCGAGGGCACCAG	0.677																																																	0													29.0	27.0	28.0					17																	40823481		2202	4299	6501	SO:0001583	missense	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1172C>T	17.37:g.40823481G>A	ENSP00000468678:p.Ser391Leu		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.S391L	ENST00000591022.1	37	c.1172	CCDS11434.1	17	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864565	0.91511	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	D;D	0.93189	-3.18;-3.18	4.7	4.7	0.59300	MyTH4 domain (2);	0.000000	0.38272	N	0.001760	D	0.96568	0.8880	M	0.81341	2.54	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.71414	0.954;0.973	D	0.97261	0.9904	10	0.72032	D	0.01	-21.6602	17.2756	0.87114	0.0:0.0:1.0:0.0	.	391;391	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	L	53;391;391	ENSP00000293349:S391L;ENSP00000411885:S391L	ENSP00000293349:S391L	S	-	2	0	PLEKHH3	38077007	1.000000	0.71417	0.078000	0.20375	0.643000	0.38383	7.843000	0.86859	2.166000	0.68216	0.561000	0.74099	TCG	PLEKHH3	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom		0.677	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	G	NM_024927		40823481	-1	no_errors	ENST00000591022	ensembl	human	known	70_37	missense	SNP	0.980	A
PLEKHM1P	440456	genome.wustl.edu	37	17	62776322	62776322	+	RNA	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:62776322G>A	ENST00000582986.1	-	0	5014				hsa-mir-6080_ENST00000400873.3_RNA	NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										AGCGTTCCTCGACTAGGAAAG	0.627																																																	0																																												440456					17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62776322G>A				RNA	SNP	-	NULL	ENST00000582986.1	37	NULL		17																																																																																			PLEKHM1P	-	-		0.627	PLEKHM1P-002	KNOWN	basic	processed_transcript	PLEKHM1P	HGNC	pseudogene	OTTHUMT00000445598.1	G	NR_024386		62776322	-1	no_errors	ENST00000578036	ensembl	human	known	70_37	rna	SNP	0.000	A
PLK3	1263	genome.wustl.edu	37	1	45267370	45267370	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:45267370C>T	ENST00000372201.4	+	4	751	c.512C>T	c.(511-513)tCt>tTt	p.S171F	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAGATCCTTTCTGGCCTCAAG	0.632																																																	0													81.0	82.0	82.0					1																	45267370		2203	4300	6503	SO:0001583	missense	1263			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.512C>T	1.37:g.45267370C>T	ENSP00000361275:p.Ser171Phe		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.S171F	ENST00000372201.4	37	c.512	CCDS515.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676862	0.88445	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.67698	-0.28	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.78201	0.4246	M	0.81112	2.525	0.80722	D	1	B	0.33299	0.407	P	0.46208	0.507	T	0.81077	-0.1096	9	0.72032	D	0.01	-17.3619	17.0126	0.86410	0.0:1.0:0.0:0.0	.	171	Q9H4B4	PLK3_HUMAN	F	171;146	ENSP00000361275:S171F	ENSP00000361275:S171F	S	+	2	0	PLK3	45039957	1.000000	0.71417	0.950000	0.38849	0.536000	0.34869	7.811000	0.86092	2.269000	0.75478	0.549000	0.68633	TCT	PLK3	-	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		0.632	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	HGNC	protein_coding	OTTHUMT00000023429.1	C	NM_004073		45267370	+1	no_errors	ENST00000372201	ensembl	human	known	70_37	missense	SNP	1.000	T
PLXNA1	5361	genome.wustl.edu	37	3	126733396	126733396	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:126733396G>A	ENST00000393409.2	+	12	2680	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E871K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	894	IPT/TIG 1.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGCGATTCGAAGACGTGCG	0.677																																																	0													73.0	75.0	74.0					3																	126733396		2202	4300	6502	SO:0001583	missense	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2680G>A	3.37:g.126733396G>A	ENSP00000377061:p.Glu894Lys			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E894K	ENST00000393409.2	37	c.2680	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	9.791	1.177911	0.21787	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.77620	-1.11;-1.11	3.78	3.78	0.43462	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.203911	0.32161	N	0.006499	T	0.65217	0.2670	N	0.21373	0.66	0.49687	D	0.999819	B	0.15719	0.014	B	0.18263	0.021	T	0.60291	-0.7292	10	0.20046	T	0.44	.	16.1821	0.81915	0.0:0.0:1.0:0.0	.	894	Q9UIW2	PLXA1_HUMAN	K	894;871	ENSP00000377061:E894K;ENSP00000251772:E871K	ENSP00000251772:E871K	E	+	1	0	PLXNA1	128216086	1.000000	0.71417	0.959000	0.39883	0.048000	0.14542	3.416000	0.52707	2.125000	0.65367	0.484000	0.47621	GAA	PLXNA1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.677	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	G	NM_032242		126733396	+1	no_errors	ENST00000393409	ensembl	human	known	70_37	missense	SNP	0.983	A
PMFBP1	83449	genome.wustl.edu	37	16	72198702	72198702	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:72198702G>A	ENST00000237353.10	-	3	387	c.126C>T	c.(124-126)gaC>gaT	p.D42D	PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000537465.1_Silent_p.D42D|PMFBP1_ENST00000355636.6_5'UTR	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	42						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGAGCTGATTGTCCTGCAAGG	0.537																																																	0													132.0	110.0	118.0					16																	72198702		2198	4300	6498	SO:0001819	synonymous_variant	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.126C>T	16.37:g.72198702G>A			B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	NULL	p.D42	ENST00000237353.10	37	c.126	CCDS32483.1	16																																																																																			PMFBP1	-	NULL		0.537	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	G	NM_031293		72198702	-1	no_errors	ENST00000537465	ensembl	human	known	70_37	silent	SNP	0.982	A
PNPLA6	10908	genome.wustl.edu	37	19	7618874	7618874	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:7618874G>C	ENST00000221249.6	+	22	2691	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q	PNPLA6_ENST00000450331.3_Missense_Mutation_p.E754Q|PNPLA6_ENST00000545201.2_Missense_Mutation_p.E727Q|PNPLA6_ENST00000414982.3_Missense_Mutation_p.E802Q|PNPLA6_ENST00000600737.1_Missense_Mutation_p.E792Q	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	793					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTCACGCTGGAGCTGCAGCA	0.627																																																	0													60.0	48.0	52.0					19																	7618874		2203	4300	6503	SO:0001583	missense	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2260G>C	19.37:g.7618874G>C	ENSP00000221249:p.Glu754Gln		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E802Q	ENST00000221249.6	37	c.2404	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762212	0.89932	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.04809	3.56;3.59;3.55;3.56	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	M	0.82056	2.57	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	T	0.00768	-1.1574	10	0.72032	D	0.01	.	15.8966	0.79338	0.0:0.0:1.0:0.0	.	793;727;792;754	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	Q	754;727;802;754	ENSP00000221249:E754Q;ENSP00000443323:E727Q;ENSP00000407509:E802Q;ENSP00000394348:E754Q	ENSP00000221249:E754Q	E	+	1	0	PNPLA6	7524874	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.816000	0.99350	2.343000	0.79666	0.394000	0.25966	GAG	PNPLA6	-	NULL		0.627	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	G	NM_006702		7618874	+1	no_errors	ENST00000414982	ensembl	human	known	70_37	missense	SNP	1.000	C
PPAP2B	8613	genome.wustl.edu	37	1	56962088	56962089	+	3'UTR	INS	-	-	T	rs149661789		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:56962088_56962089insT	ENST00000371250.3	-	0	1621_1622				PPAP2B_ENST00000459962.1_5'Flank	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B						Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATAGTAAAACATTTTTTTTTTC	0.396																																																	0																																										SO:0001624	3_prime_UTR_variant	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.*135->A	1.37:g.56962098_56962098dupT			B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	RNA	INS	-	NULL	ENST00000371250.3	37	NULL	CCDS604.1	1																																																																																			PPAP2B	-	-		0.396	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2	-	NM_003713		56962089	-1	no_errors	ENST00000472957	ensembl	human	known	70_37	rna	INS	0.354:0.869	T
POGZ	23126	genome.wustl.edu	37	1	151381262	151381262	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:151381262G>A	ENST00000271715.2	-	13	2283	c.1969C>T	c.(1969-1971)Ctc>Ttc	p.L657F	POGZ_ENST00000361398.3_Missense_Mutation_p.L604F|POGZ_ENST00000540984.1_Missense_Mutation_p.L19F|POGZ_ENST00000491586.1_Missense_Mutation_p.L613F|POGZ_ENST00000368863.2_Missense_Mutation_p.L562F|POGZ_ENST00000392723.1_Missense_Mutation_p.L604F|POGZ_ENST00000409503.1_Missense_Mutation_p.L648F|POGZ_ENST00000531094.1_Missense_Mutation_p.L595F	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	657					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGGCAAAGAGAAACTGCAGC	0.423																																																	0													232.0	241.0	238.0					1																	151381262		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1969C>T	1.37:g.151381262G>A	ENSP00000271715:p.Leu657Phe		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.L657F	ENST00000271715.2	37	c.1969	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832500	0.71258	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586;ENST00000529669	T;T;T;T;T;T;T;T;T	0.61158	5.77;5.79;5.77;5.76;5.78;5.78;0.8;0.13;0.9	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000013	T	0.62768	0.2455	L	0.38838	1.175	0.51767	D	0.999939	D;D;D;D;D;D	0.89917	0.999;0.995;1.0;0.999;0.997;0.999	D;P;D;D;D;D	0.85130	0.994;0.878;0.997;0.994;0.991;0.994	T	0.65438	-0.6168	10	0.66056	D	0.02	-17.3332	17.4627	0.87624	0.0:0.0:1.0:0.0	.	595;648;562;613;604;657	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	F	604;657;604;562;648;595;19;613;57	ENSP00000376484:L604F;ENSP00000271715:L657F;ENSP00000354467:L604F;ENSP00000357856:L562F;ENSP00000386836:L648F;ENSP00000431259:L595F;ENSP00000443547:L19F;ENSP00000418408:L613F;ENSP00000432295:L57F	ENSP00000271715:L657F	L	-	1	0	POGZ	149647886	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.675000	0.54605	2.706000	0.92434	0.561000	0.74099	CTC	POGZ	-	smart_Znf_C2H2-like		0.423	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	G	NM_207171		151381262	-1	no_errors	ENST00000271715	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP1R12B	4660	genome.wustl.edu	37	1	202399874	202399874	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:202399874G>C	ENST00000608999.1	+	7	1090	c.937G>C	c.(937-939)Gag>Cag	p.E313Q	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.E313Q|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.E313Q|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.E313Q	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	313					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGTGAAAAGGAGACACGGAA	0.388																																																	0													111.0	104.0	107.0					1																	202399874		2203	4300	6503	SO:0001583	missense	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.937G>C	1.37:g.202399874G>C	ENSP00000476755:p.Glu313Gln		A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E313Q	ENST00000608999.1	37	c.937	CCDS1426.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.63|13.63	2.294344|2.294344	0.40594|0.40594	.|.	.|.	ENSG00000077157|ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764|ENST00000466968	T;T;T;T|.	0.70749|.	0.94;0.96;-0.51;-0.4|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Ankyrin repeat-containing domain (1);|.	0.101299|.	0.42821|.	D|.	0.000651|.	T|T	0.70307|0.70307	0.3209|0.3209	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	B;B;P;D|.	0.61080|.	0.041;0.451;0.476;0.989|.	B;B;B;P|.	0.54965|.	0.025;0.109;0.156;0.765|.	T|T	0.67845|0.67845	-0.5565|-0.5565	10|5	0.56958|.	D|.	0.05|.	.|.	15.1014|15.1014	0.72279|0.72279	0.0:0.1412:0.8588:0.0|0.0:0.1412:0.8588:0.0	.|.	313;313;313;313|.	O60237-2;O60237;F8W8M3;Q2TAI8|.	.;MYPT2_HUMAN;.;.|.	Q|A	313|108	ENSP00000384496:E313Q;ENSP00000337897:E313Q;ENSP00000417159:E313Q;ENSP00000349206:E313Q|.	ENSP00000337897:E313Q|.	E|G	+|+	1|2	0|0	PPP1R12B|PPP1R12B	200666497|200666497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.676000|4.676000	0.61627|0.61627	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GAG|GGA	PPP1R12B	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.388	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	G	NM_032105		202399874	+1	no_errors	ENST00000336894	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP1R26	9858	genome.wustl.edu	37	9	138377333	138377333	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:138377333G>A	ENST00000356818.2	+	4	1526	c.977G>A	c.(976-978)cGc>cAc	p.R326H	PPP1R26_ENST00000604351.1_Missense_Mutation_p.R326H|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R326H|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R326H|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R326H	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	326					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										ACCCCCTGCCGCCCTTCAGAA	0.622																																																	0													44.0	50.0	48.0					9																	138377333		2203	4300	6503	SO:0001583	missense	9858			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.977G>A	9.37:g.138377333G>A	ENSP00000349274:p.Arg326His		Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	NULL	p.R326H	ENST00000356818.2	37	c.977	CCDS6988.1	9	.	.	.	.	.	.	.	.	.	.	G	7.341	0.621001	0.14193	.	.	ENSG00000196422	ENST00000356818	T	0.11277	2.79	4.03	-4.17	0.03857	.	1.125910	0.06691	N	0.769656	T	0.04407	0.0121	N	0.04203	-0.255	0.09310	N	1	B	0.18310	0.027	B	0.15484	0.013	T	0.42882	-0.9425	10	0.40728	T	0.16	-2.1897	6.1443	0.20276	0.408:0.234:0.358:0.0	.	326	Q5T8A7	PPR26_HUMAN	H	326	ENSP00000349274:R326H	ENSP00000349274:R326H	R	+	2	0	KIAA0649	137517154	.	.	0.000000	0.03702	0.025000	0.11179	.	.	-0.846000	0.04174	-0.140000	0.14226	CGC	PPP1R26	-	NULL		0.622	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	G	NM_014811		138377333	+1	no_errors	ENST00000356818	ensembl	human	known	70_37	missense	SNP	0.000	A
PPP1R37	284352	genome.wustl.edu	37	19	45648494	45648494	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:45648494C>T	ENST00000221462.4	+	10	1636	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	PPP1R37_ENST00000421905.1_Silent_p.L420L	NM_019121.1	NP_061994.1	O75864	PPR37_HUMAN	protein phosphatase 1, regulatory subunit 37	424					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCCTGGACCTCGACCGTGAAC	0.662																																																	0																																										SO:0001819	synonymous_variant	284352			BC035704	CCDS56096.1	19q13.32	2012-04-17	2011-10-11	2011-10-11	ENSG00000104866	ENSG00000104866		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	27607	protein-coding gene	gene with protein product			"""leucine rich repeat containing 68"""	LRRC68		12477932	Standard	NM_019121		Approved		uc021uvs.1	O75864	OTTHUMG00000168143	ENST00000221462.4:c.1272C>T	19.37:g.45648494C>T			B5MDA4|Q8IWK3|Q8TF16	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L424	ENST00000221462.4	37	c.1272	CCDS56096.1	19																																																																																			PPP1R37	-	NULL		0.662	PPP1R37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R37	HGNC	protein_coding	OTTHUMT00000398356.2	C	NM_173634		45648494	+1	no_errors	ENST00000221462	ensembl	human	known	70_37	silent	SNP	0.003	T
PRAMEF18	391003	genome.wustl.edu	37	1	13475010	13475010	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:13475010C>T	ENST00000376126.2	-	3	1118	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	373					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGCGGCTCAGGGCAGGCA	0.562																																																	0													121.0	131.0	128.0					1																	13475010		2201	4297	6498	SO:0001819	synonymous_variant	391003					1p36.21	2013-01-17			ENSG00000204491			"""-"""	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1119G>A	1.37:g.13475010C>T				Silent	SNP	NULL	p.L373	ENST00000376126.2	37	c.1119	CCDS41258.1	1																																																																																			PRAMEF18	-	NULL		0.562	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PRAMEF18	HGNC	protein_coding	OTTHUMT00000008177.2	C	NM_001099850		13475010	-1	no_errors	ENST00000376126	ensembl	human	known	70_37	silent	SNP	0.955	T
PRKCA	5578	genome.wustl.edu	37	17	64685163	64685163	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:64685163G>A	ENST00000413366.3	+	8	942	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	306					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GCAGAAATTCGAGGTGAGGAT	0.443																																																	0													78.0	68.0	72.0					17																	64685163		2203	4300	6503	SO:0001583	missense	5578				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.916G>A	17.37:g.64685163G>A	ENSP00000408695:p.Glu306Lys		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.E306K	ENST00000413366.3	37	c.916	CCDS11664.1	17	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810554	0.70797	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.70631	-0.5	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.67534	0.2903	L	0.59436	1.845	0.80722	D	1	B;B	0.24092	0.011;0.097	B;B	0.21546	0.014;0.035	T	0.63686	-0.6581	10	0.15952	T	0.53	.	18.8283	0.92127	0.0:0.0:1.0:0.0	.	306;217	P17252;Q59FI5	KPCA_HUMAN;.	K	306;213	ENSP00000408695:E306K	ENSP00000284384:E213K	E	+	1	0	PRKCA	62115625	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.388000	0.97237	2.443000	0.82685	0.561000	0.74099	GAG	PRKCA	-	pirsf_Protein_kinase_C_a/b/g		0.443	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCA	HGNC	protein_coding	OTTHUMT00000446976.1	G			64685163	+1	no_errors	ENST00000413366	ensembl	human	known	70_37	missense	SNP	1.000	A
PRL	5617	genome.wustl.edu	37	6	22294655	22294655	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:22294655C>G	ENST00000306482.1	-	2	705	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	63					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CTGAACATTTCTGAGGAGAGG	0.552																																																	0													104.0	95.0	98.0					6																	22294655		2203	4300	6503	SO:0001583	missense	5617			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.187G>C	6.37:g.22294655C>G	ENSP00000302150:p.Glu63Gln		Q15199|Q92996	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.E63Q	ENST00000306482.1	37	c.187	CCDS4548.1	6	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697051	0.48202	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.89415	-2.51	6.04	5.18	0.71444	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.463208	0.27759	N	0.017970	D	0.86736	0.6004	L	0.53780	1.695	0.43230	D	0.995129	B;P	0.42584	0.24;0.784	B;P	0.48270	0.213;0.572	D	0.87518	0.2444	10	0.51188	T	0.08	-8.3497	15.3229	0.74135	0.0:0.9334:0.0:0.0666	.	63;64	P01236;Q5I0G2	PRL_HUMAN;.	Q	63;32	ENSP00000302150:E63Q	ENSP00000302150:E63Q	E	-	1	0	PRL	22402634	1.000000	0.71417	0.629000	0.29254	0.907000	0.53573	5.359000	0.66074	1.573000	0.49748	0.563000	0.77884	GAA	PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core		0.552	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	C	NM_000948		22294655	-1	no_errors	ENST00000306482	ensembl	human	known	70_37	missense	SNP	0.992	G
PRND	23627	genome.wustl.edu	37	20	4705593	4705593	+	Silent	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:4705593C>G	ENST00000305817.2	+	2	467	c.396C>G	c.(394-396)ctC>ctG	p.L132L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	132	Globular.				protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						AGCAGGTGCTCTGGCGGCTGG	0.612																																																	0													41.0	44.0	43.0					20																	4705593		2203	4300	6503	SO:0001819	synonymous_variant	23627			AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.396C>G	20.37:g.4705593C>G			A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom	p.L132	ENST00000305817.2	37	c.396	CCDS13081.1	20																																																																																			PRND	-	pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom		0.612	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRND	HGNC	protein_coding	OTTHUMT00000077827.2	C	NM_012409		4705593	+1	no_errors	ENST00000305817	ensembl	human	known	70_37	silent	SNP	0.324	G
PROP1	5626	genome.wustl.edu	37	5	177419783	177419783	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:177419783G>A	ENST00000308304.2	-	3	916	c.608C>T	c.(607-609)gCc>gTc	p.A203V		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	203					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGATGGCCGGCAGGGGCTGG	0.627																																																	0													36.0	35.0	36.0					5																	177419783		2203	4296	6499	SO:0001583	missense	5626			AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.608C>T	5.37:g.177419783G>A	ENSP00000311290:p.Ala203Val			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif	p.A203V	ENST00000308304.2	37	c.608	CCDS4430.1	5	.	.	.	.	.	.	.	.	.	.	.	7.457	0.643873	0.14451	.	.	ENSG00000175325	ENST00000308304	D	0.89617	-2.54	2.22	2.22	0.28083	.	1.086480	0.07320	N	0.877343	T	0.79540	0.4463	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.63310	-0.6666	10	0.12103	T	0.63	1.099	8.008	0.30336	0.0:0.0:1.0:0.0	.	203	O75360	PROP1_HUMAN	V	203	ENSP00000311290:A203V	ENSP00000311290:A203V	A	-	2	0	PROP1	177352389	0.068000	0.21057	0.032000	0.17829	0.004000	0.04260	1.391000	0.34475	1.576000	0.49790	0.563000	0.77884	GCC	PROP1	-	NULL		0.627	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROP1	HGNC	protein_coding	OTTHUMT00000253472.1	G	NM_006261		177419783	-1	no_errors	ENST00000308304	ensembl	human	known	70_37	missense	SNP	0.000	A
PRSS23	11098	genome.wustl.edu	37	11	86519623	86519623	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:86519623C>T	ENST00000280258.5	+	2	1363	c.938C>T	c.(937-939)cCa>cTa	p.P313L	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P281L	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	313						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GATGCCCAGCCAGGGGCCAGC	0.522																																																	0													77.0	85.0	82.0					11																	86519623		2201	4299	6500	SO:0001583	missense	11098			AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.938C>T	11.37:g.86519623C>T	ENSP00000280258:p.Pro313Leu		B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.P313L	ENST00000280258.5	37	c.938	CCDS8278.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434224	0.83776	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	T;T	0.52057	0.68;0.68	5.74	5.74	0.90152	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70726	-0.4793	9	.	.	.	-16.8349	19.9187	0.97077	0.0:1.0:0.0:0.0	.	281;313	B4E2J3;O95084	.;PRS23_HUMAN	L	313;281	ENSP00000280258:P313L;ENSP00000393015:P281L	.	P	+	2	0	PRSS23	86197271	1.000000	0.71417	0.968000	0.41197	0.876000	0.50452	7.395000	0.79876	2.710000	0.92621	0.563000	0.77884	CCA	PRSS23	-	superfamily_Pept_cys/ser_Trypsin-like		0.522	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS23	HGNC	protein_coding	OTTHUMT00000393805.2	C	NM_007173		86519623	+1	no_errors	ENST00000280258	ensembl	human	known	70_37	missense	SNP	1.000	T
PSIP1	11168	genome.wustl.edu	37	9	15510234	15510234	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:15510234G>C	ENST00000380733.4	-	0	296				PSIP1_ENST00000397519.2_De_novo_Start_OutOfFrame|PSIP1_ENST00000380715.1_De_novo_Start_OutOfFrame|PSIP1_ENST00000380716.4_De_novo_Start_OutOfFrame|PSIP1_ENST00000380738.4_De_novo_Start_OutOfFrame|PSIP1_ENST00000484265.1_5'UTR			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GCGGCGAGGAGATGCGGCGGC	0.711																																																	0													31.0	34.0	33.0					9																	15510234		2197	4294	6491			11168			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.-48C>G	9.37:g.15510234G>C			D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	RNA	SNP	-	NULL	ENST00000380733.4	37	NULL	CCDS6479.1	9																																																																																			PSIP1	-	-		0.711	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1	G	NM_033222		15510234	-1	no_errors	ENST00000463712	ensembl	human	known	70_37	rna	SNP	0.001	C
PTCHD2	57540	genome.wustl.edu	37	1	11579820	11579820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:11579820G>T	ENST00000294484.6	+	9	2221	c.2083G>T	c.(2083-2085)Gag>Tag	p.E695*	PTCHD2_ENST00000389575.3_Nonsense_Mutation_p.E695*	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	695					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGTGTCCCCCGAGGGTCTGCA	0.647																																																	0													74.0	87.0	83.0					1																	11579820		2120	4240	6360	SO:0001587	stop_gained	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2083G>T	1.37:g.11579820G>T	ENSP00000294484:p.Glu695*		Q5VTU9|Q9UJD6	Nonsense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.E695*	ENST00000294484.6	37	c.2083	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.881831	0.97062	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	.	.	.	5.38	2.44	0.29823	.	0.262939	0.37437	N	0.002084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-2.5786	6.718	0.23314	0.1494:0.2731:0.5775:0.0	.	.	.	.	X	695	.	ENSP00000294484:E695X	E	+	1	0	PTCHD2	11502407	0.003000	0.15002	0.002000	0.10522	0.272000	0.26649	0.354000	0.20146	0.231000	0.21079	0.555000	0.69702	GAG	PTCHD2	-	pfam_Patched		0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	G	XM_052561		11579820	+1	no_errors	ENST00000294484	ensembl	human	known	70_37	nonsense	SNP	0.007	T
PTGER4	5734	genome.wustl.edu	37	5	40681884	40681884	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:40681884C>T	ENST00000302472.3	+	2	1813	c.789C>T	c.(787-789)atC>atT	p.I263I		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	263					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TCCGCCGCATCGCGGGCGCCG	0.721																																																	0													18.0	21.0	20.0					5																	40681884		2104	4036	6140	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.789C>T	5.37:g.40681884C>T			Q3MJ87	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.I263	ENST00000302472.3	37	c.789	CCDS3930.1	5																																																																																			PTGER4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.721	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	C	NM_000958		40681884	+1	no_errors	ENST00000302472	ensembl	human	known	70_37	silent	SNP	0.845	T
PTPN13	5783	genome.wustl.edu	37	4	87638211	87638211	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:87638211C>T	ENST00000411767.2	+	9	1389	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	PTPN13_ENST00000427191.2_Silent_p.S442S|PTPN13_ENST00000316707.6_Silent_p.S442S|PTPN13_ENST00000511467.1_Silent_p.S442S|PTPN13_ENST00000436978.1_Silent_p.S442S			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	442					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGTTTGAATCCAGCAGTGGTC	0.393																																																	0													66.0	66.0	66.0					4																	87638211		1843	4096	5939	SO:0001819	synonymous_variant	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1326C>T	4.37:g.87638211C>T			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S442	ENST00000411767.2	37	c.1326	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13		0.393	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	C			87638211	+1	no_errors	ENST00000436978	ensembl	human	known	70_37	silent	SNP	1.000	T
PTX3	5806	genome.wustl.edu	37	3	157154774	157154774	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:157154774G>A	ENST00000295927.3	+	1	197	c.52G>A	c.(52-54)Gag>Aag	p.E18K	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	18					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGTGTTGGCCGAGAACTCGGA	0.473																																																	0													232.0	208.0	216.0					3																	157154774		2203	4300	6503	SO:0001583	missense	5806			X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.52G>A	3.37:g.157154774G>A	ENSP00000295927:p.Glu18Lys		B2R6T6|Q38M82	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_LamG-like,prints_Pentaxin	p.E18K	ENST00000295927.3	37	c.52	CCDS3180.1	3	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494002	0.64186	.	.	ENSG00000163661	ENST00000295927	T	0.08634	3.07	5.13	4.2	0.49525	.	1.000550	0.08063	N	0.998653	T	0.10465	0.0256	L	0.54323	1.7	0.19575	N	0.999968	D	0.55172	0.97	B	0.38106	0.265	T	0.26052	-1.0114	10	0.51188	T	0.08	-14.0049	11.9372	0.52880	0.0:0.299:0.701:0.0	.	18	P26022	PTX3_HUMAN	K	18	ENSP00000295927:E18K	ENSP00000295927:E18K	E	+	1	0	PTX3	158637468	0.940000	0.31905	0.126000	0.21872	0.991000	0.79684	1.519000	0.35888	2.396000	0.81511	0.561000	0.74099	GAG	PTX3	-	NULL		0.473	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTX3	HGNC	protein_coding	OTTHUMT00000352028.1	G	NM_002852		157154774	+1	no_errors	ENST00000295927	ensembl	human	known	70_37	missense	SNP	0.175	A
PTX4	390667	genome.wustl.edu	37	16	1536174	1536174	+	Silent	SNP	G	G	A	rs372576163		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:1536174G>A	ENST00000447419.2	-	3	1228	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	PTX4_ENST00000293922.1_Silent_p.L396L|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	401	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCCCAGCACGAGGGACCCTC	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		15302	0.0		0.0	False		,,,				2504	0.001																0								G		0,4398		0,0,2199	37.0	37.0	37.0		1188	-10.9	0.2	16		37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTX4	NM_001013658.1		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		396/474	1536174	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	390667				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1203C>T	16.37:g.1536174G>A				Silent	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.L401	ENST00000447419.2	37	c.1203		16																																																																																			PTX4	-	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.682	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	G	NM_001013658		1536174	-1	no_errors	ENST00000447419	ensembl	human	known	70_37	silent	SNP	0.657	A
PUS10	150962	genome.wustl.edu	37	2	61175312	61175312	+	Missense_Mutation	SNP	C	C	G	rs12479056	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:61175312C>G	ENST00000316752.6	-	16	1578	c.1317G>C	c.(1315-1317)aaG>aaC	p.K439N	PUS10_ENST00000407787.1_Missense_Mutation_p.K439N	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	439					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TCTGGTCGATTTTTAAGTCCT	0.537																																																	0													135.0	135.0	135.0					2																	61175312		2203	4300	6503	SO:0001583	missense	150962			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1317G>C	2.37:g.61175312C>G	ENSP00000326003:p.Lys439Asn		Q5JPJ5|Q96MI8	Missense_Mutation	SNP	superfamily_PsdUridine_synth_cat_dom	p.K439N	ENST00000316752.6	37	c.1317	CCDS1865.1	2																																																																																			PUS10	-	superfamily_PsdUridine_synth_cat_dom		0.537	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS10	HGNC	protein_coding	OTTHUMT00000251582.2	C	NM_144709		61175312	-1	no_errors	ENST00000316752	ensembl	human	known	70_37	missense	SNP	0.996	G
R3HDM4	91300	genome.wustl.edu	37	19	899468	899468	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:899468G>A	ENST00000361574.5	-	7	748	c.675C>T	c.(673-675)gtC>gtT	p.V225V	R3HDM4_ENST00000587975.1_Silent_p.V204V	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	225	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										TGTACTGGCAGACAGCGTGCA	0.677																																																	0													49.0	49.0	49.0					19																	899468		2203	4300	6503	SO:0001819	synonymous_variant	91300			BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 22"""	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.675C>T	19.37:g.899468G>A				Silent	SNP	pfscan_R3H_ss-bd	p.V225	ENST00000361574.5	37	c.675	CCDS12048.1	19																																																																																			R3HDM4	-	pfscan_R3H_ss-bd		0.677	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	R3HDM4	HGNC	protein_coding	OTTHUMT00000458209.1	G	NM_138774		899468	-1	no_errors	ENST00000361574	ensembl	human	known	70_37	silent	SNP	0.630	A
RAB11FIP1	80223	genome.wustl.edu	37	8	37732367	37732367	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:37732367C>T	ENST00000330843.4	-	3	1300	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.E430K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.E282K|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.E282K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	430					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTCCTGCTCTCTGGCTTCTTG	0.572																																																	0													101.0	93.0	96.0					8																	37732367		2203	4300	6503	SO:0001583	missense	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1288G>A	8.37:g.37732367C>T	ENSP00000331342:p.Glu430Lys		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E430K	ENST00000330843.4	37	c.1288	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304655	0.60305	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.38722	1.99;2.28;1.27;1.12	4.91	4.91	0.64330	.	0.184097	0.38217	N	0.001763	T	0.64897	0.2640	M	0.76002	2.32	0.50313	D	0.999863	D;D;D;D	0.71674	0.988;0.979;0.998;0.995	P;P;D;P	0.80764	0.696;0.747;0.994;0.78	T	0.64433	-0.6409	10	0.34782	T	0.22	-21.5083	18.1145	0.89546	0.0:1.0:0.0:0.0	.	282;282;430;430	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	K	430;430;282;282	ENSP00000287263:E430K;ENSP00000331342:E430K;ENSP00000430009:E282K;ENSP00000430680:E282K	ENSP00000287263:E430K	E	-	1	0	RAB11FIP1	37851525	1.000000	0.71417	0.999000	0.59377	0.125000	0.20455	5.985000	0.70556	2.264000	0.75181	0.563000	0.77884	GAG	RAB11FIP1	-	NULL		0.572	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	C	NM_025151		37732367	-1	no_errors	ENST00000330843	ensembl	human	known	70_37	missense	SNP	1.000	T
RABEP2	79874	genome.wustl.edu	37	16	28935744	28935744	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:28935744G>A	ENST00000358201.4	-	2	842	c.254C>T	c.(253-255)tCg>tTg	p.S85L	RABEP2_ENST00000357573.6_Missense_Mutation_p.S85L|RABEP2_ENST00000544477.1_Intron|RABEP2_ENST00000561803.1_5'UTR	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	85					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GGCCTGCAGCGAGGCCACCTC	0.612																																					Pancreas(66;639 1284 10093 31061 49099)												0													48.0	51.0	50.0					16																	28935744		2117	4241	6358	SO:0001583	missense	79874			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.254C>T	16.37:g.28935744G>A	ENSP00000350934:p.Ser85Leu			Missense_Mutation	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.S85L	ENST00000358201.4	37	c.254	CCDS42140.1	16	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089827	0.76756	.	.	ENSG00000177548	ENST00000358201;ENST00000357573	T;T	0.63913	-0.03;-0.07	4.29	4.29	0.51040	Rabaptin coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.99;0.998;0.994	T	0.79371	-0.1831	10	0.87932	D	0	-9.3564	15.91	0.79467	0.0:0.0:1.0:0.0	.	85;85;85	Q9H5N1-2;Q49AT6;Q9H5N1	.;.;RABE2_HUMAN	L	85	ENSP00000350934:S85L;ENSP00000350186:S85L	ENSP00000350186:S85L	S	-	2	0	RABEP2	28843245	1.000000	0.71417	0.951000	0.38953	0.953000	0.61014	8.906000	0.92626	2.106000	0.64143	0.555000	0.69702	TCG	RABEP2	-	pfam_Rabaptin_coiled-coil		0.612	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RABEP2	HGNC	protein_coding	OTTHUMT00000432691.1	G	NM_024816		28935744	-1	no_errors	ENST00000358201	ensembl	human	known	70_37	missense	SNP	0.994	A
RASSF2	9770	genome.wustl.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	C	T	rs369276882		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:4770300C>T	ENST00000379400.3	-	8	776	c.581G>A	c.(580-582)cGc>cAc	p.R194H	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R194H	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547																																					Melanoma(158;1891 3343 50738)												3	Substitution - Missense(3)	lung(2)|ovary(1)						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	160.0	139.0	146.0		581,581	5.0	1.0	20		146	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RASSF2	NM_014737.2,NM_170774.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	194/327,194/327	4770300	1,13005	2203	4300	6503	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.581G>A	20.37:g.4770300C>T	ENSP00000368710:p.Arg194His		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.R194H	ENST00000379400.3	37	c.581	CCDS13083.1	20	.	.	.	.	.	.	.	.	.	.	C	31	5.096093	0.94197	0.0	1.16E-4	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.18016	2.24;2.24	5.04	5.04	0.67666	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01972	-1.1237	10	0.15952	T	0.53	.	17.1313	0.86727	0.0:1.0:0.0:0.0	.	194	P50749	RASF2_HUMAN	H	194	ENSP00000368710:R194H;ENSP00000368684:R194H	ENSP00000368684:R194H	R	-	2	0	RASSF2	4718300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.604000	0.82830	2.622000	0.88805	0.655000	0.94253	CGC	RASSF2	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.547	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF2	HGNC	protein_coding	OTTHUMT00000077828.1	C	NM_014737		4770300	-1	no_errors	ENST00000379376	ensembl	human	known	70_37	missense	SNP	1.000	T
RBM3	5935	genome.wustl.edu	37	X	48434070	48434070	+	Intron	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:48434070C>T	ENST00000376759.3	+	3	273				RBM3_ENST00000430348.2_5'UTR|RBM3_ENST00000466764.1_Intron|RBM3_ENST00000354480.2_5'Flank|RBM3_ENST00000376755.1_Intron|AC115618.1_ENST00000376775.2_5'Flank	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3						positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						GGCCTCCTATCTGCAGAGGGA	0.577																																																	0													49.0	41.0	44.0					X																	48434070		2203	4300	6503	SO:0001627	intron_variant	5935			BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"""RNA binding motif (RRM) containing"""	9900	protein-coding gene	gene with protein product		300027	"""RNA binding motif protein 3"""			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.210+15C>T	X.37:g.48434070C>T				RNA	SNP	-	NULL	ENST00000376759.3	37	NULL	CCDS14301.1	X																																																																																			RBM3	-	-		0.577	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM3	HGNC	protein_coding	OTTHUMT00000060755.1	C	NM_006743		48434070	+1	no_errors	ENST00000485213	ensembl	human	known	70_37	rna	SNP	0.206	T
RBMX	27316	genome.wustl.edu	37	X	135961560	135961560	+	Missense_Mutation	SNP	C	C	G	rs80321628		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:135961560C>G	ENST00000320676.7	-	2	181	c.27G>C	c.(25-27)aaG>aaC	p.K9N	RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.K9N|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000562646.1_Missense_Mutation_p.K9N	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	9	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K9N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CAATGAAGAGCTTTCCTGGGC	0.413																																																	1	Substitution - Missense(1)	pancreas(1)											109.0	103.0	105.0					X																	135961560		2203	4300	6503	SO:0001583	missense	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.27G>C	X.37:g.135961560C>G	ENSP00000359645:p.Lys9Asn		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.K9N	ENST00000320676.7	37	c.27	CCDS14661.1	X	.	.	.	.	.	.	.	.	.	.	.	19.30	3.801463	0.70682	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	D;D	0.89050	-2.46;-2.46	4.66	3.78	0.43462	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	U	0.000000	D	0.88507	0.6455	L	0.56340	1.77	0.09310	P	0.9999999999999992	P;B;P	0.46656	0.882;0.278;0.868	P;B;B	0.50270	0.636;0.142;0.311	D	0.91729	0.5395	9	0.72032	D	0.01	.	8.8627	0.35267	0.0:0.7507:0.0:0.2493	.	9;9;9	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	N	9	ENSP00000411989:K9N;ENSP00000359645:K9N	ENSP00000359645:K9N	K	-	3	2	RBMX	135789226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.970000	0.29383	1.905000	0.55150	0.508000	0.49915	AAG	RBMX	-	smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.413	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	C	NM_002139		135961560	-1	no_errors	ENST00000320676	ensembl	human	known	70_37	missense	SNP	1.000	G
RBPMS	11030	genome.wustl.edu	37	8	30416465	30416465	+	Nonstop_Mutation	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:30416465G>T	ENST00000320203.4	+	7	1172	c.590G>T	c.(589-591)tGa>tTa	p.*197L	RBPMS_ENST00000397323.4_Nonstop_Mutation_p.*197L|RBPMS_ENST00000538486.1_Nonstop_Mutation_p.*154L|RBPMS_ENST00000287771.5_3'UTR	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	0					positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		CAGTTCTGCTGAATACTATGT	0.557																																																	0													103.0	100.0	101.0					8																	30416465		2203	4300	6503	SO:0001578	stop_lost	11030			D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.590G>T	8.37:g.30416465G>T	ENSP00000318102:p.*197Leuext*54		D3DSU9|Q92516|Q92517|Q92518|Q96J26	Nonstop_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.*197L	ENST00000320203.4	37	c.590	CCDS6077.1	8	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527260	0.44969	.	.	ENSG00000157110	ENST00000538486;ENST00000397323;ENST00000320203	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4473	0.87581	0.0:0.0:1.0:0.0	.	.	.	.	L	154;197;197	.	.	X	+	2	2	RBPMS	30536007	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.281000	0.58965	2.710000	0.92621	0.557000	0.71058	TGA	RBPMS	-	NULL		0.557	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RBPMS	HGNC	protein_coding	OTTHUMT00000376357.2	G			30416465	+1	no_errors	ENST00000320203	ensembl	human	known	70_37	nonstop	SNP	1.000	T
RGAG4	340526	genome.wustl.edu	37	X	71349694	71349694	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:71349694C>T	ENST00000545866.1	-	1	2064	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R566Q	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	566										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AACTCGAATTCGGCCACGAGC	0.617																																																	0													25.0	29.0	28.0					X																	71349694		1925	4123	6048	SO:0001583	missense	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1697G>A	X.37:g.71349694C>T	ENSP00000441366:p.Arg566Gln		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	pfam_Retrotrans_gag	p.R566Q	ENST00000545866.1	37	c.1697	CCDS55446.1	X	.	.	.	.	.	.	.	.	.	.	C	14.72	2.621138	0.46736	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.25579	1.79;1.79	4.05	3.18	0.36537	.	.	.	.	.	T	0.12263	0.0298	N	0.19112	0.55	0.09310	N	1	P	0.47106	0.89	B	0.34489	0.184	T	0.09143	-1.0688	8	.	.	.	-2.6177	6.583	0.22605	0.0:0.8688:0.0:0.1312	.	566	Q5HYW3	RGAG4_HUMAN	Q	566	ENSP00000441366:R566Q;ENSP00000418667:R566Q	.	R	-	2	0	RGAG4	71266419	0.867000	0.29959	0.149000	0.22428	0.945000	0.59286	0.955000	0.29188	1.070000	0.40811	0.292000	0.19580	CGA	RGAG4	-	NULL		0.617	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1	C	NM_001024455		71349694	-1	no_errors	ENST00000479991	ensembl	human	known	70_37	missense	SNP	0.107	T
RGL1	23179	genome.wustl.edu	37	1	183861279	183861279	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:183861279G>A	ENST00000360851.3	+	9	1302	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	RGL1_ENST00000536277.1_Missense_Mutation_p.R373Q|RGL1_ENST00000539189.1_Missense_Mutation_p.R375Q|RGL1_ENST00000304685.4_Missense_Mutation_p.R410Q			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	375	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TTGACCAGCCGAGAACTACTG	0.408																																																	0													83.0	78.0	79.0					1																	183861279		2203	4299	6502	SO:0001583	missense	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1124G>A	1.37:g.183861279G>A	ENSP00000354097:p.Arg375Gln		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R410Q	ENST00000360851.3	37	c.1229		1	.	.	.	.	.	.	.	.	.	.	g	35	5.584793	0.96578	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.25	5.25	0.73442	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.85296	0.5664	H	0.94886	3.595	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.947;1.0;1.0	D;D;P;D;D	0.85130	0.995;0.997;0.655;0.997;0.997	D	0.88512	0.3090	10	0.51188	T	0.08	.	18.8387	0.92172	0.0:0.0:1.0:0.0	.	375;373;180;375;410	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	Q	410;410;373;180;375;375	ENSP00000303192:R410Q;ENSP00000356501:R410Q;ENSP00000438662:R373Q;ENSP00000354097:R375Q;ENSP00000437355:R375Q	ENSP00000303192:R410Q	R	+	2	0	RGL1	182127902	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.484000	0.97940	2.427000	0.82271	0.558000	0.71614	CGA	RGL1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.408	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085742.1	G	NM_015149		183861279	+1	no_errors	ENST00000304685	ensembl	human	known	70_37	missense	SNP	1.000	A
RIBC1	158787	genome.wustl.edu	37	X	53457907	53457907	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:53457907C>T	ENST00000375327.3	+	8	1264	c.1111C>T	c.(1111-1113)Cac>Tac	p.H371Y	RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'Flank	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	371										lung(2)	2						AGCCCAGTATCACCAGCAGTT	0.478																																																	0													215.0	166.0	183.0					X																	53457907		2203	4300	6503	SO:0001583	missense	158787			AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.1111C>T	X.37:g.53457907C>T	ENSP00000364476:p.His371Tyr		B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	pfam_RIB43A	p.H371Y	ENST00000375327.3	37	c.1111	CCDS35299.1	X	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.469157	0.00169	.	.	ENSG00000158423	ENST00000375327	T	0.16743	2.32	5.32	-4.55	0.03441	.	0.502419	0.22600	N	0.057963	T	0.08891	0.0220	N	0.20986	0.625	0.26783	N	0.969567	B	0.06786	0.001	B	0.09377	0.004	T	0.14952	-1.0454	10	0.25106	T	0.35	-1.0585	10.7572	0.46243	0.1071:0.1773:0.0:0.7157	.	371	Q8N443	RIBC1_HUMAN	Y	371	ENSP00000364476:H371Y	ENSP00000364476:H371Y	H	+	1	0	RIBC1	53474632	0.026000	0.19158	0.000000	0.03702	0.192000	0.23643	-0.041000	0.12084	-1.995000	0.00971	-0.380000	0.06706	CAC	RIBC1	-	pfam_RIB43A		0.478	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RIBC1	HGNC	protein_coding	OTTHUMT00000056762.1	C	NM_144968		53457907	+1	no_errors	ENST00000375327	ensembl	human	known	70_37	missense	SNP	0.003	T
RIC8B	55188	genome.wustl.edu	37	12	107208551	107208551	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:107208551C>T	ENST00000392839.2	+	3	316	c.210C>T	c.(208-210)ctC>ctT	p.L70L	RIC8B_ENST00000355478.2_Silent_p.L30L|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392837.4_Silent_p.L70L	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	70					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TGGAAGTACTCCGCATTCTCT	0.403																																																	0													94.0	87.0	89.0					12																	107208551		2203	4300	6503	SO:0001819	synonymous_variant	55188			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.210C>T	12.37:g.107208551C>T			A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Silent	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.L70	ENST00000392839.2	37	c.210	CCDS9109.2	12																																																																																			RIC8B	-	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold		0.403	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	RIC8B	HGNC	protein_coding	OTTHUMT00000291398.2	C	NM_018157		107208551	+1	no_errors	ENST00000392837	ensembl	human	known	70_37	silent	SNP	1.000	T
RIF1	55183	genome.wustl.edu	37	2	152285401	152285401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:152285401G>A	ENST00000243326.5	+	8	1373	c.890G>A	c.(889-891)tGg>tAg	p.W297*	RIF1_ENST00000430328.2_Nonsense_Mutation_p.W297*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.W297*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.W297*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.W297*|RIF1_ENST00000433166.2_Nonsense_Mutation_p.W266*			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTTATTGCTTGGAAGAGTTTA	0.308																																																	0													63.0	64.0	64.0					2																	152285401		2203	4300	6503	SO:0001587	stop_gained	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.890G>A	2.37:g.152285401G>A	ENSP00000243326:p.Trp297*		A0AVS0|Q9NS16	Nonsense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.W297*	ENST00000243326.5	37	c.890	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.563922	0.96527	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1104	20.0512	0.97629	0.0:0.0:1.0:0.0	.	.	.	.	X	297;297;297;266;297;297	.	ENSP00000243326:W297X	W	+	2	0	RIF1	151993647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.447000	0.97595	2.847000	0.97988	0.591000	0.81541	TGG	RIF1	-	pfam_Rif1_N,superfamily_ARM-type_fold		0.308	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	G			152285401	+1	no_errors	ENST00000243326	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RLTPR	146206	genome.wustl.edu	37	16	67688566	67688566	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:67688566G>C	ENST00000334583.6	+	31	3881	c.3553G>C	c.(3553-3555)Gag>Cag	p.E1185Q	RLTPR_ENST00000545661.1_Missense_Mutation_p.E1149Q	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1185					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGCCGAGGAGGAGGCAACGCT	0.647																																																	0													27.0	32.0	30.0					16																	67688566		2070	4200	6270	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3553G>C	16.37:g.67688566G>C	ENSP00000334958:p.Glu1185Gln		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E1185Q	ENST00000334583.6	37	c.3553	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751656	0.69533	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.17370	2.3;2.28	5.99	5.99	0.97316	.	0.329212	0.26170	N	0.025933	T	0.19565	0.0470	N	0.24115	0.695	0.36259	D	0.8544	D;D	0.57899	0.981;0.981	P;P	0.48368	0.494;0.575	T	0.02539	-1.1144	10	0.54805	T	0.06	-6.1234	18.2659	0.90052	0.0:0.0:1.0:0.0	.	1149;1185	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	Q	1185;282;1149	ENSP00000334958:E1185Q;ENSP00000441481:E1149Q	ENSP00000334958:E1185Q	E	+	1	0	RLTPR	66246067	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	4.664000	0.61540	2.840000	0.97914	0.655000	0.94253	GAG	RLTPR	-	NULL		0.647	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	G	NM_001013838		67688566	+1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	1.000	C
RLTPR	146206	genome.wustl.edu	37	16	67688786	67688786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:67688786G>T	ENST00000334583.6	+	32	4016	c.3688G>T	c.(3688-3690)Gaa>Taa	p.E1230*	RLTPR_ENST00000545661.1_Nonsense_Mutation_p.E1194*	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1230					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.E1230K(1)|p.E1270K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CGGGGGTGCCGAAGGCAAGAG	0.577																																																	2	Substitution - Missense(2)	cervix(2)											40.0	48.0	45.0					16																	67688786		2176	4269	6445	SO:0001587	stop_gained	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3688G>T	16.37:g.67688786G>T	ENSP00000334958:p.Glu1230*		B8X2Z3	Nonsense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E1230*	ENST00000334583.6	37	c.3688	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	41	8.891411	0.98992	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	.	.	.	5.99	5.99	0.97316	.	0.107968	0.41605	D	0.000859	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.0323	18.6582	0.91462	0.0:0.0:1.0:0.0	.	.	.	.	X	1230;327;1194	.	ENSP00000334958:E1230X	E	+	1	0	RLTPR	66246287	1.000000	0.71417	0.944000	0.38274	0.555000	0.35460	5.788000	0.69020	2.840000	0.97914	0.655000	0.94253	GAA	RLTPR	-	NULL		0.577	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	G	NM_001013838		67688786	+1	no_errors	ENST00000334583	ensembl	human	known	70_37	nonsense	SNP	0.972	T
RNF11	26994	genome.wustl.edu	37	1	51737136	51737136	+	3'UTR	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:51737136G>A	ENST00000242719.3	+	0	1093				RNF11_ENST00000494873.1_3'UTR	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11						protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		large_intestine(1)	1						TGCAGATGTTGGGGGAAAAAG	0.358																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)																																								SO:0001624	3_prime_UTR_variant	26994			AB024703	CCDS556.1	1p32	2013-01-09			ENSG00000123091	ENSG00000123091		"""RING-type (C3HC4) zinc fingers"""	10056	protein-coding gene	gene with protein product		612598				10673045, 10810093	Standard	NM_014372		Approved	CGI-123, Sid1669p, MGC51169	uc001csi.4	Q9Y3C5	OTTHUMG00000008190	ENST00000242719.3:c.*142G>A	1.37:g.51737136G>A			A8KAI2|Q5T7R8	RNA	SNP	-	NULL	ENST00000242719.3	37	NULL	CCDS556.1	1																																																																																			RNF11	-	-		0.358	RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF11	HGNC	protein_coding	OTTHUMT00000022419.1	G	NM_014372		51737136	+1	no_errors	ENST00000486691	ensembl	human	putative	70_37	rna	SNP	1.000	A
RNF111	54778	genome.wustl.edu	37	15	59344533	59344533	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:59344533G>C	ENST00000557998.1	+	3	1197	c.910G>C	c.(910-912)Gaa>Caa	p.E304Q	RNF111_ENST00000559209.1_Missense_Mutation_p.E304Q|RNF111_ENST00000434298.1_Missense_Mutation_p.E304Q|RNF111_ENST00000561186.1_Missense_Mutation_p.E304Q|RNF111_ENST00000348370.4_Missense_Mutation_p.E304Q	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	304	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TGTGGTGATAGAAGCTTCCTC	0.383																																					NSCLC(72;983 1365 10746 34387 47081)												0													150.0	142.0	145.0					15																	59344533		2192	4291	6483	SO:0001583	missense	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.910G>C	15.37:g.59344533G>C	ENSP00000452732:p.Glu304Gln		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E304Q	ENST00000557998.1	37	c.910	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095202	0.56075	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.22134	1.97;1.97	5.6	4.67	0.58626	.	0.051907	0.85682	D	0.000000	T	0.22936	0.0554	L	0.47716	1.5	0.58432	D	0.999997	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.12837	0.008;0.003;0.008	T	0.03017	-1.1082	10	0.87932	D	0	-2.7418	15.8612	0.79021	0.0:0.0:0.8632:0.1368	.	304;304;304	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	Q	304	ENSP00000288199:E304Q;ENSP00000393641:E304Q	ENSP00000288199:E304Q	E	+	1	0	RNF111	57131825	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.829000	0.92055	1.334000	0.45468	-0.241000	0.12123	GAA	RNF111	-	NULL		0.383	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	G	NM_017610		59344533	+1	no_errors	ENST00000434298	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF121	55298	genome.wustl.edu	37	11	71705867	71705867	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:71705867G>C	ENST00000361756.3	+	7	1091	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	RNF121_ENST00000393713.3_Intron|RNF121_ENST00000545854.1_Missense_Mutation_p.E163Q|RNF121_ENST00000530137.1_Missense_Mutation_p.E212Q|RNF121_ENST00000533380.1_Missense_Mutation_p.E84Q	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	244						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GGGGATCATTGAGAACACGTA	0.517																																																	0													309.0	235.0	260.0					11																	71705867		2200	4293	6493	SO:0001583	missense	55298			AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.730G>C	11.37:g.71705867G>C	ENSP00000354571:p.Glu244Gln		B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E244Q	ENST00000361756.3	37	c.730	CCDS8203.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.332376	0.95733	.	.	ENSG00000137522	ENST00000361756;ENST00000533380;ENST00000545854;ENST00000530137	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.41166	0.1147	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.91635	0.894;0.999	T	0.04635	-1.0937	10	0.62326	D	0.03	-8.3539	19.3531	0.94398	0.0:0.0:1.0:0.0	.	212;244	G3V148;Q9H920	.;RN121_HUMAN	Q	244;84;163;212	ENSP00000354571:E244Q;ENSP00000433574:E84Q;ENSP00000443799:E163Q;ENSP00000431286:E212Q	ENSP00000354571:E244Q	E	+	1	0	RNF121	71383515	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.093000	0.94163	2.941000	0.99782	0.655000	0.94253	GAG	RNF121	-	smart_Znf_RING,pfscan_Znf_RING		0.517	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF121	HGNC	protein_coding	OTTHUMT00000347132.1	G	NM_018320		71705867	+1	no_errors	ENST00000361756	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF220	55182	genome.wustl.edu	37	1	45115372	45115372	+	Silent	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:45115372G>C	ENST00000355387.2	+	13	1935	c.1485G>C	c.(1483-1485)ctG>ctC	p.L495L	RNF220_ENST00000361799.2_Silent_p.L495L|RNF220_ENST00000372247.2_Silent_p.L495L|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000443020.2_Silent_p.L282L|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_3'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	495					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TTGAGGCTCTGAAGGCTCGGG	0.522																																																	0													146.0	138.0	141.0					1																	45115372		2203	4300	6503	SO:0001819	synonymous_variant	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1485G>C	1.37:g.45115372G>C			B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.L495	ENST00000355387.2	37	c.1485	CCDS510.1	1																																																																																			RNF220	-	superfamily_Peptidase_M20_dimer		0.522	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	G	NM_018150		45115372	+1	no_errors	ENST00000355387	ensembl	human	known	70_37	silent	SNP	1.000	C
RNF43	54894	genome.wustl.edu	37	17	56434537	56434537	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:56434537G>A	ENST00000584437.1	-	8	4264				BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Intron|RNF43_ENST00000577625.1_Intron|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000577716.1_Intron|RNF43_ENST00000581868.1_Missense_Mutation_p.S740L			Q68DV7	RNF43_HUMAN	ring finger protein 43						negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ttacaggcatgagccatcaca	0.567																																																	0																																										SO:0001627	intron_variant	54894				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2308+291C>T	17.37:g.56434537G>A			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S740L	ENST00000584437.1	37	c.2219	CCDS11607.1	17																																																																																			RNF43	-	NULL		0.567	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	G	NM_017763		56434537	-1	no_errors	ENST00000581868	ensembl	human	putative	70_37	missense	SNP	0.027	A
RP2	6102	genome.wustl.edu	37	X	46719528	46719528	+	Missense_Mutation	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:46719528C>A	ENST00000218340.3	+	3	1035	c.874C>A	c.(874-876)Ctg>Atg	p.L292M		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	292					cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CCTTCCTCTTCTGAACAAAGG	0.378																																																	0													82.0	72.0	76.0					X																	46719528		2203	4300	6503	SO:0001583	missense	6102			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.874C>A	X.37:g.46719528C>A	ENSP00000218340:p.Leu292Met		Q86XJ7|Q9NU67	Missense_Mutation	SNP	pfam_Tubulin-bd_cofactor_C,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2	p.L292M	ENST00000218340.3	37	c.874	CCDS14270.1	X	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938826	0.34189	.	.	ENSG00000102218	ENST00000218340	T	0.74842	-0.88	4.65	-0.141	0.13452	.	0.486734	0.20725	N	0.086838	T	0.63105	0.2483	L	0.47716	1.5	0.29331	N	0.866685	P	0.43542	0.81	B	0.41510	0.359	T	0.58962	-0.7543	10	0.45353	T	0.12	-6.5604	6.6325	0.22865	0.0:0.4317:0.3863:0.182	.	292	O75695	XRP2_HUMAN	M	292	ENSP00000218340:L292M	ENSP00000218340:L292M	L	+	1	2	RP2	46604472	0.999000	0.42202	0.926000	0.36857	0.931000	0.56810	0.909000	0.28558	-0.158000	0.11040	-0.172000	0.13284	CTG	RP2	-	superfamily_Nucleoside_diP_kinase,pirsf_Protein_XRP2		0.378	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP2	HGNC	protein_coding	OTTHUMT00000056375.1	C	NM_006915		46719528	+1	no_errors	ENST00000218340	ensembl	human	known	70_37	missense	SNP	0.921	A
RP9	6100	genome.wustl.edu	37	7	33136969	33136969	+	Missense_Mutation	SNP	G	G	T	rs367979669		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:33136969G>T	ENST00000297157.3	-	4	336	c.319C>A	c.(319-321)Cgt>Agt	p.R107S		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	107	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			CGTTTGCAACGCCAACCTAAA	0.363																																																	0													71.0	68.0	69.0					7																	33136969		2203	4300	6503	SO:0001583	missense	6100			AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.319C>A	7.37:g.33136969G>T	ENSP00000297157:p.Arg107Ser			Missense_Mutation	SNP	NULL	p.R107S	ENST00000297157.3	37	c.319	CCDS5440.1	7	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212177	0.58452	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	D;D	0.82803	-1.65;-1.65	3.77	2.87	0.33458	Zinc finger, CCHC-type (1);	0.000000	0.85682	D	0.000000	D	0.86802	0.6020	M	0.76727	2.345	0.47308	D	0.99938	D	0.59357	0.985	P	0.60236	0.871	D	0.85624	0.1266	10	0.87932	D	0	-43.348	6.245	0.20811	0.1038:0.0:0.5936:0.3026	.	107	Q8TA86	RP9_HUMAN	S	107;73	ENSP00000297157:R107S;ENSP00000411577:R73S	ENSP00000297157:R107S	R	-	1	0	RP9	33103494	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.091000	0.57700	0.864000	0.35578	0.400000	0.26472	CGT	RP9	-	NULL		0.363	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP9	HGNC	protein_coding	OTTHUMT00000328914.1	G	NM_203288		33136969	-1	no_errors	ENST00000297157	ensembl	human	known	70_37	missense	SNP	1.000	T
RRM1	6240	genome.wustl.edu	37	11	4142936	4142936	+	Missense_Mutation	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:4142936G>T	ENST00000300738.5	+	10	1183	c.979G>T	c.(979-981)Gat>Tat	p.D327Y	RRM1_ENST00000534285.1_Missense_Mutation_p.D105Y|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000423050.2_Missense_Mutation_p.D230Y|RRM1_ENST00000537197.1_5'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	327					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GCGTGCCAGAGATCTTTTCTT	0.423																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)												0													117.0	124.0	122.0					11																	4142936		2201	4298	6499	SO:0001583	missense	6240			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.979G>T	11.37:g.4142936G>T	ENSP00000300738:p.Asp327Tyr		Q9UNN2	Missense_Mutation	SNP	pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA	p.D327Y	ENST00000300738.5	37	c.979	CCDS7750.1	11	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684537	0.88639	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838	T;T;T	0.48201	0.82;0.82;0.82	5.4	5.4	0.78164	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81823	0.4904	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89155	0.3526	10	0.87932	D	0	-20.123	18.1585	0.89701	0.0:0.0:1.0:0.0	.	327	P23921	RIR1_HUMAN	Y	327;230;240;105;105	ENSP00000300738:D327Y;ENSP00000390539:D230Y;ENSP00000431464:D105Y	ENSP00000300738:D327Y	D	+	1	0	RRM1	4099512	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.509000	0.84616	0.650000	0.86243	GAT	RRM1	-	pfam_RNR_lg_C,tigrfam_NrdE_NrdA		0.423	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM1	HGNC	protein_coding	OTTHUMT00000257197.1	G	NM_001033		4142936	+1	no_errors	ENST00000300738	ensembl	human	known	70_37	missense	SNP	1.000	T
RTEL1	51750	genome.wustl.edu	37	20	62320895	62320895	+	Missense_Mutation	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:62320895G>T	ENST00000360203.5	+	23	2244	c.1919G>T	c.(1918-1920)gGt>gTt	p.G640V	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.G640V|RTEL1_ENST00000370003.1_5'Flank|RTEL1_ENST00000318100.4_Missense_Mutation_p.G640V|RTEL1_ENST00000508582.2_Missense_Mutation_p.G664V|RTEL1_ENST00000370018.3_Missense_Mutation_p.G640V					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AATGGCCGTGGTGTGATTGTC	0.667																																																	0													43.0	38.0	40.0					20																	62320895		2194	4287	6481	SO:0001583	missense	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1919G>T	20.37:g.62320895G>T	ENSP00000353332:p.Gly640Val			Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.G640V	ENST00000360203.5	37	c.1919		20	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221077	0.58560	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	4.76	4.76	0.60689	Helicase, ATP-dependent, c2 type (1);	0.055425	0.64402	D	0.000001	T	0.80465	0.4628	M	0.66506	2.035	0.80722	D	1	D;D;P	0.71674	0.998;0.988;0.864	D;D;P	0.76575	0.988;0.933;0.79	T	0.81906	-0.0718	10	0.56958	D	0.05	-17.5546	17.5347	0.87825	0.0:0.0:1.0:0.0	.	664;640;640	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	V	640;640;664;640	ENSP00000359035:G640V;ENSP00000322287:G640V;ENSP00000424307:G664V;ENSP00000353332:G640V	ENSP00000353332:G640V	G	+	2	0	AL353715.1	61791339	1.000000	0.71417	0.566000	0.28421	0.592000	0.36648	5.019000	0.64060	2.473000	0.83533	0.563000	0.77884	GGT	RTEL1	-	smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3		0.667	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	G	NM_032957		62320895	+1	no_errors	ENST00000318100	ensembl	human	known	70_37	missense	SNP	0.846	T
RTTN	25914	genome.wustl.edu	37	18	67857917	67857917	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:67857917G>C	ENST00000255674.6	-	9	1332	c.1046C>G	c.(1045-1047)tCc>tGc	p.S349C	RTTN_ENST00000437017.1_Missense_Mutation_p.S349C|RTTN_ENST00000454359.1_Missense_Mutation_p.S349C	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	349					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGAATGAACGGATATCCTGGA	0.418																																																	0													125.0	122.0	123.0					18																	67857917		1927	4156	6083	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1046C>G	18.37:g.67857917G>C	ENSP00000255674:p.Ser349Cys		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S349C	ENST00000255674.6	37	c.1046	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983674	0.53827	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.71698	0.14;-0.01;-0.59	5.24	5.24	0.73138	Armadillo-type fold (1);	0.200917	0.44483	D	0.000456	D	0.83110	0.5183	M	0.64997	1.995	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	D	0.84821	0.0796	10	0.87932	D	0	.	18.8383	0.92171	0.0:0.0:1.0:0.0	.	349;349	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	C	349	ENSP00000255674:S349C;ENSP00000402352:S349C;ENSP00000399520:S349C	ENSP00000255674:S349C	S	-	2	0	RTTN	66008897	0.990000	0.36364	0.054000	0.19295	0.574000	0.36063	4.066000	0.57520	2.440000	0.82611	0.655000	0.94253	TCC	RTTN	-	superfamily_ARM-type_fold		0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67857917	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	missense	SNP	0.844	C
RYR1	6261	genome.wustl.edu	37	19	38973965	38973965	+	Silent	SNP	C	C	T	rs370041876	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:38973965C>T	ENST00000359596.3	+	33	4743	c.4743C>T	c.(4741-4743)agC>agT	p.S1581S	RYR1_ENST00000360985.3_Silent_p.S1581S|RYR1_ENST00000355481.4_Silent_p.S1581S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1581	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGTTCCAAAGCGAGCGCAAGA	0.627													C|||	4	0.000798722	0.0023	0.0	5008	,	,		16214	0.0		0.0	False		,,,				2504	0.001																0								C	,	3,4363		0,3,2180	15.0	12.0	13.0		4743,4743	-5.9	0.9	19		13	0,8540		0,0,4270	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,3,6450	TT,TC,CC		0.0,0.0687,0.0232	,	1581/5039,1581/5034	38973965	3,12903	2183	4270	6453	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4743C>T	19.37:g.38973965C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.S1581	ENST00000359596.3	37	c.4743	CCDS33011.1	19																																																																																			RYR1	-	NULL		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			38973965	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	0.906	T
RYR3	6263	genome.wustl.edu	37	15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:34130561C>T	ENST00000389232.4	+	89	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4127					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAGAAATTGCGGGTGAAGAG	0.483																																																	0													144.0	143.0	143.0					15																	34130561		1889	4100	5989	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12380C>T	15.37:g.34130561C>T	ENSP00000373884:p.Ala4127Val		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.A4127V	ENST00000389232.4	37	c.12380	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	0.146	-1.097237	0.01843	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.96619	-4.07	5.8	2.07	0.26955	.	0.644280	0.15045	N	0.283606	D	0.91526	0.7324	L	0.41492	1.28	0.09310	N	1	B;B	0.15141	0.001;0.012	B;B	0.10450	0.002;0.005	T	0.83074	-0.0141	10	0.45353	T	0.12	.	3.025	0.06087	0.3072:0.4573:0.0931:0.1424	.	4122;4127	Q15413-2;Q15413	.;RYR3_HUMAN	V	4127;4123	ENSP00000373884:A4127V	ENSP00000354735:A4123V	A	+	2	0	RYR3	31917853	1.000000	0.71417	0.071000	0.20095	0.022000	0.10575	1.429000	0.34903	0.470000	0.27294	-1.461000	0.01025	GCG	RYR3	-	superfamily_ARM-type_fold		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			34130561	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	0.001	T
SACS	26278	genome.wustl.edu	37	13	23907900	23907900	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:23907900G>A	ENST00000382292.3	-	9	10388	c.10115C>T	c.(10114-10116)tCa>tTa	p.S3372L	SACS_ENST00000402364.1_Missense_Mutation_p.S2622L|SACS_ENST00000382298.3_Missense_Mutation_p.S3372L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3372					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTAAATGTTGAAGTTTGGAC	0.348																																																	0													75.0	73.0	74.0					13																	23907900		2203	4299	6502	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10115C>T	13.37:g.23907900G>A	ENSP00000371729:p.Ser3372Leu		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.S3372L	ENST00000382292.3	37	c.10115	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684187	0.68157	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87966	-2.18;-2.32;-2.18	5.94	5.94	0.96194	.	0.068069	0.64402	D	0.000009	T	0.79868	0.4520	L	0.27053	0.805	0.49915	D	0.999838	P	0.43094	0.799	B	0.35039	0.194	T	0.78127	-0.2325	10	0.24483	T	0.36	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	3372	Q9NZJ4	SACS_HUMAN	L	3372;2622;3372	ENSP00000371729:S3372L;ENSP00000385844:S2622L;ENSP00000371735:S3372L	ENSP00000371729:S3372L	S	-	2	0	SACS	22805900	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.869000	0.99810	2.826000	0.97356	0.561000	0.74099	TCA	SACS	-	NULL		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	G	NM_014363		23907900	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	missense	SNP	1.000	A
SAFB	6294	genome.wustl.edu	37	19	5667852	5667852	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:5667852G>C	ENST00000292123.5	+	20	2680	c.2573G>C	c.(2572-2574)gGt>gCt	p.G858A	SAFB_ENST00000454510.1_Missense_Mutation_p.G791A|SAFB_ENST00000588852.1_Missense_Mutation_p.G860A|SAFB_ENST00000592224.1_Missense_Mutation_p.G859A|SAFB_ENST00000433404.1_Missense_Mutation_p.G690A|SAFB_ENST00000538656.1_Missense_Mutation_p.G702A	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	858	Gly-rich.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AGCATGTCCGGTCACTCCGGG	0.607																																					Colon(88;338 1345 6184 8214 20897)												0													76.0	67.0	70.0					19																	5667852		2203	4300	6503	SO:0001583	missense	6294			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2573G>C	19.37:g.5667852G>C	ENSP00000292123:p.Gly858Ala		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.G860A	ENST00000292123.5	37	c.2579	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382662	0.61845	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.15256	2.61;2.68;2.73;2.44	5.11	5.11	0.69529	.	0.000000	0.50627	D	0.000114	T	0.40040	0.1101	M	0.64997	1.995	0.48571	D	0.999672	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.87578	0.995;0.995;0.998;0.995;0.995;0.995;0.995	T	0.15321	-1.0441	10	0.72032	D	0.01	-21.6193	15.6348	0.76944	0.0:0.0:1.0:0.0	.	659;702;791;857;860;858;859	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	A	791;755;690;858;702	ENSP00000415895:G791A;ENSP00000404545:G690A;ENSP00000292123:G858A;ENSP00000438880:G702A	ENSP00000292123:G858A	G	+	2	0	SAFB	5618852	1.000000	0.71417	0.987000	0.45799	0.793000	0.44817	3.343000	0.52167	2.541000	0.85698	0.557000	0.71058	GGT	SAFB	-	NULL		0.607	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	G			5667852	+1	no_errors	ENST00000588852	ensembl	human	known	70_37	missense	SNP	1.000	C
SAG	6295	genome.wustl.edu	37	2	234229394	234229394	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:234229394C>T	ENST00000409110.1	+	5	530	c.300C>T	c.(298-300)gcC>gcT	p.A100A	SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	100					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CTGTGGGGGCCGCGAGCACCC	0.612																																																	0													30.0	33.0	32.0					2																	234229394		1950	4145	6095	SO:0001819	synonymous_variant	6295				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.300C>T	2.37:g.234229394C>T			A0FDN6|Q53SV3|Q99858	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.A100	ENST00000409110.1	37	c.300	CCDS46545.1	2																																																																																			SAG	-	pfam_Arrestin-like_N,superfamily_Ig_E-set		0.612	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAG	HGNC	protein_coding	OTTHUMT00000330126.1	C	NM_000541		234229394	+1	no_errors	ENST00000409110	ensembl	human	known	70_37	silent	SNP	0.000	T
SAGE1	55511	genome.wustl.edu	37	X	134989157	134989157	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:134989157C>T	ENST00000370709.3	+	7	809	c.809C>T	c.(808-810)tCa>tTa	p.S270L	SAGE1_ENST00000324447.3_Missense_Mutation_p.S270L|SAGE1_ENST00000535938.1_Missense_Mutation_p.S270L|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	270						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AACATCTTGTCAACTGCTTCA	0.468																																																	0													145.0	119.0	127.0					X																	134989157		2203	4300	6503	SO:0001583	missense	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.809C>T	X.37:g.134989157C>T	ENSP00000359743:p.Ser270Leu		Q5JNW0	Missense_Mutation	SNP	NULL	p.S270L	ENST00000370709.3	37	c.809	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	-	12.45	1.940671	0.34283	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.54479	0.57;0.57;0.57	1.76	0.852	0.18995	.	0.166079	0.38548	U	0.001647	T	0.48352	0.1495	N	0.17082	0.46	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.30297	-0.9983	10	0.72032	D	0.01	.	3.6955	0.08362	0.0:0.7442:0.0:0.2558	.	270	Q9NXZ1	SAGE1_HUMAN	L	270	ENSP00000323191:S270L;ENSP00000445959:S270L;ENSP00000359743:S270L	ENSP00000323191:S270L	S	+	2	0	SAGE1	134816823	0.998000	0.40836	0.043000	0.18650	0.051000	0.14879	0.259000	0.18405	0.203000	0.20529	0.171000	0.16805	TCA	SAGE1	-	NULL		0.468	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	C	NM_018666		134989157	+1	no_errors	ENST00000324447	ensembl	human	known	70_37	missense	SNP	0.045	T
SAMD9	54809	genome.wustl.edu	37	7	92732753	92732753	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:92732753C>T	ENST00000379958.2	-	3	2927	c.2658G>A	c.(2656-2658)atG>atA	p.M886I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	886						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCATGATCATAAAGGAAT	0.323																																																	0													43.0	44.0	43.0					7																	92732753		2203	4299	6502	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2658G>A	7.37:g.92732753C>T	ENSP00000369292:p.Met886Ile		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.M886I	ENST00000379958.2	37	c.2658	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	16.73	3.202851	0.58234	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.28069	1.63;2.46	4.47	3.58	0.41010	.	0.125660	0.48767	U	0.000162	T	0.30230	0.0758	M	0.65975	2.015	0.35387	D	0.79042	P	0.37781	0.608	B	0.31290	0.127	T	0.50792	-0.8786	10	0.66056	D	0.02	-9.774	13.1224	0.59334	0.0:0.8373:0.1627:0.0	.	886	Q5K651	SAMD9_HUMAN	I	886	ENSP00000369292:M886I;ENSP00000414529:M886I	ENSP00000369292:M886I	M	-	3	0	SAMD9	92570689	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.476000	0.60216	1.077000	0.40990	0.609000	0.83330	ATG	SAMD9	-	NULL		0.323	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	C	NM_017654		92732753	-1	no_errors	ENST00000379958	ensembl	human	known	70_37	missense	SNP	1.000	T
SASS6	163786	genome.wustl.edu	37	1	100571329	100571329	+	Silent	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:100571329C>G	ENST00000287482.5	-	13	1679	c.1539G>C	c.(1537-1539)ctG>ctC	p.L513L	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.L346L	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	513					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TTACCACATTCAGGTTAGGAG	0.383																																																	0													156.0	141.0	146.0					1																	100571329		2203	4300	6503	SO:0001819	synonymous_variant	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1539G>C	1.37:g.100571329C>G			D3DT55|Q8N3K0	Silent	SNP	NULL	p.L513	ENST00000287482.5	37	c.1539	CCDS764.1	1																																																																																			SASS6	-	NULL		0.383	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	C	NM_194292		100571329	-1	no_errors	ENST00000287482	ensembl	human	known	70_37	silent	SNP	0.388	G
SBNO2	22904	genome.wustl.edu	37	19	1119543	1119543	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:1119543C>G	ENST00000361757.3	-	13	1582	c.1345G>C	c.(1345-1347)Gag>Cag	p.E449Q	SBNO2_ENST00000438103.2_Missense_Mutation_p.E392Q|SBNO2_ENST00000587024.1_Missense_Mutation_p.E449Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	449					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		AGGAACTCCTCAAAGTTCCGG	0.647																																																	0													30.0	33.0	32.0					19																	1119543		1951	4137	6088	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1345G>C	19.37:g.1119543C>G	ENSP00000354733:p.Glu449Gln		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	NULL	p.E449Q	ENST00000361757.3	37	c.1345	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959269	0.34565	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	D;D	0.94046	-3.34;-3.34	4.33	4.33	0.51752	.	0.581779	0.18439	N	0.141189	D	0.93562	0.7945	L	0.40543	1.245	0.34260	D	0.679843	D;B;D;P	0.61080	0.989;0.008;0.958;0.948	P;B;P;P	0.61722	0.893;0.044;0.816;0.72	D	0.93017	0.6437	10	0.17832	T	0.49	-18.8257	15.6124	0.76737	0.0:1.0:0.0:0.0	.	392;449;449;392	B4DL53;B4DV91;Q9Y2G9;Q9Y2G9-3	.;.;SBNO2_HUMAN;.	Q	449;392;473	ENSP00000354733:E449Q;ENSP00000400762:E392Q	ENSP00000250872:E473Q	E	-	1	0	SBNO2	1070543	1.000000	0.71417	0.937000	0.37676	0.027000	0.11550	5.478000	0.66806	2.247000	0.74100	0.558000	0.71614	GAG	SBNO2	-	NULL		0.647	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	C	NM_014963		1119543	-1	no_errors	ENST00000361757	ensembl	human	known	70_37	missense	SNP	1.000	G
SCAF11	9169	genome.wustl.edu	37	12	46322156	46322156	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:46322156G>A	ENST00000369367.3	-	11	1561	c.1328C>T	c.(1327-1329)tCt>tTt	p.S443F	SCAF11_ENST00000549162.1_Missense_Mutation_p.S251F|SCAF11_ENST00000419565.2_Missense_Mutation_p.S443F|SCAF11_ENST00000465950.1_Missense_Mutation_p.S128F	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	443					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GCAATTAGCAGACTGGTTTTC	0.388																																																	0													121.0	114.0	117.0					12																	46322156		2203	4300	6503	SO:0001583	missense	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1328C>T	12.37:g.46322156G>A	ENSP00000358374:p.Ser443Phe		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S443F	ENST00000369367.3	37	c.1328	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788817	0.70337	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.53423	1.28;2.0;1.27;2.0;0.62	6.08	4.98	0.66077	.	0.530450	0.19487	N	0.113087	T	0.46502	0.1396	L	0.27053	0.805	0.27260	N	0.958667	D;P	0.53462	0.96;0.933	P;P	0.51918	0.684;0.456	T	0.41466	-0.9507	10	0.66056	D	0.02	0.3418	12.7022	0.57041	0.0989:0.0:0.9011:0.0	.	251;443	F8VXG7;Q99590	.;SCAFB_HUMAN	F	128;443;251;443;383	ENSP00000449812:S128F;ENSP00000358374:S443F;ENSP00000448864:S251F;ENSP00000413036:S443F;ENSP00000446746:S383F	ENSP00000358374:S443F	S	-	2	0	SCAF11	44608423	1.000000	0.71417	0.556000	0.28293	0.739000	0.42172	5.145000	0.64839	1.237000	0.43756	0.591000	0.81541	TCT	SCAF11	-	NULL		0.388	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	G	NM_004719		46322156	-1	no_errors	ENST00000369367	ensembl	human	known	70_37	missense	SNP	0.986	A
ZBED9	114821	genome.wustl.edu	37	6	28540339	28540339	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:28540339G>A	ENST00000452236.2	-	4	3944	c.3327C>T	c.(3325-3327)ttC>ttT	p.F1109F		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						taaaaatactgaagatatcag	0.353																																																	0													59.0	61.0	61.0					6																	28540339		2197	4295	6492	SO:0001819	synonymous_variant	114821																														ENST00000452236.2:c.3327C>T	6.37:g.28540339G>A				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.F1109	ENST00000452236.2	37	c.3327	CCDS34355.1	6																																																																																			SCAND3	-	superfamily_RNaseH-like_dom		0.353	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	G			28540339	-1	no_errors	ENST00000452236	ensembl	human	known	70_37	silent	SNP	0.999	A
SCAF8	22828	genome.wustl.edu	37	6	155114064	155114064	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:155114064C>T	ENST00000367178.3	+	5	1005	c.429C>T	c.(427-429)gtC>gtT	p.V143V	SCAF8_ENST00000417268.1_Silent_p.V143V|SCAF8_ENST00000367186.4_Silent_p.V209V|SCAF8_ENST00000461219.1_3'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	143					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTCCAGTTGTCACACCTGTTT	0.398																																																	0													82.0	81.0	81.0					6																	155114064		2203	4300	6503	SO:0001819	synonymous_variant	22828			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.429C>T	6.37:g.155114064C>T			B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.V209	ENST00000367178.3	37	c.627	CCDS5247.1	6																																																																																			SCAF8	-	superfamily_ENTH_VHS		0.398	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	C	NM_014892		155114064	+1	no_errors	ENST00000367186	ensembl	human	known	70_37	silent	SNP	1.000	T
SCN4A	6329	genome.wustl.edu	37	17	62019319	62019319	+	Silent	SNP	G	G	A	rs372442108		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:62019319G>A	ENST00000435607.1	-	24	4399	c.4323C>T	c.(4321-4323)ttC>ttT	p.F1441F	SCN4A_ENST00000578147.1_Silent_p.F1441F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1441					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGGTGACACGAAGTACTTCT	0.677													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16081	0.0		0.0	False		,,,				2504	0.0																0								G		2,4370		0,2,2184	23.0	24.0	24.0		4323	0.9	1.0	17		24	0,8558		0,0,4279	no	coding-synonymous	SCN4A	NM_000334.4		0,2,6463	AA,AG,GG		0.0,0.0457,0.0155		1441/1837	62019319	2,12928	2186	4279	6465	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4323C>T	17.37:g.62019319G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.F1441	ENST00000435607.1	37	c.4323	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom		0.677	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		G	NM_000334		62019319	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	silent	SNP	1.000	A
SCNN1A	6337	genome.wustl.edu	37	12	6457040	6457040	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:6457040C>T	ENST00000228916.2	-	13	2107	c.2009G>A	c.(2008-2010)tGa>tAa	p.*670*	SCNN1A_ENST00000360168.3_Silent_p.*729*|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Silent_p.*693*|SCNN1A_ENST00000358945.3_Silent_p.*692*|SCNN1A_ENST00000540037.1_Silent_p.*370*	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	0					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCTTCCCTCTCAGGGCCCCCC	0.652																																																	0													8.0	8.0	8.0					12																	6457040		2055	4025	6080	SO:0001819	synonymous_variant	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.2009G>A	12.37:g.6457040C>T			A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.*692	ENST00000228916.2	37	c.2075	CCDS8543.1	12																																																																																			SCNN1A	-	NULL		0.652	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	C			6457040	-1	no_errors	ENST00000358945	ensembl	human	known	70_37	silent	SNP	0.992	T
SCNN1B	6338	genome.wustl.edu	37	16	23366649	23366649	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:23366649C>T	ENST00000343070.2	+	4	791	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SCNN1B_ENST00000568923.1_Intron|SCNN1B_ENST00000307331.5_Silent_p.F250F|SCNN1B_ENST00000568085.1_Silent_p.F205F	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	205					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGTGTACCTTCCGGAACTTCA	0.577																																																	0													141.0	103.0	116.0					16																	23366649		2197	4300	6497	SO:0001819	synonymous_variant	6338			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.615C>T	16.37:g.23366649C>T			C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.F250	ENST00000343070.2	37	c.750	CCDS10609.1	16																																																																																			SCNN1B	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.577	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1B	HGNC	protein_coding	OTTHUMT00000254495.2	C			23366649	+1	no_errors	ENST00000307331	ensembl	human	known	70_37	silent	SNP	1.000	T
SEC31A	22872	genome.wustl.edu	37	4	83740402	83740402	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:83740402G>A	ENST00000395310.2	-	27	3670	c.3488C>T	c.(3487-3489)tCa>tTa	p.S1163L	SEC31A_ENST00000326950.5_Missense_Mutation_p.S1124L|SEC31A_ENST00000508502.1_Missense_Mutation_p.S1148L|SEC31A_ENST00000355196.2_Missense_Mutation_p.S1163L|SEC31A_ENST00000505984.1_Missense_Mutation_p.S1109L|SEC31A_ENST00000500777.2_Missense_Mutation_p.S1010L|SEC31A_ENST00000264405.5_Missense_Mutation_p.S912L|SEC31A_ENST00000443462.2_Missense_Mutation_p.S1143L|SEC31A_ENST00000509142.1_Missense_Mutation_p.S1049L|SEC31A_ENST00000513858.1_Missense_Mutation_p.S1010L|SEC31A_ENST00000348405.4_Missense_Mutation_p.S1124L|SEC31A_ENST00000448323.1_Missense_Mutation_p.S1163L|SEC31A_ENST00000311785.7_Missense_Mutation_p.S1049L|SEC31A_ENST00000432794.1_Missense_Mutation_p.S1176L|SEC31A_ENST00000505472.1_Missense_Mutation_p.S1194L	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1163					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GATTGTTGGTGAAAGCTGAAA	0.383																																																	0													149.0	134.0	139.0					4																	83740402		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3488C>T	4.37:g.83740402G>A	ENSP00000378721:p.Ser1163Leu		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1176L	ENST00000395310.2	37	c.3527	CCDS3596.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.27|19.27	3.796214|3.796214	0.70567|0.70567	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.61274	.|0.81;0.34;1.91;1.74;0.12;1.84;1.91;0.81;0.12;0.77;0.34;1.84;1.91;2.75;1.64	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80944|0.80944	0.4721|0.4721	M|M	0.87456|0.87456	2.885|2.885	0.48975|0.48975	D|D	0.999732|0.999732	.|D;D;D;D;D;D;D;P;D	.|0.89917	.|0.995;0.993;1.0;1.0;1.0;0.997;1.0;0.937;0.999	.|D;D;D;D;D;D;D;P;D	.|0.87578	.|0.989;0.977;0.996;0.998;0.996;0.995;0.996;0.748;0.998	T|T	0.83259|0.83259	-0.0049|-0.0049	5|10	.|0.87932	.|D	.|0	-14.3934|-14.3934	19.9928|19.9928	0.97374|0.97374	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1143;1109;1010;1124;1049;1148;1163;912;1176	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.;.;.;.;.;.;SC31A_HUMAN;.;.	Y|L	326|1124;1010;1163;1143;1049;1176;1163;1124;1049;1194;1010;1148;1163;912;1109	.|ENSP00000337602:S1124L;ENSP00000426886:S1010L;ENSP00000378721:S1163L;ENSP00000408027:S1143L;ENSP00000426569:S1049L;ENSP00000407944:S1176L;ENSP00000400926:S1163L;ENSP00000325087:S1124L;ENSP00000309070:S1049L;ENSP00000421633:S1194L;ENSP00000421464:S1010L;ENSP00000424635:S1148L;ENSP00000347329:S1163L;ENSP00000264405:S912L;ENSP00000424451:S1109L	.|ENSP00000264405:S912L	H|S	-|-	1|2	0|0	SEC31A|SEC31A	83959426|83959426	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.041000|0.041000	0.13682|0.13682	9.750000|9.750000	0.98875|0.98875	2.745000|2.745000	0.94114|0.94114	0.650000|0.650000	0.86243|0.86243	CAC|TCA	SEC31A	-	NULL		0.383	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	G	NM_016211		83740402	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	missense	SNP	1.000	A
SELL	6402	genome.wustl.edu	37	1	169676572	169676572	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:169676572G>C	ENST00000236147.4	-	4	690	c.530C>G	c.(529-531)tCa>tGa	p.S177*	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	164	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GCCACTGCATGACCAGGGCTG	0.388																																																	0													73.0	69.0	70.0					1																	169676572		1883	4124	6007	SO:0001587	stop_gained	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.530C>G	1.37:g.169676572G>C	ENSP00000236147:p.Ser177*		B2R6Q8|P15023|Q9UJ43	Nonsense_Mutation	SNP	pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.S177*	ENST00000236147.4	37	c.530	CCDS53427.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.910310	0.97093	.	.	ENSG00000188404	ENST00000236147	.	.	.	5.61	3.67	0.42095	.	0.183680	0.26563	N	0.023662	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-23.293	8.1111	0.30916	0.1206:0.0:0.7293:0.1501	.	.	.	.	X	177	.	ENSP00000236147:S177X	S	-	2	0	SELL	167943196	0.999000	0.42202	0.961000	0.40146	0.867000	0.49689	3.364000	0.52328	1.456000	0.47831	0.655000	0.94253	TCA	SELL	-	pfam_EG-like_dom,smart_EG-like_dom,pirsf_L-selectin,pfscan_EG-like_dom		0.388	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	HGNC	protein_coding	OTTHUMT00000084233.1	G	NM_000655		169676572	-1	no_errors	ENST00000236147	ensembl	human	known	70_37	nonsense	SNP	0.861	C
SERPIND1	3053	genome.wustl.edu	37	22	21134114	21134114	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:21134114G>C	ENST00000215727.5	+	2	797	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.E172Q	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	172					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)|Sulodexide(DB06271)	TCTGAAGGGAGAGACCCATGA	0.433																																																	0													111.0	105.0	107.0					22																	21134114		2203	4300	6503	SO:0001583	missense	3053			M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.514G>C	22.37:g.21134114G>C	ENSP00000215727:p.Glu172Gln		B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.E172Q	ENST00000215727.5	37	c.514	CCDS13783.1	22	.	.	.	.	.	.	.	.	.	.	G	8.893	0.954384	0.18431	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.88354	-2.37;-2.37	5.81	2.52	0.30459	Serpin domain (3);	0.801478	0.12703	N	0.446162	T	0.77445	0.4131	N	0.13198	0.31	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.12156	0.007;0.007	T	0.61407	-0.7069	10	0.19590	T	0.45	.	8.7987	0.34896	0.1369:0.3402:0.5229:0.0	.	172;172	Q8IVC0;P05546	.;HEP2_HUMAN	Q	172	ENSP00000215727:E172Q;ENSP00000384050:E172Q	ENSP00000215727:E172Q	E	+	1	0	SERPIND1	19464114	0.000000	0.05858	0.401000	0.26359	0.949000	0.60115	0.528000	0.23002	0.784000	0.33661	0.650000	0.86243	GAG	SERPIND1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.433	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPIND1	HGNC	protein_coding	OTTHUMT00000319961.1	G	NM_000185		21134114	+1	no_errors	ENST00000215727	ensembl	human	known	70_37	missense	SNP	0.002	C
SETX	23064	genome.wustl.edu	37	9	135205465	135205465	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:135205465G>C	ENST00000224140.5	-	10	1702	c.1520C>G	c.(1519-1521)tCa>tGa	p.S507*	SETX_ENST00000393220.1_Nonsense_Mutation_p.S507*|SETX_ENST00000372169.2_Nonsense_Mutation_p.S507*	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	507					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATTTCCAGATGATTTCTCAGA	0.448																																																	0													107.0	111.0	110.0					9																	135205465		2203	4300	6503	SO:0001587	stop_gained	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1520C>G	9.37:g.135205465G>C	ENSP00000224140:p.Ser507*		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Nonsense_Mutation	SNP	NULL	p.S507*	ENST00000224140.5	37	c.1520	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.577860	0.98368	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	.	.	.	5.82	4.87	0.63330	.	1.074660	0.07230	N	0.862287	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.7825	0.46386	0.0732:0.1332:0.7936:0.0	.	.	.	.	X	507	.	ENSP00000224140:S507X	S	-	2	0	SETX	134195286	0.114000	0.22134	0.958000	0.39756	0.997000	0.91878	2.926000	0.48892	2.754000	0.94517	0.650000	0.86243	TCA	SETX	-	NULL		0.448	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	G	NM_015046		135205465	-1	no_errors	ENST00000372169	ensembl	human	known	70_37	nonsense	SNP	0.372	C
SHKBP1	92799	genome.wustl.edu	37	19	41094630	41094630	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:41094630C>G	ENST00000291842.5	+	14	1486	c.1437C>G	c.(1435-1437)atC>atG	p.I479M	SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Missense_Mutation_p.I454M	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	479					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTTTAAGATCCTGGCTCTGG	0.617																																																	0													79.0	77.0	78.0					19																	41094630		2203	4300	6503	SO:0001583	missense	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1437C>G	19.37:g.41094630C>G	ENSP00000291842:p.Ile479Met		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.I479M	ENST00000291842.5	37	c.1437	CCDS12560.1	19	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486899	0.63962	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.49432	0.78	4.21	3.16	0.36331	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	L	0.59912	1.85	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.963;1.0;0.997;0.997;0.999;0.995	P;D;D;D;D;D	0.80764	0.827;0.988;0.994;0.994;0.994;0.986	T	0.64740	-0.6336	10	0.66056	D	0.02	-7.3254	12.3312	0.55041	0.1704:0.8296:0.0:0.0	.	357;259;402;316;479;479	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	M	479;259	ENSP00000291842:I479M	ENSP00000291842:I479M	I	+	3	3	SHKBP1	45786470	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	4.353000	0.59411	0.977000	0.38444	0.462000	0.41574	ATC	SHKBP1	-	superfamily_WD40_repeat_dom		0.617	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	C	NM_138392		41094630	+1	no_errors	ENST00000291842	ensembl	human	known	70_37	missense	SNP	1.000	G
SIGLEC12	89858	genome.wustl.edu	37	19	52001271	52001271	+	Splice_Site	SNP	C	C	A	rs374180089		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:52001271C>A	ENST00000291707.3	-	5	1461		c.e5+1		SIGLEC12_ENST00000598614.1_Splice_Site	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCCTACCCACCTGTGTACTC	0.577																																																	0													51.0	47.0	48.0					19																	52001271		2203	4300	6503	SO:0001630	splice_region_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1405+1G>T	19.37:g.52001271C>A			Q8IYH7	Splice_Site	SNP	-	e5+1	ENST00000291707.3	37	c.1405+1	CCDS12833.1	19	.	.	.	.	.	.	.	.	.	.	c	11.23	1.577380	0.28180	.	.	ENSG00000254521	ENST00000291707	.	.	.	1.39	0.0942	0.14480	.	.	.	.	.	.	.	.	.	.	.	0.19945	N	0.999947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.334	0.11078	0.3905:0.6095:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIGLEC12	56693083	0.428000	0.25522	0.001000	0.08648	0.665000	0.39181	0.068000	0.14531	0.080000	0.16959	0.393000	0.25936	.	SIGLEC12	-	-		0.577	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	C	NM_053003	Intron	52001271	-1	no_errors	ENST00000291707	ensembl	human	known	70_37	splice_site	SNP	0.001	A
SIPA1L1	26037	genome.wustl.edu	37	14	72176352	72176352	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:72176352C>T	ENST00000555818.1	+	15	4590	c.4242C>T	c.(4240-4242)ttC>ttT	p.F1414F	SIPA1L1_ENST00000358550.2_Silent_p.F1393F|SIPA1L1_ENST00000537413.1_Silent_p.F868F|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Silent_p.F1393F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1414	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACAGCACCTTCAGTATAAACG	0.572																																																	0													70.0	64.0	66.0					14																	72176352		2203	4300	6503	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4242C>T	14.37:g.72176352C>T			J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.F1414	ENST00000555818.1	37	c.4242	CCDS9807.1	14																																																																																			SIPA1L1	-	NULL		0.572	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	C	NM_015556		72176352	+1	no_errors	ENST00000555818	ensembl	human	known	70_37	silent	SNP	1.000	T
SIPA1L3	23094	genome.wustl.edu	37	19	38610012	38610012	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:38610012C>T	ENST00000222345.6	+	9	2867	c.2358C>T	c.(2356-2358)ttC>ttT	p.F786F		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	786	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAACCACATTCCGCAAATCCG	0.557																																																	0													79.0	85.0	83.0					19																	38610012		2203	4300	6503	SO:0001819	synonymous_variant	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2358C>T	19.37:g.38610012C>T			Q2TV87	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.F786	ENST00000222345.6	37	c.2358	CCDS33007.1	19																																																																																			SIPA1L3	-	pfam_Rap_GAP,pfscan_Rap_GAP		0.557	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	C	XM_032278		38610012	+1	no_errors	ENST00000222345	ensembl	human	known	70_37	silent	SNP	1.000	T
SIRPG	55423	genome.wustl.edu	37	20	1615977	1615977	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:1615977G>A	ENST00000303415.3	-	4	1081	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V	SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000381580.1_Silent_p.V306V|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000437384.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	339	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGCGTTTGCTGACCGCCAGCT	0.498																																																	0													114.0	93.0	100.0					20																	1615977		2203	4300	6503	SO:0001819	synonymous_variant	55423			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1017C>T	20.37:g.1615977G>A			B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.V339	ENST00000303415.3	37	c.1017	CCDS13020.2	20																																																																																			SIRPG	-	smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like		0.498	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPG	HGNC	protein_coding	OTTHUMT00000077566.2	G	NM_018556		1615977	-1	no_errors	ENST00000303415	ensembl	human	known	70_37	silent	SNP	0.022	A
SLC12A1	6557	genome.wustl.edu	37	15	48539623	48539623	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:48539623C>T	ENST00000558405.1	+	12	1664	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	SLC12A1_ENST00000380993.3_Silent_p.L550L|SLC12A1_ENST00000396577.3_Silent_p.L550L			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	550					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GATATATTCTCACTTTTCTTA	0.353																																																	0													50.0	51.0	51.0					15																	48539623		2198	4297	6495	SO:0001819	synonymous_variant	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1650C>T	15.37:g.48539623C>T			A8JYA2|E9PDW4	Silent	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L550	ENST00000558405.1	37	c.1650	CCDS10129.2	15																																																																																			SLC12A1	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.353	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	C			48539623	+1	no_errors	ENST00000380993	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC17A9	63910	genome.wustl.edu	37	20	61598100	61598100	+	Intron	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:61598100C>G	ENST00000370351.4	+	12	1278				SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Intron	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9						exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGGCGGGCCTCTGTGCCCAGG	0.652																																																	0													68.0	73.0	72.0					20																	61598100		1991	4155	6146	SO:0001627	intron_variant	63910			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.1147+16C>G	20.37:g.61598100C>G			B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	RNA	SNP	-	NULL	ENST00000370351.4	37	NULL	CCDS42901.1	20																																																																																			SLC17A9	-	-		0.652	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	C	NM_022082		61598100	+1	no_errors	ENST00000488738	ensembl	human	known	70_37	rna	SNP	0.000	G
SLC20A2	6575	genome.wustl.edu	37	8	42294923	42294923	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:42294923C>T	ENST00000342228.3	-	8	1476	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	SLC20A2_ENST00000520179.1_Silent_p.E369E|SLC20A2_ENST00000520262.1_Silent_p.E369E	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	369					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGGCTGGCTTCTCCTCGGGGC	0.582																																																	0													117.0	116.0	116.0					8																	42294923		2203	4300	6503	SO:0001819	synonymous_variant	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1107G>A	8.37:g.42294923C>T				Silent	SNP	pfam_Phos_transporter	p.E369	ENST00000342228.3	37	c.1107	CCDS6132.1	8																																																																																			SLC20A2	-	pfam_Phos_transporter		0.582	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	C			42294923	-1	no_errors	ENST00000342228	ensembl	human	known	70_37	silent	SNP	0.694	T
SLC22A6	9356	genome.wustl.edu	37	11	62744783	62744783	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:62744783C>T	ENST00000377871.3	-	9	1704	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.E480K|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	480					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGGTAGAGCTCGGCAGTCATG	0.652																																																	0													74.0	62.0	66.0					11																	62744783		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1438G>A	11.37:g.62744783C>T	ENSP00000367102:p.Glu480Lys		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.E480K	ENST00000377871.3	37	c.1438	CCDS31591.1	11	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299479	0.81136	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871	T;T	0.59772	0.24;0.24	4.76	4.76	0.60689	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.052792	0.64402	D	0.000001	T	0.71264	0.3319	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.68483	0.958;0.929	T	0.70132	-0.4956	10	0.37606	T	0.19	.	15.2981	0.73925	0.0:1.0:0.0:0.0	.	480;480	Q4U2R8;Q4U2R8-2	S22A6_HUMAN;.	K	480;459;480	ENSP00000353597:E480K;ENSP00000367102:E480K	ENSP00000353597:E480K	E	-	1	0	SLC22A6	62501359	1.000000	0.71417	0.938000	0.37757	0.351000	0.29236	5.430000	0.66501	2.440000	0.82611	0.561000	0.74099	GAG	SLC22A6	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.652	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	C	NM_004790		62744783	-1	no_errors	ENST00000377871	ensembl	human	known	70_37	missense	SNP	0.999	T
SLC25A13	10165	genome.wustl.edu	37	7	95818668	95818668	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:95818668C>T	ENST00000265631.5	-	9	1007	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	SLC25A13_ENST00000416240.2_Missense_Mutation_p.E291K|SLC25A13_ENST00000542654.1_Missense_Mutation_p.E183K			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	291					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GCAATCCGTTCAATGTCTGCT	0.418																																																	0													95.0	93.0	93.0					7																	95818668		2203	4300	6503	SO:0001583	missense	10165			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.871G>A	7.37:g.95818668C>T	ENSP00000265631:p.Glu291Lys		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E291K	ENST00000265631.5	37	c.871	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794575	0.50102	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80123	-1.33;-1.34;-1.3	4.69	4.69	0.59074	.	0.053627	0.64402	N	0.000001	T	0.81735	0.4885	M	0.82923	2.615	0.80722	D	1	B;B;B	0.31274	0.317;0.212;0.212	B;B;B	0.31101	0.124;0.058;0.058	T	0.78986	-0.1987	10	0.18710	T	0.47	-16.1743	18.9332	0.92574	0.0:1.0:0.0:0.0	.	183;291;291	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	K	291;291;183	ENSP00000265631:E291K;ENSP00000400101:E291K;ENSP00000440484:E183K	ENSP00000265631:E291K	E	-	1	0	SLC25A13	95656604	1.000000	0.71417	0.999000	0.59377	0.183000	0.23260	5.839000	0.69395	2.885000	0.99019	0.655000	0.94253	GAA	SLC25A13	-	NULL		0.418	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2	C	NM_014251		95818668	-1	no_errors	ENST00000416240	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC26A11	284129	genome.wustl.edu	37	17	78211333	78211333	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:78211333G>A	ENST00000361193.3	+	9	1205	c.925G>A	c.(925-927)Ggg>Agg	p.G309R	SLC26A11_ENST00000572725.1_Missense_Mutation_p.G309R|SLC26A11_ENST00000411502.3_Missense_Mutation_p.G309R|SLC26A11_ENST00000546047.2_Missense_Mutation_p.G309R	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATGGGAGCCGGGCTGGCCGT	0.642																																																	0													40.0	33.0	35.0					17																	78211333		2203	4300	6503	SO:0001583	missense	284129				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.925G>A	17.37:g.78211333G>A	ENSP00000355384:p.Gly309Arg			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.G309R	ENST00000361193.3	37	c.925	CCDS11771.2	17	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676332	0.88445	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92805	-3.11;-3.11;-3.11	4.89	4.89	0.63831	Sulphate transporter (1);	0.047728	0.85682	D	0.000000	D	0.96188	0.8757	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	D	0.96464	0.9343	10	0.56958	D	0.05	-28.1503	18.0013	0.89198	0.0:0.0:1.0:0.0	.	309	Q86WA9	S2611_HUMAN	R	309	ENSP00000403998:G309R;ENSP00000440724:G309R;ENSP00000355384:G309R	ENSP00000355384:G309R	G	+	1	0	SLC26A11	75825928	1.000000	0.71417	0.952000	0.39060	0.773000	0.43773	9.112000	0.94314	2.410000	0.81850	0.467000	0.42956	GGG	SLC26A11	-	pfam_Sulph_transpt		0.642	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A11	HGNC	protein_coding	OTTHUMT00000257281.1	G			78211333	+1	no_errors	ENST00000361193	ensembl	human	known	70_37	missense	SNP	0.999	A
SLC29A4	222962	genome.wustl.edu	37	7	5342455	5342455	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:5342455C>G	ENST00000396872.3	+	11	1639	c.1478C>G	c.(1477-1479)tCa>tGa	p.S493*	SLC29A4_ENST00000406453.3_Nonsense_Mutation_p.S479*|SLC29A4_ENST00000439491.2_Intron|SLC29A4_ENST00000297195.4_Nonsense_Mutation_p.S493*			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	493					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TCCTACATGTCAGGGCTGACG	0.677																																																	0													35.0	27.0	30.0					7																	5342455		2195	4288	6483	SO:0001587	stop_gained	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1478C>G	7.37:g.5342455C>G	ENSP00000380081:p.Ser493*		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Nonsense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.S493*	ENST00000396872.3	37	c.1478	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	38	6.868377	0.97897	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	.	.	.	4.26	4.26	0.50523	.	0.202352	0.41097	D	0.000949	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1119	15.2155	0.73264	0.0:1.0:0.0:0.0	.	.	.	.	X	493;493;479	.	ENSP00000297195:S493X	S	+	2	0	SLC29A4	5308981	1.000000	0.71417	0.994000	0.49952	0.847000	0.48162	5.063000	0.64332	2.077000	0.62373	0.486000	0.48141	TCA	SLC29A4	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt		0.677	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	C	NM_153247		5342455	+1	no_errors	ENST00000297195	ensembl	human	known	70_37	nonsense	SNP	0.999	G
SLC39A3	29985	genome.wustl.edu	37	19	2732803	2732803	+	Silent	SNP	G	G	C	rs145788012		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:2732803G>C	ENST00000269740.4	-	3	1220	c.891C>G	c.(889-891)ctC>ctG	p.L297L	SLC39A3_ENST00000545664.1_Silent_p.L297L|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	297					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCAGGAAGAGGACCTTGA	0.667																																																	0													53.0	42.0	45.0					19																	2732803		2203	4300	6503	SO:0001819	synonymous_variant	29985			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.891C>G	19.37:g.2732803G>C			B3KMJ3|Q8WUG1	Silent	SNP	pfam_ZIP	p.L297	ENST00000269740.4	37	c.891	CCDS12093.1	19																																																																																			SLC39A3	-	pfam_ZIP		0.667	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A3	HGNC	protein_coding	OTTHUMT00000451354.2	G			2732803	-1	no_errors	ENST00000269740	ensembl	human	known	70_37	silent	SNP	1.000	C
SLC40A1	30061	genome.wustl.edu	37	2	190443129	190443129	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:190443129G>A	ENST00000261024.2	-	2	538				SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1						anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GACTTTTAATGAACATGACAA	0.398																																																	0																																										SO:0001627	intron_variant	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.111+1409C>T	2.37:g.190443129G>A			Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	RNA	SNP	-	NULL	ENST00000261024.2	37	NULL	CCDS2299.1	2																																																																																			SLC40A1	-	-		0.398	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC40A1	HGNC	protein_coding	OTTHUMT00000255916.2	G			190443129	-1	no_errors	ENST00000418714	ensembl	human	known	70_37	rna	SNP	0.000	A
SLC47A2	146802	genome.wustl.edu	37	17	19611826	19611826	+	Intron	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:19611826G>C	ENST00000325411.5	-	7	582				SLC47A2_ENST00000463318.1_Intron|SLC47A2_ENST00000350657.5_Intron	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CATCCCTGTTGAGGAGTTGGA	0.587																																																	0													91.0	97.0	95.0					17																	19611826		2203	4300	6503	SO:0001627	intron_variant	146802			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.532-6C>G	17.37:g.19611826G>C			A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Nonsense_Mutation	SNP	pfam_MATE	p.S191*	ENST00000325411.5	37	c.572	CCDS11211.1	17																																																																																			SLC47A2	-	NULL		0.587	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	G	NM_152908		19611826	-1	no_errors	ENST00000574239	ensembl	human	known	70_37	nonsense	SNP	0.000	C
SLC4A5	57835	genome.wustl.edu	37	2	74479361	74479361	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:74479361C>T	ENST00000377634.4	-	16	1822	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	SLC4A5_ENST00000394019.2_Missense_Mutation_p.D475N|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D475N|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D411N|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.D475N|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D475N|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D475N|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D411N					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATCTCTCCATCATCCCCGCTG	0.647																																																	0													94.0	79.0	84.0					2																	74479361		2203	4300	6503	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1423G>A	2.37:g.74479361C>T	ENSP00000366861:p.Asp475Asn			Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.D475N	ENST00000377634.4	37	c.1423	CCDS1936.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.941876	0.97128	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	D;D;D;D;D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76	5.29	5.29	0.74685	.	0.392907	0.23196	N	0.050844	D	0.93546	0.7940	L	0.27053	0.805	0.49051	D	0.999748	B;P;P;P;B	0.52577	0.112;0.954;0.934;0.875;0.374	B;P;P;P;B	0.48840	0.079;0.51;0.592;0.501;0.359	D	0.94208	0.7456	10	0.59425	D	0.04	.	16.4869	0.84187	0.0:1.0:0.0:0.0	.	475;475;411;475;475	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	N	475;475;475;411;475;411;475;475;475;475	ENSP00000377587:D475N;ENSP00000251768:D475N;ENSP00000352461:D411N;ENSP00000395804:D475N;ENSP00000351513:D411N;ENSP00000350475:D475N;ENSP00000366859:D475N;ENSP00000366861:D475N;ENSP00000405678:D475N	ENSP00000251768:D475N	D	-	1	0	SLC4A5	74332869	1.000000	0.71417	0.063000	0.19743	0.775000	0.43874	6.570000	0.73996	2.480000	0.83734	0.442000	0.29010	GAT	SLC4A5	-	tigrfam_HCO3_transpt_euk		0.647	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	HGNC	protein_coding	OTTHUMT00000206583.3	C			74479361	-1	no_errors	ENST00000357822	ensembl	human	known	70_37	missense	SNP	0.989	T
SLC4A3	6508	genome.wustl.edu	37	2	220494063	220494063	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:220494063G>A	ENST00000358055.3	+	4	927	c.415G>A	c.(415-417)Gag>Aag	p.E139K	SLC4A3_ENST00000497589.1_3'UTR|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E139K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E139K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E139K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E139K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	139	Poly-Glu.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tgaggaagaggaggaagagga	0.602																																																	0													23.0	28.0	26.0					2																	220494063		2202	4299	6501	SO:0001583	missense	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.415G>A	2.37:g.220494063G>A	ENSP00000350756:p.Glu139Lys		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.E139K	ENST00000358055.3	37	c.415	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865491	0.71949	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.89	4.89	0.63831	.	0.221818	0.37669	N	0.001996	T	0.30103	0.0754	L	0.49778	1.585	0.51233	D	0.999912	P;P	0.43094	0.455;0.799	B;B	0.42214	0.142;0.38	T	0.03795	-1.1003	10	0.11485	T	0.65	.	16.0117	0.80406	0.0:0.0:1.0:0.0	.	139;139	P48751;P48751-3	B3A3_HUMAN;.	K	139	ENSP00000350756:E139K;ENSP00000362865:E139K;ENSP00000273063:E139K;ENSP00000362867:E139K;ENSP00000314006:E139K	ENSP00000273063:E139K	E	+	1	0	SLC4A3	220202307	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	8.032000	0.88838	2.536000	0.85505	0.462000	0.41574	GAG	SLC4A3	-	NULL		0.602	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	G	NM_005070		220494063	+1	no_errors	ENST00000273063	ensembl	human	known	70_37	missense	SNP	1.000	A
SLCO1B7	338821	genome.wustl.edu	37	12	21242987	21242987	+	Silent	SNP	T	T	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:21242987T>C	ENST00000421593.2	+	13	1870	c.1870T>C	c.(1870-1872)Tta>Cta	p.L624L	LST3_ENST00000381541.3_Silent_p.L671L|SLCO1B3_ENST00000553473.1_Silent_p.L732L|SLCO1B7_ENST00000554957.1_Silent_p.L671L|RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000540229.1_Silent_p.L732L	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	624						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGAAGCAAACTTAGAATTCTT	0.308																																																	0													44.0	48.0	46.0					12																	21242987		2090	4252	6342	SO:0001819	synonymous_variant	28234			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1870T>C	12.37:g.21242987T>C			Q71QF0	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.L732	ENST00000421593.2	37	c.2194	CCDS44843.1	12																																																																																			SLCO1B3	-	NULL		0.308	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000402066.1	T	NM_001009562		21242987	+1	no_errors	ENST00000553473	ensembl	human	known	70_37	silent	SNP	0.018	C
SLCO2A1	6578	genome.wustl.edu	37	3	133663963	133663963	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:133663963C>G	ENST00000310926.4	-	10	1710	c.1437G>C	c.(1435-1437)atG>atC	p.M479I	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.M403I	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	479	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TTGCAGAGCTCATGTTGATGT	0.582																																																	0													133.0	131.0	131.0					3																	133663963		2203	4300	6503	SO:0001583	missense	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1437G>C	3.37:g.133663963C>G	ENSP00000311291:p.Met479Ile		Q86V98|Q8IUN2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.M479I	ENST00000310926.4	37	c.1437	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149788	0.37923	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.04119	3.7;3.7	5.45	-1.37	0.09056	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	.	.	.	.	T	0.01124	0.0037	N	0.00399	-1.545	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.47086	-0.9144	9	0.19590	T	0.45	.	2.8633	0.05593	0.149:0.2594:0.4138:0.1778	.	298;403;479	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	I	479;403	ENSP00000311291:M479I;ENSP00000418893:M403I	ENSP00000311291:M479I	M	-	3	0	SLCO2A1	135146653	0.000000	0.05858	0.001000	0.08648	0.891000	0.51852	-0.920000	0.04013	-0.243000	0.09653	0.491000	0.48974	ATG	SLCO2A1	-	pfam_OA_transporter,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.582	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	C	NM_005630		133663963	-1	no_errors	ENST00000310926	ensembl	human	known	70_37	missense	SNP	0.001	G
AC005682.5	0	genome.wustl.edu	37	7	22896271	22896271	+	RNA	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:22896271C>T	ENST00000415611.3	+	0	138				SNORD93_ENST00000408813.1_RNA																							TTATGTGCTTCTGCTGTGATG	0.368																																																	0													117.0	116.0	116.0					7																	22896271		876	1991	2867			692210																															7.37:g.22896271C>T				RNA	SNP	-	NULL	ENST00000415611.3	37	NULL		7																																																																																			SNORD93	-	-		0.368	AC005682.5-001	KNOWN	basic	lincRNA	SNORD93	HGNC	processed_transcript	OTTHUMT00000326767.3	C			22896271	+1	no_errors	ENST00000408813	ensembl	human	known	70_37	rna	SNP	0.865	T
SND1	27044	genome.wustl.edu	37	7	127326700	127326700	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:127326700C>G	ENST00000354725.3	+	2	306	c.112C>G	c.(112-114)Cag>Gag	p.Q38E		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	38	TNase-like 1. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TGTCCGAGGTCAGCCTCGTGG	0.557																																																	0													100.0	91.0	94.0					7																	127326700		2203	4300	6503	SO:0001583	missense	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.112C>G	7.37:g.127326700C>G	ENSP00000346762:p.Gln38Glu		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.Q38E	ENST00000354725.3	37	c.112	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984867	0.74474	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.29397	1.57	5.77	4.9	0.64082	Staphylococcal nuclease (SNase-like) (3);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.25382	0.0617	L	0.42632	1.34	0.58432	D	0.999999	B	0.32653	0.379	B	0.36335	0.222	T	0.02654	-1.1128	10	0.06236	T	0.91	-24.921	12.9435	0.58359	0.0:0.9213:0.0:0.0787	.	38	Q7KZF4	SND1_HUMAN	E	38;28	ENSP00000346762:Q38E	ENSP00000346762:Q38E	Q	+	1	0	SND1	127113936	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.458000	0.80787	1.578000	0.49821	0.655000	0.94253	CAG	SND1	-	superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease		0.557	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	C	NM_014390		127326700	+1	no_errors	ENST00000354725	ensembl	human	known	70_37	missense	SNP	1.000	G
SNRPA1	6627	genome.wustl.edu	37	15	101832243	101832243	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:101832243C>T	ENST00000254193.6	-	3	305	c.233G>A	c.(232-234)cGt>cAt	p.R78H	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	78					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCACCTATACGGCTAAAATA	0.388																																																	0													114.0	122.0	119.0					15																	101832243		2203	4300	6503	SO:0001583	missense	6627			AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.233G>A	15.37:g.101832243C>T	ENSP00000254193:p.Arg78His		B2R5I6|Q8TBD2	Missense_Mutation	SNP	smart_U2A'_phosphoprotein32A_C	p.R78H	ENST00000254193.6	37	c.233	CCDS10391.1	15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259314	0.80246	.	.	ENSG00000131876	ENST00000254193	T	0.62639	0.01	5.23	5.23	0.72850	.	0.055575	0.64402	D	0.000001	T	0.57242	0.2040	M	0.62266	1.93	0.80722	D	1	P	0.47191	0.891	B	0.35182	0.197	T	0.61845	-0.6979	10	0.33141	T	0.24	-10.6887	17.7832	0.88530	0.0:1.0:0.0:0.0	.	78	P09661	RU2A_HUMAN	H	78	ENSP00000254193:R78H	ENSP00000254193:R78H	R	-	2	0	SNRPA1	99649766	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.039000	0.76544	2.424000	0.82194	0.655000	0.94253	CGT	SNRPA1	-	NULL		0.388	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPA1	HGNC	protein_coding	OTTHUMT00000313621.2	C	NM_003090		101832243	-1	no_errors	ENST00000254193	ensembl	human	known	70_37	missense	SNP	0.999	T
SOHLH1	402381	genome.wustl.edu	37	9	138590275	138590275	+	Missense_Mutation	SNP	T	T	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:138590275T>A	ENST00000298466.5	-	3	305	c.245A>T	c.(244-246)cAg>cTg	p.Q82L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.Q82L	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	82	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCATCGAACTGGGGCAGCAG	0.652																																																	0													80.0	82.0	81.0					9																	138590275		2203	4300	6503	SO:0001583	missense	402381			BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.245A>T	9.37:g.138590275T>A	ENSP00000298466:p.Gln82Leu		C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.Q82L	ENST00000298466.5	37	c.245	CCDS35174.1	9	.	.	.	.	.	.	.	.	.	.	T	9.265	1.044319	0.19748	.	.	ENSG00000165643	ENST00000298466;ENST00000425225	D;D	0.97888	-4.59;-4.59	4.17	-3.92	0.04155	Helix-loop-helix DNA-binding (5);	.	.	.	.	D	0.94169	0.8129	L	0.40543	1.245	0.09310	N	1	P;P	0.42123	0.73;0.771	B;B	0.39738	0.138;0.308	D	0.88388	0.3006	9	0.37606	T	0.19	-8.3759	10.3434	0.43893	0.0:0.3826:0.0:0.6174	.	82;82	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	L	82	ENSP00000298466:Q82L;ENSP00000404438:Q82L	ENSP00000298466:Q82L	Q	-	2	0	SOHLH1	137730096	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-1.021000	0.03615	-0.815000	0.04346	-0.475000	0.04921	CAG	SOHLH1	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.652	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SOHLH1	HGNC	protein_coding	OTTHUMT00000055018.2	T	NM_001012415		138590275	-1	no_errors	ENST00000425225	ensembl	human	known	70_37	missense	SNP	0.000	A
SPEN	23013	genome.wustl.edu	37	1	16242628	16242628	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:16242628G>A	ENST00000375759.3	+	6	1453	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	417					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TACAGAAACAGAAAGTGAAAA	0.338																																																	0													89.0	85.0	86.0					1																	16242628		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1249G>A	1.37:g.16242628G>A	ENSP00000364912:p.Glu417Lys		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E417K	ENST00000375759.3	37	c.1249	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938551	0.92526	.	.	ENSG00000065526	ENST00000375759	T	0.10382	2.88	5.87	5.87	0.94306	.	.	.	.	.	T	0.20618	0.0496	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08391	-1.0724	9	0.40728	T	0.16	-24.3013	20.2147	0.98293	0.0:0.0:1.0:0.0	.	417	Q96T58	MINT_HUMAN	K	417	ENSP00000364912:E417K	ENSP00000364912:E417K	E	+	1	0	SPEN	16115215	1.000000	0.71417	0.997000	0.53966	0.698000	0.40448	9.353000	0.97080	2.785000	0.95823	0.591000	0.81541	GAA	SPEN	-	NULL		0.338	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16242628	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16242634	16242634	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:16242634G>A	ENST00000375759.3	+	6	1459	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	419					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AACAGAAAGTGAAAATGAATT	0.343																																																	0													94.0	90.0	91.0					1																	16242634		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1255G>A	1.37:g.16242634G>A	ENSP00000364912:p.Glu419Lys		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E419K	ENST00000375759.3	37	c.1255	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.543685	0.96474	.	.	ENSG00000065526	ENST00000375759	T	0.09073	3.02	5.87	5.87	0.94306	.	.	.	.	.	T	0.17831	0.0428	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08700	-1.0709	9	0.66056	D	0.02	-24.043	20.2147	0.98293	0.0:0.0:1.0:0.0	.	419	Q96T58	MINT_HUMAN	K	419	ENSP00000364912:E419K	ENSP00000364912:E419K	E	+	1	0	SPEN	16115221	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.353000	0.97080	2.785000	0.95823	0.591000	0.81541	GAA	SPEN	-	NULL		0.343	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16242634	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16264463	16264463	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:16264463G>A	ENST00000375759.3	+	13	10870	c.10666G>A	c.(10666-10668)Gag>Aag	p.E3556K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3556	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GATGCGGCTGGAGGCAACGCA	0.622																																																	0													58.0	55.0	56.0					1																	16264463		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10666G>A	1.37:g.16264463G>A	ENSP00000364912:p.Glu3556Lys		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E3556K	ENST00000375759.3	37	c.10666	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533765	0.85812	.	.	ENSG00000065526	ENST00000375759	T	0.15017	2.46	5.3	5.3	0.74995	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.49983	0.1589	M	0.87038	2.855	0.58432	D	0.999999	D	0.71674	0.998	D	0.79108	0.992	T	0.56774	-0.7923	9	0.66056	D	0.02	-23.6015	19.3263	0.94264	0.0:0.0:1.0:0.0	.	3556	Q96T58	MINT_HUMAN	K	3556	ENSP00000364912:E3556K	ENSP00000364912:E3556K	E	+	1	0	SPEN	16137050	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.293000	0.96082	2.628000	0.89032	0.655000	0.94253	GAG	SPEN	-	pfam_SPOC_C,superfamily_SPOC-like,pfscan_SPOC_met		0.622	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16264463	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	A
SPINT1	6692	genome.wustl.edu	37	15	41149135	41149135	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:41149135G>A	ENST00000344051.4	+	11	1786	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	SPINT1_ENST00000431806.1_Missense_Mutation_p.E502K|SPINT1_ENST00000562057.1_Missense_Mutation_p.E502K			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	518					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGAGGACACGGAGCACCTGGT	0.622																																																	0													176.0	178.0	177.0					15																	41149135		2203	4300	6503	SO:0001583	missense	6692				CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1552G>A	15.37:g.41149135G>A	ENSP00000342098:p.Glu518Lys		Q7Z7D2	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E518K	ENST00000344051.4	37	c.1552	CCDS10067.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.513605	0.96402	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.96459	-4.01;-4.02	5.49	5.49	0.81192	.	0.147490	0.64402	D	0.000012	D	0.97977	0.9334	M	0.76574	2.34	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.949;0.994	D	0.98645	1.0677	10	0.72032	D	0.01	-28.2428	18.9505	0.92640	0.0:0.0:1.0:0.0	.	502;502;518	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	K	518;485;502	ENSP00000342098:E518K;ENSP00000409935:E502K	ENSP00000342098:E518K	E	+	1	0	SPINT1	38936427	1.000000	0.71417	0.975000	0.42487	0.768000	0.43524	8.242000	0.89818	2.588000	0.87417	0.462000	0.41574	GAG	SPINT1	-	NULL		0.622	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPINT1	HGNC	protein_coding	OTTHUMT00000252359.2	G	NM_003710		41149135	+1	no_errors	ENST00000344051	ensembl	human	known	70_37	missense	SNP	1.000	A
SPP1	6696	genome.wustl.edu	37	4	88901544	88901544	+	Splice_Site	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:88901544G>C	ENST00000395080.3	+	5	301		c.e5-1		SPP1_ENST00000237623.7_Intron|SPP1_ENST00000509659.1_Splice_Site|SPP1_ENST00000360804.4_Splice_Site	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1						biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TCCTTCTTCAGAATGCTGTGT	0.383																																																	0													76.0	77.0	77.0					4																	88901544		2203	4300	6503	SO:0001630	splice_region_variant	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.175-1G>C	4.37:g.88901544G>C			B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Splice_Site	SNP	-	e4-1	ENST00000395080.3	37	c.175-1	CCDS43250.1	4	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645829	0.29246	.	.	ENSG00000118785	ENST00000359072;ENST00000395080;ENST00000360804	.	.	.	6.04	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.588	0.56428	0.0774:0.0:0.9226:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPP1	89120568	1.000000	0.71417	0.882000	0.34594	0.291000	0.27294	3.127000	0.50484	1.578000	0.49821	0.643000	0.83706	.	SPP1	-	-		0.383	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP1	HGNC	protein_coding	OTTHUMT00000253048.3	G		Intron	88901544	+1	no_errors	ENST00000395080	ensembl	human	known	70_37	splice_site	SNP	0.984	C
SPR	6697	genome.wustl.edu	37	2	73118555	73118555	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:73118555G>A	ENST00000234454.5	+	3	748	c.675G>A	c.(673-675)ctG>ctA	p.L225L	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	225					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						TGCAGGAGCTGAAGGCAAAGG	0.562																																																	0													81.0	76.0	78.0					2																	73118555		2203	4300	6503	SO:0001819	synonymous_variant	6697				CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	11257	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 38C, member 1"""	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.675G>A	2.37:g.73118555G>A			A8K741|D6W5H2|Q53GI9|Q9UBB1	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red	p.L225	ENST00000234454.5	37	c.675	CCDS1920.1	2																																																																																			SPR	-	tigrfam_Sepiapterin_red		0.562	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPR	HGNC	protein_coding	OTTHUMT00000251993.2	G			73118555	+1	no_errors	ENST00000234454	ensembl	human	known	70_37	silent	SNP	0.524	A
SREBF2	6721	genome.wustl.edu	37	22	42267031	42267031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:42267031C>T	ENST00000361204.4	+	4	1025	c.859C>T	c.(859-861)Caa>Taa	p.Q287*		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	287	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGCTGCCCTTCAAGTACCAGT	0.547																																																	0													101.0	100.0	100.0					22																	42267031		2203	4300	6503	SO:0001587	stop_gained	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.859C>T	22.37:g.42267031C>T	ENSP00000354476:p.Gln287*		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Nonsense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.Q287*	ENST00000361204.4	37	c.859	CCDS14023.1	22	.	.	.	.	.	.	.	.	.	.	C	39	7.313062	0.98203	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.2623	19.365	0.94458	0.0:1.0:0.0:0.0	.	.	.	.	X	287	.	ENSP00000354476:Q287X	Q	+	1	0	SREBF2	40596977	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.805000	0.86005	2.577000	0.86979	0.455000	0.32223	CAA	SREBF2	-	NULL		0.547	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1	C	NM_004599		42267031	+1	no_errors	ENST00000361204	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SST	6750	genome.wustl.edu	37	3	187388066	187388066	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:187388066C>T	ENST00000287641.3	-	1	121	c.14G>A	c.(13-15)cGc>cAc	p.R5H		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	5					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GCACTGGAGGCGGCAGGACAG	0.672																																																	0													14.0	13.0	13.0					3																	187388066		2192	4290	6482	SO:0001583	missense	6750				CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.14G>A	3.37:g.187388066C>T	ENSP00000287641:p.Arg5His		B2R5G3|P01166	Missense_Mutation	SNP	pfam_Somatostatin/Cortistatin_C,pirsf_Somatostatin	p.R5H	ENST00000287641.3	37	c.14	CCDS3288.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.288730	0.95517	.	.	ENSG00000157005	ENST00000287641	T	0.34072	1.38	5.48	5.48	0.80851	.	0.229124	0.44902	D	0.000414	T	0.55673	0.1935	M	0.75777	2.31	0.54753	D	0.999981	D	0.62365	0.991	P	0.54965	0.765	T	0.60439	-0.7263	10	0.72032	D	0.01	-9.1293	17.9406	0.89025	0.0:1.0:0.0:0.0	.	5	P61278	SMS_HUMAN	H	5	ENSP00000287641:R5H	ENSP00000287641:R5H	R	-	2	0	SST	188870760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.822000	0.69265	2.560000	0.86352	0.563000	0.77884	CGC	SST	-	pirsf_Somatostatin		0.672	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SST	HGNC	protein_coding	OTTHUMT00000344278.1	C	NM_001048		187388066	-1	no_errors	ENST00000287641	ensembl	human	known	70_37	missense	SNP	1.000	T
ST3GAL3	6487	genome.wustl.edu	37	1	44386147	44386147	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:44386147C>T	ENST00000361392.4	+	10	993	c.816C>T	c.(814-816)ctC>ctT	p.L272L	ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372374.2_Silent_p.L241L|ST3GAL3_ENST00000372368.2_Silent_p.L326L|ST3GAL3_ENST00000372375.2_Silent_p.L326L|ST3GAL3_ENST00000262915.3_Silent_p.L341L|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000347631.2_Silent_p.L287L|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000361746.4_Silent_p.L341L|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372372.2_Silent_p.L310L|ST3GAL3_ENST00000361400.4_Silent_p.L256L|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000332628.6_Silent_p.L241L|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.S194L|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000351035.3_Silent_p.L310L	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	272					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				TTCGAATCCTCAACCCATATT	0.587																																																	0													87.0	81.0	83.0					1																	44386147		2203	4300	6503	SO:0001819	synonymous_variant	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.816C>T	1.37:g.44386147C>T			A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.S194L	ENST00000361392.4	37	c.581	CCDS492.1	1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032735	0.54790	.	.	ENSG00000126091	ENST00000335430;ENST00000490502	T	0.59772	0.24	4.59	4.59	0.56863	.	.	.	.	.	T	0.59404	0.2191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57412	-0.7816	5	.	.	.	.	8.7576	0.34654	0.141:0.6489:0.2101:0.0	.	.	.	.	L	194;71	ENSP00000335633:S194L	.	S	+	2	0	ST3GAL3	44158734	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.636000	0.46545	2.264000	0.75181	0.467000	0.42956	TCA	ST3GAL3	-	NULL		0.587	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL3	HGNC	protein_coding	OTTHUMT00000019964.1	C	NM_174963		44386147	+1	no_errors	ENST00000335430	ensembl	human	known	70_37	missense	SNP	1.000	T
STXBP5	134957	genome.wustl.edu	37	6	147660514	147660514	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:147660514G>C	ENST00000321680.6	+	21	2248	c.2248G>C	c.(2248-2250)Gat>Cat	p.D750H	STXBP5_ENST00000179882.6_Intron|STXBP5_ENST00000367480.3_Intron|STXBP5_ENST00000367481.3_Intron	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	750					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGTAGCCAATGATATAGGTAG	0.303																																																	0													65.0	59.0	61.0					6																	147660514		692	1589	2281	SO:0001583	missense	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2248G>C	6.37:g.147660514G>C	ENSP00000321826:p.Asp750His		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.D750H	ENST00000321680.6	37	c.2248	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081870	0.55861	.	.	ENSG00000164506	ENST00000321680	T	0.22539	1.95	5.03	5.03	0.67393	.	0.415730	0.27792	N	0.017829	T	0.28300	0.0699	L	0.33485	1.01	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.03166	-1.1065	10	0.48119	T	0.1	.	18.709	0.91649	0.0:0.0:1.0:0.0	.	750	Q5T5C0	STXB5_HUMAN	H	750	ENSP00000321826:D750H	ENSP00000321826:D750H	D	+	1	0	STXBP5	147702207	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.131000	0.89601	2.483000	0.83821	0.585000	0.79938	GAT	STXBP5	-	NULL		0.303	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	G			147660514	+1	no_errors	ENST00000321680	ensembl	human	known	70_37	missense	SNP	1.000	C
SYNE1	23345	genome.wustl.edu	37	6	152576212	152576212	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:152576212C>G	ENST00000367255.5	-	104	19874	c.19273G>C	c.(19273-19275)Gac>Cac	p.D6425H	SYNE1_ENST00000423061.1_Missense_Mutation_p.D6354H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D6354H|SYNE1_ENST00000356820.4_Missense_Mutation_p.D949H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D6037H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6425H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6425					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCTTAATGTCTTTGGCAAGA	0.318										HNSCC(10;0.0054)																																							0													60.0	53.0	55.0					6																	152576212		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19273G>C	6.37:g.152576212C>G	ENSP00000356224:p.Asp6425His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D6425H	ENST00000367255.5	37	c.19273	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942035	0.73557	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.55930	0.58;0.56;0.49;0.57;0.67;2.59	5.87	5.87	0.94306	.	0.090226	0.47852	D	0.000218	T	0.55970	0.1954	L	0.51422	1.61	0.40224	D	0.977779	P;P;D	0.59357	0.954;0.954;0.985	P;P;P	0.59825	0.668;0.668;0.864	T	0.59188	-0.7501	10	0.72032	D	0.01	.	14.3782	0.66892	0.0:0.9298:0.0:0.0702	.	6425;6425;6354	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	H	6425;6354;6425;6354;6037;949	ENSP00000356224:D6425H;ENSP00000396024:D6354H;ENSP00000265368:D6425H;ENSP00000390975:D6354H;ENSP00000341887:D6037H;ENSP00000349276:D949H	ENSP00000265368:D6425H	D	-	1	0	SYNE1	152617905	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.081000	0.57627	2.785000	0.95823	0.655000	0.94253	GAC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.318	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152576212	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	G
SYNE2	23224	genome.wustl.edu	37	14	64644154	64644154	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:64644154C>T	ENST00000344113.4	+	96	17721	c.17509C>T	c.(17509-17511)Ctt>Ttt	p.L5837F	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.L2222F|SYNE2_ENST00000394768.2_Missense_Mutation_p.L2222F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L5702F|SYNE2_ENST00000555002.1_Missense_Mutation_p.L2471F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L5837F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5837					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGATCCTCTTCCAGAGCT	0.388																																																	0													88.0	90.0	89.0					14																	64644154		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17509C>T	14.37:g.64644154C>T	ENSP00000341781:p.Leu5837Phe		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L5837F	ENST00000344113.4	37	c.17509	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770193	0.90108	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.78003	-1.07;-1.07;-1.07;-1.14;-1.07;-1.07	6.07	6.07	0.98685	.	0.000000	0.50627	D	0.000102	D	0.89339	0.6687	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.996;0.957;0.999;0.993;0.996	D	0.87957	0.2727	10	0.48119	T	0.1	.	20.6452	0.99591	0.0:1.0:0.0:0.0	.	2222;225;5702;5837;5837	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	F	5837;2222;5837;5702;5708;2471;2222	ENSP00000350719:L5837F;ENSP00000349969:L2222F;ENSP00000341781:L5837F;ENSP00000452570:L5702F;ENSP00000450831:L2471F;ENSP00000378249:L2222F	ENSP00000261678:L5708F	L	+	1	0	SYNE2	63713907	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.243000	0.65395	2.885000	0.99019	0.650000	0.86243	CTT	SYNE2	-	smart_Spectrin/alpha-actinin		0.388	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64644154	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64691728	64691728	+	Silent	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:64691728G>T	ENST00000344113.4	+	114	20627	c.20415G>T	c.(20413-20415)gtG>gtT	p.V6805V	SYNE2_ENST00000458046.2_Silent_p.V476V|SYNE2_ENST00000555022.1_Silent_p.V683V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_Silent_p.V349V|SYNE2_ENST00000357395.3_Silent_p.V3190V|SYNE2_ENST00000394768.2_Silent_p.V3190V|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E6726*|SYNE2_ENST00000555002.1_Silent_p.V3461V|SYNE2_ENST00000358025.3_Silent_p.V6827V|SYNE2_ENST00000554805.1_Silent_p.V588V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6805					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAGAGCAGTGAGAACTACAG	0.448																																																	0													69.0	69.0	69.0					14																	64691728		2203	4300	6503	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20415G>T	14.37:g.64691728G>T			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_Calpain_domain_III,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain	p.E6726*	ENST00000344113.4	37	c.20176	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	58	30.495036	0.99977	.	.	ENSG00000054654	ENST00000554584;ENST00000261678	.	.	.	6.17	1.28	0.21552	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1817	0.31315	0.3998:0.0:0.6002:0.0	.	.	.	.	X	6726;6732	.	ENSP00000261678:E6732X	E	+	1	0	SYNE2	63761481	0.145000	0.22656	0.000000	0.03702	0.010000	0.07245	0.765000	0.26546	0.173000	0.19788	0.655000	0.94253	GAG	SYNE2	-	NULL		0.448	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64691728	+1	no_errors	ENST00000554584	ensembl	human	novel	70_37	nonsense	SNP	0.000	T
SYT6	148281	genome.wustl.edu	37	1	114680163	114680163	+	Missense_Mutation	SNP	A	A	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:114680163A>G	ENST00000610222.1	-	3	1171	c.1025T>C	c.(1024-1026)cTg>cCg	p.L342P	SYT6_ENST00000609117.1_Missense_Mutation_p.L257P|SYT6_ENST00000607941.1_Missense_Mutation_p.L257P|SYT6_ENST00000369547.1_Missense_Mutation_p.L257P|SYT6_ENST00000393296.1_Missense_Mutation_p.L342P			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	342					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		TTCCCGAGACAGGTCAGAGGC	0.522																																																	0													107.0	98.0	101.0					1																	114680163		2203	4300	6503	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1025T>C	1.37:g.114680163A>G	ENSP00000476396:p.Leu342Pro		B1AMB8|B3KPK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.L342P	ENST00000610222.1	37	c.1025		1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.306440	0.81247	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.46	5.46	0.80206	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	M	0.81179	2.53	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.03433	-1.1037	10	0.87932	D	0	.	15.5383	0.76021	1.0:0.0:0.0:0.0	.	342	Q5T7P8	SYT6_HUMAN	P	257;342;257;342	ENSP00000358560:L257P;ENSP00000376974:L342P;ENSP00000358559:L257P;ENSP00000358558:L342P	ENSP00000358558:L342P	L	-	2	0	SYT6	114481686	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.336000	0.96533	2.079000	0.62486	0.533000	0.62120	CTG	SYT6	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.522	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	A	NM_205848		114680163	-1	no_errors	ENST00000369545	ensembl	human	known	70_37	missense	SNP	1.000	G
SYT14	255928	genome.wustl.edu	37	1	210111619	210111619	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:210111619G>C	ENST00000472886.1	+	1	24	c.10G>C	c.(10-12)Gaa>Caa	p.E4Q	SYT14_ENST00000399639.2_Missense_Mutation_p.E4Q|SYT14_ENST00000367019.1_Missense_Mutation_p.E4Q|SYT14_ENST00000534859.1_Missense_Mutation_p.E4Q|SYT14_ENST00000537238.1_5'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.L8F			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	4					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CATGGCGATTGAAGGTAAGTG	0.731																																																	0													23.0	21.0	22.0					1																	210111619		2194	4278	6472	SO:0001583	missense	255928			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.10G>C	1.37:g.210111619G>C	ENSP00000418901:p.Glu4Gln		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L8F	ENST00000472886.1	37	c.24	CCDS31014.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.51|13.51	2.258958|2.258958	0.39896|0.39896	.|.	.|.	ENSG00000143469|ENSG00000143469	ENST00000534859;ENST00000399639;ENST00000367019;ENST00000472886|ENST00000422431	T;T;T;T|T	0.17854|0.07216	3.25;2.25;3.26;3.52|3.21	2.7|2.7	2.7|2.7	0.31948|0.31948	.|.	1.171330|.	0.06581|.	U|.	0.750410|.	T|T	0.04634|0.04634	0.0126|0.0126	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|B	0.11235|0.14805	0.004;0.003|0.011	B;B|B	0.09377|0.12837	0.004;0.004|0.008	T|T	0.32052|0.32052	-0.9921|-0.9921	10|9	0.54805|0.87932	T|D	0.06|0	.|.	8.9462|8.9462	0.35760|0.35760	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4;4|8	Q8NB59;Q8NB59-6|F5H426	SYT14_HUMAN;.|.	Q|F	4|8	ENSP00000442891:E4Q;ENSP00000445837:E4Q;ENSP00000355986:E4Q;ENSP00000418901:E4Q|ENSP00000389039:L8F	ENSP00000355986:E4Q|ENSP00000389039:L8F	E|L	+|+	1|3	0|2	SYT14|SYT14	208178242|208178242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.818000|0.818000	0.46254|0.46254	2.557000|2.557000	0.45871|0.45871	1.497000|1.497000	0.48584|0.48584	0.313000|0.313000	0.20887|0.20887	GAA|TTG	SYT14	-	NULL		0.731	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT14	HGNC	protein_coding	OTTHUMT00000089124.1	G	NM_153262		210111619	+1	no_errors	ENST00000422431	ensembl	human	known	70_37	missense	SNP	1.000	C
TAF15	8148	genome.wustl.edu	37	17	34173922	34173922	+	Missense_Mutation	SNP	A	A	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:34173922A>T	ENST00000588240.1	+	16	1867	c.1752A>T	c.(1750-1752)agA>agT	p.R584S	TAF15_ENST00000311979.3_Missense_Mutation_p.R581S|TAF15_ENST00000592237.1_Missense_Mutation_p.E389V	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ACGACTACAGAAATGATCAGC	0.413			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																			Dom	yes		17	17q11.1-q11.2	8148	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""		"""L, M"""	0													140.0	135.0	137.0					17																	34173922		2203	4300	6503	SO:0001583	missense	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1752A>T	17.37:g.34173922A>T	ENSP00000466950:p.Arg584Ser		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.R584S	ENST00000588240.1	37	c.1752	CCDS32623.1	17	.	.	.	.	.	.	.	.	.	.	a	15.89	2.965563	0.53507	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.7	3.61	0.41365	.	.	.	.	.	T	0.50069	0.1594	L	0.36672	1.1	0.27806	N	0.942318	D;D	0.61080	0.981;0.989	D;D	0.72625	0.95;0.978	T	0.37709	-0.9694	8	0.87932	D	0	-9.5337	6.948	0.24530	0.8924:0.0:0.1076:0.0	.	584;581	Q92804;Q92804-2	RBP56_HUMAN;.	S	584;387	.	ENSP00000309558:R584S	R	+	3	2	TAF15	31198035	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.264000	0.72527	0.640000	0.30582	0.373000	0.22412	AGA	TAF15	-	NULL		0.413	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF15	HGNC	protein_coding	OTTHUMT00000449134.1	A	NM_139215		34173922	+1	no_errors	ENST00000588240	ensembl	human	known	70_37	missense	SNP	1.000	T
TAF1L	138474	genome.wustl.edu	37	9	32632175	32632175	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:32632175G>C	ENST00000242310.4	-	1	3492	c.3403C>G	c.(3403-3405)Cag>Gag	p.Q1135E	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	1135					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.Q1135E(1)|p.Q1135*(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)		CGTGACAGCTGAGAGCTGGTT	0.468																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	lung(1)|breast(1)											217.0	171.0	186.0					9																	32632175		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.3403C>G	9.37:g.32632175G>C	ENSP00000418379:p.Gln1135Glu		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.Q1135E	ENST00000242310.4	37	c.3403	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280697	0.40294	.	.	ENSG00000122728	ENST00000242310	T	0.07567	3.18	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	L	0.45698	1.435	0.50171	D	0.999858	B	0.19200	0.034	B	0.17098	0.017	T	0.22068	-1.0227	10	0.39692	T	0.17	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1135	Q8IZX4	TAF1L_HUMAN	E	1135	ENSP00000418379:Q1135E	ENSP00000418379:Q1135E	Q	-	1	0	TAF1L	32622175	1.000000	0.71417	0.995000	0.50966	0.680000	0.39746	6.138000	0.71717	0.507000	0.28148	0.195000	0.17529	CAG	TAF1L	-	pirsf_TAF1_animal		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	G			32632175	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	C
TCF19	6941	genome.wustl.edu	37	6	31129531	31129531	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:31129531C>T	ENST00000376257.3	+	3	1300	c.546C>T	c.(544-546)ctC>ctT	p.L182L	TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Silent_p.L182L	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	182					cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L182L(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TAGGCAGCCTCAGCAAGCTCC	0.657																																																	1	Substitution - coding silent(1)	lung(1)											40.0	49.0	46.0					6																	31129531		1277	2542	3819	SO:0001819	synonymous_variant	6941			U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.546C>T	6.37:g.31129531C>T			A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Silent	SNP	pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom	p.L182	ENST00000376257.3	37	c.546	CCDS43446.1	6																																																																																			TCF19	-	NULL		0.657	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF19	HGNC	protein_coding	OTTHUMT00000076595.2	C	NM_007109		31129531	+1	no_errors	ENST00000376255	ensembl	human	known	70_37	silent	SNP	1.000	T
C8orf12	83656	genome.wustl.edu	37	8	11223212	11223212	+	5'Flank	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:11223212G>C	ENST00000284481.3	+	0	0				TDH_ENST00000534302.1_RNA					chromosome 8 open reading frame 12																		TCTGAAAGCAGAGTTGCCCAA	0.493																																																	0																																										SO:0001631	upstream_gene_variant	157739			AJ301563		8p23.1	2013-01-15			ENSG00000184608	ENSG00000184608			15548	other	unknown							Standard	NR_026814		Approved			Q96KT0	OTTHUMG00000165366		8.37:g.11223212G>C	Exception_encountered			RNA	SNP	-	NULL	ENST00000284481.3	37	NULL		8																																																																																			TDH	-	-		0.493	C8orf12-201	KNOWN	basic|appris_principal	protein_coding	TDH	HGNC	protein_coding		G	NR_026814		11223212	+1	no_errors	ENST00000525246	ensembl	human	known	70_37	rna	SNP	0.625	C
TEKT2	27285	genome.wustl.edu	37	1	36550612	36550612	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:36550612G>A	ENST00000207457.3	+	2	217	c.90G>A	c.(88-90)ctG>ctA	p.L30L	RP4-665N4.4_ENST00000446354.1_RNA	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	30					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATGCCCAGCTGCAGCGAGATG	0.617																																																	0													54.0	49.0	51.0					1																	36550612		2203	4300	6503	SO:0001819	synonymous_variant	27285			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.90G>A	1.37:g.36550612G>A			A6NIS6|O60638	Silent	SNP	pfam_Tektin,superfamily_Prefoldin,prints_Tektin	p.L30	ENST00000207457.3	37	c.90	CCDS401.1	1																																																																																			TEKT2	-	pfam_Tektin		0.617	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT2	HGNC	protein_coding	OTTHUMT00000020200.1	G	NM_014466		36550612	+1	no_errors	ENST00000207457	ensembl	human	known	70_37	silent	SNP	0.811	A
TENM3	55714	genome.wustl.edu	37	4	183271042	183271042	+	Intron	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:183271042G>C	ENST00000511685.1	+	3	634				TENM3_ENST00000406950.2_Intron			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3						camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGGTTGAAAAGAGAAGGAGAT	0.343																																																	0																																										SO:0001627	intron_variant	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.511+2960G>C	4.37:g.183271042G>C			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	RNA	SNP	-	NULL	ENST00000511685.1	37	NULL	CCDS47165.1	4																																																																																			TENM3	-	-		0.343	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	G			183271042	+1	no_errors	ENST00000513201	ensembl	human	known	70_37	rna	SNP	0.000	C
TEX15	56154	genome.wustl.edu	37	8	30701580	30701580	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:30701580C>G	ENST00000256246.2	-	1	5028	c.4954G>C	c.(4954-4956)Gaa>Caa	p.E1652Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1652					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E1652Q(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCTTTCTTTCAAAAGCTTCC	0.358																																																	1	Substitution - Missense(1)	cervix(1)											57.0	58.0	58.0					8																	30701580		2202	4299	6501	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4954G>C	8.37:g.30701580C>G	ENSP00000256246:p.Glu1652Gln			Missense_Mutation	SNP	NULL	p.E1652Q	ENST00000256246.2	37	c.4954	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135465	0.56828	.	.	ENSG00000133863	ENST00000256246	T	0.27104	1.69	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000009	T	0.42539	0.1207	M	0.63843	1.955	0.40991	D	0.98485	D	0.71674	0.998	D	0.62955	0.909	T	0.39583	-0.9607	10	0.87932	D	0	.	8.681	0.34209	0.0:0.7677:0.1534:0.0789	.	1652	Q9BXT5	TEX15_HUMAN	Q	1652	ENSP00000256246:E1652Q	ENSP00000256246:E1652Q	E	-	1	0	TEX15	30821122	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.529000	0.45632	2.795000	0.96236	0.655000	0.94253	GAA	TEX15	-	NULL		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	C			30701580	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	1.000	G
TFPI	7035	genome.wustl.edu	37	2	188331689	188331689	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:188331689C>T	ENST00000233156.3	-	8	1183	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.E297K	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	297					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	AAAATTTCTTCATATGCTATT	0.249																																																	0													27.0	30.0	29.0					2																	188331689		2159	4232	6391	SO:0001583	missense	7035				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.889G>A	2.37:g.188331689C>T	ENSP00000233156:p.Glu297Lys		O95103|Q53TS4	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E297K	ENST00000233156.3	37	c.889	CCDS2294.1	2	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898566	0.52227	.	.	ENSG00000003436	ENST00000392365;ENST00000233156	T;T	0.57273	0.41;0.41	4.77	4.77	0.60923	.	0.250304	0.32640	N	0.005836	T	0.59783	0.2219	M	0.63843	1.955	0.28613	N	0.908571	D	0.58268	0.982	P	0.52793	0.709	T	0.57412	-0.7816	10	0.33141	T	0.24	.	13.6721	0.62432	0.0:1.0:0.0:0.0	.	297	P10646	TFPI1_HUMAN	K	297	ENSP00000376172:E297K;ENSP00000233156:E297K	ENSP00000233156:E297K	E	-	1	0	TFPI	188039934	0.002000	0.14202	0.048000	0.18961	0.046000	0.14306	0.719000	0.25881	2.354000	0.79902	0.655000	0.94253	GAA	TFPI	-	pirsf_Prot_inhib_I2_TFPI		0.249	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI	HGNC	protein_coding	OTTHUMT00000255881.1	C	NM_006287		188331689	-1	no_errors	ENST00000233156	ensembl	human	known	70_37	missense	SNP	0.628	T
TFPI2	7980	genome.wustl.edu	37	7	93519487	93519487	+	Missense_Mutation	SNP	G	G	T	rs367633100		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:93519487G>T	ENST00000222543.5	-	2	545	c.233C>A	c.(232-234)aCc>aAc	p.T78N	AC002076.10_ENST00000435257.1_RNA|GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Missense_Mutation_p.T78N	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	78	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AGCCTCCCAGGTGTAGAAATT	0.617																																																	0													36.0	38.0	38.0					7																	93519487		2203	4300	6503	SO:0001583	missense	7980			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.233C>A	7.37:g.93519487G>T	ENSP00000222543:p.Thr78Asn		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.T78N	ENST00000222543.5	37	c.233	CCDS5632.1	7	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408290	0.62399	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.61627	0.09;0.09	4.95	4.05	0.47172	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.337812	0.34133	N	0.004222	T	0.73001	0.3531	M	0.71296	2.17	0.09310	N	1	P;D;P;D	0.69078	0.659;0.997;0.946;0.997	B;D;P;D	0.68483	0.284;0.958;0.618;0.958	T	0.67154	-0.5742	10	0.66056	D	0.02	.	14.2721	0.66157	0.0:0.2938:0.7062:0.0	.	49;67;78;78	A4ZVU7;Q8NAK6;F5H3J8;P48307	.;.;.;TFPI2_HUMAN	N	78	ENSP00000222543:T78N;ENSP00000438861:T78N	ENSP00000222543:T78N	T	-	2	0	TFPI2	93357423	0.117000	0.22190	0.008000	0.14137	0.028000	0.11728	0.540000	0.23191	1.167000	0.42706	0.313000	0.20887	ACC	TFPI2	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pirsf_Prot_inhib_I2_TFPI,pfscan_Prot_inh_Kunz-m		0.617	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI2	HGNC	protein_coding	OTTHUMT00000254720.2	G	NM_006528		93519487	-1	no_errors	ENST00000222543	ensembl	human	known	70_37	missense	SNP	0.038	T
TGFB1I1	7041	genome.wustl.edu	37	16	31486025	31486025	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:31486025C>T	ENST00000394863.3	+	7	791	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.P204S|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.P204S|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.P204S	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	221	Interaction with PTK2B/PYK2.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						CCGGGGTGTTCCCACCCAGGC	0.617																																																	0													15.0	18.0	17.0					16																	31486025		2197	4300	6497	SO:0001583	missense	7041			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.661C>T	16.37:g.31486025C>T	ENSP00000378332:p.Pro221Ser		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.P221S	ENST00000394863.3	37	c.661	CCDS42156.1	16	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053416	0.19907	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.56444	0.47;0.46;0.46	5.35	5.35	0.76521	.	0.145895	0.48286	D	0.000197	T	0.42404	0.1201	L	0.47716	1.5	0.40521	D	0.980834	B	0.19200	0.034	B	0.15870	0.014	T	0.28267	-1.0049	10	0.09338	T	0.73	.	12.6312	0.56659	0.0:0.8335:0.1665:0.0	.	221	O43294	TGFI1_HUMAN	S	221;204;204	ENSP00000378332:P221S;ENSP00000355117:P204S;ENSP00000378327:P204S	ENSP00000355117:P204S	P	+	1	0	TGFB1I1	31393526	0.166000	0.22962	0.996000	0.52242	0.894000	0.52154	1.291000	0.33330	2.659000	0.90383	0.655000	0.94253	CCC	TGFB1I1	-	pirsf_Leupaxin		0.617	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFB1I1	HGNC	protein_coding	OTTHUMT00000255630.3	C			31486025	+1	no_errors	ENST00000394863	ensembl	human	known	70_37	missense	SNP	0.998	T
TKTL1	8277	genome.wustl.edu	37	X	153524225	153524225	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:153524225G>A	ENST00000369915.3	+	1	202	c.13G>A	c.(13-15)Gag>Aag	p.E5K	TEX28_ENST00000369926.1_5'Flank|TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	5					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCGGATGCTGAGGCGAGGGC	0.612																																																	0													83.0	74.0	77.0					X																	153524225		2203	4300	6503	SO:0001583	missense	8277			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.13G>A	X.37:g.153524225G>A	ENSP00000358931:p.Glu5Lys		A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.E5K	ENST00000369915.3	37	c.13	CCDS35448.1	X	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988505	0.35036	.	.	ENSG00000007350	ENST00000369915	T	0.30714	1.52	3.27	1.99	0.26369	.	0.000000	0.34133	N	0.004234	T	0.13243	0.0321	N	0.14661	0.345	0.21861	N	0.999503	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.30534	-0.9975	10	0.09084	T	0.74	.	6.6811	0.23121	0.2003:0.0:0.7997:0.0	.	5;5	B7Z7I0;P51854	.;TKTL1_HUMAN	K	5	ENSP00000358931:E5K	ENSP00000358931:E5K	E	+	1	0	TKTL1	153177419	0.032000	0.19561	0.003000	0.11579	0.026000	0.11368	2.742000	0.47434	0.478000	0.27488	0.529000	0.55759	GAG	TKTL1	-	NULL		0.612	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	HGNC	protein_coding	OTTHUMT00000058923.1	G	NM_012253		153524225	+1	no_errors	ENST00000369915	ensembl	human	known	70_37	missense	SNP	0.024	A
TLR3	7098	genome.wustl.edu	37	4	187004056	187004056	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:187004056C>T	ENST00000296795.3	+	4	1320	c.1216C>T	c.(1216-1218)Cat>Tat	p.H406Y	TLR3_ENST00000504367.1_Missense_Mutation_p.H129Y	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	406					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATCACTTGCTCATTCTCCCTT	0.373																																																	0													63.0	59.0	60.0					4																	187004056		2203	4300	6503	SO:0001583	missense	7098			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1216C>T	4.37:g.187004056C>T	ENSP00000296795:p.His406Tyr		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.H406Y	ENST00000296795.3	37	c.1216	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	C	1.617	-0.522575	0.04141	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020;ENST00000504367	T;T;T	0.35236	1.47;1.43;1.32	5.78	1.84	0.25277	.	0.851711	0.11244	N	0.584297	T	0.23133	0.0559	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21042	-1.0257	10	0.54805	T	0.06	.	3.5237	0.07752	0.3679:0.3364:0.2199:0.0759	.	406	O15455	TLR3_HUMAN	Y	406;342;406;129	ENSP00000296795:H406Y;ENSP00000423386:H342Y;ENSP00000423684:H129Y	ENSP00000296795:H406Y	H	+	1	0	TLR3	187241050	0.900000	0.30661	0.998000	0.56505	0.345000	0.29048	0.752000	0.26362	0.781000	0.33589	0.557000	0.71058	CAT	TLR3	-	smart_Leu-rich_rpt_typical-subtyp		0.373	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	C			187004056	+1	no_errors	ENST00000296795	ensembl	human	known	70_37	missense	SNP	0.057	T
TMBIM4	51643	genome.wustl.edu	37	12	66563707	66563707	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:66563707G>A	ENST00000358230.3	-	1	145	c.25C>T	c.(25-27)Cct>Tct	p.P9S	TMBIM4_ENST00000535812.1_5'UTR|TMBIM4_ENST00000539652.1_Missense_Mutation_p.P9S|TMBIM4_ENST00000398033.4_Missense_Mutation_p.P9S|TMBIM4_ENST00000544599.1_5'Flank|TMBIM4_ENST00000542724.1_5'UTR|TMBIM4_ENST00000556010.1_Missense_Mutation_p.P9S|TMBIM4_ENST00000286424.7_Missense_Mutation_p.P9S	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	9					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GAGGAGCGAGGGTACCGGGGG	0.657											OREG0021974	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15.0	22.0	19.0					12																	66563707		1880	3921	5801	SO:0001583	missense	51643			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.25C>T	12.37:g.66563707G>A	ENSP00000350965:p.Pro9Ser	1092	Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.P9S	ENST00000358230.3	37	c.25	CCDS41805.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.20|18.20	3.570498|3.570498	0.65765|0.65765	.|.	.|.	ENSG00000155957|ENSG00000155957	ENST00000539427|ENST00000556010;ENST00000358230;ENST00000426857;ENST00000286424;ENST00000398033;ENST00000539043	.|T;T;T;T	.|0.37058	.|1.57;1.61;1.22;1.59	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.32734|0.32734	0.0839|0.0839	L|L	0.37561|0.37561	1.115|1.115	0.53688|0.53688	D|D	0.999976|0.999976	.|P;P;B;B	.|0.38617	.|0.64;0.57;0.38;0.017	.|B;B;B;B	.|0.40825	.|0.11;0.341;0.11;0.007	T|T	0.04579|0.04579	-1.0941|-1.0941	6|9	.|.	.|.	.|.	-10.8661|-10.8661	15.511|15.511	0.75782|0.75782	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|9;9;9;9	.|E7EWY5;G3XAA5;E7EQ00;Q9HC24	.|.;.;.;TMBI4_HUMAN	L|S	8|9	.|ENSP00000451688:P9S;ENSP00000350965:P9S;ENSP00000286424:P9S;ENSP00000381114:P9S	.|.	P|P	-|-	2|1	0|0	TMBIM4|TMBIM4	64849974|64849974	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.025000|0.025000	0.11179|0.11179	3.700000|3.700000	0.54786|0.54786	2.563000|2.563000	0.86464|0.86464	0.563000|0.563000	0.77884|0.77884	CCC|CCT	TMBIM4	-	NULL		0.657	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2	G	NM_016056		66563707	-1	no_errors	ENST00000358230	ensembl	human	known	70_37	missense	SNP	1.000	A
TMC8	147138	genome.wustl.edu	37	17	76128447	76128447	+	Missense_Mutation	SNP	C	C	G	rs199498761		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:76128447C>G	ENST00000318430.5	+	4	680	c.306C>G	c.(304-306)ttC>ttG	p.F102L	TMC6_ENST00000322914.3_5'UTR|TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	102					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAGGCCTCTTCGGCACAGGAA	0.692																																																	0													44.0	35.0	38.0					17																	76128447		2201	4299	6500	SO:0001583	missense	147138			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.306C>G	17.37:g.76128447C>G	ENSP00000325561:p.Phe102Leu		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.F102L	ENST00000318430.5	37	c.306	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	c	14.48	2.547268	0.45383	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	D	0.83992	-1.79	3.87	-2.75	0.05914	.	0.063063	0.64402	D	0.000006	D	0.89733	0.6800	M	0.90542	3.125	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.87217	0.2251	10	0.87932	D	0	-15.6166	8.9655	0.35874	0.0:0.5248:0.0:0.4752	.	102	Q8IU68	TMC8_HUMAN	L	102	ENSP00000325561:F102L	ENSP00000301627:F102L	F	+	3	2	TMC8	73640042	0.111000	0.22076	0.958000	0.39756	0.097000	0.18754	-0.829000	0.04415	-0.750000	0.04740	-0.265000	0.10407	TTC	TMC8	-	NULL		0.692	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	C			76128447	+1	no_errors	ENST00000318430	ensembl	human	known	70_37	missense	SNP	0.978	G
TMC8	147138	genome.wustl.edu	37	17	76130600	76130600	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:76130600C>G	ENST00000318430.5	+	8	1316	c.942C>G	c.(940-942)atC>atG	p.I314M	TMC6_ENST00000322914.3_5'Flank|TMC8_ENST00000589691.1_Missense_Mutation_p.I91M	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	314					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TTGGGGCCATCAGCGCCATCT	0.607																																																	0													54.0	59.0	57.0					17																	76130600		2203	4300	6503	SO:0001583	missense	147138			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.942C>G	17.37:g.76130600C>G	ENSP00000325561:p.Ile314Met		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.I314M	ENST00000318430.5	37	c.942	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374972	0.61735	.	.	ENSG00000167895	ENST00000318430	T	0.50548	0.74	4.71	3.72	0.42706	.	0.162922	0.53938	D	0.000051	T	0.57095	0.2030	M	0.65975	2.015	0.32015	N	0.601515	D;D	0.71674	0.979;0.998	P;P	0.61940	0.827;0.896	T	0.61922	-0.6963	10	0.33940	T	0.23	-36.5972	7.0959	0.25309	0.0:0.7297:0.1725:0.0978	.	314;314	A5D8Y4;Q8IU68	.;TMC8_HUMAN	M	314	ENSP00000325561:I314M	ENSP00000325561:I314M	I	+	3	3	TMC8	73642195	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.934000	0.40163	2.161000	0.67846	0.561000	0.74099	ATC	TMC8	-	NULL		0.607	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	C			76130600	+1	no_errors	ENST00000318430	ensembl	human	known	70_37	missense	SNP	0.999	G
TMEM233	387890	genome.wustl.edu	37	12	120067563	120067563	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:120067563G>C	ENST00000426426.1	+	2	599	c.209G>C	c.(208-210)gGa>gCa	p.G70A	RN7SKP197_ENST00000517077.1_RNA|TMEM233_ENST00000453450.2_3'UTR	NM_001136534.1	NP_001130006.1	B4DJY2	TM233_HUMAN	transmembrane protein 233	70					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(1)	1						TACAACGATGGAGACTACGAA	0.542																																																	0													97.0	76.0	83.0					12																	120067563		692	1591	2283	SO:0001583	missense	387890				CCDS44995.1	12q24.23	2009-10-16			ENSG00000224982	ENSG00000224982			37219	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 2"""						Standard	NM_001136534		Approved	IFITMD2	uc010szd.1	B4DJY2	OTTHUMG00000168944	ENST00000426426.1:c.209G>C	12.37:g.120067563G>C	ENSP00000403130:p.Gly70Ala			Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.G70A	ENST00000426426.1	37	c.209	CCDS44995.1	12	.	.	.	.	.	.	.	.	.	.	g	19.83	3.900624	0.72754	.	.	ENSG00000224982	ENST00000426426	D	0.92149	-2.98	5.3	5.3	0.74995	.	.	.	.	.	D	0.95940	0.8678	M	0.80332	2.49	0.43531	D	0.995813	D	0.76494	0.999	D	0.91635	0.999	D	0.95793	0.8826	8	.	.	.	.	15.8862	0.79251	0.0:0.0:1.0:0.0	.	70	B4DJY2	TM233_HUMAN	A	70	ENSP00000403130:G70A	.	G	+	2	0	TMEM233	118551946	1.000000	0.71417	0.341000	0.25589	0.559000	0.35586	6.413000	0.73308	2.485000	0.83878	0.655000	0.94253	GGA	TMEM233	-	pfam_Interferon-induced_TM_protein		0.542	TMEM233-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM233	HGNC	protein_coding	OTTHUMT00000401684.1	G	NM_001136534		120067563	+1	no_errors	ENST00000426426	ensembl	human	known	70_37	missense	SNP	0.995	C
TMEM44	93109	genome.wustl.edu	37	3	194337995	194337995	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:194337995G>A	ENST00000392432.2	-	7	962	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	TMEM44_ENST00000347147.4_Missense_Mutation_p.R206W|TMEM44_ENST00000473092.1_Missense_Mutation_p.R206W|TMEM44_ENST00000381975.3_Missense_Mutation_p.R206W|TMEM44_ENST00000273580.7_Missense_Mutation_p.R206W	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	253						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		GTCTTCCCCCGGCACTGGGCA	0.677																																																	0													11.0	10.0	11.0					3																	194337995		2074	4082	6156	SO:0001583	missense	93109			AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.757C>T	3.37:g.194337995G>A	ENSP00000376227:p.Arg253Trp		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Missense_Mutation	SNP	NULL	p.R253W	ENST00000392432.2	37	c.757	CCDS54699.1	3	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710844	0.68730	.	.	ENSG00000145014	ENST00000392432;ENST00000273580;ENST00000347147;ENST00000381975;ENST00000473092	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.05	5.05	0.67936	.	0.781376	0.10820	N	0.630640	T	0.51193	0.1660	L	0.47716	1.5	0.48830	D	0.99971	D;D;D;D;D	0.76494	0.997;0.999;0.997;0.998;0.997	P;P;P;P;P	0.59703	0.736;0.862;0.742;0.742;0.736	T	0.45425	-0.9262	10	0.87932	D	0	-6.765	14.3016	0.66357	0.0:0.0:1.0:0.0	.	206;253;206;206;206	E9PGA9;Q2T9K0;Q2T9K0-4;Q2T9K0-2;Q2T9K0-6	.;TMM44_HUMAN;.;.;.	W	253;206;206;206;206	ENSP00000376227:R253W;ENSP00000273580:R206W;ENSP00000333355:R206W;ENSP00000371402:R206W;ENSP00000418674:R206W	ENSP00000273580:R206W	R	-	1	2	TMEM44	195819284	0.696000	0.27757	0.856000	0.33681	0.615000	0.37417	1.175000	0.31944	2.516000	0.84829	0.655000	0.94253	CGG	TMEM44	-	NULL		0.677	TMEM44-002	KNOWN	basic|CCDS	protein_coding	TMEM44	HGNC	protein_coding	OTTHUMT00000342750.1	G	NM_138399		194337995	-1	no_errors	ENST00000392432	ensembl	human	known	70_37	missense	SNP	0.923	A
TMEM74	157753	genome.wustl.edu	37	8	109797062	109797062	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:109797062C>T	ENST00000297459.3	-	2	444	c.266G>A	c.(265-267)gGg>gAg	p.G89E	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	89					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTGGTTGTTCCCTGAGTGGAG	0.468																																																	0													138.0	136.0	137.0					8																	109797062		2203	4300	6503	SO:0001583	missense	157753			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.266G>A	8.37:g.109797062C>T	ENSP00000297459:p.Gly89Glu			Missense_Mutation	SNP	NULL	p.G89E	ENST00000297459.3	37	c.266	CCDS6310.1	8	.	.	.	.	.	.	.	.	.	.	C	0.253	-1.004945	0.02112	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.68	1.34	0.21922	.	0.526138	0.17926	N	0.157359	T	0.26846	0.0657	N	0.14661	0.345	0.30873	N	0.732265	B	0.09022	0.002	B	0.12156	0.007	T	0.23726	-1.0180	9	0.17369	T	0.5	-1.4197	10.4496	0.44513	0.0:0.6569:0.0:0.3431	.	89	Q96NL1	TMM74_HUMAN	E	89	.	ENSP00000297459:G89E	G	-	2	0	TMEM74	109866238	0.018000	0.18449	0.973000	0.42090	0.795000	0.44927	0.079000	0.14782	0.346000	0.23899	0.655000	0.94253	GGG	TMEM74	-	NULL		0.468	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	HGNC	protein_coding	OTTHUMT00000380755.1	C	NM_153015		109797062	-1	no_errors	ENST00000297459	ensembl	human	known	70_37	missense	SNP	0.776	T
TMPRSS15	5651	genome.wustl.edu	37	21	19701525	19701525	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr21:19701525C>G	ENST00000284885.3	-	15	1774	c.1741G>C	c.(1741-1743)Gaa>Caa	p.E581Q		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	581	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCTCTTATTTCAACTACATCG	0.313																																																	0													99.0	95.0	96.0					21																	19701525		2203	4299	6502	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1741G>C	21.37:g.19701525C>G	ENSP00000284885:p.Glu581Gln		Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E581Q	ENST00000284885.3	37	c.1741	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929029	0.73327	.	.	ENSG00000154646	ENST00000284885	T	0.22134	1.97	5.53	5.53	0.82687	CUB (5);	0.129401	0.50627	D	0.000119	T	0.46852	0.1414	M	0.72894	2.215	0.50632	D	0.999889	D	0.89917	1.0	D	0.79784	0.993	T	0.25813	-1.0121	9	.	.	.	.	17.3132	0.87215	0.0:1.0:0.0:0.0	.	581	P98073	ENTK_HUMAN	Q	581	ENSP00000284885:E581Q	.	E	-	1	0	TMPRSS15	18623396	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	5.609000	0.67661	2.758000	0.94735	0.655000	0.94253	GAA	TMPRSS15	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.313	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	C	NM_002772		19701525	-1	no_errors	ENST00000284885	ensembl	human	known	70_37	missense	SNP	1.000	G
TMPRSS6	164656	genome.wustl.edu	37	22	37471306	37471306	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr22:37471306C>T	ENST00000346753.3	-	11	1354	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R404H|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R404H|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R404H	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	413	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGCAGGATGCGCAAGCCACA	0.667																																																	0													37.0	39.0	39.0					22																	37471306		2203	4299	6502	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1238G>A	22.37:g.37471306C>T	ENSP00000334962:p.Arg413His		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.R404H	ENST00000346753.3	37	c.1211	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902913	0.92035	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.27	5.27	0.74061	CUB (4);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.67953	2.075	0.54753	D	0.999984	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.828	T	0.41215	-0.9521	10	0.66056	D	0.02	.	18.8759	0.92334	0.0:1.0:0.0:0.0	.	404;413	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	H	404;413;404;404	ENSP00000371211:R404H;ENSP00000334962:R413H;ENSP00000385453:R404H;ENSP00000384964:R404H	ENSP00000334962:R413H	R	-	2	0	TMPRSS6	35801252	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.158000	0.77470	2.455000	0.83008	0.561000	0.74099	CGC	TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,superfamily_CUB,pfscan_CUB		0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	C	NM_153609		37471306	-1	no_errors	ENST00000381792	ensembl	human	known	70_37	missense	SNP	1.000	T
TNFRSF10D	8793	genome.wustl.edu	37	8	23021422	23021422	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:23021422C>T	ENST00000312584.3	-	1	121	c.27G>A	c.(25-27)ccG>ccA	p.P9P		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	9					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TCGAGGCGGTCGGGACGCTTT	0.582											OREG0018632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29.0	27.0	28.0					8																	23021422		2203	4299	6502	SO:0001819	synonymous_variant	8793			AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.27G>A	8.37:g.23021422C>T		760	B2R8W0|Q9Y6Q4	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10	p.P9	ENST00000312584.3	37	c.27	CCDS6038.1	8																																																																																			TNFRSF10D	-	NULL		0.582	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10D	HGNC	protein_coding	OTTHUMT00000215135.1	C			23021422	-1	no_errors	ENST00000312584	ensembl	human	known	70_37	silent	SNP	0.000	T
TNIK	23043	genome.wustl.edu	37	3	170841401	170841401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:170841401G>A	ENST00000436636.2	-	18	2448	c.2104C>T	c.(2104-2106)Caa>Taa	p.Q702*	TNIK_ENST00000538048.1_Nonsense_Mutation_p.Q647*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.Q702*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.Q673*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.Q647*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.Q618*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.Q647*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.Q673*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.Q673*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.Q618*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	702	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGATGGGTTGAGATCCTAGT	0.443																																																	0													112.0	99.0	103.0					3																	170841401		1861	4095	5956	SO:0001587	stop_gained	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2104C>T	3.37:g.170841401G>A	ENSP00000399511:p.Gln702*		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.Q702*	ENST00000436636.2	37	c.2104	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	G	40	7.985716	0.98596	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	6.17	6.17	0.99709	.	0.055576	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	702;673;647;618;702;618;673;647;647;673	.	ENSP00000284483:Q702X	Q	-	1	0	TNIK	172324095	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.568000	0.90741	2.941000	0.99782	0.655000	0.94253	CAA	TNIK	-	NULL		0.443	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	G	XM_039796		170841401	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TNKS1BP1	85456	genome.wustl.edu	37	11	57077101	57077101	+	Silent	SNP	G	G	A	rs141870467		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:57077101G>A	ENST00000532437.1	-	5	3395	c.3084C>T	c.(3082-3084)ttC>ttT	p.F1028F	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Silent_p.F1028F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1028	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGCTAGGACTGAACAAGCCCC	0.597																																																	0													68.0	68.0	68.0					11																	57077101		2201	4296	6497	SO:0001819	synonymous_variant	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.3084C>T	11.37:g.57077101G>A			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.F1028	ENST00000532437.1	37	c.3084	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL		0.597	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	G	NM_033396		57077101	-1	no_errors	ENST00000358252	ensembl	human	known	70_37	silent	SNP	0.000	A
TNS4	84951	genome.wustl.edu	37	17	38644991	38644991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:38644991G>A	ENST00000254051.6	-	3	828	c.670C>T	c.(670-672)Cga>Tga	p.R224*		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	224	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TTTGGGGGTCGAGGGGAGAGA	0.647																																																	0													18.0	23.0	21.0					17																	38644991		2139	4253	6392	SO:0001587	stop_gained	84951			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.670C>T	17.37:g.38644991G>A	ENSP00000254051:p.Arg224*		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Nonsense_Mutation	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2	p.R224*	ENST00000254051.6	37	c.670	CCDS11368.1	17	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370041	0.61624	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	.	.	.	5.77	4.8	0.61643	.	2.667480	0.01119	N	0.005750	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	1.4959	9.8611	0.41114	0.1578:0.0:0.8422:0.0	.	.	.	.	X	224	.	ENSP00000254051:R224X	R	-	1	2	TNS4	35898517	0.001000	0.12720	0.034000	0.17996	0.015000	0.08874	0.943000	0.29030	1.447000	0.47661	0.563000	0.77884	CGA	TNS4	-	NULL		0.647	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	G	NM_032865		38644991	-1	no_errors	ENST00000254051	ensembl	human	known	70_37	nonsense	SNP	0.068	A
TP53BP1	7158	genome.wustl.edu	37	15	43783907	43783907	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:43783907G>C	ENST00000263801.3	-	4	568	c.316C>G	c.(316-318)Cag>Gag	p.Q106E	TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q111E|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q111E|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q111E	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	106					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCAATGACCTGACTGATGGAA	0.363								Other conserved DNA damage response genes																																									0													185.0	188.0	187.0					15																	43783907		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.316C>G	15.37:g.43783907G>C	ENSP00000263801:p.Gln106Glu		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q111E	ENST00000263801.3	37	c.331	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850132	0.71719	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.12361	3.56;3.56;3.54;3.56;2.69	4.64	4.64	0.57946	.	0.205916	0.32548	N	0.005949	T	0.32071	0.0817	M	0.72894	2.215	0.34183	D	0.67111	D;D;P;P	0.59767	0.986;0.965;0.917;0.917	D;P;P;P	0.69654	0.965;0.777;0.878;0.878	T	0.35500	-0.9786	10	0.23891	T	0.37	-8.0136	12.8522	0.57864	0.0:0.0:1.0:0.0	.	111;106;111;111	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	E	106;111;111;111;111	ENSP00000263801:Q106E;ENSP00000371475:Q111E;ENSP00000371470:Q111E;ENSP00000393497:Q111E;ENSP00000388028:Q111E	ENSP00000263801:Q106E	Q	-	1	0	TP53BP1	41571199	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.491000	0.53252	2.417000	0.82017	0.585000	0.79938	CAG	TP53BP1	-	NULL		0.363	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	G			43783907	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	1.000	C
TPT1-AS1	100190939	genome.wustl.edu	37	13	45965271	45965271	+	RNA	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:45965271G>A	ENST00000517509.1	+	0	1179				TPT1-AS1_ENST00000522673.1_RNA|TPT1-AS1_ENST00000520585.1_RNA|TPT1-AS1_ENST00000519454.1_RNA	NR_024458.1				TPT1 antisense RNA 1																		GCTCGTCGAAGTTCTTGGAGT	0.592																																																	0																																												100190939			AF318337		13q14.13	2012-10-12	2012-08-15		ENSG00000170919	ENSG00000170919		"""Long non-coding RNAs"""	43686	non-coding RNA	RNA, long non-coding			"""TPT1 antisense RNA 1 (non-protein coding)"""				Standard	NR_024458		Approved		uc021rjh.1		OTTHUMG00000016851		13.37:g.45965271G>A				RNA	SNP	-	NULL	ENST00000517509.1	37	NULL		13																																																																																			TPT1-AS1	-	-		0.592	TPT1-AS1-003	KNOWN	basic	antisense	TPT1-AS1	HGNC	antisense	OTTHUMT00000374919.1	G	NR_024458		45965271	+1	no_errors	ENST00000379050	ensembl	human	known	70_37	rna	SNP	1.000	A
TRIM16	10626	genome.wustl.edu	37	17	15535892	15535892	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr17:15535892C>T	ENST00000578237.1	-	9	1801	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.E316K|TRIM16_ENST00000577886.1_Missense_Mutation_p.E100K|TRIM16_ENST00000416464.2_Missense_Mutation_p.E186K|TRIM16_ENST00000336708.7_Missense_Mutation_p.E316K|TRIM16_ENST00000579219.1_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	316					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		ACAGTGGATTCCGTGATAACT	0.458																																																	0													96.0	87.0	90.0					17																	15535892		2203	4298	6501	SO:0001583	missense	10626			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.946G>A	17.37:g.15535892C>T	ENSP00000463188:p.Glu316Lys		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.E316K	ENST00000578237.1	37	c.946	CCDS11171.1	17	.	.	.	.	.	.	.	.	.	.	c	9.889	1.203712	0.22121	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.69040	-0.07;-0.37	4.8	3.82	0.43975	.	0.370421	0.28072	N	0.016709	T	0.52141	0.1716	L	0.34521	1.04	0.25469	N	0.987849	B;B;B	0.21905	0.062;0.007;0.034	B;B;B	0.24394	0.053;0.02;0.016	T	0.33624	-0.9861	10	0.23302	T	0.38	.	10.392	0.44179	0.0:0.9036:0.0:0.0964	.	186;316;330	B3KP96;O95361;Q59EB2	.;TRI16_HUMAN;.	K	316;186	ENSP00000338989:E316K;ENSP00000399918:E186K	ENSP00000338989:E316K	E	-	1	0	TRIM16	15476617	0.963000	0.33076	0.991000	0.47740	0.121000	0.20230	2.174000	0.42482	2.371000	0.80710	0.555000	0.69702	GAA	TRIM16	-	NULL		0.458	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM16	HGNC	protein_coding	OTTHUMT00000130700.2	C	NM_006470		15535892	-1	no_errors	ENST00000336708	ensembl	human	known	70_37	missense	SNP	0.991	T
TRIP12	9320	genome.wustl.edu	37	2	230667174	230667174	+	Splice_Site	SNP	A	A	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:230667174A>G	ENST00000283943.5	-	20	2953	c.2775T>C	c.(2773-2775)ggT>ggC	p.G925G	TRIP12_ENST00000389045.3_Splice_Site_p.G655G|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Splice_Site_p.G973G	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	925					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GATGCATTACACCTTTATAAT	0.398																																																	0													99.0	94.0	96.0					2																	230667174		2203	4300	6503	SO:0001630	splice_region_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2774-1T>C	2.37:g.230667174A>G			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.G925	ENST00000283943.5	37	c.2775	CCDS33391.1	2																																																																																			TRIP12	-	superfamily_ARM-type_fold		0.398	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	A	NM_004238	Silent	230667174	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	silent	SNP	1.000	G
TRPC7	57113	genome.wustl.edu	37	5	135567044	135567044	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:135567044C>G	ENST00000513104.1	-	8	2320	c.2038G>C	c.(2038-2040)Gag>Cag	p.E680Q	TRPC7_ENST00000355180.3_Missense_Mutation_p.E619Q|TRPC7_ENST00000426057.2_Missense_Mutation_p.E564Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	680					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCCTTACCTCAATTTCCTGA	0.418																																																	0													122.0	112.0	115.0					5																	135567044		1942	4157	6099	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2038G>C	5.37:g.135567044C>G	ENSP00000426070:p.Glu680Gln		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.E680Q	ENST00000513104.1	37	c.2038	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.661786|4.661786	0.88154|0.88154	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.83837|.	-1.77;-1.77;-1.77|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.68348|.	0.2991|.	L|L	0.43554|0.43554	1.36|1.36	0.54753|0.54753	D|D	0.999987|0.999987	B;P;P;P|.	0.46952|.	0.222;0.863;0.887;0.784|.	B;P;P;P|.	0.55222|.	0.168;0.771;0.574;0.54|.	T|.	0.62671|.	-0.6805|.	10|.	0.56958|.	D|.	0.05|.	-25.5103|-25.5103	19.4372|19.4372	0.94801|0.94801	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	564;619;625;680|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	Q|S	619;564;680;680|563;618;624	ENSP00000347312:E619Q;ENSP00000441628:E564Q;ENSP00000426070:E680Q|.	ENSP00000265193:E680Q|.	E|X	-|-	1|2	0|2	TRPC7|TRPC7	135594943|135594943	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.959000|0.959000	0.62525|0.62525	7.609000|7.609000	0.82925|0.82925	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GAG|TGA	TRPC7	-	prints_TRPC_channel,tigrfam_TRP_channel		0.418	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	C	NM_020389		135567044	-1	no_errors	ENST00000513104	ensembl	human	known	70_37	missense	SNP	1.000	G
CFAP70	118491	genome.wustl.edu	37	10	75071636	75071636	+	Missense_Mutation	SNP	G	G	C	rs115761754	byFrequency	TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:75071636G>C	ENST00000310715.3	-	12	1450	c.1330C>G	c.(1330-1332)Cct>Gct	p.P444A	TTC18_ENST00000401621.2_Missense_Mutation_p.P444A|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.P444A	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		444						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCTTCCAAAGGAGTATCTGAG	0.378																																																	0													150.0	161.0	157.0					10																	75071636		2203	4300	6503	SO:0001583	missense	118491																														ENST00000310715.3:c.1330C>G	10.37:g.75071636G>C	ENSP00000310829:p.Pro444Ala		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P444A	ENST00000310715.3	37	c.1330	CCDS7324.3	10	.	.	.	.	.	.	.	.	.	.	G	2.996	-0.207058	0.06180	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	T;T;T	0.28666	2.02;2.02;1.6	4.92	4.0	0.46444	.	0.181729	0.35349	N	0.003278	T	0.22742	0.0549	L	0.40543	1.245	0.34644	D	0.720956	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.22138	-1.0225	10	0.11794	T	0.64	-23.016	11.2252	0.48880	0.0:0.1857:0.8143:0.0	.	444;444	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	A	444	ENSP00000310829:P444A;ENSP00000384479:P444A;ENSP00000378334:P444A	ENSP00000310829:P444A	P	-	1	0	TTC18	74741642	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	1.789000	0.38724	1.051000	0.40369	0.563000	0.77884	CCT	TTC18	-	NULL		0.378	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding		G			75071636	-1	no_errors	ENST00000310715	ensembl	human	known	70_37	missense	SNP	0.989	C
CFAP46	54777	genome.wustl.edu	37	10	134627759	134627759	+	Splice_Site	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:134627759C>T	ENST00000368586.5	-	54	7386		c.e54-1		TTC40_ENST00000263170.5_Splice_Site	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GTTAGCATTTCTGCAAGGAGA	0.557																																																	0													74.0	62.0	66.0					10																	134627759		2202	4299	6501	SO:0001630	splice_region_variant	54777																														ENST00000368586.5:c.7286-1G>A	10.37:g.134627759C>T				Splice_Site	SNP	-	e16-1	ENST00000368586.5	37	c.1769-1	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277215	0.23307	.	.	ENSG00000171811	ENST00000435957;ENST00000368586;ENST00000263170	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.62	0.56597	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf93	134477749	0.928000	0.31464	0.231000	0.23993	0.319000	0.28217	3.295000	0.51794	2.129000	0.65627	0.655000	0.94253	.	TTC40	-	-		0.557	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	C		Intron	134627759	-1	no_errors	ENST00000263170	ensembl	human	known	70_37	splice_site	SNP	0.853	T
TTLL10	254173	genome.wustl.edu	37	1	1114911	1114911	+	Intron	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:1114911C>T	ENST00000379290.1	+	5	291				TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379288.3_5'Flank|TTLL10_ENST00000379289.1_Intron			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGTCGCGCTCCGCGGCCCAG	0.701																																																	0																																										SO:0001627	intron_variant	100506376			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.119-126C>T	1.37:g.1114911C>T			B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	RNA	SNP	-	NULL	ENST00000379290.1	37	NULL	CCDS44036.1	1																																																																																			TTLL10-AS1	-	-		0.701	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10-AS1	HGNC	protein_coding	OTTHUMT00000002421.3	C	NM_153254		1114911	-1	no_errors	ENST00000379317	ensembl	human	known	70_37	rna	SNP	0.000	T
TTN	7273	genome.wustl.edu	37	2	179432591	179432591	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:179432591C>T	ENST00000591111.1	-	276	73569	c.73345G>A	c.(73345-73347)Gac>Aac	p.D24449N	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D17150N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D17025N|TTN_ENST00000589042.1_Missense_Mutation_p.D26090N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D17217N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23522N			Q8WZ42	TITIN_HUMAN	titin	24449					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGGTGGGTCACAGGGATCT	0.403																																																	0													195.0	186.0	189.0					2																	179432591		1879	4111	5990	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73345G>A	2.37:g.179432591C>T	ENSP00000465570:p.Asp24449Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D23522N	ENST00000591111.1	37	c.70564		2	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275918	0.40294	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.58	5.58	0.84498	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70360	0.3215	M	0.86178	2.8	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.974;0.974;0.974;0.986	T	0.74937	-0.3494	9	0.87932	D	0	.	19.5644	0.95388	0.0:1.0:0.0:0.0	.	17025;17150;17217;24449	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	23522;17025;17217;17150;17023	ENSP00000343764:D23522N;ENSP00000434586:D17025N;ENSP00000340554:D17217N;ENSP00000352154:D17150N	ENSP00000340554:D17217N	D	-	1	0	TTN	179140837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.981000	0.70524	2.615000	0.88500	0.555000	0.69702	GAC	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179432591	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
UBASH3B	84959	genome.wustl.edu	37	11	122680574	122680574	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:122680574G>C	ENST00000284273.5	+	14	2305	c.1930G>C	c.(1930-1932)Gag>Cag	p.E644Q		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	644	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CAACTGGAGAGAGACCTTGCT	0.453																																																	0													83.0	84.0	83.0					11																	122680574		2202	4299	6501	SO:0001583	missense	84959			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1930G>C	11.37:g.122680574G>C	ENSP00000284273:p.Glu644Gln		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.E644Q	ENST00000284273.5	37	c.1930	CCDS31694.1	11	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822149	0.71028	.	.	ENSG00000154127	ENST00000284273	T	0.06068	3.35	5.73	5.73	0.89815	.	0.045509	0.85682	D	0.000000	T	0.05777	0.0151	N	0.22421	0.69	0.80722	D	1	B	0.31879	0.344	B	0.20955	0.032	T	0.49881	-0.8892	10	0.25106	T	0.35	-13.1586	20.2602	0.98440	0.0:0.0:1.0:0.0	.	644	Q8TF42	UBS3B_HUMAN	Q	644	ENSP00000284273:E644Q	ENSP00000284273:E644Q	E	+	1	0	UBASH3B	122185784	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.764000	0.98949	2.861000	0.98227	0.655000	0.94253	GAG	UBASH3B	-	NULL		0.453	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	G	NM_032873		122680574	+1	no_errors	ENST00000284273	ensembl	human	known	70_37	missense	SNP	1.000	C
UBC	7316	genome.wustl.edu	37	12	125396452	125396452	+	Silent	SNP	G	G	T	rs71458872		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:125396452G>T	ENST00000538617.1	-	4	1042	c.726C>A	c.(724-726)acC>acA	p.T242T	UBC_ENST00000536769.1_Silent_p.T622T|UBC_ENST00000339647.5_Silent_p.T622T|UBC_ENST00000546120.1_Silent_p.T546T|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	622	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCACCTCGAGGGTGATGGTCT	0.527																																																	0																																										SO:0001819	synonymous_variant	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.726C>A	12.37:g.125396452G>T			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.T622	ENST00000538617.1	37	c.1866		12																																																																																			UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.527	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400179.1	G	NM_021009		125396452	-1	no_errors	ENST00000339647	ensembl	human	known	70_37	silent	SNP	1.000	T
UBE4A	9354	genome.wustl.edu	37	11	118247314	118247314	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr11:118247314C>T	ENST00000431736.2	+	10	1569	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	UBE4A_ENST00000545354.1_5'Flank|UBE4A_ENST00000252108.3_Silent_p.I492I					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCTGTTTGATCCCAGCTGTGC	0.418																																																	0													117.0	119.0	118.0					11																	118247314		2200	4296	6496	SO:0001819	synonymous_variant	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1497C>T	11.37:g.118247314C>T				Silent	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.I499	ENST00000431736.2	37	c.1497	CCDS8396.1	11																																																																																			UBE4A	-	pfam_Ub_conjug_fac_E4_core		0.418	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBE4A	HGNC	protein_coding	OTTHUMT00000398143.1	C	NM_004788		118247314	+1	no_errors	ENST00000431736	ensembl	human	known	70_37	silent	SNP	1.000	T
UBR2	23304	genome.wustl.edu	37	6	42646299	42646299	+	Missense_Mutation	SNP	G	G	A	rs375384984		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:42646299G>A	ENST00000372899.1	+	41	4759	c.4501G>A	c.(4501-4503)Ggc>Agc	p.G1501S	UBR2_ENST00000372901.1_Missense_Mutation_p.G1501S|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1501					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G1501S(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AATACCATCCGGCTGGCATCT	0.393																																																	1	Substitution - Missense(1)	endometrium(1)						G	SER/GLY	0,4406		0,0,2203	149.0	140.0	143.0		4501	5.3	1.0	6		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	UBR2	NM_015255.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1501/1756	42646299	1,13005	2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4501G>A	6.37:g.42646299G>A	ENSP00000361990:p.Gly1501Ser		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.G1501S	ENST00000372899.1	37	c.4501	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569304	0.65765	0.0	1.16E-4	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.46819	0.86;0.86	5.26	5.26	0.73747	.	0.101112	0.64402	D	0.000002	T	0.48607	0.1509	M	0.70275	2.135	0.80722	D	1	D;B	0.63880	0.993;0.096	P;B	0.56612	0.802;0.033	T	0.50906	-0.8772	10	0.06757	T	0.87	-14.0327	19.2288	0.93829	0.0:0.0:1.0:0.0	.	1501;1501	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	S	1501	ENSP00000361990:G1501S;ENSP00000361992:G1501S	ENSP00000361990:G1501S	G	+	1	0	UBR2	42754277	1.000000	0.71417	0.959000	0.39883	0.171000	0.22731	8.335000	0.90031	2.624000	0.88883	0.650000	0.86243	GGC	UBR2	-	NULL		0.393	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	G	NM_015255		42646299	+1	no_errors	ENST00000372899	ensembl	human	known	70_37	missense	SNP	1.000	A
UFL1	23376	genome.wustl.edu	37	6	96996144	96996144	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:96996144G>C	ENST00000369278.4	+	13	1573	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	503					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										GGAACTTGCTGAGTACTTAAT	0.303																																																	0													55.0	57.0	56.0					6																	96996144		2203	4299	6502	SO:0001583	missense	23376			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1507G>C	6.37:g.96996144G>C	ENSP00000358283:p.Glu503Gln		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	pfam_E3_UFM1_ligase_1	p.E503Q	ENST00000369278.4	37	c.1507	CCDS5034.1	6	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675272	0.47781	.	.	ENSG00000014123	ENST00000369278	T	0.46819	0.86	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.39245	1.2	0.80722	D	1	P	0.36733	0.567	B	0.29267	0.1	T	0.04565	-1.0942	10	0.25106	T	0.35	-27.366	17.7128	0.88326	0.0:0.0:1.0:0.0	.	503	O94874	UFL1_HUMAN	Q	503	ENSP00000358283:E503Q	ENSP00000358283:E503Q	E	+	1	0	KIAA0776	97102865	1.000000	0.71417	0.859000	0.33776	0.907000	0.53573	5.604000	0.67626	2.861000	0.98227	0.655000	0.94253	GAG	UFL1	-	NULL		0.303	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	G	NM_015323		96996144	+1	no_errors	ENST00000369278	ensembl	human	known	70_37	missense	SNP	0.997	C
UNC13A	23025	genome.wustl.edu	37	19	17756547	17756547	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:17756547G>A	ENST00000519716.2	-	19	2291	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F	UNC13A_ENST00000552293.1_Silent_p.F764F|UNC13A_ENST00000550896.1_Silent_p.F762F|UNC13A_ENST00000551649.1_Silent_p.F764F|UNC13A_ENST00000252773.7_Silent_p.F764F|UNC13A_ENST00000428389.2_Silent_p.F852F	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	764	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCTGCCCCAGGAAATCGTCAG	0.582																																																	0													85.0	89.0	88.0					19																	17756547		2150	4268	6418	SO:0001819	synonymous_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2292C>T	19.37:g.17756547G>A			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.F852	ENST00000519716.2	37	c.2556	CCDS46013.2	19																																																																																			UNC13A	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.582	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	G	XM_038604		17756547	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	silent	SNP	1.000	A
UNC13C	440279	genome.wustl.edu	37	15	54307226	54307226	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:54307226C>T	ENST00000260323.11	+	1	2126	c.2126C>T	c.(2125-2127)tCa>tTa	p.S709L	UNC13C_ENST00000537900.1_Missense_Mutation_p.S709L|UNC13C_ENST00000545554.1_Missense_Mutation_p.S709L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	709					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAGATGACTCAGAGAGCTAC	0.403																																																	0													38.0	37.0	37.0					15																	54307226		1893	4123	6016	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2126C>T	15.37:g.54307226C>T	ENSP00000260323:p.Ser709Leu		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.S709L	ENST00000260323.11	37	c.2126	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243159	0.39697	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79141	-1.24;-1.24;-1.24	5.79	5.79	0.91817	.	.	.	.	.	T	0.67859	0.2938	N	0.14661	0.345	0.28537	N	0.912305	B	0.22003	0.063	B	0.19666	0.026	T	0.63594	-0.6602	9	0.66056	D	0.02	.	18.6037	0.91259	0.0:1.0:0.0:0.0	.	709	Q8NB66	UN13C_HUMAN	L	709	ENSP00000260323:S709L;ENSP00000438156:S709L;ENSP00000442569:S709L	ENSP00000260323:S709L	S	+	2	0	UNC13C	52094518	0.996000	0.38824	0.996000	0.52242	0.991000	0.79684	3.189000	0.50965	2.737000	0.93849	0.650000	0.86243	TCA	UNC13C	-	NULL		0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	C	NM_173166		54307226	+1	no_errors	ENST00000260323	ensembl	human	known	70_37	missense	SNP	0.996	T
UNC13C	440279	genome.wustl.edu	37	15	54307319	54307319	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:54307319C>T	ENST00000260323.11	+	1	2219	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	UNC13C_ENST00000537900.1_Missense_Mutation_p.S740F|UNC13C_ENST00000545554.1_Missense_Mutation_p.S740F	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	740					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAATATGATTCTTATCAGGGA	0.413																																																	0													35.0	33.0	34.0					15																	54307319		1883	4110	5993	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2219C>T	15.37:g.54307319C>T	ENSP00000260323:p.Ser740Phe		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.S740F	ENST00000260323.11	37	c.2219	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196282	0.38806	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79845	-1.31;-1.31;-1.31	5.42	4.5	0.54988	.	.	.	.	.	T	0.65512	0.2698	N	0.19112	0.55	0.26017	N	0.981916	B	0.33379	0.41	B	0.26517	0.07	T	0.59621	-0.7420	9	0.54805	T	0.06	.	9.2364	0.37468	0.1437:0.7769:0.0:0.0794	.	740	Q8NB66	UN13C_HUMAN	F	740	ENSP00000260323:S740F;ENSP00000438156:S740F;ENSP00000442569:S740F	ENSP00000260323:S740F	S	+	2	0	UNC13C	52094611	1.000000	0.71417	0.972000	0.41901	0.985000	0.73830	3.010000	0.49559	2.531000	0.85337	0.650000	0.86243	TCT	UNC13C	-	NULL		0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	C	NM_173166		54307319	+1	no_errors	ENST00000260323	ensembl	human	known	70_37	missense	SNP	0.985	T
UNC45A	55898	genome.wustl.edu	37	15	91479682	91479682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:91479682C>T	ENST00000418476.2	+	4	458	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	UNC45A_ENST00000394275.2_Nonsense_Mutation_p.Q125*|UNC45A_ENST00000553671.2_3'UTR|AC068831.3_ENST00000448987.1_RNA|AC068831.3_ENST00000438890.1_RNA	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	140					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGGCCAGATTCAGGAGAAGGT	0.577																																																	0													46.0	47.0	47.0					15																	91479682		2198	4298	6496	SO:0001587	stop_gained	55898				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.418C>T	15.37:g.91479682C>T	ENSP00000407487:p.Gln140*		A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Nonsense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q140*	ENST00000418476.2	37	c.418	CCDS10367.1	15	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773630	0.90108	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	.	.	.	5.3	5.3	0.74995	.	0.062472	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-32.0371	19.0103	0.92870	0.0:1.0:0.0:0.0	.	.	.	.	X	125;140	.	ENSP00000377816:Q125X	Q	+	1	0	UNC45A	89280686	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.499000	0.84300	0.485000	0.47835	CAG	UNC45A	-	NULL		0.577	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	C	NM_018671		91479682	+1	no_errors	ENST00000418476	ensembl	human	known	70_37	nonsense	SNP	1.000	T
USP15	9958	genome.wustl.edu	37	12	62798108	62798108	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:62798108G>C	ENST00000280377.5	+	22	2957	c.2899G>C	c.(2899-2901)Gat>Cat	p.D967H	USP15_ENST00000393654.3_Missense_Mutation_p.D942H|USP15_ENST00000353364.3_Missense_Mutation_p.D938H	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	967					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGATAGCAATGATAATGACAA	0.398																																					Melanoma(181;615 2041 39364 49691 50001)												0													89.0	86.0	87.0					12																	62798108		2203	4300	6503	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2899G>C	12.37:g.62798108G>C	ENSP00000280377:p.Asp967His		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.D967H	ENST00000280377.5	37	c.2899	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142623	0.37825	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.21031	2.04;2.03;2.03	5.52	5.52	0.82312	.	0.232654	0.43260	D	0.000596	T	0.17704	0.0425	N	0.08118	0	0.48571	D	0.999677	B;P	0.35656	0.38;0.514	B;B	0.43575	0.243;0.424	T	0.17167	-1.0378	9	.	.	.	-14.7935	19.4419	0.94824	0.0:0.0:1.0:0.0	.	967;938	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	H	938;967;942	ENSP00000258123:D938H;ENSP00000280377:D967H;ENSP00000377264:D942H	.	D	+	1	0	USP15	61084375	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.054000	0.64275	2.593000	0.87608	0.650000	0.86243	GAT	USP15	-	NULL		0.398	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	G	NM_006313		62798108	+1	no_errors	ENST00000280377	ensembl	human	known	70_37	missense	SNP	1.000	C
USP51	158880	genome.wustl.edu	37	X	55514409	55514409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:55514409G>A	ENST00000500968.3	-	2	1046	c.964C>T	c.(964-966)Caa>Taa	p.Q322*	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	322					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATAAACTGTTGATGAGAAACA	0.338																																																	0													88.0	88.0	88.0					X																	55514409		2203	4300	6503	SO:0001587	stop_gained	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.964C>T	X.37:g.55514409G>A	ENSP00000423333:p.Gln322*		Q8IWJ8	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.Q322*	ENST00000500968.3	37	c.964	CCDS14370.1	X	.	.	.	.	.	.	.	.	.	.	.	24.2	4.500472	0.85176	.	.	ENSG00000247746	ENST00000500968	.	.	.	3.19	1.19	0.21007	.	1.468900	0.04432	U	0.369367	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	4.7598	0.13102	0.0:0.2408:0.5088:0.2505	.	.	.	.	X	322	.	ENSP00000423333:Q322X	Q	-	1	0	USP51	55531134	1.000000	0.71417	0.944000	0.38274	0.978000	0.69477	1.075000	0.30716	0.178000	0.19917	0.508000	0.49915	CAA	USP51	-	NULL		0.338	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	G	NM_201286		55514409	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	nonsense	SNP	0.871	A
VAV1	7409	genome.wustl.edu	37	19	6828096	6828096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:6828096C>T	ENST00000602142.1	+	10	1019	c.937C>T	c.(937-939)Cag>Tag	p.Q313*	VAV1_ENST00000596764.1_Nonsense_Mutation_p.Q281*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.Q216*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.Q313*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.Q258*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	313	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGAATGTTCTCAGAGAGCCAA	0.527																																																	0													72.0	68.0	69.0					19																	6828096		2203	4300	6503	SO:0001587	stop_gained	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.937C>T	19.37:g.6828096C>T	ENSP00000472929:p.Gln313*		B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.Q313*	ENST00000602142.1	37	c.937	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323841	0.81580	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	4.63	4.63	0.57726	.	0.134965	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0104	0.71545	0.0:1.0:0.0:0.0	.	.	.	.	X	313;216	.	ENSP00000302269:Q313X	Q	+	1	0	VAV1	6779096	0.998000	0.40836	0.995000	0.50966	0.374000	0.29953	2.774000	0.47694	2.146000	0.66826	0.563000	0.77884	CAG	VAV1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.527	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	C			6828096	+1	no_errors	ENST00000602142	ensembl	human	known	70_37	nonsense	SNP	1.000	T
VCAN	1462	genome.wustl.edu	37	5	82876341	82876341	+	3'UTR	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr5:82876341C>T	ENST00000265077.3	+	0	10844				VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_3'UTR|VCAN_ENST00000512590.2_3'UTR|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGTAATTATCAGTTGGTTTG	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.*88C>T	5.37:g.82876341C>T			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	RNA	SNP	-	NULL	ENST00000265077.3	37	NULL	CCDS4060.1	5																																																																																			VCAN	-	-		0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	C	NM_004385		82876341	+1	no_errors	ENST00000513016	ensembl	human	known	70_37	rna	SNP	0.972	T
VCPIP1	80124	genome.wustl.edu	37	8	67577840	67577840	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:67577840C>G	ENST00000310421.4	-	1	1612	c.1354G>C	c.(1354-1356)Gaa>Caa	p.E452Q	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	452					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GCTGTGACTTCCTCAGGCTGA	0.438																																					NSCLC(179;265 2915 6144 43644)												0													130.0	129.0	129.0					8																	67577840		2203	4300	6503	SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1354G>C	8.37:g.67577840C>G	ENSP00000309031:p.Glu452Gln		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.E452Q	ENST00000310421.4	37	c.1354	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786620	0.49997	.	.	ENSG00000175073	ENST00000310421	T	0.33438	1.41	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	L	0.54323	1.7	0.80722	D	1	P	0.38395	0.629	B	0.34991	0.193	T	0.07539	-1.0767	10	0.41790	T	0.15	-15.9666	19.6397	0.95753	0.0:1.0:0.0:0.0	.	452	Q96JH7	VCIP1_HUMAN	Q	452	ENSP00000309031:E452Q	ENSP00000309031:E452Q	E	-	1	0	VCPIP1	67740394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.632000	0.89209	0.655000	0.94253	GAA	VCPIP1	-	NULL		0.438	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	C			67577840	-1	no_errors	ENST00000310421	ensembl	human	known	70_37	missense	SNP	1.000	G
VCX3B	425054	genome.wustl.edu	37	X	8434034	8434034	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:8434034G>C	ENST00000381032.1	+	3	658	c.351G>C	c.(349-351)gaG>gaC	p.E117D	VCX3B_ENST00000381029.4_Intron|VCX3B_ENST00000453306.1_Missense_Mutation_p.E117D|VCX3B_ENST00000444481.1_Missense_Mutation_p.E117D|VCX3B_ENST00000440654.2_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	117	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						TGAGTCAGGAGAGCGAGGTGG	0.632																																																	0													3.0	6.0	6.0					X																	8434034		613	2622	3235	SO:0001583	missense	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.351G>C	X.37:g.8434034G>C	ENSP00000370420:p.Glu117Asp		C9JS46|Q4KN12	Missense_Mutation	SNP	NULL	p.E117D	ENST00000381032.1	37	c.351	CCDS48077.2	X	.	.	.	.	.	.	.	.	.	.	G	7.765	0.706228	0.15239	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481	T;T;T	0.21031	2.03;2.03;2.03	0.669	0.669	0.17918	.	.	.	.	.	T	0.10252	0.0251	L	0.27053	0.805	0.09310	N	1	P;P	0.41041	0.736;0.736	B;B	0.31614	0.133;0.133	T	0.23619	-1.0183	9	0.87932	D	0	.	2.9739	0.05932	0.3497:0.0:0.6503:0.0	.	117;117	Q9H321;E7ERZ8	VCX3B_HUMAN;.	D	117	ENSP00000370420:E117D;ENSP00000411785:E117D;ENSP00000414780:E117D	ENSP00000370420:E117D	E	+	3	2	VCX3B	8394034	0.127000	0.22367	0.001000	0.08648	0.001000	0.01503	0.544000	0.23253	0.632000	0.30432	0.453000	0.30009	GAG	VCX3B	-	NULL		0.632	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	VCX3B	HGNC	protein_coding	OTTHUMT00000055691.1	G			8434034	+1	no_errors	ENST00000444481	ensembl	human	known	70_37	missense	SNP	0.001	C
VPS13B	157680	genome.wustl.edu	37	8	100712049	100712049	+	Nonsense_Mutation	SNP	C	C	T	rs386834101		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:100712049C>T	ENST00000358544.2	+	36	6529	c.6418C>T	c.(6418-6420)Cag>Tag	p.Q2140*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q2115*|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2140					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAAACTACTCAGATTGTGAT	0.413																																					Colon(161;2205 2542 7338 31318)												0													94.0	83.0	87.0					8																	100712049		2203	4300	6503	SO:0001587	stop_gained	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6418C>T	8.37:g.100712049C>T	ENSP00000351346:p.Gln2140*		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.Q2140*	ENST00000358544.2	37	c.6418	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	48	14.192872	0.99784	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	.	.	.	X	2115;2140	.	ENSP00000349685:Q2115X	Q	+	1	0	VPS13B	100781225	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.422000	0.73357	2.761000	0.94854	0.655000	0.94253	CAG	VPS13B	-	NULL		0.413	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	C	NM_184042		100712049	+1	no_errors	ENST00000358544	ensembl	human	known	70_37	nonsense	SNP	1.000	T
VPS33B	26276	genome.wustl.edu	37	15	91549239	91549239	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:91549239C>T	ENST00000333371.3	-	12	1256	c.903G>A	c.(901-903)ttG>ttA	p.L301L	VPS33B_ENST00000535843.1_Silent_p.L210L|VPS33B_ENST00000535906.1_Silent_p.L274L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	301					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCTTCTGGCTCAAGAAGCCAA	0.507																																																	0													53.0	51.0	51.0					15																	91549239		2198	4298	6496	SO:0001819	synonymous_variant	26276			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.903G>A	15.37:g.91549239C>T			B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.L301	ENST00000333371.3	37	c.903	CCDS10369.1	15																																																																																			VPS33B	-	pfam_Sec1-like,superfamily_Sec1-like		0.507	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33B	HGNC	protein_coding	OTTHUMT00000313496.1	C	NM_018668		91549239	-1	no_errors	ENST00000333371	ensembl	human	known	70_37	silent	SNP	1.000	T
VWA5B2	90113	genome.wustl.edu	37	3	183951032	183951032	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:183951032C>T	ENST00000426955.2	+	3	477	c.377C>T	c.(376-378)gCg>gTg	p.A126V	EIF2B5_ENST00000444495.1_Intron|VWA5B2_ENST00000273794.5_5'Flank	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	126	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.									breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						ATTATCGCCGCGGCTGGCACC	0.642																																																	0													15.0	18.0	17.0					3																	183951032		692	1591	2283	SO:0001583	missense	90113				CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.377C>T	3.37:g.183951032C>T	ENSP00000398688:p.Ala126Val		B9EGN7	Missense_Mutation	SNP	NULL	p.A126V	ENST00000426955.2	37	c.377	CCDS54686.1	3	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471988	0.63737	.	.	ENSG00000145198	ENST00000426955	T	0.47528	0.84	4.37	4.37	0.52481	.	.	.	.	.	T	0.30479	0.0766	N	0.14661	0.345	0.80722	D	1	P	0.51653	0.947	B	0.38327	0.271	T	0.34800	-0.9814	9	0.66056	D	0.02	-5.6302	14.8068	0.69962	0.0:1.0:0.0:0.0	.	126	B9EGN7	.	V	126	ENSP00000398688:A126V	ENSP00000398688:A126V	A	+	2	0	VWA5B2	185433726	0.917000	0.31117	0.282000	0.24776	0.973000	0.67179	6.370000	0.73114	2.426000	0.82243	0.561000	0.74099	GCG	VWA5B2	-	NULL		0.642	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5B2	HGNC	protein_coding	OTTHUMT00000346004.2	C	XM_291077		183951032	+1	no_errors	ENST00000426955	ensembl	human	known	70_37	missense	SNP	0.790	T
VWA5B2	90113	genome.wustl.edu	37	3	183953000	183953000	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:183953000G>A	ENST00000426955.2	+	7	1105	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L	EIF2B5_ENST00000444495.1_Intron|VWA5B2_ENST00000273794.5_Silent_p.L116L	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	346										breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						TGCTGGCGCTGAGCTTCTGCC	0.622																																																	0													45.0	50.0	48.0					3																	183953000		692	1591	2283	SO:0001819	synonymous_variant	90113				CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.1005G>A	3.37:g.183953000G>A			B9EGN7	Silent	SNP	NULL	p.L335	ENST00000426955.2	37	c.1005	CCDS54686.1	3																																																																																			VWA5B2	-	NULL		0.622	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5B2	HGNC	protein_coding	OTTHUMT00000346004.2	G	XM_291077		183953000	+1	no_errors	ENST00000426955	ensembl	human	known	70_37	silent	SNP	1.000	A
VPS8	23355	genome.wustl.edu	37	3	184642661	184642661	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:184642661G>A	ENST00000437079.3	+	30	2637	c.2466G>A	c.(2464-2466)gaG>gaA	p.E822E	VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000446204.2_Silent_p.E730E|VPS8_ENST00000436792.2_Silent_p.E820E|VPS8_ENST00000287546.4_Silent_p.E822E	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	822							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTATGGTGGAGAATTCAGACT	0.398																																																	0													131.0	119.0	123.0					3																	184642661		1896	4117	6013	SO:0001819	synonymous_variant	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2466G>A	3.37:g.184642661G>A			A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Silent	SNP	superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E822	ENST00000437079.3	37	c.2466	CCDS46971.1	3																																																																																			VPS8	-	superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold		0.398	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		G	NM_015303		184642661	+1	no_errors	ENST00000287546	ensembl	human	known	70_37	silent	SNP	1.000	A
WASF2	10163	genome.wustl.edu	37	1	27742548	27742548	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:27742548G>C	ENST00000430629.2	-	5	683	c.468C>G	c.(466-468)ttC>ttG	p.F156L	WASF2_ENST00000536657.1_Missense_Mutation_p.F156L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	156					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AAAGATCAAAGAAGTATGAAG	0.463																																																	0													215.0	186.0	196.0					1																	27742548		2203	4300	6503	SO:0001583	missense	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.468C>G	1.37:g.27742548G>C	ENSP00000396211:p.Phe156Leu		B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.F156L	ENST00000430629.2	37	c.468	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285604	0.80803	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.64260	-0.09;0.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84220	0.5424	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	D	0.87548	0.2463	10	0.87932	D	0	-8.7046	18.9786	0.92747	0.0:0.0:1.0:0.0	.	156;156	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	L	156	ENSP00000396211:F156L;ENSP00000439883:F156L	ENSP00000396211:F156L	F	-	3	2	WASF2	27615135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.578000	0.87016	0.563000	0.77884	TTC	WASF2	-	NULL		0.463	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1	G	NM_006990		27742548	-1	no_errors	ENST00000430629	ensembl	human	known	70_37	missense	SNP	1.000	C
WASL	8976	genome.wustl.edu	37	7	123388786	123388786	+	Start_Codon_SNP	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:123388786C>T	ENST00000223023.4	-	1	335	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-390E23.6_ENST00000607957.1_RNA	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	1					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACGGAGCTCATGGTTTCGC	0.692																																																	0													19.0	20.0	20.0					7																	123388786		2200	4294	6494	SO:0001582	initiator_codon_variant	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.3G>A	7.37:g.123388786C>T	ENSP00000223023:p.Met1Ile		A1JUI9|Q7Z746	Missense_Mutation	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.M1I	ENST00000223023.4	37	c.3	CCDS34743.1	7	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817761	0.71028	.	.	ENSG00000106299	ENST00000223023;ENST00000536685	D	0.99677	-6.37	4.91	4.91	0.64330	.	0.228496	0.32548	U	0.005954	D	0.98830	0.9605	.	.	.	0.80722	D	1	B	0.18461	0.028	B	0.11329	0.006	D	0.98472	1.0601	9	0.87932	D	0	-8.3455	15.2563	0.73588	0.0:1.0:0.0:0.0	.	1	O00401	WASL_HUMAN	I	1	ENSP00000223023:M1I	ENSP00000223023:M1I	M	-	3	0	WASL	123176022	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.308000	0.43690	2.260000	0.74910	0.557000	0.71058	ATG	WASL	-	NULL		0.692	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1	C	NM_003941	Missense_Mutation	123388786	-1	no_errors	ENST00000223023	ensembl	human	known	70_37	missense	SNP	1.000	T
WDFY2	115825	genome.wustl.edu	37	13	52293346	52293346	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr13:52293346G>C	ENST00000298125.5	+	5	527	c.347G>C	c.(346-348)aGa>aCa	p.R116T		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	116							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CATCAGAGCAGAGTGACGATG	0.512																																																	0													144.0	131.0	135.0					13																	52293346		2203	4300	6503	SO:0001583	missense	115825			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.347G>C	13.37:g.52293346G>C	ENSP00000298125:p.Arg116Thr		B1AL86|Q96CS1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R116T	ENST00000298125.5	37	c.347	CCDS9429.1	13	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299100	0.60195	.	.	ENSG00000139668	ENST00000298125	T	0.65364	-0.15	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045076	0.85682	D	0.000000	T	0.62865	0.2463	M	0.66378	2.025	0.80722	D	1	P;B	0.47762	0.9;0.039	P;B	0.44811	0.461;0.018	T	0.61758	-0.6997	10	0.08837	T	0.75	-17.9355	17.8594	0.88776	0.0:0.0:1.0:0.0	.	13;116	Q96LK4;Q96P53	.;WDFY2_HUMAN	T	116	ENSP00000298125:R116T	ENSP00000298125:R116T	R	+	2	0	WDFY2	51191347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.459000	0.83118	0.650000	0.86243	AGA	WDFY2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.512	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY2	HGNC	protein_coding	OTTHUMT00000045985.3	G	NM_052950		52293346	+1	no_errors	ENST00000298125	ensembl	human	known	70_37	missense	SNP	1.000	C
WDR11	55717	genome.wustl.edu	37	10	122664255	122664255	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:122664255C>T	ENST00000263461.6	+	25	3371	c.3125C>T	c.(3124-3126)tCg>tTg	p.S1042L	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ACTGTCACCTCGTCAGGCCCC	0.453																																																	0													140.0	126.0	131.0					10																	122664255		2203	4300	6503	SO:0001583	missense	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3125C>T	10.37:g.122664255C>T	ENSP00000263461:p.Ser1042Leu		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.S1042L	ENST00000263461.6	37	c.3125	CCDS7619.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.302890	0.95601	.	.	ENSG00000120008	ENST00000263461	D	0.92595	-3.07	5.97	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.95701	0.8602	M	0.80183	2.485	0.58432	D	0.999998	B;B;D;B	0.89917	0.004;0.004;1.0;0.001	B;B;D;B	0.66847	0.001;0.002;0.947;0.001	D	0.95892	0.8908	10	0.59425	D	0.04	-10.4783	15.1845	0.72989	0.0:0.9328:0.0:0.0672	.	1042;1042;333;571	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	L	1042	ENSP00000263461:S1042L	ENSP00000263461:S1042L	S	+	2	0	WDR11	122654245	1.000000	0.71417	0.887000	0.34795	0.990000	0.78478	7.456000	0.80751	1.541000	0.49316	0.655000	0.94253	TCG	WDR11	-	NULL		0.453	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2	C			122664255	+1	no_errors	ENST00000263461	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR27	253769	genome.wustl.edu	37	6	170043795	170043795	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:170043795G>A	ENST00000448612.1	-	17	1854	c.1745C>T	c.(1744-1746)tCa>tTa	p.S582L	WDR27_ENST00000423258.1_Missense_Mutation_p.S455L|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.S582L	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	552						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TGTTTTACCTGAAAACACAGC	0.453																																																	0													49.0	52.0	51.0					6																	170043795		1895	4114	6009	SO:0001583	missense	253769			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1745C>T	6.37:g.170043795G>A	ENSP00000416289:p.Ser582Leu		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S582L	ENST00000448612.1	37	c.1745	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212859	0.58452	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.60548	0.91;0.92;0.18	5.19	4.23	0.50019	.	0.766918	0.11659	N	0.542062	T	0.53932	0.1827	L	0.35793	1.09	0.80722	D	1	P;D;P	0.76494	0.473;0.999;0.921	B;D;P	0.65443	0.146;0.935;0.744	T	0.53005	-0.8499	10	0.49607	T	0.09	-26.1796	9.0407	0.36316	0.0868:0.0:0.754:0.1592	.	582;455;582	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	L	582;582;455	ENSP00000416289:S582L;ENSP00000330265:S582L;ENSP00000397869:S455L	ENSP00000330265:S582L	S	-	2	0	WDR27	169785720	1.000000	0.71417	0.967000	0.41034	0.875000	0.50365	1.491000	0.35583	2.420000	0.82092	0.591000	0.81541	TCA	WDR27	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.453	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	G	NM_182552		170043795	-1	no_errors	ENST00000448612	ensembl	human	known	70_37	missense	SNP	0.928	A
WFS1	7466	genome.wustl.edu	37	4	6279366	6279366	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr4:6279366G>A	ENST00000226760.1	+	2	354	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	WFS1_ENST00000503569.1_Missense_Mutation_p.E62K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	62					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGCCCCCGCTGAACCCCAGGC	0.682																																																	0													10.0	11.0	11.0					4																	6279366		2152	4225	6377	SO:0001583	missense	7466			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.184G>A	4.37:g.6279366G>A	ENSP00000226760:p.Glu62Lys		B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	NULL	p.E62K	ENST00000226760.1	37	c.184	CCDS3386.1	4	.	.	.	.	.	.	.	.	.	.	G	6.414	0.444467	0.12164	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.93019	-3.15;-3.15	3.42	-2.44	0.06502	.	2.790640	0.01360	N	0.012197	D	0.87521	0.6198	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.75453	-0.3312	10	0.34782	T	0.22	-0.3836	8.4438	0.32830	0.5216:0.0:0.4784:0.0	.	62	O76024	WFS1_HUMAN	K	62	ENSP00000423337:E62K;ENSP00000226760:E62K	ENSP00000226760:E62K	E	+	1	0	WFS1	6330267	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.741000	0.04855	-0.641000	0.05487	0.462000	0.41574	GAA	WFS1	-	NULL		0.682	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	HGNC	protein_coding	OTTHUMT00000206863.1	G			6279366	+1	no_errors	ENST00000226760	ensembl	human	known	70_37	missense	SNP	0.000	A
WHAMM	123720	genome.wustl.edu	37	15	83499688	83499688	+	Missense_Mutation	SNP	G	G	A	rs201723993		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr15:83499688G>A	ENST00000286760.4	+	9	2078	c.1979G>A	c.(1978-1980)cGt>cAt	p.R660H		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	660	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						CCTCCTCTCCGTGCTCTGTCC	0.587																																																	0								G	HIS/ARG	2,3946		0,2,1972	26.0	28.0	27.0		1979	3.7	0.0	15		27	8,8280		0,8,4136	yes	missense	WHAMM	NM_001080435.1	29	0,10,6108	AA,AG,GG		0.0965,0.0507,0.0817	benign	660/810	83499688	10,12226	1974	4144	6118	SO:0001583	missense	123720			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1979G>A	15.37:g.83499688G>A	ENSP00000286760:p.Arg660His		Q8N1J9	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.R660H	ENST00000286760.4	37	c.1979	CCDS45333.1	15	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206364	0.39003	5.07E-4	9.65E-4	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.08282	3.11	4.58	3.67	0.42095	.	.	.	.	.	T	0.03871	0.0109	N	0.02539	-0.55	0.09310	N	1	B	0.24368	0.102	B	0.09377	0.004	T	0.39375	-0.9617	9	0.44086	T	0.13	.	12.0197	0.53336	0.0:0.8249:0.1751:0.0	.	660	Q8TF30	WHAMM_HUMAN	H	660	ENSP00000286760:R660H	ENSP00000234505:R660H	R	+	2	0	WHAMM	81296742	0.227000	0.23707	0.010000	0.14722	0.363000	0.29612	0.805000	0.27112	1.154000	0.42482	-1.088000	0.02184	CGT	WHAMM	-	NULL		0.587	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	G			83499688	+1	no_errors	ENST00000286760	ensembl	human	known	70_37	missense	SNP	0.038	A
WIPF1	7456	genome.wustl.edu	37	2	175436510	175436510	+	Silent	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:175436510G>C	ENST00000392547.2	-	5	1122	c.1023C>G	c.(1021-1023)ctC>ctG	p.L341L	WIPF1_ENST00000272746.5_Silent_p.L341L|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Silent_p.L341L|WIPF1_ENST00000392546.2_Silent_p.L341L|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000409891.1_Silent_p.L341L|WIPF1_ENST00000409415.3_Silent_p.L341L|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	341	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGGACGAACTGAGGGACAGAT	0.677																																																	0													51.0	51.0	51.0					2																	175436510		2203	4300	6503	SO:0001819	synonymous_variant	7456			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1023C>G	2.37:g.175436510G>C			B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	smart_WH2_dom,pfscan_WH2_dom	p.L341	ENST00000392547.2	37	c.1023	CCDS2260.1	2																																																																																			WIPF1	-	NULL		0.677	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	G	NM_003387		175436510	-1	no_errors	ENST00000272746	ensembl	human	known	70_37	silent	SNP	0.003	C
WNK3	65267	genome.wustl.edu	37	X	54278033	54278033	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:54278033G>A	ENST00000375159.2	-	13	2454	c.2455C>T	c.(2455-2457)Cat>Tat	p.H819Y	WNK3_ENST00000354646.2_Missense_Mutation_p.H819Y|WNK3_ENST00000375169.3_Missense_Mutation_p.H819Y			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	819					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AAGTGGACATGAAGGATCTCC	0.413																																																	0													94.0	87.0	90.0					X																	54278033		2203	4300	6503	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2455C>T	X.37:g.54278033G>A	ENSP00000364301:p.His819Tyr		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H819Y	ENST00000375159.2	37	c.2455	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536042	0.45176	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.29142	1.58;1.58;1.58	5.31	5.31	0.75309	.	0.106936	0.42172	D	0.000744	T	0.28764	0.0713	N	0.24115	0.695	0.25840	N	0.984063	P;P	0.47604	0.898;0.837	P;B	0.47075	0.536;0.335	T	0.10917	-1.0609	10	0.27785	T	0.31	-12.115	16.7351	0.85445	0.0:0.0:1.0:0.0	.	819;819	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Y	819	ENSP00000364312:H819Y;ENSP00000346667:H819Y;ENSP00000364301:H819Y	ENSP00000346667:H819Y	H	-	1	0	WNK3	54294758	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.249000	0.58766	2.212000	0.71576	0.422000	0.28245	CAT	WNK3	-	NULL		0.413	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	G	NM_020922		54278033	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	missense	SNP	0.999	A
WRNIP1	56897	genome.wustl.edu	37	6	2779572	2779572	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr6:2779572G>A	ENST00000380773.4	+	4	1541	c.1332G>A	c.(1330-1332)ttG>ttA	p.L444L	WRNIP1_ENST00000380769.4_Silent_p.L224L|WRNIP1_ENST00000380771.4_Silent_p.L419L|WRNIP1_ENST00000380764.1_Silent_p.L60L	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GAGCTGGGTTGAACGGACTGC	0.522																																																	0													110.0	99.0	103.0					6																	2779572		2203	4300	6503	SO:0001819	synonymous_variant	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1332G>A	6.37:g.2779572G>A				Silent	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.L444	ENST00000380773.4	37	c.1332	CCDS4475.1	6																																																																																			WRNIP1	-	NULL		0.522	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	G	NM_130395		2779572	+1	no_errors	ENST00000380773	ensembl	human	known	70_37	silent	SNP	0.994	A
WWOX	51741	genome.wustl.edu	37	16	78466537	78466537	+	Missense_Mutation	SNP	G	G	A	rs530883793		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:78466537G>A	ENST00000566780.1	+	8	1310	c.944G>A	c.(943-945)gGg>gAg	p.G315E	WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.G315E	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	315	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TCCCCACGCGGGGTCACGTCG	0.537																																																	0													133.0	136.0	135.0					16																	78466537		2072	4210	6282	SO:0001583	missense	51741			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.944G>A	16.37:g.78466537G>A	ENSP00000457230:p.Gly315Glu		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH	p.G315E	ENST00000566780.1	37	c.944	CCDS42196.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024194	0.75390	.	.	ENSG00000186153	ENST00000408984	D	0.93133	-3.17	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.97060	0.9770	10	0.72032	D	0.01	.	20.3261	0.98701	0.0:0.0:1.0:0.0	.	315	Q9NZC7	WWOX_HUMAN	E	315	ENSP00000386161:G315E	ENSP00000386161:G315E	G	+	2	0	WWOX	77024038	1.000000	0.71417	0.992000	0.48379	0.156000	0.22039	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GGG	WWOX	-	prints_Glc/ribitol_DH		0.537	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	G			78466537	+1	no_errors	ENST00000566780	ensembl	human	known	70_37	missense	SNP	1.000	A
TSIX	9383	genome.wustl.edu	37	X	73043746	73043746	+	lincRNA	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:73043746G>A	ENST00000604411.1	+	0	31707				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		ATGTAGTTCCGAGCCCCACAG	0.373																																																	0													30.0	31.0	31.0					X																	73043746		876	1991	2867			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73043746G>A				RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-		0.373	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	G	NR_003255		73043746	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	A
XIST	7503	genome.wustl.edu	37	X	73064199	73064199	+	lincRNA	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:73064199G>A	ENST00000429829.1	-	0	8389					NR_001564.2				X inactive specific transcript (non-protein coding)																		ACTCCTTGTTGAAAAGCAAAG	0.393																																																	0													59.0	59.0	59.0					X																	73064199		876	1991	2867			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73064199G>A				RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.393	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	G	NR_001564		73064199	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	A
XIST	7503	genome.wustl.edu	37	X	73072124	73072124	+	lincRNA	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:73072124G>A	ENST00000429829.1	-	0	464					NR_001564.2				X inactive specific transcript (non-protein coding)																		CCGCGGCCCCGATGGGCGAAT	0.493																																																	0													17.0	17.0	17.0					X																	73072124		875	1989	2864			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73072124G>A				RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.493	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	G	NR_001564		73072124	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	1.000	A
ZAK	51776	genome.wustl.edu	37	2	174086208	174086208	+	Intron	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr2:174086208G>A	ENST00000375213.3	+	11	1065				MLTK_ENST00000539448.1_Missense_Mutation_p.D440N|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000338983.3_Missense_Mutation_p.D440N|MLTK_ENST00000431503.2_Missense_Mutation_p.D339N|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)	p.D440N(1)									tgacgatgatgatgatgatga	0.393																																																	1	Substitution - Missense(1)	cervix(1)											50.0	48.0	49.0					2																	174086208		2203	4300	6503	SO:0001627	intron_variant	51776																														ENST00000375213.3:c.987+4230G>A	2.37:g.174086208G>A			B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D440N	ENST00000375213.3	37	c.1318	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772281	0.49680	.	.	ENSG00000091436	ENST00000539448;ENST00000338983;ENST00000431503	T;T;D	0.81579	-1.09;-1.09;-1.51	5.34	4.25	0.50352	.	.	.	.	.	T	0.65719	0.2718	N	0.14661	0.345	0.21445	N	0.999683	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.56341	-0.7995	9	0.87932	D	0	.	8.143	0.31095	0.1891:0.0:0.8109:0.0	.	440;440	A8K710;D4Q8H0	.;.	N	440;440;339	ENSP00000439414:D440N;ENSP00000340257:D440N;ENSP00000399787:D339N	ENSP00000340257:D440N	D	+	1	0	AC013461.1	173794454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.826000	0.48104	2.526000	0.85167	0.650000	0.86243	GAT	MLTK	-	NULL		0.393	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_genename	protein_coding	OTTHUMT00000255401.1	G			174086208	+1	no_errors	ENST00000338983	ensembl	human	known	70_37	missense	SNP	1.000	A
ZAN	7455	genome.wustl.edu	37	7	100391775	100391775	+	RNA	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:100391775C>G	ENST00000348028.3	+	0	8016				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGACTGCTCTCAGCGGTGCAC	0.627																																																	0													58.0	63.0	61.0					7																	100391775		2047	4209	6256			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100391775C>G			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_TIL_dom,pfam_Unchr_dom_Cys-rich,pfam_EG-like_dom,superfamily_TIL_dom,smart_EG-like_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_EG-like_dom	p.Q1045E	ENST00000348028.3	37	c.3133		7	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461495	0.43736	.	.	ENSG00000146839	ENST00000546213	T	0.05139	3.49	4.58	2.55	0.30701	von Willebrand factor, type C (1);	.	.	.	.	T	0.05044	0.0135	.	.	.	0.19300	N	0.999977	B;B	0.19331	0.035;0.021	B;B	0.21360	0.015;0.034	T	0.39603	-0.9606	8	0.25751	T	0.34	.	10.3598	0.43987	0.0:0.6094:0.3905:0.0	.	1045;2674	F5GX59;Q9Y493	.;ZAN_HUMAN	E	1045	ENSP00000441117:Q1045E	ENSP00000441117:Q1045E	Q	+	1	0	ZAN	100229711	0.957000	0.32711	0.878000	0.34440	0.520000	0.34377	2.252000	0.43196	1.214000	0.43395	0.491000	0.48974	CAG	ZAN	-	smart_VWC_out		0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100391775	+1	no_errors	ENST00000546213	ensembl	human	known	70_37	missense	SNP	0.890	G
ZBBX	79740	genome.wustl.edu	37	3	167090681	167090681	+	Silent	SNP	T	T	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr3:167090681T>C	ENST00000392766.2	-	4	349	c.9A>G	c.(7-9)agA>agG	p.R3R	ZBBX_ENST00000455345.2_Silent_p.R3R|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_5'UTR|ZBBX_ENST00000392767.2_Silent_p.R3R|ZBBX_ENST00000307529.5_Silent_p.R3R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	3						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAAAATCTTTTCTGTTCATGA	0.299																																																	0													52.0	52.0	52.0					3																	167090681		1791	4050	5841	SO:0001819	synonymous_variant	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.9A>G	3.37:g.167090681T>C			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	pfam_Znf_B-box	p.R3	ENST00000392766.2	37	c.9	CCDS3199.2	3																																																																																			ZBBX	-	NULL		0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	T	NM_024687		167090681	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	silent	SNP	1.000	C
ZBP1	81030	genome.wustl.edu	37	20	56191472	56191472	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:56191472C>T	ENST00000371173.3	-	2	264	c.87G>A	c.(85-87)gtG>gtA	p.V29V	ZBP1_ENST00000541799.1_Silent_p.V29V|ZBP1_ENST00000343535.4_Silent_p.V29V|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000340462.4_Silent_p.V29V	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	29					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGGCAAGTTTCACCGGGGAGC	0.577																																																	0													99.0	97.0	98.0					20																	56191472		2203	4300	6503	SO:0001819	synonymous_variant	81030			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.87G>A	20.37:g.56191472C>T			A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase	p.V29	ENST00000371173.3	37	c.87	CCDS13461.1	20																																																																																			ZBP1	-	pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase		0.577	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBP1	HGNC	protein_coding	OTTHUMT00000079849.1	C	NM_030776		56191472	-1	no_errors	ENST00000343535	ensembl	human	known	70_37	silent	SNP	0.018	T
ZC3H11A	9877	genome.wustl.edu	37	1	203771389	203771389	+	5'UTR	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:203771389C>T	ENST00000545588.1	+	0	2927				ZC3H11A_ENST00000367214.1_Intron|ZC3H11A_ENST00000332127.4_Intron|ZC3H11A_ENST00000367212.3_Intron	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A						poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATTTACCTTCGTCTTTATTT	0.294																																																	0																																										SO:0001623	5_prime_UTR_variant	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.-901C>T	1.37:g.203771389C>T			Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	RNA	SNP	-	NULL	ENST00000545588.1	37	NULL	CCDS30978.1	1																																																																																			ZC3H11A	-	-		0.294	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	C	NM_014827		203771389	+1	no_errors	ENST00000461980	ensembl	human	known	70_37	rna	SNP	0.001	T
ZCCHC6	79670	genome.wustl.edu	37	9	88967805	88967805	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:88967805C>G	ENST00000375963.3	-	2	482	c.310G>C	c.(310-312)Gat>Cat	p.D104H	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.D104H|ZCCHC6_ENST00000375947.1_5'Flank|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.D104H|ZCCHC6_ENST00000277141.6_5'UTR	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	104					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTATGTTCATCAGACAGCCAT	0.398																																																	0													197.0	192.0	194.0					9																	88967805		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.310G>C	9.37:g.88967805C>G	ENSP00000365130:p.Asp104His		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.D104H	ENST00000375963.3	37	c.310	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129186	0.77549	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.63255	-0.03;-0.03;0.07	5.03	5.03	0.67393	.	0.078821	0.52532	D	0.000077	T	0.71256	0.3318	L	0.29908	0.895	0.47994	D	0.999561	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.995	D;D;D;D;D	0.91635	0.999;0.999;0.988;0.964;0.92	T	0.74925	-0.3498	10	0.87932	D	0	-6.0442	18.5494	0.91058	0.0:1.0:0.0:0.0	.	104;104;104;104;104	Q5VYS8-3;Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;.;TUT7_HUMAN	H	104	ENSP00000365127:D104H;ENSP00000365128:D104H;ENSP00000365130:D104H	ENSP00000365127:D104H	D	-	1	0	ZCCHC6	88157625	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.864000	0.62990	2.601000	0.87937	0.591000	0.81541	GAT	ZCCHC6	-	NULL		0.398	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	C	NM_024617		88967805	-1	no_errors	ENST00000375963	ensembl	human	known	70_37	missense	SNP	1.000	G
ZCCHC8	55596	genome.wustl.edu	37	12	122962766	122962766	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr12:122962766G>C	ENST00000336229.4	-	12	1344	c.1214C>G	c.(1213-1215)tCt>tGt	p.S405C	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.S16C|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.S167C|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.S167C	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	405					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTGGAAGTTAGAAGTAAGGTA	0.378																																																	0													61.0	56.0	57.0					12																	122962766		1903	4121	6024	SO:0001583	missense	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1214C>G	12.37:g.122962766G>C	ENSP00000337313:p.Ser405Cys		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.S405C	ENST00000336229.4	37	c.1214		12	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348953	0.82132	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892;ENST00000544054;ENST00000536663	T;T;T;T	0.52295	0.79;0.79;0.78;0.67	5.94	5.94	0.96194	.	0.203591	0.50627	D	0.000114	T	0.60483	0.2272	L	0.56769	1.78	0.41225	D	0.98653	D	0.62365	0.991	P	0.52710	0.707	T	0.61623	-0.7025	10	0.66056	D	0.02	-16.3726	20.3736	0.98901	0.0:0.0:1.0:0.0	.	405	Q6NZY4	ZCHC8_HUMAN	C	167;167;405;16;16;167;167	ENSP00000441423:S167C;ENSP00000438993:S167C;ENSP00000337313:S405C;ENSP00000440028:S16C	ENSP00000337313:S405C	S	-	2	0	ZCCHC8	121528719	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.534000	0.60622	2.820000	0.97059	0.650000	0.86243	TCT	ZCCHC8	-	NULL		0.378	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		G	NM_017612		122962766	-1	no_errors	ENST00000336229	ensembl	human	known	70_37	missense	SNP	1.000	C
ZFHX2	85446	genome.wustl.edu	37	14	23993993	23993993	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr14:23993993C>T	ENST00000419474.3	-	9	5513	c.5158G>A	c.(5158-5160)Gag>Aag	p.E1720K	ZFHX2_ENST00000606808.1_5'Flank|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	1720	Glu-rich.				adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						TGTtcctcctctacttcttct	0.577																																																	0																																										SO:0001583	missense	85446			AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.5158G>A	14.37:g.23993993C>T	ENSP00000413418:p.Glu1720Lys		Q9UPU6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E1720K	ENST00000419474.3	37	c.5158	CCDS55907.1	14	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716538	0.30413	.	.	ENSG00000136367	ENST00000419474	T	0.79352	-1.26	4.58	4.58	0.56647	.	0.183972	0.26397	N	0.024618	T	0.68348	0.2991	L	0.32530	0.975	0.25941	N	0.982876	P	0.46784	0.884	B	0.41466	0.358	T	0.61431	-0.7064	10	0.19147	T	0.46	.	16.3125	0.82898	0.0:1.0:0.0:0.0	.	1720	Q9C0A1	ZFHX2_HUMAN	K	1720	ENSP00000413418:E1720K	ENSP00000413418:E1720K	E	-	1	0	ZFHX2	23063833	0.940000	0.31905	0.935000	0.37517	0.827000	0.46813	3.412000	0.52679	2.371000	0.80710	0.313000	0.20887	GAG	ZFHX2	-	NULL		0.577	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	C	NM_014894		23993993	-1	no_errors	ENST00000419474	ensembl	human	known	70_37	missense	SNP	0.988	T
ZFHX3	463	genome.wustl.edu	37	16	72829029	72829029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr16:72829029G>A	ENST00000268489.5	-	9	8224	c.7552C>T	c.(7552-7554)Caa>Taa	p.Q2518*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q1604*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2518					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCGAGCTGTTGAGGAGTTGAT	0.587																																																	0													74.0	76.0	76.0					16																	72829029		2198	4300	6498	SO:0001587	stop_gained	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7552C>T	16.37:g.72829029G>A	ENSP00000268489:p.Gln2518*		D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Q2518*	ENST00000268489.5	37	c.7552	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	50	16.649246	0.99868	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.41	5.41	0.78517	.	0.000000	0.45867	D	0.000330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	19.1733	0.93590	0.0:0.0:1.0:0.0	.	.	.	.	X	2518;1604	.	ENSP00000268489:Q2518X	Q	-	1	0	ZFHX3	71386530	1.000000	0.71417	0.997000	0.53966	0.750000	0.42670	7.677000	0.84024	2.522000	0.85027	0.561000	0.74099	CAA	ZFHX3	-	NULL		0.587	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72829029	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZFHX4	79776	genome.wustl.edu	37	8	77766172	77766172	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr8:77766172G>A	ENST00000521891.2	+	10	7463	c.7015G>A	c.(7015-7017)Gaa>Aaa	p.E2339K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2313K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2294K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2294K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTACAAGGATGAAGATGATGA	0.443										HNSCC(33;0.089)																																							0													176.0	168.0	170.0					8																	77766172		2043	4205	6248	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7015G>A	8.37:g.77766172G>A	ENSP00000430497:p.Glu2339Lys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E2339K	ENST00000521891.2	37	c.7015	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196305	0.78902	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57907	0.37;0.46;0.4;0.42	4.44	4.44	0.53790	Zinc finger, C2H2 (1);	0.000000	0.45867	U	0.000336	T	0.67748	0.2926	L	0.52011	1.625	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.77557	0.978;0.99;0.99	T	0.70985	-0.4723	10	0.66056	D	0.02	.	17.6272	0.88096	0.0:0.0:1.0:0.0	.	2294;2294;2339	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2339;2323;2294;2294;2313	ENSP00000430497:E2339K;ENSP00000399605:E2294K;ENSP00000050961:E2294K;ENSP00000430848:E2313K	ENSP00000050961:E2294K	E	+	1	0	ZFHX4	77928727	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.601000	0.98297	2.475000	0.83589	0.650000	0.86243	GAA	ZFHX4	-	pfscan_Znf_C2H2		0.443	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77766172	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	1.000	A
ZMPSTE24	10269	genome.wustl.edu	37	1	40723960	40723960	+	Nonsense_Mutation	SNP	C	C	A	rs373684692		TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:40723960C>A	ENST00000372759.3	+	1	182	c.17C>A	c.(16-18)tCg>tAg	p.S6*	ZMPSTE24_ENST00000479131.1_3'UTR|RP1-39G22.7_ENST00000567508.1_RNA	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	6					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)	p.S6W(1)|p.S6L(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATGTGGGCATCGCTGGACGCT	0.632																																																	2	Substitution - Missense(2)	lung(2)											108.0	97.0	101.0					1																	40723960		2203	4300	6503	SO:0001587	stop_gained	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.17C>A	1.37:g.40723960C>A	ENSP00000361845:p.Ser6*		B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Nonsense_Mutation	SNP	pfam_Peptidase_M48	p.S6*	ENST00000372759.3	37	c.17	CCDS449.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.672206	0.97751	.	.	ENSG00000084073	ENST00000372759	.	.	.	5.44	3.5	0.40072	.	0.169960	0.48286	D	0.000181	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-0.0695	4.3055	0.10944	0.1757:0.6072:0.0:0.217	.	.	.	.	X	6	.	ENSP00000361845:S6X	S	+	2	0	ZMPSTE24	40496547	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.587000	0.23909	1.306000	0.44926	0.655000	0.94253	TCG	ZMPSTE24	-	NULL		0.632	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMPSTE24	HGNC	protein_coding	OTTHUMT00000015766.1	C			40723960	+1	no_errors	ENST00000372759	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZMYM3	9203	genome.wustl.edu	37	X	70461085	70461085	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:70461085G>A	ENST00000353904.2	-	24	4099	c.3912C>T	c.(3910-3912)ctC>ctT	p.L1304L	ZMYM3_ENST00000373998.1_Silent_p.L1292L|ZMYM3_ENST00000314425.5_Silent_p.L1304L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.L1306L|ZMYM3_ENST00000373984.3_Silent_p.L1214L	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1304					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACCATTTTGAGAGATAGAATT	0.517																																																	0													108.0	88.0	95.0					X																	70461085		2203	4300	6503	SO:0001819	synonymous_variant	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3912C>T	X.37:g.70461085G>A			D3DVV3|O15089|Q96E26	Silent	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.L1306	ENST00000353904.2	37	c.3918	CCDS14409.1	X																																																																																			ZMYM3	-	pfam_DUF3504		0.517	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	G	NM_201599		70461085	-1	no_errors	ENST00000373988	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF14	7561	genome.wustl.edu	37	19	19822274	19822274	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:19822274C>T	ENST00000344099.3	-	4	1954	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	606					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TGAGACCTTTCATGAATTCGA	0.408																																																	0													77.0	76.0	77.0					19																	19822274		2203	4300	6503	SO:0001583	missense	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1816G>A	19.37:g.19822274C>T	ENSP00000340514:p.Glu606Lys		B9EGA4|Q9ULZ5	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.E606K	ENST00000344099.3	37	c.1816	CCDS12409.1	19	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979443	0.53827	.	.	ENSG00000105708	ENST00000344099	T	0.07327	3.2	1.8	-1.32	0.09201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.02842	-0.48	0.21719	N	0.999578	D	0.55605	0.972	P	0.54100	0.742	T	0.43877	-0.9364	9	0.39692	T	0.17	.	8.6044	0.33764	0.0:0.3472:0.6528:0.0	.	606	P17017	ZNF14_HUMAN	K	606	ENSP00000340514:E606K	ENSP00000340514:E606K	E	-	1	0	ZNF14	19683274	0.000000	0.05858	0.004000	0.12327	0.992000	0.81027	-0.483000	0.06536	0.069000	0.16605	0.467000	0.42956	GAA	ZNF14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	C	NM_021030		19822274	-1	no_errors	ENST00000344099	ensembl	human	known	70_37	missense	SNP	0.927	T
ZNF185	7739	genome.wustl.edu	37	X	152106656	152106656	+	Missense_Mutation	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:152106656G>T	ENST00000370268.4	+	15	1194	c.1157G>T	c.(1156-1158)aGg>aTg	p.R386M	ZNF185_ENST00000324823.6_Missense_Mutation_p.R154M|ZNF185_ENST00000449285.2_Missense_Mutation_p.R387M|ZNF185_ENST00000539731.1_Missense_Mutation_p.R389M|ZNF185_ENST00000318529.8_Missense_Mutation_p.R165M|ZNF185_ENST00000318504.7_Missense_Mutation_p.R327M|ZNF185_ENST00000370270.2_Missense_Mutation_p.R418M|ZNF185_ENST00000535861.1_Missense_Mutation_p.R418M			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	386						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCTGATAGGAAGAGCAAC	0.572																																																	0													47.0	49.0	48.0					X																	152106656		2085	4179	6264	SO:0001583	missense	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1157G>T	X.37:g.152106656G>T	ENSP00000359291:p.Arg386Met		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.R418M	ENST00000370268.4	37	c.1253	CCDS48184.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.717|9.717	1.158689|1.158689	0.21454|0.21454	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270;ENST00000436731|ENST00000426821;ENST00000447088;ENST00000447792	T;T;T;T;T|.	0.51071|.	0.72;0.73;0.76;0.79;0.78|.	3.52|3.52	2.65|2.65	0.31530|0.31530	.|.	0.507607|.	0.16081|.	N|.	0.230493|.	T|.	0.33556|.	0.0867|.	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D;D;D;D;D;D;D;D|.	0.62365|.	0.986;0.986;0.965;0.986;0.986;0.986;0.983;0.991|.	P;P;P;P;P;P;P;P|.	0.59288|.	0.742;0.794;0.634;0.855;0.742;0.742;0.847;0.725|.	T|.	0.20638|.	-1.0269|.	10|.	0.56958|.	D|.	0.05|.	-0.3082|-0.3082	6.1062|6.1062	0.20075|0.20075	0.1444:0.0:0.8556:0.0|0.1444:0.0:0.8556:0.0	.|.	387;327;357;389;418;386;165;149|.	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;F8W8V7;O15231-2|.	.;.;.;.;.;ZN185_HUMAN;.;.|.	M|Y	418;389;387;327;221;154;252;386;165;149;91|171;203;120	ENSP00000440847:R418M;ENSP00000444367:R389M;ENSP00000395228:R387M;ENSP00000312782:R327M;ENSP00000359291:R386M|.	ENSP00000312782:R327M|.	R|X	+|+	2|3	0|2	ZNF185|ZNF185	151857312|151857312	0.439000|0.439000	0.25610|0.25610	0.235000|0.235000	0.24058|0.24058	0.105000|0.105000	0.19272|0.19272	0.359000|0.359000	0.20233|0.20233	0.856000|0.856000	0.35383|0.35383	0.600000|0.600000	0.82982|0.82982	AGG|TAG	ZNF185	-	NULL		0.572	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	G	NM_007150		152106656	+1	no_errors	ENST00000535861	ensembl	human	known	70_37	missense	SNP	0.215	T
ZNF350	59348	genome.wustl.edu	37	19	52468865	52468865	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:52468865G>A	ENST00000243644.4	-	5	1068	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	281					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TGTGTTTTCTGATGTATGTTG	0.418																																																	0													119.0	113.0	115.0					19																	52468865		2203	4300	6503	SO:0001587	stop_gained	59348			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.841C>T	19.37:g.52468865G>A	ENSP00000243644:p.Gln281*		Q96G73|Q9HAQ4	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.Q281*	ENST00000243644.4	37	c.841	CCDS12845.1	19	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550095	0.86127	.	.	ENSG00000256683	ENST00000243644	.	.	.	3.41	1.24	0.21308	.	0.470755	0.15951	N	0.236734	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	6.4488	0.21892	0.3293:0.0:0.6707:0.0	.	.	.	.	X	281	.	ENSP00000243644:Q281X	Q	-	1	0	ZNF350	57160677	0.006000	0.16342	0.009000	0.14445	0.780000	0.44128	1.121000	0.31283	0.174000	0.19809	0.591000	0.81541	CAG	ZNF350	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF350	HGNC	protein_coding	OTTHUMT00000462278.1	G	NM_021632		52468865	-1	no_errors	ENST00000243644	ensembl	human	known	70_37	nonsense	SNP	0.004	A
ZNF350	59348	genome.wustl.edu	37	19	52469366	52469366	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:52469366G>A	ENST00000243644.4	-	5	567	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	114					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TTGCTGCAATGAACAATATTT	0.368																																																	0													73.0	76.0	75.0					19																	52469366		2203	4300	6503	SO:0001583	missense	59348			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.340C>T	19.37:g.52469366G>A	ENSP00000243644:p.His114Tyr		Q96G73|Q9HAQ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H114Y	ENST00000243644.4	37	c.340	CCDS12845.1	19	.	.	.	.	.	.	.	.	.	.	G	6.790	0.514787	0.12944	.	.	ENSG00000256683	ENST00000243644	T	0.05786	3.39	2.57	1.48	0.22813	.	0.464792	0.16047	N	0.232154	T	0.03827	0.0108	N	0.14661	0.345	0.09310	N	1	P	0.50943	0.94	B	0.41666	0.363	T	0.45702	-0.9243	10	0.33141	T	0.24	.	8.6182	0.33845	0.0:0.0:0.7698:0.2302	.	114	Q9GZX5	ZN350_HUMAN	Y	114	ENSP00000243644:H114Y	ENSP00000243644:H114Y	H	-	1	0	ZNF350	57161178	0.039000	0.19947	0.010000	0.14722	0.022000	0.10575	0.736000	0.26130	0.608000	0.30000	0.585000	0.79938	CAT	ZNF350	-	NULL		0.368	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF350	HGNC	protein_coding	OTTHUMT00000462278.1	G	NM_021632		52469366	-1	no_errors	ENST00000243644	ensembl	human	known	70_37	missense	SNP	0.123	A
ZNF365	22891	genome.wustl.edu	37	10	64429980	64429980	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr10:64429980C>G	ENST00000395251.1	+	7	904	c.570C>G	c.(568-570)atC>atG	p.I190M	ZNF365_ENST00000410046.3_Missense_Mutation_p.I436M|ZNF365_ENST00000395249.1_Missense_Mutation_p.I42M	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	190										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AATTGACAATCATCGATTTGT	0.438																																																	0													260.0	258.0	259.0					10																	64429980		2203	4300	6503	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.570C>G	10.37:g.64429980C>G	ENSP00000378672:p.Ile190Met			Missense_Mutation	SNP	NULL	p.I436M	ENST00000395251.1	37	c.1308	CCDS7265.1	10	.	.	.	.	.	.	.	.	.	.	C	5.796	0.331211	0.10956	.	.	ENSG00000138311	ENST00000410046;ENST00000395251;ENST00000395249	T	0.55052	0.54	2.97	2.04	0.26737	.	.	.	.	.	T	0.42131	0.1189	N	0.08118	0	0.09310	N	1	D;P	0.58268	0.982;0.899	P;B	0.54889	0.763;0.387	T	0.22836	-1.0205	9	0.87932	D	0	.	7.3155	0.26498	0.2615:0.7385:0.0:0.0	.	190;436	Q70YC4;Q70YC5-3	TALAN_HUMAN;.	M	436;190;42	ENSP00000378672:I190M	ENSP00000378670:I42M	I	+	3	3	ZNF365	64099986	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	-0.064000	0.11636	0.819000	0.34492	0.460000	0.39030	ATC	ZNF365	-	NULL		0.438	ZNF365-006	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000277036.1	C	NM_014951		64429980	+1	no_errors	ENST00000410046	ensembl	human	known	70_37	missense	SNP	0.007	G
ZNF439	90594	genome.wustl.edu	37	19	11978581	11978581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:11978581G>T	ENST00000304030.2	+	3	897	c.697G>T	c.(697-699)Gaa>Taa	p.E233*	ZNF439_ENST00000455282.1_Nonsense_Mutation_p.E97*|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TCTTATCCATGAAAGAACTCA	0.373																																																	0													99.0	98.0	98.0					19																	11978581		2203	4300	6503	SO:0001587	stop_gained	90594			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.697G>T	19.37:g.11978581G>T	ENSP00000305077:p.Glu233*		Q8IYZ7|Q96SU1	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.E233*	ENST00000304030.2	37	c.697	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	g	22.7	4.320357	0.81469	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	.	.	.	0.575	0.575	0.17374	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	2.9263	0.05785	0.3544:0.0:0.6456:0.0	.	.	.	.	X	97;233	.	ENSP00000305077:E233X	E	+	1	0	ZNF439	11839581	0.000000	0.05858	0.060000	0.19600	0.510000	0.34073	-0.237000	0.08990	0.577000	0.29470	0.194000	0.17425	GAA	ZNF439	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	G			11978581	+1	no_errors	ENST00000304030	ensembl	human	known	70_37	nonsense	SNP	0.537	T
ZNF483	158399	genome.wustl.edu	37	9	114296561	114296561	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr9:114296561G>A	ENST00000309235.5	+	5	807	c.649G>A	c.(649-651)Gag>Aag	p.E217K	ZNF483_ENST00000355824.3_Missense_Mutation_p.E217K|ZNF483_ENST00000358151.4_Missense_Mutation_p.E217K	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	217	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TTCAAAATTAGAGTTGATTTC	0.398																																																	0													97.0	103.0	101.0					9																	114296561		2203	4300	6503	SO:0001583	missense	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.649G>A	9.37:g.114296561G>A	ENSP00000311679:p.Glu217Lys		Q5VZN2|Q8NAE1	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.E217K	ENST00000309235.5	37	c.649	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339978	0.24339	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000309235	T;T;T	0.00824	5.65;5.65;5.65	4.59	4.59	0.56863	Krueppel-associated box (3);	0.495835	0.17083	N	0.187705	T	0.01320	0.0043	L	0.49455	1.56	0.09310	N	1	B;B;B	0.30482	0.281;0.118;0.18	B;B;B	0.24541	0.037;0.054;0.027	T	0.47446	-0.9117	10	0.39692	T	0.17	-11.6666	13.1327	0.59391	0.0:0.0:1.0:0.0	.	217;217;217	Q6P088;Q8NAE1;Q8TF39	.;.;ZN483_HUMAN	K	217	ENSP00000350871:E217K;ENSP00000438048:E217K;ENSP00000311679:E217K	ENSP00000311679:E217K	E	+	1	0	ZNF483	113336382	0.977000	0.34250	0.202000	0.23494	0.053000	0.15095	4.709000	0.61867	2.563000	0.86464	0.650000	0.86243	GAG	ZNF483	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.398	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	G	XM_088567		114296561	+1	no_errors	ENST00000309235	ensembl	human	known	70_37	missense	SNP	0.097	A
ZNF493	284443	genome.wustl.edu	37	19	21606171	21606171	+	Missense_Mutation	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:21606171C>T	ENST00000355504.4	+	2	592	c.326C>T	c.(325-327)tCc>tTc	p.S109F	ZNF493_ENST00000392288.2_Missense_Mutation_p.S237F|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	109					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GGAGAGAAATCCTACAAATAT	0.373																																																	0													38.0	41.0	40.0					19																	21606171		2199	4293	6492	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.326C>T	19.37:g.21606171C>T	ENSP00000347691:p.Ser109Phe		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S109F	ENST00000355504.4	37	c.326	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	9.499	1.102734	0.20632	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.36878	1.23;1.23	0.985	0.985	0.19779	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38825	0.1055	L	0.31526	0.94	0.80722	D	1	B;D	0.65815	0.019;0.995	B;P	0.61201	0.006;0.885	T	0.23547	-1.0185	9	0.87932	D	0	.	7.3463	0.26666	0.0:1.0:0.0:0.0	.	109;237	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	F	237;109	ENSP00000376110:S237F;ENSP00000347691:S109F	ENSP00000347691:S109F	S	+	2	0	ZNF493	21398011	0.000000	0.05858	0.063000	0.19743	0.062000	0.15995	0.825000	0.27393	0.399000	0.25367	0.404000	0.27445	TCC	ZNF493	-	pfscan_Znf_C2H2		0.373	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	C	NM_175910		21606171	+1	no_errors	ENST00000355504	ensembl	human	known	70_37	missense	SNP	0.825	T
ZNF521	25925	genome.wustl.edu	37	18	22806495	22806495	+	Missense_Mutation	SNP	G	G	C			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr18:22806495G>C	ENST00000361524.3	-	4	1535	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	ZNF521_ENST00000538137.2_Missense_Mutation_p.Q463E|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.Q243E	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	463					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCTGGGTCCTGAGCTTCATGC	0.458			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													94.0	92.0	93.0					18																	22806495		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1387C>G	18.37:g.22806495G>C	ENSP00000354794:p.Gln463Glu		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q463E	ENST00000361524.3	37	c.1387	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	G	9.721	1.159613	0.21454	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.07216	3.21;3.25	6.06	6.06	0.98353	Zinc finger, C2H2 (1);	0.168518	0.52532	D	0.000063	T	0.04497	0.0123	N	0.03608	-0.345	0.32777	N	0.503065	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	10	0.02654	T	1	-25.5103	20.6243	0.99512	0.0:0.0:1.0:0.0	.	463	Q96K83	ZN521_HUMAN	E	463;497;463	ENSP00000354794:Q463E;ENSP00000382352:Q463E	ENSP00000354794:Q463E	Q	-	1	0	ZNF521	21060493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.698000	0.68302	2.879000	0.98667	0.650000	0.86243	CAG	ZNF521	-	pfscan_Znf_C2H2		0.458	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	G	NM_015461		22806495	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF578	147660	genome.wustl.edu	37	19	52954654	52954654	+	5'Flank	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:52954654C>T	ENST00000421239.2	+	0	0				ZNF534_ENST00000301085.4_Silent_p.L162L|ZNF534_ENST00000432303.2_Silent_p.L119L	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACGGGACTCTCAGGGCCGGGC	0.711																																																	0													2.0	2.0	2.0					19																	52954654		672	1513	2185	SO:0001631	upstream_gene_variant	147658			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468		19.37:g.52954654C>T	Exception_encountered		B4DR51|I3L1Y6	Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.L162	ENST00000421239.2	37	c.486	CCDS54310.1	19																																																																																			ZNF534	-	NULL		0.711	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000344298.3	C	NM_152472		52954654	+1	no_errors	ENST00000301085	ensembl	human	putative	70_37	silent	SNP	0.003	T
ZNF525	170958	genome.wustl.edu	37	19	53884991	53884991	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:53884991G>A	ENST00000355326.3	+	1	313	c.313G>A	c.(313-315)Gat>Aat	p.D105N	ZNF525_ENST00000474037.1_Missense_Mutation_p.D387N|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000467003.1_Missense_Mutation_p.D351N|ZNF525_ENST00000475179.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						CAAGTGTAATGATTGTGGCAA	0.383																																																	0																																										SO:0001583	missense	170958			AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000355326.3:c.313G>A	19.37:g.53884991G>A	ENSP00000408929:p.Asp105Asn		Q8TF23	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D105N	ENST00000355326.3	37	c.313		19	.	.	.	.	.	.	.	.	.	.	G	12.57	1.979038	0.34942	.	.	ENSG00000203326	ENST00000474037;ENST00000467003;ENST00000355326	T;T;T	0.07327	3.2;3.2;3.2	1.63	0.22	0.15279	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08179	0.0204	.	.	.	0.09310	N	1	P	0.39920	0.695	B	0.39339	0.297	T	0.32052	-0.9921	8	0.72032	D	0.01	.	8.8185	0.35011	0.0:0.2337:0.7663:0.0	.	105	Q8N782	ZN525_HUMAN	N	387;351;105	ENSP00000417696:D387N;ENSP00000419136:D351N;ENSP00000408929:D105N	ENSP00000408929:D105N	D	+	1	0	ZNF525	58576803	0.000000	0.05858	0.025000	0.17156	0.020000	0.10135	-0.399000	0.07250	0.897000	0.36392	0.298000	0.19748	GAT	ZNF525	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF525-201	KNOWN	basic	protein_coding	ZNF525	HGNC	protein_coding		G	NR_003699		53884991	+1	no_errors	ENST00000355326	ensembl	human	known	70_37	missense	SNP	0.001	A
ZNF71	58491	genome.wustl.edu	37	19	57133912	57133912	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:57133912C>T	ENST00000328070.6	+	3	1491	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCAAGGCCTTCAGCCAGAGCG	0.637																																																	0													84.0	71.0	75.0					19																	57133912		2203	4300	6503	SO:0001819	synonymous_variant	58491			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1257C>T	19.37:g.57133912C>T			Q15919|Q9UC09|Q9UQD3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F419	ENST00000328070.6	37	c.1257	CCDS12947.1	19																																																																																			ZNF71	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	C	NM_021216		57133912	+1	no_errors	ENST00000328070	ensembl	human	known	70_37	silent	SNP	0.971	T
ZNF75D	7626	genome.wustl.edu	37	X	134427773	134427773	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:134427773C>T	ENST00000370766.3	-	3	3003	c.294G>A	c.(292-294)ctG>ctA	p.L98L	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Silent_p.L98L	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	98	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGAATGCTCAGGAACTGCT	0.507																																																	0													85.0	76.0	79.0					X																	134427773		2203	4300	6503	SO:0001819	synonymous_variant	7626			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.294G>A	X.37:g.134427773C>T			A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L98	ENST00000370766.3	37	c.294	CCDS14648.1	X																																																																																			ZNF75D	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.507	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF75D	HGNC	protein_coding	OTTHUMT00000058415.1	C	NM_007131		134427773	-1	no_errors	ENST00000370766	ensembl	human	known	70_37	silent	SNP	0.790	T
ZNF781	163115	genome.wustl.edu	37	19	38160922	38160922	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:38160922C>G	ENST00000590008.1	-	5	980	c.128G>C	c.(127-129)aGa>aCa	p.R43T	ZNF781_ENST00000358582.4_Missense_Mutation_p.R43T|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GGCACGCTTTCTAAAGGGCTT	0.388																																																	0													179.0	174.0	176.0					19																	38160922		2203	4300	6503	SO:0001583	missense	163115			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.128G>C	19.37:g.38160922C>G	ENSP00000466370:p.Arg43Thr		Q2VPJ8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R43T	ENST00000590008.1	37	c.128	CCDS12507.1	19	.	.	.	.	.	.	.	.	.	.	C	3.399	-0.122650	0.06795	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.07800	3.16	2.58	-1.28	0.09318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	N	0.11154	0.105	0.09310	N	1	B	0.22003	0.063	B	0.36464	0.225	T	0.49588	-0.8924	9	0.34782	T	0.22	.	6.3317	0.21274	0.0:0.4045:0.0:0.5955	.	43	Q8N8C0	ZN781_HUMAN	T	43	ENSP00000351391:R43T	ENSP00000351391:R43T	R	-	2	0	ZNF781	42852762	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.420000	0.07062	-0.363000	0.08101	-0.495000	0.04643	AGA	ZNF781	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF781	HGNC	protein_coding	OTTHUMT00000459495.2	C	NM_152605		38160922	-1	no_errors	ENST00000358582	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF761	388561	genome.wustl.edu	37	19	53958186	53958186	+	RNA	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:53958186C>T	ENST00000454407.1	+	0	878							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CAGCTTGGATCAAGCTTTCAT	0.383																																																	0													112.0	111.0	111.0					19																	53958186		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958186C>T			Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.383	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		C	NM_001008401		53958186	+1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.047	T
ZNF81	347344	genome.wustl.edu	37	X	47774737	47774737	+	Missense_Mutation	SNP	C	C	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:47774737C>A	ENST00000376954.1	+	6	1060	c.692C>A	c.(691-693)tCt>tAt	p.S231Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.S231Y			P51508	ZNF81_HUMAN	zinc finger protein 81	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACCCAGAACTCTTCTTATAGT	0.358													C|||	1	0.000264901	0.0	0.0014	3775	,	,		14118	0.0		0.0	False		,,,				2504	0.0																0													60.0	59.0	59.0					X																	47774737		1890	4100	5990	SO:0001583	missense	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.692C>A	X.37:g.47774737C>A	ENSP00000366153:p.Ser231Tyr		Q6RX22|Q96QH6	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.S231Y	ENST00000376954.1	37	c.692	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	C	0.321	-0.962000	0.02249	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.18502	2.21;2.21	3.45	1.58	0.23477	.	1.274540	0.05642	N	0.583622	T	0.19485	0.0468	M	0.64170	1.965	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.32079	-0.9920	10	0.52906	T	0.07	.	5.5234	0.16945	0.4027:0.4029:0.1944:0.0	.	231	P51508	ZNF81_HUMAN	Y	231	ENSP00000366153:S231Y;ENSP00000341151:S231Y	ENSP00000341151:S231Y	S	+	2	0	ZNF81	47659681	0.001000	0.12720	0.009000	0.14445	0.017000	0.09413	1.171000	0.31896	0.293000	0.22520	0.468000	0.43344	TCT	ZNF81	-	NULL		0.358	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	C	NM_007137		47774737	+1	no_errors	ENST00000338637	ensembl	human	known	70_37	missense	SNP	0.041	A
ZNF81	347344	genome.wustl.edu	37	X	47775374	47775374	+	Silent	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chrX:47775374C>T	ENST00000376954.1	+	6	1697	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	ZNF81_ENST00000338637.7_Silent_p.I443I			P51508	ZNF81_HUMAN	zinc finger protein 81	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGTCCTATATCTGTACTCAAT	0.448																																																	0													49.0	47.0	48.0					X																	47775374		2200	4299	6499	SO:0001819	synonymous_variant	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1329C>T	X.37:g.47775374C>T			Q6RX22|Q96QH6	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.I443	ENST00000376954.1	37	c.1329	CCDS43933.1	X																																																																																			ZNF81	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	C	NM_007137		47775374	+1	no_errors	ENST00000338637	ensembl	human	known	70_37	silent	SNP	0.168	T
ZNF321P	399669	genome.wustl.edu	37	19	53431737	53431737	+	3'UTR	SNP	C	C	T			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:53431737C>T	ENST00000391777.3	-	0	1242				ZNF816_ENST00000549216.1_3'UTR|ZNF816-ZNF321P_ENST00000313956.4_RNA			Q8N8H1	ZN321_HUMAN	zinc finger protein 321, pseudogene											endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TCACATTCTTCACATTTGTAA	0.388																																																	0																																										SO:0001624	3_prime_UTR_variant	100529240			AK096828		19q13.4	2013-01-08	2011-04-19	2011-04-19	ENSG00000221874	ENSG00000221874			13827	pseudogene	pseudogene			"""zinc finger protein 321"""	ZNF321			Standard	NR_037805		Approved	MGC35402		Q8N8H1	OTTHUMG00000167760	ENST00000391777.3:c.*419G>A	19.37:g.53431737C>T			B7ZB38|Q68DZ0|Q86SS5	RNA	SNP	-	NULL	ENST00000391777.3	37	NULL	CCDS56101.1	19																																																																																			ZNF816-ZNF321P	-	-		0.388	ZNF321P-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF816-ZNF321P	HGNC	protein_coding	OTTHUMT00000396130.1	C	NR_037805		53431737	-1	no_errors	ENST00000313956	ensembl	human	known	70_37	rna	SNP	0.005	T
ZNF865	100507290	genome.wustl.edu	37	19	56126747	56126747	+	Missense_Mutation	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr19:56126747G>A	ENST00000568956.1	+	2	2117	c.1763G>A	c.(1762-1764)cGc>cAc	p.R588H		NM_001195605.1	NP_001182534.1	P0CJ78	ZN865_HUMAN	zinc finger protein 865	588					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAGCGCTTCCGCGAATCCTTC	0.677																																																	0																																										SO:0001583	missense	100507290				CCDS58681.1	19q13.42	2013-01-08			ENSG00000261221	ENSG00000261221		"""Zinc fingers, C2H2-type"""	38705	protein-coding gene	gene with protein product							Standard	NM_001195605		Approved		uc021vca.1	P0CJ78	OTTHUMG00000177108	ENST00000568956.1:c.1763G>A	19.37:g.56126747G>A	ENSP00000457715:p.Arg588His			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R588H	ENST00000568956.1	37	c.1763	CCDS58681.1	19																																																																																			ZNF865	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.677	ZNF865-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF865	HGNC	protein_coding	OTTHUMT00000435399.1	G	NM_001195605		56126747	+1	no_errors	ENST00000568956	ensembl	human	novel	70_37	missense	SNP	0.770	A
ZNF890P	645700	genome.wustl.edu	37	7	5167329	5167329	+	RNA	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr7:5167329C>G	ENST00000422060.2	-	0	522					NR_034163.1				zinc finger protein 890, pseudogene																		TGCTGCCACTCTTTCCGGGTG	0.582																																																	0																																												645700					7p22.1	2011-05-24			ENSG00000159904	ENSG00000159904			38691	pseudogene	pseudogene							Standard	NR_034163		Approved		uc003snu.1		OTTHUMG00000166790		7.37:g.5167329C>G				RNA	SNP	-	NULL	ENST00000422060.2	37	NULL		7																																																																																			ZNF890P	-	-		0.582	ZNF890P-002	KNOWN	basic	processed_transcript	ZNF890P	HGNC	pseudogene	OTTHUMT00000391474.1	C	NR_034163		5167329	-1	no_errors	ENST00000422060	ensembl	human	known	70_37	rna	SNP	0.807	G
ZSWIM3	140831	genome.wustl.edu	37	20	44506550	44506550	+	Silent	SNP	G	G	A			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr20:44506550G>A	ENST00000255152.2	+	2	1562	c.1353G>A	c.(1351-1353)ctG>ctA	p.L451L	ZSWIM3_ENST00000454862.2_Silent_p.L445L	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	451							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GCATGCCACTGAAGTCCAAGA	0.507																																																	0													38.0	40.0	39.0					20																	44506550		2203	4300	6503	SO:0001819	synonymous_variant	140831			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1353G>A	20.37:g.44506550G>A			Q9BR13	Silent	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.L451	ENST00000255152.2	37	c.1353	CCDS13381.1	20																																																																																			ZSWIM3	-	NULL		0.507	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1	G	NM_080752		44506550	+1	no_errors	ENST00000255152	ensembl	human	known	70_37	silent	SNP	0.000	A
ZYG11B	79699	genome.wustl.edu	37	1	53237052	53237052	+	Missense_Mutation	SNP	C	C	G			TCGA-UC-A7PF-01A-11D-A351-09	TCGA-UC-A7PF-11A-31D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	34765b04-74bb-4a00-b9f6-52bb26ee8ad7	a1610997-c7f9-4d07-af1c-a7fb6e6bcc5b	g.chr1:53237052C>G	ENST00000294353.6	+	3	702	c.557C>G	c.(556-558)cCa>cGa	p.P186R	ZYG11B_ENST00000545132.1_Missense_Mutation_p.P186R|ZYG11B_ENST00000443756.2_Missense_Mutation_p.P186R	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	186										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GCCTCATTGCCAAGATTAGAG	0.478																																																	0													73.0	76.0	75.0					1																	53237052		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.557C>G	1.37:g.53237052C>G	ENSP00000294353:p.Pro186Arg		Q8N2X3|Q9H8L8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P186R	ENST00000294353.6	37	c.557	CCDS30717.1	1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512220	0.64522	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.19669	2.13;2.13;2.13	5.04	5.04	0.67666	.	0.049336	0.85682	D	0.000000	T	0.42040	0.1185	L	0.51914	1.62	0.58432	D	0.999995	D;D	0.89917	0.996;1.0	D;D	0.79784	0.952;0.993	T	0.06588	-1.0818	10	0.39692	T	0.17	.	18.653	0.91437	0.0:1.0:0.0:0.0	.	186;186	B4DK95;Q9C0D3	.;ZY11B_HUMAN	R	186	ENSP00000400522:P186R;ENSP00000441315:P186R;ENSP00000294353:P186R	ENSP00000294353:P186R	P	+	2	0	ZYG11B	53009640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.201000	0.77847	2.653000	0.90120	0.650000	0.86243	CCA	ZYG11B	-	NULL		0.478	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11B	HGNC	protein_coding	OTTHUMT00000024749.1	C	NM_024646		53237052	+1	no_errors	ENST00000294353	ensembl	human	known	70_37	missense	SNP	1.000	G
