#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADD3	120	genome.wustl.edu	37	10	111860429	111860429	+	Silent	SNP	C	C	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr10:111860429C>T	ENST00000356080.4	+	2	385	c.18C>T	c.(16-18)agC>agT	p.S6S	ADD3_ENST00000360162.3_Silent_p.S6S|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000277900.8_Silent_p.S6S	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	6						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CAGATGCCAGCCAAGGCGTGA	0.398																																						dbGAP											0													73.0	61.0	65.0					10																	111860429		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.18C>T	10.37:g.111860429C>T			D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.S6	ENST00000356080.4	37	c.18	CCDS7561.1	10																																																																																			ADD3	-	NULL	ENSG00000148700		0.398	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1	38	0.00	0	C	NM_019903		111860429	111860429	+1	no_errors	ENST00000356080	ensembl	human	known	69_37n	silent	47	61.48	75	SNP	0.987	T
ALOXE3	59344	genome.wustl.edu	37	17	7999968	7999968	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr17:7999968T>A	ENST00000448843.2	-	16	2453	c.2113A>T	c.(2113-2115)Att>Ttt	p.I705F	ALOXE3_ENST00000380149.1_Missense_Mutation_p.I861F|ALOXE3_ENST00000318227.3_Missense_Mutation_p.I837F	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	705	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTGTTCTCAATGAGGGGAGGG	0.587																																						dbGAP											0													184.0	168.0	174.0					17																	7999968		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.2113A>T	17.37:g.7999968T>A	ENSP00000400581:p.Ile705Phe		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C	p.I837F	ENST00000448843.2	37	c.2509	CCDS11130.1	17	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665374	0.67700	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.92249	-3.0;-3.0;-3.0	5.13	5.13	0.70059	Lipoxygenase, C-terminal (2);	0.148999	0.53938	D	0.000048	D	0.96676	0.8915	H	0.94345	3.525	0.58432	D	0.999994	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.83275	0.996;0.957;0.957	D	0.96918	0.9672	10	0.87932	D	0	-19.6062	9.324	0.37982	0.0:0.0838:0.0:0.9162	.	837;705;705	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	F	861;837;705	ENSP00000369494:I861F;ENSP00000314879:I837F;ENSP00000400581:I705F	ENSP00000314879:I837F	I	-	1	0	ALOXE3	7940693	0.968000	0.33430	0.991000	0.47740	0.801000	0.45260	1.745000	0.38278	2.280000	0.76307	0.523000	0.50628	ATT	ALOXE3	-	superfamily_LipOase_C	ENSG00000179148		0.587	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	164	0.00	0	T			7999968	7999968	-1	no_errors	ENST00000318227	ensembl	human	known	69_37n	missense	127	28.65	51	SNP	0.920	A
ANK3	288	genome.wustl.edu	37	10	61833656	61833656	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr10:61833656C>T	ENST00000280772.2	-	37	7174	c.6983G>A	c.(6982-6984)cGt>cAt	p.R2328H	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2328					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTATTATACGCTCCAGTTT	0.423																																						dbGAP											0													128.0	119.0	122.0					10																	61833656		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6983G>A	10.37:g.61833656C>T	ENSP00000280772:p.Arg2328His		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R2328H	ENST00000280772.2	37	c.6983	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253881	0.80135	.	.	ENSG00000151150	ENST00000280772	T	0.68181	-0.31	5.94	5.94	0.96194	.	0.000000	0.42964	D	0.000632	T	0.81555	0.4847	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81444	-0.0930	10	0.72032	D	0.01	.	20.3594	0.98849	0.0:1.0:0.0:0.0	.	2328	Q12955	ANK3_HUMAN	H	2328	ENSP00000280772:R2328H	ENSP00000280772:R2328H	R	-	2	0	ANK3	61503662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.776000	0.68924	2.816000	0.96949	0.563000	0.77884	CGT	ANK3	-	NULL	ENSG00000151150		0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	73	0.00	0	C	NM_020987		61833656	61833656	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	47	30.88	21	SNP	1.000	T
ARHGAP35	2909	genome.wustl.edu	37	19	47422652	47422652	+	Silent	SNP	C	C	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr19:47422652C>T	ENST00000404338.3	+	1	720	c.720C>T	c.(718-720)ttC>ttT	p.F240F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	240					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)										ACTTGGCTTTCAGCACCTTAG	0.433																																						dbGAP											0													109.0	107.0	108.0					19																	47422652		1915	4136	6051	-	-	-	SO:0001819	synonymous_variant	0			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.720C>T	19.37:g.47422652C>T			A7E2A4|Q14452|Q9C0E1	Silent	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.F240	ENST00000404338.3	37	c.720	CCDS46127.1	19																																																																																			ARHGAP35	-	pfam_Small_GTPase	ENSG00000160007		0.433	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	47	0.00	0	C	NM_004491		47422652	47422652	+1	no_errors	ENST00000404338	ensembl	human	known	69_37n	silent	29	42.00	21	SNP	1.000	T
CCDC144A	9720	genome.wustl.edu	37	17	16612273	16612273	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr17:16612273G>C	ENST00000360524.8	+	5	978	c.902G>C	c.(901-903)aGg>aCg	p.R301T	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.R301T|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000399273.1_Missense_Mutation_p.R301T|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000340621.5_Missense_Mutation_p.R300T|CCDC144A_ENST00000443444.2_Missense_Mutation_p.R301T	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	301																	TTAAAGCAGAGGTTTGGTGAA	0.368																																						dbGAP											0													5.0	6.0	6.0					17																	16612273		1617	3619	5236	-	-	-	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.902G>C	17.37:g.16612273G>C	ENSP00000353717:p.Arg301Thr		O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.R301T	ENST00000360524.8	37	c.902	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	13.16	2.153676	0.38021	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	1.26	-2.52	0.06346	.	.	.	.	.	T	0.09379	0.0231	N	0.22421	0.69	0.58432	D	0.999999	B	0.17667	0.023	B	0.11329	0.006	T	0.30765	-0.9967	8	.	.	.	.	2.2072	0.03938	0.5367:0.0:0.2142:0.2491	.	301	A2RUR9	C144A_HUMAN	T	300;301;301;301;301;301	ENSP00000344740:R300T;ENSP00000382215:R301T;ENSP00000439262:R301T;ENSP00000440655:R301T;ENSP00000353717:R301T;ENSP00000353685:R301T	.	R	+	2	0	CCDC144A	16552998	0.998000	0.40836	0.961000	0.40146	0.126000	0.20510	0.788000	0.26872	-0.236000	0.09753	0.175000	0.17021	AGG	CCDC144A	-	NULL	ENSG00000170160		0.368	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	106	0.00	0	G			16612273	16612273	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	missense	82	33.87	42	SNP	0.975	C
CHD6	84181	genome.wustl.edu	37	20	40143457	40143457	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr20:40143457G>C	ENST00000373233.3	-	4	866	c.689C>G	c.(688-690)tCt>tGt	p.S230C	CHD6_ENST00000309279.7_Missense_Mutation_p.S230C|CHD6_ENST00000373222.3_Missense_Mutation_p.S265C	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	230	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCTGTCTGTAGACTCAGTGGA	0.532																																						dbGAP											0													116.0	108.0	110.0					20																	40143457		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.689C>G	20.37:g.40143457G>C	ENSP00000362330:p.Ser230Cys		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S230C	ENST00000373233.3	37	c.689	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598099	0.87055	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222	T;T;T	0.55413	0.52;0.52;0.52	5.64	5.64	0.86602	.	0.000000	0.56097	D	0.000036	T	0.64853	0.2636	L	0.29908	0.895	0.53688	D	0.999979	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.972	T	0.67542	-0.5644	10	0.87932	D	0	-14.4266	19.6979	0.96034	0.0:0.0:1.0:0.0	.	265;230	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	C	230;230;265	ENSP00000362330:S230C;ENSP00000308684:S230C;ENSP00000362319:S265C	ENSP00000308684:S230C	S	-	2	0	CHD6	39576871	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.206000	0.65192	2.660000	0.90430	0.561000	0.74099	TCT	CHD6	-	NULL	ENSG00000124177		0.532	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	87	0.00	0	G			40143457	40143457	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	missense	99	22.66	29	SNP	1.000	C
COL18A1	80781	genome.wustl.edu	37	21	46875461	46875461	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr21:46875461G>A	ENST00000359759.4	+	1	38	c.17G>A	c.(16-18)tGt>tAt	p.C6Y	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.C6Y			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	6					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)		CCCTACCCCTGTGGCTGCCAC	0.677																																						dbGAP											0													28.0	36.0	33.0					21																	46875461		2073	4202	6275	-	-	-	SO:0001583	missense	0				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.17G>A	21.37:g.46875461G>A	ENSP00000352798:p.Cys6Tyr		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_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,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.C6Y	ENST00000359759.4	37	c.17		21	.	.	.	.	.	.	.	.	.	.	G	6.667	0.491599	0.12702	.	.	ENSG00000182871	ENST00000355480;ENST00000359759;ENST00000539645	D;D	0.91464	-2.85;-2.58	2.47	2.47	0.30058	.	.	.	.	.	T	0.80292	0.4596	N	0.08118	0	0.21499	N	0.999665	B;B	0.26120	0.142;0.035	B;B	0.22753	0.018;0.041	T	0.73500	-0.3963	9	0.87932	D	0	.	10.5613	0.45146	0.0:0.0:1.0:0.0	.	6;6	P39060;P39060-1	COIA1_HUMAN;.	Y	6	ENSP00000347665:C6Y;ENSP00000352798:C6Y	ENSP00000347665:C6Y	C	+	2	0	COL18A1	45699889	0.693000	0.27728	0.621000	0.29145	0.022000	0.10575	2.736000	0.47385	1.694000	0.51137	0.491000	0.48974	TGT	COL18A1	-	NULL	ENSG00000182871		0.677	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	34	0.00	0	G			46875461	46875461	+1	no_errors	ENST00000359759	ensembl	human	known	69_37n	missense	24	16.67	5	SNP	0.788	A
COL6A5	256076	genome.wustl.edu	37	3	130120614	130120614	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr3:130120614T>G	ENST00000432398.2	+	12	4637	c.4143T>G	c.(4141-4143)atT>atG	p.I1381M	COL6A5_ENST00000265379.6_Missense_Mutation_p.I1381M	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1381	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGGGAAATATTGCAGAGAGGA	0.438																																						dbGAP											0													85.0	75.0	78.0					3																	130120614		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4143T>G	3.37:g.130120614T>G	ENSP00000390895:p.Ile1381Met		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.I1381M	ENST00000432398.2	37	c.4143		3	.	.	.	.	.	.	.	.	.	.	T	10.53	1.376560	0.24857	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.40225	1.04;1.04	5.73	3.39	0.38822	.	.	.	.	.	T	0.57725	0.2073	M	0.65498	2.005	0.32250	N	0.571515	D	0.76494	0.999	D	0.76071	0.987	T	0.62459	-0.6850	9	0.46703	T	0.11	.	7.9689	0.30115	0.0:0.171:0.0:0.829	.	1381	A8TX70-2	.	M	1381	ENSP00000390895:I1381M;ENSP00000265379:I1381M	ENSP00000265379:I1381M	I	+	3	3	COL6A5	131603304	0.993000	0.37304	0.999000	0.59377	0.338000	0.28826	0.460000	0.21924	0.470000	0.27294	-0.256000	0.11100	ATT	COL6A5	-	NULL	ENSG00000172752		0.438	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		76	0.00	0	T	NM_153264		130120614	130120614	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	68	26.88	25	SNP	1.000	G
DCAF10	79269	genome.wustl.edu	37	9	37861271	37861271	+	Silent	SNP	C	C	G	rs199538284	byFrequency	TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr9:37861271C>G	ENST00000377724.3	+	7	1811	c.1446C>G	c.(1444-1446)ccC>ccG	p.P482P	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Silent_p.P445P|DCAF10_ENST00000483167.1_3'UTR	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	482					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						GCTTCAGCCCCGATGGACGAA	0.483																																						dbGAP											0													125.0	112.0	116.0					9																	37861271		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1446C>G	9.37:g.37861271C>G			A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P482	ENST00000377724.3	37	c.1446	CCDS6613.2	9																																																																																			DCAF10	-	superfamily_WD40_repeat_dom	ENSG00000122741		0.483	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF10	HGNC	protein_coding	OTTHUMT00000052485.2	92	0.00	0	C	NM_024345		37861271	37861271	+1	no_errors	ENST00000377724	ensembl	human	known	69_37n	silent	84	26.32	30	SNP	0.968	G
UPK3B	80761	genome.wustl.edu	37	7	76631515	76631515	+	Intron	SNP	G	G	A	rs61737189	byFrequency	TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr7:76631515G>A	ENST00000419923.2	+	6	1408				UPK3B_ENST00000443097.2_Intron|DTX2P1-UPK3BP1-PMS2P11_ENST00000584900.1_RNA			Q9BT76	UPK3B_HUMAN	uroplakin 3B						negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A7A(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				TGTCCGCAGCGTCTGGATACA	0.617																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)																																								-	-	-	SO:0001627	intron_variant	0			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000419923.2:c.961-16626G>A	7.37:g.76631515G>A			A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	RNA	SNP	-	NULL	ENST00000419923.2	37	NULL	CCDS5588.1	7																																																																																			DTX2P1-UPK3BP1-PMS2P11	-	-	ENSG00000265479		0.617	UPK3B-201	KNOWN	basic|CCDS	protein_coding	DTX2P1-UPK3BP1-PMS2P11	HGNC	protein_coding		32	0.00	0	G	NM_030570		76631515	76631515	+1	no_errors	ENST00000579700	ensembl	human	known	69_37n	rna	46	16.36	9	SNP	0.111	A
DYX1C1	161582	genome.wustl.edu	37	15	55727242	55727242	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr15:55727242G>A	ENST00000321149.3	-	8	1275	c.908C>T	c.(907-909)aCg>aTg	p.T303M	DYX1C1_ENST00000448430.2_Missense_Mutation_p.T303M|DYX1C1_ENST00000457155.2_Missense_Mutation_p.T303M|DYX1C1_ENST00000348518.3_Missense_Mutation_p.T303M|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Missense_Mutation_p.T303M	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	303					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		ATAGTTTTCCGTTGCAAACAA	0.318																																						dbGAP											0													62.0	64.0	63.0					15																	55727242		2191	4290	6481	-	-	-	SO:0001583	missense	0				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.908C>T	15.37:g.55727242G>A	ENSP00000323275:p.Thr303Met		Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	pfam_TPR-1,pfam_CS_domain,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS-like_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T303M	ENST00000321149.3	37	c.908	CCDS10154.1	15	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176318	0.38413	.	.	ENSG00000256061	ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.23	3.33	0.38152	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.349964	0.29473	U	0.012048	T	0.19604	0.0471	N	0.10733	0.035	0.28523	N	0.912942	B;B;P	0.43578	0.434;0.084;0.811	B;B;B	0.35688	0.157;0.066;0.208	T	0.06844	-1.0804	10	0.41790	T	0.15	.	9.9227	0.41474	0.2258:0.0:0.7742:0.0	.	303;303;303	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	M	303	ENSP00000403412:T303M;ENSP00000370054:T303M;ENSP00000402640:T303M;ENSP00000323275:T303M;ENSP00000299561:T303M	ENSP00000323275:T303M	T	-	2	0	DYX1C1	53514534	0.999000	0.42202	0.999000	0.59377	0.984000	0.73092	2.553000	0.45837	1.320000	0.45209	0.563000	0.77884	ACG	DYX1C1	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000256061		0.318	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYX1C1	HGNC	protein_coding	OTTHUMT00000254976.1	70	0.00	0	G	NM_130810		55727242	55727242	-1	no_errors	ENST00000321149	ensembl	human	known	69_37n	missense	79	23.81	25	SNP	0.872	A
EDC4	23644	genome.wustl.edu	37	16	67917881	67917881	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr16:67917881C>A	ENST00000358933.5	+	29	4275	c.4036C>A	c.(4036-4038)Cac>Aac	p.H1346N	NRN1L_ENST00000576147.1_5'Flank|CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000339176.3_5'Flank	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1346					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.H1346N(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCCGTGATGCACCTGGACCA	0.637											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											2	Substitution - Missense(2)	endometrium(1)|kidney(1)											66.0	59.0	61.0					16																	67917881		2198	4300	6498	-	-	-	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.4036C>A	16.37:g.67917881C>A	ENSP00000351811:p.His1346Asn	1103	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1346N	ENST00000358933.5	37	c.4036	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625078	0.46840	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.24	5.24	0.73138	.	0.043316	0.85682	D	0.000000	T	0.40815	0.1132	N	0.12569	0.235	0.45962	D	0.998783	B	0.06786	0.001	B	0.06405	0.002	T	0.24297	-1.0164	9	0.15499	T	0.54	-16.5403	18.7721	0.91896	0.0:1.0:0.0:0.0	.	1346	Q6P2E9	EDC4_HUMAN	N	1346	.	ENSP00000351811:H1346N	H	+	1	0	EDC4	66475382	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.627000	0.61276	2.622000	0.88805	0.655000	0.94253	CAC	EDC4	-	NULL	ENSG00000038358		0.637	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	27	0.00	0	C	NM_014329		67917881	67917881	+1	no_errors	ENST00000358933	ensembl	human	known	69_37n	missense	29	16.67	6	SNP	1.000	A
FLG2	388698	genome.wustl.edu	37	1	152329372	152329372	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr1:152329372G>A	ENST00000388718.5	-	3	962	c.890C>T	c.(889-891)tCt>tTt	p.S297F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	297	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGACAAGAACTTGAAGC	0.473																																						dbGAP											0													208.0	195.0	199.0					1																	152329372		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.890C>T	1.37:g.152329372G>A	ENSP00000373370:p.Ser297Phe		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S297F	ENST00000388718.5	37	c.890	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	9.486	1.099327	0.20552	.	.	ENSG00000143520	ENST00000388718	T	0.00873	5.59	5.32	4.41	0.53225	.	.	.	.	.	T	0.00384	0.0012	L	0.44542	1.39	0.29844	N	0.828981	B	0.33748	0.423	B	0.31751	0.135	T	0.33979	-0.9847	9	0.09338	T	0.73	-7.2045	10.3028	0.43663	0.0918:0.0:0.9082:0.0	.	297	Q5D862	FILA2_HUMAN	F	297	ENSP00000373370:S297F	ENSP00000373370:S297F	S	-	2	0	FLG2	150595996	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	2.624000	0.46444	1.396000	0.46663	0.557000	0.71058	TCT	FLG2	-	NULL	ENSG00000143520		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	72	0.00	0	G	NM_001014342		152329372	152329372	-1	no_errors	ENST00000388718	ensembl	human	known	69_37n	missense	86	24.35	28	SNP	1.000	A
GNPAT	8443	genome.wustl.edu	37	1	231406538	231406538	+	Silent	SNP	C	C	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr1:231406538C>T	ENST00000366647.4	+	10	1483	c.1314C>T	c.(1312-1314)agC>agT	p.S438S	GNPAT_ENST00000366646.3_Silent_p.S377S	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	438					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCCCGGCCAGCATTCTTCTGC	0.493																																						dbGAP											0													144.0	140.0	142.0					1																	231406538		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1314C>T	1.37:g.231406538C>T			B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.S438	ENST00000366647.4	37	c.1314	CCDS1592.1	1																																																																																			GNPAT	-	NULL	ENSG00000116906		0.493	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	71	0.00	0	C			231406538	231406538	+1	no_errors	ENST00000366647	ensembl	human	known	69_37n	silent	117	18.75	27	SNP	0.015	T
GUCY2C	2984	genome.wustl.edu	37	12	14774139	14774139	+	Silent	SNP	G	G	A			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr12:14774139G>A	ENST00000261170.3	-	23	2749	c.2613C>T	c.(2611-2613)atC>atT	p.I871I	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	871	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACGCATCACCGATGGTTTCCA	0.443																																						dbGAP											0													184.0	166.0	172.0					12																	14774139		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2613C>T	12.37:g.14774139G>A			B2RMY6	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.I871	ENST00000261170.3	37	c.2613	CCDS8664.1	12																																																																																			GUCY2C	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000070019		0.443	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	87	0.00	0	G			14774139	14774139	-1	no_errors	ENST00000261170	ensembl	human	known	69_37n	silent	90	25.62	31	SNP	0.989	A
GUCY2C	2984	genome.wustl.edu	37	12	14822720	14822720	+	Silent	SNP	A	A	C			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr12:14822720A>C	ENST00000261170.3	-	10	1354	c.1218T>G	c.(1216-1218)ccT>ccG	p.P406P	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	406					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCATATCCACAGGATAGGTCT	0.393																																						dbGAP											0													125.0	120.0	122.0					12																	14822720		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1218T>G	12.37:g.14822720A>C			B2RMY6	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.P406	ENST00000261170.3	37	c.1218	CCDS8664.1	12																																																																																			GUCY2C	-	NULL	ENSG00000070019		0.393	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	142	0.00	0	A			14822720	14822720	-1	no_errors	ENST00000261170	ensembl	human	known	69_37n	silent	143	21.86	40	SNP	0.000	C
INADL	10207	genome.wustl.edu	37	1	62293124	62293124	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr1:62293124C>T	ENST00000371158.2	+	16	1963	c.1849C>T	c.(1849-1851)Cgc>Tgc	p.R617C	INADL_ENST00000316485.6_Missense_Mutation_p.R617C	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	617	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGGAAAATCTCGCCGAGAAGC	0.423																																						dbGAP											0													140.0	146.0	144.0					1																	62293124		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1849C>T	1.37:g.62293124C>T	ENSP00000360200:p.Arg617Cys		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.R617C	ENST00000371158.2	37	c.1849	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188723	0.78789	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.39406	1.08;1.08	5.63	5.63	0.86233	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.67401	0.2889	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	T	0.69514	-0.5125	10	0.72032	D	0.01	.	19.6818	0.95967	0.0:1.0:0.0:0.0	.	617;617;617	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	C	617	ENSP00000360200:R617C;ENSP00000326199:R617C	ENSP00000255202:R617C	R	+	1	0	INADL	62065712	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.795000	0.62489	2.641000	0.89580	0.591000	0.81541	CGC	INADL	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000132849		0.423	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	113	0.00	0	C	NM_170605		62293124	62293124	+1	no_errors	ENST00000371158	ensembl	human	known	69_37n	missense	78	33.05	39	SNP	1.000	T
IGSF3	3321	genome.wustl.edu	37	1	117158982	117158982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr1:117158982G>T	ENST00000369486.3	-	3	906	c.141C>A	c.(139-141)taC>taA	p.Y47*	IGSF3_ENST00000369483.1_Nonsense_Mutation_p.Y47*|IGSF3_ENST00000318837.6_Nonsense_Mutation_p.Y47*	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	47	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AAGGTCCCTGGTAGCCACTCA	0.572																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.141C>A	1.37:g.117158982G>T	ENSP00000358498:p.Tyr47*		A6NJZ6|A6NMC7	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Y47*	ENST00000369486.3	37	c.141	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863871	0.71949	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	.	.	.	4.65	3.65	0.41850	.	0.463445	0.23369	N	0.048939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8621	9.5493	0.39299	0.1132:0.0:0.8868:0.0	.	.	.	.	X	47	.	ENSP00000321184:Y47X	Y	-	3	2	IGSF3	116960505	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.265000	0.43311	2.386000	0.81285	0.555000	0.69702	TAC	IGSF3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000143061		0.572	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	37	0.00	0	G	NM_001542		117158982	117158982	-1	no_errors	ENST00000318837	ensembl	human	known	69_37n	nonsense	27	22.22	8	SNP	0.994	T
ITPR2	3709	genome.wustl.edu	37	12	26818867	26818867	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr12:26818867C>T	ENST00000381340.3	-	14	1943	c.1527G>A	c.(1525-1527)atG>atA	p.M509I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	509	Inositol 1,4,5-trisphosphate binding. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTTGTTCCCTCATCAATTTTT	0.348																																						dbGAP											0													117.0	104.0	108.0					12																	26818867		1822	4095	5917	-	-	-	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1527G>A	12.37:g.26818867C>T	ENSP00000370744:p.Met509Ile		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.M509I	ENST00000381340.3	37	c.1527	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961197	0.74016	.	.	ENSG00000123104	ENST00000381340	D	0.88975	-2.45	5.27	5.27	0.74061	Intracellular calcium-release channel (1);	0.037203	0.85682	D	0.000000	D	0.92770	0.7701	L	0.54965	1.715	0.80722	D	1	D	0.55800	0.973	D	0.67103	0.949	D	0.91294	0.5061	10	0.36615	T	0.2	.	19.0749	0.93156	0.0:1.0:0.0:0.0	.	509	Q14571	ITPR2_HUMAN	I	509	ENSP00000370744:M509I	ENSP00000370744:M509I	M	-	3	0	ITPR2	26710134	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.634000	0.83273	2.716000	0.92895	0.591000	0.81541	ATG	ITPR2	-	pfam_Ca-rel_channel	ENSG00000123104		0.348	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	153	0.00	0	C	NM_002223		26818867	26818867	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	missense	147	25.00	49	SNP	1.000	T
MACF1	23499	genome.wustl.edu	37	1	39918358	39918358	+	Silent	SNP	G	G	A	rs551211157		TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr1:39918358G>A	ENST00000372915.3	+	86	20400	c.20313G>A	c.(20311-20313)gcG>gcA	p.A6771A	MACF1_ENST00000567887.1_Silent_p.A6909A|MACF1_ENST00000564288.1_Silent_p.A6872A|MACF1_ENST00000317713.7_Silent_p.A4813A|MACF1_ENST00000539005.1_Silent_p.A4683A|MACF1_ENST00000545844.1_Silent_p.A4813A|MACF1_ENST00000289893.4_Silent_p.A5315A|MACF1_ENST00000361689.2_Silent_p.A4813A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6771					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATTTCAGGCGGAAGTGTTTC	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17962	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													215.0	207.0	210.0					1																	39918358		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20313G>A	1.37:g.39918358G>A			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_EF_HAND_2	p.G3817R	ENST00000372915.3	37	c.11449		1	.	.	.	.	.	.	.	.	.	.	G	4.964	0.179133	0.09443	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.91	-4.3	0.03710	.	.	.	.	.	T	0.35537	0.0935	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36915	-0.9728	4	.	.	.	.	0.4827	0.00551	0.2775:0.1803:0.2816:0.2605	.	.	.	.	R	3817	.	.	G	+	1	0	MACF1	39690945	0.005000	0.15991	0.975000	0.42487	0.871000	0.50021	-0.940000	0.03929	-0.683000	0.05190	-2.032000	0.00423	GGA	MACF1	-	pfam_Spectrin_repeat	ENSG00000127603		0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	92	0.00	0	G	NM_033044		39918358	39918358	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000372925	ensembl	human	novel	69_37n	missense	111	23.13	34	SNP	0.160	A
JAK1	3716	genome.wustl.edu	37	1	65307285	65307285	+	Splice_Site	SNP	C	C	G			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr1:65307285C>G	ENST00000342505.4	-	18	2652		c.e18-1		JAK1_ENST00000465376.1_Splice_Site	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1						cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ATCTCTCTTTCTGTAAACAAG	0.493			Mis		ALL																																	dbGAP		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													75.0	70.0	72.0					1																	65307285		1896	4119	6015	-	-	-	SO:0001630	splice_region_variant	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2404-1G>C	1.37:g.65307285C>G			Q59GQ2|Q9UD26	Splice_Site	SNP	-	e17-1	ENST00000342505.4	37	c.2404-1	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755552	0.69648	.	.	ENSG00000162434	ENST00000342505	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4122	0.87489	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAK1	65079873	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.231000	0.78106	2.400000	0.81607	0.557000	0.71058	.	JAK1	-	-	ENSG00000162434		0.493	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	48	0.00	0	C	NM_002227	Intron	65307285	65307285	-1	no_errors	ENST00000342505	ensembl	human	known	69_37n	splice_site	41	19.61	10	SNP	1.000	G
MAGEB1	4112	genome.wustl.edu	37	X	30268685	30268685	+	Silent	SNP	C	C	G			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chrX:30268685C>G	ENST00000378981.3	+	4	396	c.75C>G	c.(73-75)ctC>ctG	p.L25L	MAGEB1_ENST00000397550.1_Silent_p.L25L|MAGEB1_ENST00000397548.2_Silent_p.L25L	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	25										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCAGGGTCTCAAGGTTGCTC	0.602																																						dbGAP											0													44.0	33.0	37.0					X																	30268685		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.75C>G	X.37:g.30268685C>G			B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L25	ENST00000378981.3	37	c.75	CCDS14222.1	X																																																																																			MAGEB1	-	pfam_Melanoma_ass_antigen_N	ENSG00000214107		0.602	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	30	0.00	0	C	NM_002363		30268685	30268685	+1	no_errors	ENST00000378981	ensembl	human	known	69_37n	silent	38	19.15	9	SNP	0.000	G
MAP2K4	6416	genome.wustl.edu	37	17	12044463	12044463	+	Splice_Site	SNP	G	G	C			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr17:12044463G>C	ENST00000353533.5	+	11	1149		c.e11-1		MAP2K4_ENST00000415385.3_Splice_Site	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTTTCTTGCAGAAACATCCCT	0.398			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	12	Whole gene deletion(10)|Unknown(2)	ovary(4)|breast(4)|pancreas(2)|biliary_tract(1)|lung(1)											98.0	91.0	93.0					17																	12044463		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1087-1G>C	17.37:g.12044463G>C			B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Splice_Site	SNP	-	e12-1	ENST00000353533.5	37	c.1120-1	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658597	0.67586	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9978	0.89189	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K4	11985188	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.657000	0.98554	2.778000	0.95560	0.650000	0.86243	.	MAP2K4	-	-	ENSG00000065559		0.398	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	127	0.00	0	G		Intron	12044463	12044463	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	splice_site	109	32.72	53	SNP	1.000	C
MGAT3	4248	genome.wustl.edu	37	22	39884229	39884229	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr22:39884229C>T	ENST00000341184.6	+	2	1092	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	293					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.R293C(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CGACTACCTGCGCACCTTCCT	0.667																																						dbGAP											1	Substitution - Missense(1)	lung(1)											58.0	60.0	59.0					22																	39884229		2202	4296	6498	-	-	-	SO:0001583	missense	0			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.877C>T	22.37:g.39884229C>T	ENSP00000345270:p.Arg293Cys		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	pfam_Glyco_trans_17	p.R293C	ENST00000341184.6	37	c.877	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340606	0.81911	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.79764	0.4502	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82078	-0.0635	9	0.87932	D	0	.	14.4435	0.67333	0.1472:0.8528:0.0:0.0	.	293	Q09327	MGAT3_HUMAN	C	293	.	ENSP00000345270:R293C	R	+	1	0	MGAT3	38214175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.437000	0.66544	2.653000	0.90120	0.561000	0.74099	CGC	MGAT3	-	pfam_Glyco_trans_17	ENSG00000128268		0.667	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	15	0.00	0	C	NM_002409		39884229	39884229	+1	no_errors	ENST00000341184	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151860481	151860481	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr7:151860481C>T	ENST00000262189.6	-	43	10399	c.10181G>A	c.(10180-10182)aGt>aAt	p.S3394N	KMT2C_ENST00000355193.2_Missense_Mutation_p.S3394N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3394	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTCTTGAAAACTTTCACTAAA	0.463																																						dbGAP											0													149.0	141.0	144.0					7																	151860481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10181G>A	7.37:g.151860481C>T	ENSP00000262189:p.Ser3394Asn		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S3394N	ENST00000262189.6	37	c.10181	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010269	0.54361	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83755	-1.76;-1.76	5.28	5.28	0.74379	.	0.000000	0.53938	D	0.000044	D	0.88644	0.6492	L	0.60455	1.87	0.80722	D	1	D;D;P	0.67145	0.995;0.996;0.873	D;D;P	0.71656	0.957;0.974;0.544	D	0.88733	0.3238	10	0.52906	T	0.07	.	14.5302	0.67920	0.0:0.8539:0.1461:0.0	.	3394;2455;3394	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	N	3394	ENSP00000262189:S3394N;ENSP00000347325:S3394N	ENSP00000262189:S3394N	S	-	2	0	MLL3	151491414	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	4.002000	0.57053	2.465000	0.83290	0.655000	0.94253	AGT	MLL3	-	NULL	ENSG00000055609		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	80	0.00	0	C			151860481	151860481	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	106	29.61	45	SNP	1.000	T
NBPF1	55672	genome.wustl.edu	37	1	16899669	16899669	+	Silent	SNP	C	C	T	rs373211172		TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr1:16899669C>T	ENST00000430580.2	-	22	3305	c.2418G>A	c.(2416-2418)gaG>gaA	p.E806E	NBPF1_ENST00000432949.1_Silent_p.E264E|NBPF1_ENST00000420031.2_Silent_p.E24E|NBPF1_ENST00000287968.8_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	806	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.|Poly-Glu.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTTCCTCTTCCTCATCATCAC	0.383																																						dbGAP											0													3.0	2.0	2.0					1																	16899669		574	1351	1925	-	-	-	SO:0001819	synonymous_variant	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2418G>A	1.37:g.16899669C>T			Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.383	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	15	0.00	0	C	NM_017940		16899669	16899669	-1	no_errors	ENST00000287968	ensembl	human	known	69_37n	rna	5	37.50	3	SNP	0.002	T
NCR1	9437	genome.wustl.edu	37	19	55417683	55417683	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr19:55417683G>A	ENST00000291890.4	+	2	99	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	NCR1_ENST00000594765.1_Missense_Mutation_p.A21T|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Missense_Mutation_p.A21T|NCR1_ENST00000598576.1_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.A21T|NCR1_ENST00000338835.5_Missense_Mutation_p.A21T	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	21					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GAGGATCAGCGCCCAGCAGCG	0.612																																						dbGAP											0													98.0	81.0	87.0					19																	55417683		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.61G>A	19.37:g.55417683G>A	ENSP00000291890:p.Ala21Thr		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	smart_Ig_sub	p.A21T	ENST00000291890.4	37	c.61	CCDS12911.1	19	.	.	.	.	.	.	.	.	.	.	G	0.313	-0.966521	0.02232	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790	T;T;T;T	0.00504	6.98;7.0;7.11;6.94	3.2	-6.39	0.01951	.	1.401140	0.05204	N	0.505539	T	0.00271	0.0008	N	0.11284	0.12	0.18873	N	0.999988	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.06405	0.0;0.001;0.0;0.002;0.001	T	0.41840	-0.9486	10	0.25106	T	0.35	.	5.3595	0.16079	0.3463:0.0:0.4136:0.24	.	21;21;21;21;21	B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;NCTR1_HUMAN	T	21	ENSP00000291890:A21T;ENSP00000404434:A21T;ENSP00000339515:A21T;ENSP00000344358:A21T	ENSP00000291890:A21T	A	+	1	0	NCR1	60109495	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.482000	0.00981	-2.509000	0.00505	-1.154000	0.01816	GCC	NCR1	-	NULL	ENSG00000189430		0.612	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	HGNC	protein_coding	OTTHUMT00000465680.1	93	0.00	0	G			55417683	55417683	+1	no_errors	ENST00000291890	ensembl	human	known	69_37n	missense	90	21.05	24	SNP	0.000	A
PGAP1	80055	genome.wustl.edu	37	2	197744811	197744811	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr2:197744811G>A	ENST00000354764.4	-	13	1453	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C	PGAP1_ENST00000409475.1_Missense_Mutation_p.R447C	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	447					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TTACTTCCACGAACAGATGGT	0.303																																						dbGAP											0													66.0	60.0	62.0					2																	197744811		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1339C>T	2.37:g.197744811G>A	ENSP00000346809:p.Arg447Cys		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.R447C	ENST00000354764.4	37	c.1339	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487271	0.44249	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475	.	.	.	5.27	4.32	0.51571	.	0.359123	0.32343	N	0.006228	T	0.25382	0.0617	N	0.08118	0	0.80722	D	1	P;B	0.37864	0.61;0.431	B;B	0.36885	0.235;0.083	T	0.05784	-1.0864	9	0.51188	T	0.08	-8.5494	7.9115	0.29793	0.0:0.1621:0.6476:0.1904	.	447;447	Q75T13-3;Q75T13	.;PGAP1_HUMAN	C	227;447;447	.	ENSP00000346809:R447C	R	-	1	0	PGAP1	197453056	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	2.483000	0.45233	2.746000	0.94184	0.561000	0.74099	CGT	PGAP1	-	NULL	ENSG00000197121		0.303	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	81	0.00	0	G	NM_024989		197744811	197744811	-1	no_errors	ENST00000354764	ensembl	human	known	69_37n	missense	75	26.47	27	SNP	0.979	A
PINX1	54984	genome.wustl.edu	37	8	10623041	10623041	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr8:10623041C>T	ENST00000314787.3	-	7	976	c.857G>A	c.(856-858)gGc>gAc	p.G286D	SOX7_ENST00000553390.1_Intron|PINX1_ENST00000519088.1_3'UTR|SOX7_ENST00000554914.1_Intron|CTD-2135J3.3_ENST00000506149.2_RNA|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000426190.2_3'UTR	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	286	Telomerase inhibitory domain (TID).				mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GAAGTCCCGGCCCTCAGGCGG	0.572																																						dbGAP											0													52.0	52.0	52.0					8																	10623041		1869	4097	5966	-	-	-	SO:0001583	missense	0			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.857G>A	8.37:g.10623041C>T	ENSP00000318966:p.Gly286Asp		B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.G286D	ENST00000314787.3	37	c.857	CCDS47801.1	8	.	.	.	.	.	.	.	.	.	.	C	9.184	1.024382	0.19433	.	.	ENSG00000254093	ENST00000314787	T	0.11495	2.77	5.8	-7.58	0.01313	.	1.101250	0.06754	N	0.780628	T	0.04048	0.0113	N	0.21373	0.66	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44128	-0.9348	10	0.07990	T	0.79	.	0.7692	0.01020	0.2017:0.3238:0.261:0.2136	.	286	Q96BK5	PINX1_HUMAN	D	286	ENSP00000318966:G286D	ENSP00000318966:G286D	G	-	2	0	PINX1	10660451	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.555000	0.02170	-1.170000	0.02769	-0.345000	0.07892	GGC	PINX1	-	NULL	ENSG00000254093		0.572	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINX1	HGNC	protein_coding	OTTHUMT00000375683.1	91	0.00	0	C	NM_017884		10623041	10623041	-1	no_errors	ENST00000314787	ensembl	human	known	69_37n	missense	58	36.46	35	SNP	0.000	T
POTEE	445582	genome.wustl.edu	37	2	132021946	132021946	+	Missense_Mutation	SNP	G	G	A	rs62178369	byFrequency	TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr2:132021946G>A	ENST00000356920.5	+	15	3012	c.2918G>A	c.(2917-2919)gGc>gAc	p.G973D	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	973	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GAATCCTGTGGCATCCATGAA	0.572																																						dbGAP											0													2.0	1.0	1.0					2																	132021946		585	948	1533	-	-	-	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2918G>A	2.37:g.132021946G>A	ENSP00000439189:p.Gly973Asp		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.G973D	ENST00000356920.5	37	c.2918	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	15.99	2.994529	0.54041	.	.	ENSG00000188219	ENST00000356920	D	0.97352	-4.35	.	.	.	.	.	.	.	.	D	0.99074	0.9682	H	0.99946	5.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96048	0.9029	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	973	Q6S8J3	POTEE_HUMAN	D	973	ENSP00000439189:G973D	ENSP00000439189:G973D	G	+	2	0	AC131180.1	131738416	1.000000	0.71417	0.305000	0.25099	0.308000	0.27856	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	GGC	AC131180.1	-	pfam_Actin-like,smart_Actin-like	ENSG00000188219		0.572	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Clone_based_ensembl_gene	protein_coding		11	0.00	0	G	NM_001083538		132021946	132021946	+1	no_errors	ENST00000356920	ensembl	human	known	69_37n	missense	20	32.26	10	SNP	1.000	A
RSPO2	340419	genome.wustl.edu	37	8	108973037	108973037	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr8:108973037T>A	ENST00000276659.5	-	4	912	c.292A>T	c.(292-294)Ata>Tta	p.I98L	RSPO2_ENST00000517781.1_Missense_Mutation_p.I35L|RSPO2_ENST00000517939.1_Missense_Mutation_p.I31L|RSPO2_ENST00000378439.2_Missense_Mutation_p.I35L	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	98					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CAGTTTTCTATTCTGCATCCT	0.313																																						dbGAP											0													49.0	48.0	49.0					8																	108973037		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.292A>T	8.37:g.108973037T>A	ENSP00000276659:p.Ile98Leu		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.I98L	ENST00000276659.5	37	c.292	CCDS6307.1	8	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517152	0.85495	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502;ENST00000521757;ENST00000521956;ENST00000520026	D;D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.86	5.86	0.93980	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.88959	0.6579	L	0.33668	1.02	0.52501	D	0.999956	P;P	0.51147	0.942;0.832	D;B	0.64595	0.927;0.424	D	0.86378	0.1727	10	0.21014	T	0.42	-6.1834	16.261	0.82547	0.0:0.0:0.0:1.0	.	98;35	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	L	31;35;35;98;31;31;98;70	ENSP00000428940:I31L;ENSP00000427937:I35L;ENSP00000367698:I35L;ENSP00000276659:I98L;ENSP00000428614:I31L;ENSP00000430485:I31L;ENSP00000430010:I98L;ENSP00000429159:I70L	ENSP00000276659:I98L	I	-	1	0	RSPO2	109042213	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.242000	0.72376	2.246000	0.74042	0.445000	0.29226	ATA	RSPO2	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat	ENSG00000147655		0.313	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO2	HGNC	protein_coding	OTTHUMT00000380830.1	54	0.00	0	T	NM_178565		108973037	108973037	-1	no_errors	ENST00000276659	ensembl	human	known	69_37n	missense	79	15.96	15	SNP	1.000	A
SEC24D	9871	genome.wustl.edu	37	4	119718868	119718868	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr4:119718868G>C	ENST00000280551.6	-	8	1249	c.1011C>G	c.(1009-1011)atC>atG	p.I337M	SEC24D_ENST00000419654.2_De_novo_Start_OutOfFrame|SEC24D_ENST00000379735.5_Missense_Mutation_p.I338M			O94855	SC24D_HUMAN	SEC24 family member D	337					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CAAAGGGCTTGATGACAGCAG	0.373																																						dbGAP											0													113.0	100.0	104.0					4																	119718868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1011C>G	4.37:g.119718868G>C	ENSP00000280551:p.Ile337Met		Q8IYI7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.I338M	ENST00000280551.6	37	c.1014	CCDS3710.1	4	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425224	0.62733	.	.	ENSG00000150961	ENST00000280551;ENST00000379735	T;T	0.32272	1.46;1.46	5.55	3.77	0.43336	.	0.049223	0.85682	D	0.000000	T	0.51601	0.1684	M	0.85041	2.73	0.80722	D	1	D;P	0.54397	0.966;0.935	P;P	0.62014	0.897;0.641	T	0.52155	-0.8613	10	0.87932	D	0	-26.3366	6.3589	0.21417	0.1555:0.0:0.6957:0.1488	.	338;337	O94855-2;O94855	.;SC24D_HUMAN	M	337;338	ENSP00000280551:I337M;ENSP00000369059:I338M	ENSP00000280551:I337M	I	-	3	3	SEC24D	119938316	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	2.403000	0.44530	0.653000	0.30826	0.655000	0.94253	ATC	SEC24D	-	NULL	ENSG00000150961		0.373	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4	80	0.00	0	G			119718868	119718868	-1	no_errors	ENST00000379735	ensembl	human	known	69_37n	missense	58	31.76	27	SNP	1.000	C
SEC31B	25956	genome.wustl.edu	37	10	102266117	102266117	+	Silent	SNP	C	C	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr10:102266117C>T	ENST00000370345.3	-	8	940	c.843G>A	c.(841-843)aaG>aaA	p.K281K	SEC31B_ENST00000535773.1_Silent_p.K124K|SEC31B_ENST00000451524.1_Silent_p.K281K|SEC31B_ENST00000370329.5_Silent_p.K284K	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	281					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TCTGGCTGTCCTTAGCACTAG	0.537																																						dbGAP											0													89.0	72.0	78.0					10																	102266117		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.843G>A	10.37:g.102266117C>T			B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K281	ENST00000370345.3	37	c.843	CCDS7495.1	10																																																																																			SEC31B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000075826		0.537	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	45	0.00	0	C	NM_015490		102266117	102266117	-1	no_errors	ENST00000370345	ensembl	human	known	69_37n	silent	94	15.32	17	SNP	1.000	T
SEL1L2	80343	genome.wustl.edu	37	20	13846124	13846124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr20:13846124C>A	ENST00000284951.5	-	16	1515	c.1441G>T	c.(1441-1443)Gag>Tag	p.E481*	SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	481						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGGAATTTCTCAGCCCAGTGG	0.438																																						dbGAP											0													85.0	80.0	82.0					20																	13846124		1900	4113	6013	-	-	-	SO:0001587	stop_gained	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1441G>T	20.37:g.13846124C>A	ENSP00000284951:p.Glu481*		B4DXX5	Nonsense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.E481*	ENST00000284951.5	37	c.1441		20	.	.	.	.	.	.	.	.	.	.	C	38	6.885166	0.97908	.	.	ENSG00000101251	ENST00000284951	.	.	.	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-14.4745	17.7379	0.88399	0.0:1.0:0.0:0.0	.	.	.	.	X	481	.	ENSP00000284951:E481X	E	-	1	0	SEL1L2	13794124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.943000	0.75934	2.774000	0.95407	0.655000	0.94253	GAG	SEL1L2	-	NULL	ENSG00000101251		0.438	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	58	0.00	0	C	NM_025229		13846124	13846124	-1	no_errors	ENST00000284951	ensembl	human	known	69_37n	nonsense	66	22.35	19	SNP	1.000	A
SH3D21	79729	genome.wustl.edu	37	1	36785498	36785498	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr1:36785498A>G	ENST00000426732.2	+	13	1171	c.886A>G	c.(886-888)Aaa>Gaa	p.K296E	SH3D21_ENST00000312808.4_Missense_Mutation_p.K58E|SH3D21_ENST00000453908.2_Missense_Mutation_p.K412E|SH3D21_ENST00000505871.1_Missense_Mutation_p.K301E|EVA1B_ENST00000490466.1_5'Flank			A4FU49	SH321_HUMAN	SH3 domain containing 21	296						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AGCTCCTGACAAAGTCCCCAC	0.582																																						dbGAP											0													56.0	63.0	61.0					1																	36785498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.886A>G	1.37:g.36785498A>G	ENSP00000408613:p.Lys296Glu		B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.K412E	ENST00000426732.2	37	c.1234		1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396337	0.25205	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.59224	1.1;1.54;0.28;1.45	3.04	0.493	0.16878	.	561.913000	0.00166	N	0.000001	T	0.54759	0.1878	L	0.46157	1.445	0.09310	N	1	P;B	0.36048	0.534;0.399	B;B	0.39119	0.291;0.212	T	0.41288	-0.9517	9	.	.	.	.	8.2764	0.31874	0.612:0.3879:0.0:0.0	.	301;296	A4FU49-3;A4FU49	.;SH321_HUMAN	E	412;296;58;301	ENSP00000403476:K412E;ENSP00000408613:K296E;ENSP00000321936:K58E;ENSP00000421294:K301E	.	K	+	1	0	SH3D21	36558085	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	0.442000	0.21628	0.071000	0.16664	-0.460000	0.05396	AAA	SH3D21	-	NULL	ENSG00000214193		0.582	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	HGNC	protein_coding		42	0.00	0	A	NM_024676		36785498	36785498	+1	no_errors	ENST00000453908	ensembl	human	known	69_37n	missense	36	36.84	21	SNP	0.001	G
SLC26A4	5172	genome.wustl.edu	37	7	107353011	107353011	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr7:107353011A>G	ENST00000265715.3	+	20	2487	c.2263A>G	c.(2263-2265)Acc>Gcc	p.T755A	SLC26A4_ENST00000543100.1_Missense_Mutation_p.T324A|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T316A|SLC26A4_ENST00000544569.1_Missense_Mutation_p.T342A	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	755					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGTAAAGATACCCTTGAATT	0.353									Pendred syndrome																													dbGAP											0													134.0	134.0	134.0					7																	107353011		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2263A>G	7.37:g.107353011A>G	ENSP00000265715:p.Thr755Ala		B7Z266|O43170	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.T755A	ENST00000265715.3	37	c.2263	CCDS5746.1	7	.	.	.	.	.	.	.	.	.	.	A	10.53	1.377150	0.24944	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94330	-3.08;-3.33;-3.39;-3.4	5.4	4.51	0.55191	.	0.172061	0.40640	N	0.001047	D	0.85695	0.5756	N	0.08118	0	0.26282	N	0.97827	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.75202	-0.3401	10	0.39692	T	0.17	.	15.5078	0.75753	0.1414:0.8586:0.0:0.0	.	316;342;755	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	A	755;316;342;324	ENSP00000265715:T755A;ENSP00000439743:T316A;ENSP00000437427:T342A;ENSP00000441209:T324A	ENSP00000265715:T755A	T	+	1	0	SLC26A4	107140247	1.000000	0.71417	0.998000	0.56505	0.148000	0.21650	3.121000	0.50438	1.399000	0.46721	-0.294000	0.09567	ACC	SLC26A4	-	NULL	ENSG00000091137		0.353	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	154	0.00	0	A	NM_000441		107353011	107353011	+1	no_errors	ENST00000265715	ensembl	human	known	69_37n	missense	159	24.29	51	SNP	1.000	G
SLC4A5	57835	genome.wustl.edu	37	2	74477542	74477542	+	Silent	SNP	G	G	A			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr2:74477542G>A	ENST00000377634.4	-	17	1980	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Silent_p.F527F|SLC4A5_ENST00000377632.1_Silent_p.F527F|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Silent_p.F527F|SLC4A5_ENST00000358683.4_Silent_p.F463F|SLC4A5_ENST00000346834.4_Silent_p.F527F|SLC4A5_ENST00000357822.5_Silent_p.F527F|SLC4A5_ENST00000359484.4_Silent_p.F463F					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						CGAGGTAGATGAATAGGATGG	0.532											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													170.0	159.0	163.0					2																	74477542		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.1581C>T	2.37:g.74477542G>A		1153		Silent	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.F527	ENST00000377634.4	37	c.1581	CCDS1936.1	2																																																																																			SLC4A5	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000188687		0.532	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	HGNC	protein_coding	OTTHUMT00000206583.3	97	0.00	0	G			74477542	74477542	-1	no_errors	ENST00000357822	ensembl	human	known	69_37n	silent	68	19.05	16	SNP	1.000	A
SMYD1	150572	genome.wustl.edu	37	2	88405936	88405936	+	Silent	SNP	G	G	A			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr2:88405936G>A	ENST00000419482.2	+	8	1159	c.1074G>A	c.(1072-1074)tcG>tcA	p.S358S	SMYD1_ENST00000444564.2_Silent_p.S345S|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	358					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.S358S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GCATTGTTTCGGAGGTCCTTT	0.522																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											168.0	134.0	145.0					2																	88405936		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1074G>A	2.37:g.88405936G>A			A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.S358	ENST00000419482.2	37	c.1074	CCDS33240.1	2																																																																																			SMYD1	-	NULL	ENSG00000115593		0.522	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	81	0.00	0	G	XM_097915		88405936	88405936	+1	no_errors	ENST00000419482	ensembl	human	known	69_37n	silent	93	22.50	27	SNP	0.001	A
SPHKAP	80309	genome.wustl.edu	37	2	228882873	228882873	+	Silent	SNP	G	G	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr2:228882873G>T	ENST00000392056.3	-	7	2743	c.2697C>A	c.(2695-2697)gtC>gtA	p.V899V	SPHKAP_ENST00000344657.5_Silent_p.V899V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	899						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGACAGGTTGACTTGAACTT	0.493																																						dbGAP											0													343.0	317.0	326.0					2																	228882873		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2697C>A	2.37:g.228882873G>T			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.V899	ENST00000392056.3	37	c.2697	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.493	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	129	0.00	0	G	NM_030623		228882873	228882873	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	silent	151	26.34	54	SNP	0.000	T
TESK2	10420	genome.wustl.edu	37	1	45821107	45821107	+	Silent	SNP	C	C	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr1:45821107C>T	ENST00000372086.3	-	5	808	c.408G>A	c.(406-408)ggG>ggA	p.G136G	TESK2_ENST00000372084.1_Silent_p.G136G|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000538496.1_Silent_p.G53G|TESK2_ENST00000341771.6_Silent_p.G136G	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GTTCCAGGTTCCCGGAGTTGA	0.448																																						dbGAP											0													105.0	96.0	99.0					1																	45821107		1883	4103	5986	-	-	-	SO:0001819	synonymous_variant	0			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.408G>A	1.37:g.45821107C>T			Q5T422|Q5T423|Q8N520|Q9Y3Q6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G136	ENST00000372086.3	37	c.408	CCDS41323.1	1																																																																																			TESK2	-	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	ENSG00000070759		0.448	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	70	0.00	0	C	NM_007170		45821107	45821107	-1	no_errors	ENST00000372086	ensembl	human	known	69_37n	silent	80	23.08	24	SNP	0.996	T
TGS1	96764	genome.wustl.edu	37	8	56723652	56723652	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr8:56723652G>C	ENST00000260129.5	+	11	2833	c.2356G>C	c.(2356-2358)Gat>Cat	p.D786H		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	786	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GATGTCTCCTGATGGATATCC	0.473																																					Esophageal Squamous(34;275 823 4842 34837 48447)	dbGAP											0													98.0	97.0	97.0					8																	56723652		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2356G>C	8.37:g.56723652G>C	ENSP00000260129:p.Asp786His		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.D786H	ENST00000260129.5	37	c.2356	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998626	0.74818	.	.	ENSG00000137574	ENST00000260129	T	0.51325	0.71	5.47	5.47	0.80525	.	0.055041	0.64402	D	0.000001	T	0.57636	0.2067	M	0.66506	2.035	0.80722	D	1	D	0.54397	0.966	P	0.48227	0.571	T	0.63386	-0.6649	10	0.72032	D	0.01	-20.546	19.3307	0.94285	0.0:0.0:1.0:0.0	.	786	Q96RS0	TGS1_HUMAN	H	786	ENSP00000260129:D786H	ENSP00000260129:D786H	D	+	1	0	TGS1	56886206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.823000	0.99369	2.560000	0.86352	0.655000	0.94253	GAT	TGS1	-	pfam_RNA_cap_Gua-N2-MeTrfase	ENSG00000137574		0.473	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1	123	0.00	0	G	NM_024831		56723652	56723652	+1	no_errors	ENST00000260129	ensembl	human	known	69_37n	missense	107	29.41	45	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7578553	7578553	+	Splice_Site	SNP	T	T	C			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr17:7578553T>C	ENST00000269305.4	-	5	566	c.377A>G	c.(376-378)tAc>tGc	p.Y126C	TP53_ENST00000359597.4_Splice_Site_p.Y126C|TP53_ENST00000413465.2_Splice_Site_p.Y126C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site_p.Y126C|TP53_ENST00000420246.2_Splice_Site_p.Y126C|TP53_ENST00000445888.2_Splice_Site_p.Y126C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAGGGGAGTACTGTAGGAA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	30	Deletion - In frame(9)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - Frameshift(6)|Unknown(1)	upper_aerodigestive_tract(6)|large_intestine(4)|central_nervous_system(4)|bone(4)|lung(3)|ovary(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|liver(1)											43.0	43.0	43.0					17																	7578553		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1A>G	17.37:g.7578553T>C			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y126C	ENST00000269305.4	37	c.377	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320083	0.81469	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.989;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-28.2517	13.8301	0.63375	0.0:0.0:0.0:1.0	.	87;126;126;33;126;126;126	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	126;126;126;126;126;126;115;33;33;126;126	ENSP00000410739:Y126C;ENSP00000352610:Y126C;ENSP00000269305:Y126C;ENSP00000398846:Y126C;ENSP00000391127:Y126C;ENSP00000391478:Y126C;ENSP00000423862:Y33C;ENSP00000424104:Y126C;ENSP00000426252:Y126C	ENSP00000269305:Y126C	Y	-	2	0	TP53	7519278	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	7.958000	0.87877	2.206000	0.71126	0.533000	0.62120	TAC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	34	0.00	0	T	NM_000546	Missense_Mutation	7578553	7578553	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	24	47.83	22	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179527763	179527763	+	Intron	SNP	C	C	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr2:179527763C>T	ENST00000591111.1	-	154	34489				TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.P12240P|TTN_ENST00000342992.6_Silent_p.P10501P|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACTTCCTTCGGTGGCAGCA	0.438																																						dbGAP											0													2.0	2.0	2.0					2																	179527763		1082	2561	3643	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-4242G>A	2.37:g.179527763C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P10501	ENST00000591111.1	37	c.31503		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	80	0.00	0	C	NM_133378		179527763	179527763	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	94	18.26	21	SNP	0.001	T
USP15	9958	genome.wustl.edu	37	12	62749202	62749202	+	Silent	SNP	C	C	G			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr12:62749202C>G	ENST00000280377.5	+	8	919	c.861C>G	c.(859-861)ggC>ggG	p.G287G	USP15_ENST00000393654.3_Silent_p.G262G|USP15_ENST00000353364.3_Silent_p.G258G	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	287					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)		AACAGCCAGGCCTCTGTGGCC	0.378																																					Melanoma(181;615 2041 39364 49691 50001)	dbGAP											0													99.0	94.0	96.0					12																	62749202		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.861C>G	12.37:g.62749202C>G			Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.G287	ENST00000280377.5	37	c.861	CCDS58251.1	12																																																																																			USP15	-	pfam_Peptidase_C19	ENSG00000135655		0.378	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	110	0.00	0	C	NM_006313		62749202	62749202	+1	no_errors	ENST00000280377	ensembl	human	known	69_37n	silent	104	24.09	33	SNP	1.000	G
USP34	9736	genome.wustl.edu	37	2	61575105	61575105	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr2:61575105A>G	ENST00000398571.2	-	15	2261	c.2185T>C	c.(2185-2187)Ttc>Ctc	p.F729L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	729					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCCCCAAGGAAGTCCCCAGTT	0.458																																						dbGAP											0													132.0	129.0	130.0					2																	61575105		1954	4141	6095	-	-	-	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2185T>C	2.37:g.61575105A>G	ENSP00000381577:p.Phe729Leu		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.F729L	ENST00000398571.2	37	c.2185	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	A	14.41	2.526869	0.44969	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03386	3.95	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	N	0.19112	0.55	0.58432	D	0.999999	P	0.49447	0.924	P	0.57776	0.827	T	0.57745	-0.7758	10	0.15499	T	0.54	.	15.6483	0.77070	1.0:0.0:0.0:0.0	.	729	Q70CQ2	UBP34_HUMAN	L	577;577;729	ENSP00000381577:F729L	ENSP00000263989:F577L	F	-	1	0	USP34	61428609	1.000000	0.71417	0.997000	0.53966	0.004000	0.04260	8.730000	0.91510	2.103000	0.63969	0.528000	0.53228	TTC	USP34	-	NULL	ENSG00000115464		0.458	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	67	0.00	0	A			61575105	61575105	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	missense	67	27.96	26	SNP	1.000	G
VRK3	51231	genome.wustl.edu	37	19	50491661	50491661	+	Silent	SNP	G	G	A	rs573877944		TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr19:50491661G>A	ENST00000599538.1	-	12	1849	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	VRK3_ENST00000377011.2_Silent_p.P345P|VRK3_ENST00000601912.1_Silent_p.P345P|VRK3_ENST00000424804.2_5'Flank|VRK3_ENST00000443401.2_Silent_p.P164P|VRK3_ENST00000594092.1_Silent_p.P395P|VRK3_ENST00000594948.1_Silent_p.P395P|VRK3_ENST00000601341.1_Silent_p.P345P|VRK3_ENST00000316763.3_Silent_p.P395P|VRK3_ENST00000593919.1_Silent_p.P395P			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	395	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CCTCAGTGTTGGGAAGGCAAT	0.587																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	dbGAP											0													118.0	108.0	111.0					19																	50491661		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.1185C>T	19.37:g.50491661G>A			A6NEG5|A8KA53|Q502Y2|Q9P2V8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.P395	ENST00000599538.1	37	c.1185	CCDS12791.1	19																																																																																			VRK3	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000105053		0.587	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	HGNC	protein_coding	OTTHUMT00000464815.1	72	0.00	0	G	NM_016440		50491661	50491661	-1	no_errors	ENST00000316763	ensembl	human	known	69_37n	silent	105	20.45	27	SNP	0.985	A
ZFYVE19	84936	genome.wustl.edu	37	15	41099876	41099876	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr15:41099876G>T	ENST00000355341.4	+	1	590	c.89G>T	c.(88-90)gGc>gTc	p.G30V	ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.G30V|ZFYVE19_ENST00000336455.5_Intron|DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000563530.1_3'UTR	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	30					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTAGGTCGCGGCGGGACAGTG	0.701																																						dbGAP											0													14.0	18.0	17.0					15																	41099876		2017	4163	6180	-	-	-	SO:0001583	missense	0			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.89G>T	15.37:g.41099876G>T	ENSP00000347498:p.Gly30Val		B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.G30V	ENST00000355341.4	37	c.89	CCDS42025.1	15	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061117	0.36373	.	.	ENSG00000166140	ENST00000355341;ENST00000299173	T;T	0.39406	1.12;1.08	4.45	0.204	0.15199	.	1.710450	0.03379	N	0.200113	T	0.21674	0.0522	N	0.08118	0	0.09310	N	1	B;B	0.28636	0.218;0.035	B;B	0.21708	0.036;0.011	T	0.18618	-1.0331	10	0.59425	D	0.04	.	2.4002	0.04400	0.0968:0.1725:0.402:0.3287	.	30;30	Q96K21-3;Q96K21	.;ZFY19_HUMAN	V	30	ENSP00000347498:G30V;ENSP00000299173:G30V	ENSP00000299173:G30V	G	+	2	0	ZFYVE19	38887168	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.455000	0.06762	0.052000	0.16007	-0.182000	0.12963	GGC	ZFYVE19	-	NULL	ENSG00000166140		0.701	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE19	HGNC	protein_coding	OTTHUMT00000418996.1	31	0.00	0	G	NM_032850		41099876	41099876	+1	no_errors	ENST00000355341	ensembl	human	known	69_37n	missense	51	18.75	12	SNP	0.000	T
ZNF331	55422	genome.wustl.edu	37	19	54080627	54080627	+	Nonsense_Mutation	SNP	C	C	G	rs201448146		TCGA-BH-A1EY-01A-11D-A13L-09	TCGA-BH-A1EY-11B-21D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7c035023-8ea9-4504-8f03-9573745cb6ef	278795b3-a369-43fb-9d82-4d6d3b92ade3	g.chr19:54080627C>G	ENST00000253144.9	+	7	2146	c.813C>G	c.(811-813)taC>taG	p.Y271*	ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Nonsense_Mutation_p.Y271*|ZNF331_ENST00000513999.1_Nonsense_Mutation_p.Y271*|ZNF331_ENST00000511154.1_Nonsense_Mutation_p.Y271*|ZNF331_ENST00000511593.2_Nonsense_Mutation_p.Y271*|ZNF331_ENST00000411977.2_Nonsense_Mutation_p.Y271*|ZNF331_ENST00000449416.1_Nonsense_Mutation_p.Y271*	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGAAGCCTTACGAGTGTAAAG	0.423			T	?	follicular thyroid adenoma																																	dbGAP		Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													59.0	64.0	62.0					19																	54080627		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.813C>G	19.37:g.54080627C>G	ENSP00000253144:p.Tyr271*		Q96GJ4	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.Y271*	ENST00000253144.9	37	c.813	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718051	0.89205	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	.	.	.	3.68	-5.28	0.02755	.	0.000000	0.31976	N	0.006767	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6997	0.57024	0.0:0.1595:0.0:0.8405	.	.	.	.	X	271	.	ENSP00000253144:Y271X	Y	+	3	2	ZNF331	58772439	0.000000	0.05858	0.631000	0.29282	0.977000	0.68977	-2.274000	0.01163	-1.056000	0.03205	-0.253000	0.11424	TAC	ZNF331	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130844		0.423	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	HGNC	protein_coding	OTTHUMT00000371366.1	39	0.00	0	C	NM_018555		54080627	54080627	+1	no_errors	ENST00000253144	ensembl	human	known	69_37n	nonsense	41	24.07	13	SNP	0.010	G
