#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
AHNAK	79026	genome.wustl.edu	37	11	62298678	62298678	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr11:62298678C>T	ENST00000378024.4	-	5	3485	c.3211G>A	c.(3211-3213)Gat>Aat	p.D1071N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1071					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTCAACATCTGGCAAAGAC	0.458																																						dbGAP											0													121.0	118.0	119.0					11																	62298678		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3211G>A	11.37:g.62298678C>T	ENSP00000367263:p.Asp1071Asn		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1071N	ENST00000378024.4	37	c.3211	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	c	14.09	2.432005	0.43122	.	.	ENSG00000124942	ENST00000378024	T	0.01323	5.01	4.76	4.76	0.60689	.	0.290655	0.33364	N	0.004996	T	0.11793	0.0287	M	0.92555	3.32	0.32325	N	0.561938	D	0.76494	0.999	D	0.83275	0.996	T	0.14476	-1.0471	10	0.37606	T	0.19	-16.777	15.5826	0.76455	0.0:1.0:0.0:0.0	.	1071	Q09666	AHNK_HUMAN	N	1071	ENSP00000367263:D1071N	ENSP00000367263:D1071N	D	-	1	0	AHNAK	62055254	0.486000	0.25980	1.000000	0.80357	0.152000	0.21847	1.483000	0.35497	2.201000	0.70794	0.555000	0.69702	GAT	AHNAK	-	NULL	ENSG00000124942		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	26	0.00	0	C	NM_024060		62298678	62298678	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	23	37.84	14	SNP	1.000	T
ATP10D	57205	genome.wustl.edu	37	4	47514627	47514627	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr4:47514627G>T	ENST00000273859.3	+	2	339	c.70G>T	c.(70-72)Gat>Tat	p.D24Y	ATP10D_ENST00000504445.1_Missense_Mutation_p.D24Y	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	24					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAGGGATGATGATTCAGGGCC	0.527																																						dbGAP											0													110.0	103.0	105.0					4																	47514627		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.70G>T	4.37:g.47514627G>T	ENSP00000273859:p.Asp24Tyr		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D24Y	ENST00000273859.3	37	c.70	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	1.152	-0.646390	0.03531	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.38560	1.13;4.0	5.1	1.41	0.22369	.	0.363530	0.29722	N	0.011378	T	0.25568	0.0622	L	0.42245	1.32	0.09310	N	1	B;B	0.29301	0.187;0.241	B;B	0.29077	0.032;0.098	T	0.29150	-1.0021	10	0.02654	T	1	-3.8974	6.6045	0.22718	0.392:0.0:0.608:0.0	.	24;24	Q9P241;Q6PEW3	AT10D_HUMAN;.	Y	24	ENSP00000273859:D24Y;ENSP00000420909:D24Y	ENSP00000273859:D24Y	D	+	1	0	ATP10D	47209384	0.492000	0.26027	0.000000	0.03702	0.005000	0.04900	0.601000	0.24119	0.268000	0.21939	0.557000	0.71058	GAT	ATP10D	-	NULL	ENSG00000145246		0.527	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	40	0.00	0	G	NM_020453		47514627	47514627	+1	no_errors	ENST00000273859	ensembl	human	known	69_37n	missense	96	14.29	16	SNP	0.000	T
BCL10	8915	genome.wustl.edu	37	1	85736385	85736385	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr1:85736385G>C	ENST00000370580.1	-	2	999	c.262C>G	c.(262-264)Cga>Gga	p.R88G		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	88	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GTTTTTTCTCGCCGAATAGAT	0.348			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	dbGAP		Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	0													109.0	111.0	110.0					1																	85736385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.262C>G	1.37:g.85736385G>C	ENSP00000359612:p.Arg88Gly		Q5VUF1	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.R88G	ENST00000370580.1	37	c.262	CCDS704.1	1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386753	0.61956	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	T	0.21361	2.01	5.99	1.74	0.24563	DEATH-like (2);Caspase Recruitment (1);	0.196217	0.45126	D	0.000395	T	0.17746	0.0426	L	0.40543	1.245	0.27684	N	0.946356	D	0.69078	0.997	D	0.66602	0.945	T	0.05115	-1.0905	10	0.56958	D	0.05	-9.3011	10.4257	0.44375	0.0608:0.0:0.4928:0.4463	.	88	O95999	BCL10_HUMAN	G	88	ENSP00000359612:R88G	ENSP00000271015:R88G	R	-	1	2	BCL10	85508973	0.627000	0.27129	0.867000	0.34043	0.999000	0.98932	0.740000	0.26188	0.334000	0.23590	0.655000	0.94253	CGA	BCL10	-	pfam_CARD,superfamily_DEATH-like	ENSG00000142867		0.348	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL10	HGNC	protein_coding	OTTHUMT00000027612.1	88	0.00	0	G	NM_003921		85736385	85736385	-1	no_errors	ENST00000271015	ensembl	human	known	69_37n	missense	85	34.11	44	SNP	0.406	C
C3orf20	84077	genome.wustl.edu	37	3	14803016	14803016	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr3:14803016G>A	ENST00000253697.3	+	15	2841	c.2389G>A	c.(2389-2391)Gtt>Att	p.V797I	C3orf20_ENST00000412910.1_Missense_Mutation_p.V675I|C3orf20_ENST00000435614.1_Missense_Mutation_p.V675I	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	797						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGGGGGCCGTGTTTTGAATGG	0.493																																						dbGAP											0													78.0	81.0	80.0					3																	14803016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2389G>A	3.37:g.14803016G>A	ENSP00000253697:p.Val797Ile		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.V797I	ENST00000253697.3	37	c.2389	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585614	0.28268	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08008	3.42;3.14;3.14	4.64	2.81	0.32909	.	0.158269	0.29660	N	0.011538	T	0.07818	0.0196	L	0.48174	1.505	0.21220	N	0.999754	B;B	0.17465	0.022;0.022	B;B	0.25140	0.035;0.058	T	0.26710	-1.0095	10	0.31617	T	0.26	-8.9656	6.0835	0.19954	0.2949:0.0:0.705:0.0	.	675;797	Q8ND61-2;Q8ND61	.;CC020_HUMAN	I	797;675;675	ENSP00000253697:V797I;ENSP00000402933:V675I;ENSP00000396081:V675I	ENSP00000253697:V797I	V	+	1	0	C3orf20	14778020	0.102000	0.21896	0.677000	0.29947	0.956000	0.61745	0.201000	0.17276	1.068000	0.40764	0.591000	0.81541	GTT	C3orf20	-	NULL	ENSG00000131379		0.493	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	62	0.00	0	G	NM_032137		14803016	14803016	+1	no_errors	ENST00000253697	ensembl	human	known	69_37n	missense	46	25.40	16	SNP	0.617	A
CCNF	899	genome.wustl.edu	37	16	2493715	2493715	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr16:2493715G>C	ENST00000397066.4	+	9	931	c.843G>C	c.(841-843)gaG>gaC	p.E281D		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	281					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTTCCAGTGAGATCGTCTGCC	0.498																																						dbGAP											0													127.0	107.0	114.0					16																	2493715		2198	4300	6498	-	-	-	SO:0001583	missense	0			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.843G>C	16.37:g.2493715G>C	ENSP00000380256:p.Glu281Asp		B2R8H3|Q96EG9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like	p.E281D	ENST00000397066.4	37	c.843	CCDS10467.1	16	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875321	0.33162	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.10763	2.84	5.51	3.18	0.36537	Cyclin-like (1);	0.143686	0.64402	D	0.000008	T	0.08582	0.0213	L	0.41027	1.25	0.29430	N	0.859912	B	0.17465	0.022	B	0.22601	0.04	T	0.09465	-1.0673	10	0.39692	T	0.17	-19.4729	5.3485	0.16022	0.1894:0.1939:0.6167:0.0	.	281	P41002	CCNF_HUMAN	D	281;196	ENSP00000380256:E281D	ENSP00000293968:E196D	E	+	3	2	CCNF	2433716	0.016000	0.18221	0.034000	0.17996	0.126000	0.20510	0.128000	0.15810	1.315000	0.45114	0.561000	0.74099	GAG	CCNF	-	superfamily_Cyclin-like	ENSG00000162063		0.498	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	32	0.00	0	G	NM_001761		2493715	2493715	+1	no_errors	ENST00000397066	ensembl	human	known	69_37n	missense	43	20.37	11	SNP	0.294	C
CDK11A	728642	genome.wustl.edu	37	1	1635354	1635354	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr1:1635354C>A	ENST00000378633.1	-	17	1908	c.1829G>T	c.(1828-1830)tGg>tTg	p.W610L	RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000495016.1_5'UTR|CDK11A_ENST00000358779.5_Missense_Mutation_p.W597L|CDK11A_ENST00000404249.3_Missense_Mutation_p.W607L|CDK11A_ENST00000378638.2_Missense_Mutation_p.W573L|CDK11A_ENST00000356200.3_Missense_Mutation_p.W573L|CDK11A_ENST00000357760.2_Missense_Mutation_p.W606L			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	610	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCCCACTGACCACATGTCCAC	0.587																																					Pancreas(186;965 2119 30274 40311 50569)	dbGAP											0													67.0	72.0	70.0					1																	1635354		2018	4189	6207	-	-	-	SO:0001583	missense	0			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1829G>T	1.37:g.1635354C>A	ENSP00000367900:p.Trp610Leu		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.W607L	ENST00000378633.1	37	c.1820		1	.	.	.	.	.	.	.	.	.	.	-	16.75	3.210655	0.58343	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630	T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	2.28	2.28	0.28536	.	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	H	0.99042	4.41	0.80722	D	1	D;D;D	0.89917	0.981;0.981;1.0	D;D;D	0.97110	0.954;0.954;1.0	D	0.94101	0.7362	10	0.87932	D	0	.	11.4697	0.50261	0.0:1.0:0.0:0.0	.	607;597;224	Q9UQ88-2;Q9UQ88-4;Q9UQ88-5	.;.;.	L	573;607;606;597;610;573;573	ENSP00000348529:W573L;ENSP00000384442:W607L;ENSP00000350403:W606L;ENSP00000351629:W597L;ENSP00000367900:W610L;ENSP00000367905:W573L	ENSP00000348529:W573L	W	-	2	0	CDK11A	1625214	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	6.740000	0.74832	1.294000	0.44707	0.409000	0.27619	TGG	CDK11A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000008128		0.587	CDK11A-005	NOVEL	basic	protein_coding	CDK11A	HGNC	protein_coding	OTTHUMT00000001735.1	43	0.00	0	C	NM_024011		1635354	1635354	-1	no_errors	ENST00000404249	ensembl	human	known	69_37n	missense	39	41.79	28	SNP	1.000	A
CDK19	23097	genome.wustl.edu	37	6	110944513	110944513	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr6:110944513C>G	ENST00000368911.3	-	9	1092	c.913G>C	c.(913-915)Gac>Cac	p.D305H	CDK19_ENST00000323817.3_Missense_Mutation_p.D245H|CDK19_ENST00000413605.2_Missense_Mutation_p.D181H	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ACTTTGCTGTCAGGCTTGACC	0.453																																						dbGAP											0													232.0	184.0	200.0					6																	110944513		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.913G>C	6.37:g.110944513C>G	ENSP00000357907:p.Asp305His		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D305H	ENST00000368911.3	37	c.913	CCDS5085.1	6	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031070	0.93575	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	T;T;T;T	0.64803	0.85;0.85;0.85;-0.12	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.041872	0.85682	D	0.000000	T	0.76212	0.3956	M	0.73217	2.22	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71184	0.964;0.972	T	0.76838	-0.2811	10	0.72032	D	0.01	-1.2383	20.2821	0.98520	0.0:1.0:0.0:0.0	.	181;305	B4DUB1;Q9BWU1	.;CDK19_HUMAN	H	305;245;244;181;245	ENSP00000357907:D305H;ENSP00000317665:D245H;ENSP00000410604:D181H;ENSP00000415621:D245H	ENSP00000317665:D245H	D	-	1	0	CDK19	111051206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.398000	0.79919	2.786000	0.95864	0.563000	0.77884	GAC	CDK19	-	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	ENSG00000155111		0.453	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	45	0.00	0	C	NM_015076		110944513	110944513	-1	no_errors	ENST00000368911	ensembl	human	known	69_37n	missense	133	14.74	23	SNP	1.000	G
COG1	9382	genome.wustl.edu	37	17	71193052	71193052	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr17:71193052C>G	ENST00000299886.4	+	3	654	c.574C>G	c.(574-576)Cat>Gat	p.H192D	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	192					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AACTATTCTGCATGAAAGCAA	0.463																																						dbGAP											0													70.0	71.0	70.0					17																	71193052		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.574C>G	17.37:g.71193052C>G	ENSP00000299886:p.His192Asp		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	pfam_Vps51	p.H192D	ENST00000299886.4	37	c.574	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	C	7.684	0.689574	0.14973	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.22134	1.97;1.97	5.4	4.43	0.53597	.	0.418550	0.26532	N	0.023849	T	0.14184	0.0343	L	0.29908	0.895	0.32517	N	0.536728	B;B;B	0.32302	0.363;0.087;0.363	B;B;B	0.24701	0.055;0.048;0.055	T	0.12372	-1.0550	10	0.19147	T	0.46	-5.4472	13.7085	0.62654	0.0:0.9256:0.0:0.0744	.	192;192;192	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	D	192	ENSP00000400111:H192D;ENSP00000299886:H192D	ENSP00000299886:H192D	H	+	1	0	COG1	68704647	1.000000	0.71417	0.937000	0.37676	0.414000	0.31173	1.849000	0.39318	1.282000	0.44496	0.655000	0.94253	CAT	COG1	-	NULL	ENSG00000166685		0.463	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	45	0.00	0	C			71193052	71193052	+1	no_errors	ENST00000299886	ensembl	human	known	69_37n	missense	73	51.63	79	SNP	0.999	G
CPXM1	56265	genome.wustl.edu	37	20	2777256	2777256	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr20:2777256C>T	ENST00000380605.2	-	8	1026	c.962G>A	c.(961-963)cGc>cAc	p.R321H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	321					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCTGTAGATGCGGGTGATGTT	0.572																																						dbGAP											0													193.0	176.0	182.0					20																	2777256		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.962G>A	20.37:g.2777256C>T	ENSP00000369979:p.Arg321His		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom	p.R321H	ENST00000380605.2	37	c.962	CCDS13033.1	20	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532843	0.64972	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.12465	2.68	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (1);	0.050468	0.85682	D	0.000000	T	0.17831	0.0428	L	0.59912	1.85	0.58432	D	0.999993	P;P	0.52316	0.952;0.905	B;B	0.40702	0.338;0.141	T	0.00972	-1.1495	10	0.66056	D	0.02	-25.9265	16.7686	0.85531	0.0:1.0:0.0:0.0	.	321;321	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	H	321;17	ENSP00000369979:R321H	ENSP00000369979:R321H	R	-	2	0	CPXM1	2725256	0.999000	0.42202	0.996000	0.52242	0.994000	0.84299	5.922000	0.70036	2.825000	0.97269	0.655000	0.94253	CGC	CPXM1	-	pfam_Peptidase_M14	ENSG00000088882		0.572	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2	93	0.00	0	C	NM_019609		2777256	2777256	-1	no_errors	ENST00000380605	ensembl	human	known	69_37n	missense	171	14.00	28	SNP	1.000	T
CTAG2	30848	genome.wustl.edu	37	X	153881598	153881598	+	Silent	SNP	C	C	T			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chrX:153881598C>T	ENST00000247306.4	-	1	255	c.192G>A	c.(190-192)ccG>ccA	p.P64P	CTAG2_ENST00000369585.3_Silent_p.P64P	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	64	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCGCCATGCGGACCCCGCG	0.726																																						dbGAP											0													18.0	19.0	19.0					X																	153881598		2179	4272	6451	-	-	-	SO:0001819	synonymous_variant	0			AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.192G>A	X.37:g.153881598C>T			O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	pfam_EKC/KEOPS_Pcc1	p.P64	ENST00000247306.4	37	c.192	CCDS14759.1	X																																																																																			CTAG2	-	NULL	ENSG00000126890		0.726	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	CTAG2	HGNC	protein_coding	OTTHUMT00000061176.1	27	0.00	0	C	NM_020994		153881598	153881598	-1	no_errors	ENST00000369585	ensembl	human	known	69_37n	silent	27	24.32	9	SNP	0.000	T
DDX56	54606	genome.wustl.edu	37	7	44612192	44612192	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr7:44612192C>G	ENST00000258772.5	-	4	641	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	DDX56_ENST00000431640.1_Missense_Mutation_p.E179Q|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	179	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTCTTGAGCTCTTCTTCAAAG	0.517																																						dbGAP											0													127.0	134.0	132.0					7																	44612192		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.535G>C	7.37:g.44612192C>G	ENSP00000258772:p.Glu179Gln		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E179Q	ENST00000258772.5	37	c.535	CCDS5492.1	7	.	.	.	.	.	.	.	.	.	.	.	25.0	4.588368	0.86851	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.14640	2.49;2.49	5.48	5.48	0.80851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.153841	0.56097	D	0.000033	T	0.19967	0.0480	N	0.12569	0.235	0.58432	D	0.99999	P;P	0.44877	0.845;0.728	P;P	0.59012	0.85;0.653	T	0.06092	-1.0846	10	0.54805	T	0.06	-16.3652	17.2396	0.87009	0.0:1.0:0.0:0.0	.	179;179	C9JV95;Q9NY93	.;DDX56_HUMAN	Q	179	ENSP00000258772:E179Q;ENSP00000393488:E179Q	ENSP00000258772:E179Q	E	-	1	0	DDX56	44578717	1.000000	0.71417	0.520000	0.27837	0.881000	0.50899	6.407000	0.73280	2.746000	0.94184	0.655000	0.94253	GAG	DDX56	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000136271		0.517	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX56	HGNC	protein_coding	OTTHUMT00000251291.1	45	0.00	0	C	NM_019082		44612192	44612192	-1	no_errors	ENST00000258772	ensembl	human	known	69_37n	missense	69	23.91	22	SNP	0.988	G
DNAH17	8632	genome.wustl.edu	37	17	76567116	76567116	+	Splice_Site	SNP	C	C	G			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr17:76567116C>G	ENST00000585328.1	-	6	957		c.e6-1		DNAH17_ENST00000389840.5_Splice_Site	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCTTCAGCCCTGCACGGAAC	0.552																																						dbGAP											0													43.0	28.0	33.0					17																	76567116		2202	4296	6498	-	-	-	SO:0001630	splice_region_variant	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.833-1G>C	17.37:g.76567116C>G			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Splice_Site	SNP	-	e5-1	ENST00000585328.1	37	c.833-1		17	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768680	0.49680	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.831	0.63380	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH17	74078711	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	4.782000	0.62396	2.244000	0.73946	0.655000	0.94253	.	DNAH17	-	-	ENSG00000187775		0.552	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	29	0.00	0	C	NM_173628	Intron	76567116	76567116	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	splice_site	39	15.22	7	SNP	1.000	G
ENAM	10117	genome.wustl.edu	37	4	71508643	71508643	+	Silent	SNP	T	T	C			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr4:71508643T>C	ENST00000396073.3	+	9	1781	c.1500T>C	c.(1498-1500)gaT>gaC	p.D500D	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	500					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAAGAGGAGATTCCAGAAAAG	0.378																																						dbGAP											0													42.0	43.0	43.0					4																	71508643		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1500T>C	4.37:g.71508643T>C			Q17RI5|Q9H3D1	Silent	SNP	NULL	p.D500	ENST00000396073.3	37	c.1500	CCDS3544.2	4																																																																																			ENAM	-	NULL	ENSG00000132464		0.378	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	15	0.00	0	T	NM_031889		71508643	71508643	+1	no_errors	ENST00000396073	ensembl	human	known	69_37n	silent	22	35.29	12	SNP	0.726	C
FAM65C	140876	genome.wustl.edu	37	20	49236628	49236628	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr20:49236628G>T	ENST00000327979.2	-	3	563	c.152C>A	c.(151-153)gCa>gAa	p.A51E	FAM65C_ENST00000535356.1_Missense_Mutation_p.A55E|FAM65C_ENST00000045083.2_Missense_Mutation_p.A51E			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	51										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGGATTTTGCAGGCATTCG	0.557																																						dbGAP											0													107.0	95.0	99.0					20																	49236628		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.152C>A	20.37:g.49236628G>T	ENSP00000332663:p.Ala51Glu		Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.A55E	ENST00000327979.2	37	c.164	CCDS13431.2	20	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621651	0.28889	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.02395	4.31;4.31;4.31	3.87	-0.989	0.10242	.	0.818248	0.10596	N	0.656257	T	0.05456	0.0144	L	0.55481	1.735	0.09310	N	1	D;D	0.53151	0.958;0.958	P;P	0.51229	0.563;0.663	T	0.37641	-0.9697	10	0.41790	T	0.15	-3.9779	6.9438	0.24508	0.6749:0.0:0.3251:0.0	.	55;51	F5H0X2;Q96MK2	.;FA65C_HUMAN	E	51;51;55	ENSP00000332663:A51E;ENSP00000045083:A51E;ENSP00000439802:A55E	ENSP00000045083:A51E	A	-	2	0	FAM65C	48670035	0.000000	0.05858	0.001000	0.08648	0.094000	0.18550	-0.371000	0.07513	-0.026000	0.13895	-0.367000	0.07326	GCA	FAM65C	-	NULL	ENSG00000042062		0.557	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1	32	0.00	0	G			49236628	49236628	-1	no_errors	ENST00000535356	ensembl	human	known	69_37n	missense	66	13.16	10	SNP	0.000	T
GNAO1	2775	genome.wustl.edu	37	16	56388909	56388909	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr16:56388909G>A	ENST00000262493.6	+	8	1855	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N	RP11-441F2.5_ENST00000606772.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	337					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)	p.D337H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GGTGGTGTTCGACGCCGTCAC	0.473																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											164.0	127.0	139.0					16																	56388909		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.1009G>A	16.37:g.56388909G>A	ENSP00000262493:p.Asp337Asn		P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.D337N	ENST00000262493.6	37	c.1009	CCDS10756.1	16	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427412	0.83667	.	.	ENSG00000087258	ENST00000262493	D	0.88201	-2.35	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.86522	0.5953	L	0.45698	1.435	0.80722	D	1	B	0.26935	0.164	B	0.21708	0.036	D	0.84225	0.0463	10	0.54805	T	0.06	.	18.8129	0.92065	0.0:0.0:1.0:0.0	.	337	P09471	GNAO_HUMAN	N	337	ENSP00000262493:D337N	ENSP00000262493:D337N	D	+	1	0	GNAO1	54946410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.954000	0.87848	2.437000	0.82529	0.655000	0.94253	GAC	GNAO1	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su	ENSG00000087258		0.473	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAO1	HGNC	protein_coding	OTTHUMT00000256981.2	42	0.00	0	G	NM_020988		56388909	56388909	+1	no_errors	ENST00000262493	ensembl	human	known	69_37n	missense	70	21.35	19	SNP	1.000	A
GON4L	54856	genome.wustl.edu	37	1	155733322	155733322	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr1:155733322C>T	ENST00000368331.1	-	22	4555	c.4507G>A	c.(4507-4509)Gaa>Aaa	p.E1503K	GON4L_ENST00000437809.1_Missense_Mutation_p.E1503K|GON4L_ENST00000271883.5_Missense_Mutation_p.E1503K|GON4L_ENST00000471341.1_5'Flank	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1503	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGCGCCTTTCAGATGCCAGC	0.453																																						dbGAP											0													43.0	40.0	41.0					1																	155733322		1713	3812	5525	-	-	-	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4507G>A	1.37:g.155733322C>T	ENSP00000357315:p.Glu1503Lys		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1503K	ENST00000368331.1	37	c.4507		1	.	.	.	.	.	.	.	.	.	.	C	34	5.369443	0.95900	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.33438	1.41;1.41;1.41	4.78	4.78	0.61160	.	0.057867	0.64402	D	0.000004	T	0.44891	0.1315	L	0.59436	1.845	0.46521	D	0.999084	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.81914	0.98;0.989;0.995	T	0.37220	-0.9715	10	0.52906	T	0.07	.	17.5879	0.87987	0.0:1.0:0.0:0.0	.	699;1503;1503	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	K	1503	ENSP00000396117:E1503K;ENSP00000357315:E1503K;ENSP00000271883:E1503K	ENSP00000271883:E1503K	E	-	1	0	GON4L	153999946	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.082000	0.64450	2.482000	0.83794	0.561000	0.74099	GAA	GON4L	-	NULL	ENSG00000116580		0.453	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		89	0.00	0	C	NM_032292		155733322	155733322	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	266	12.21	37	SNP	1.000	T
GSG1L	146395	genome.wustl.edu	37	16	27974518	27974518	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr16:27974518T>A	ENST00000447459.2	-	2	440	c.356A>T	c.(355-357)aAa>aTa	p.K119I	GSG1L_ENST00000395724.3_Missense_Mutation_p.K119I|GSG1L_ENST00000380898.2_5'UTR	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	119					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GCTGCGACATTTTTCACCTTT	0.547																																						dbGAP											0													82.0	88.0	86.0					16																	27974518		2003	4164	6167	-	-	-	SO:0001583	missense	0			AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.356A>T	16.37:g.27974518T>A	ENSP00000394954:p.Lys119Ile		Q7Z6F8|Q8TB81	Missense_Mutation	SNP	pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin	p.K119I	ENST00000447459.2	37	c.356	CCDS45450.1	16	.	.	.	.	.	.	.	.	.	.	T	16.66	3.183694	0.57800	.	.	ENSG00000169181	ENST00000447459;ENST00000395724	T;T	0.36340	1.26;1.26	4.68	-8.95	0.00765	.	0.346876	0.27402	U	0.019525	T	0.29223	0.0727	L	0.46819	1.47	0.80722	D	1	P;P	0.46457	0.878;0.5	B;B	0.42882	0.401;0.221	T	0.55438	-0.8141	10	0.66056	D	0.02	-2.7385	18.0778	0.89433	0.0:0.0:0.7609:0.2391	.	119;119	Q6UXU4-3;Q6UXU4	.;GSG1L_HUMAN	I	119	ENSP00000394954:K119I;ENSP00000379074:K119I	ENSP00000379074:K119I	K	-	2	0	GSG1L	27882019	0.881000	0.30235	0.517000	0.27799	0.975000	0.68041	-0.504000	0.06375	-1.336000	0.02238	0.377000	0.23210	AAA	GSG1L	-	pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin	ENSG00000169181		0.547	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG1L	HGNC	protein_coding	OTTHUMT00000433832.2	35	0.00	0	T	NM_144675		27974518	27974518	-1	no_errors	ENST00000447459	ensembl	human	known	69_37n	missense	86	16.50	17	SNP	0.735	A
HEATR5B	54497	genome.wustl.edu	37	2	37229509	37229509	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr2:37229509G>A	ENST00000233099.5	-	32	5352	c.5257C>T	c.(5257-5259)Cgt>Tgt	p.R1753C	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1753						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCCACCAAACGAGCACTTTCT	0.428																																						dbGAP											0													186.0	151.0	163.0					2																	37229509		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5257C>T	2.37:g.37229509G>A	ENSP00000233099:p.Arg1753Cys		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1753C	ENST00000233099.5	37	c.5257	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795244	0.90453	.	.	ENSG00000008869	ENST00000233099	T	0.66280	-0.2	5.43	5.43	0.79202	Armadillo-type fold (1);	0.050836	0.85682	D	0.000000	T	0.73682	0.3618	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.61800	0.894;0.894	T	0.73792	-0.3871	10	0.56958	D	0.05	-12.7331	19.4356	0.94792	0.0:0.0:1.0:0.0	.	1753;1753	Q9P2D3;B9EK47	HTR5B_HUMAN;.	C	1753	ENSP00000233099:R1753C	ENSP00000233099:R1753C	R	-	1	0	HEATR5B	37083013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.013000	0.64023	2.826000	0.97356	0.655000	0.94253	CGT	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	34	0.00	0	G	NM_019024		37229509	37229509	-1	no_errors	ENST00000233099	ensembl	human	known	69_37n	missense	60	15.49	11	SNP	1.000	A
IGF2R	3482	genome.wustl.edu	37	6	160510276	160510277	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr6:160510276_160510277delTT	ENST00000356956.1	+	43	6606_6607	c.6458_6459delTT	c.(6457-6459)attfs	p.I2153fs		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2153					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTCGGAGATATTTATTTTAAGT	0.485																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6458_6459delTT	6.37:g.160510276_160510277delTT	ENSP00000349437:p.Ile2153fs		Q7Z7G9|Q96PT5	Frame_Shift_Del	DEL	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.Y2154fs	ENST00000356956.1	37	c.6458_6459	CCDS5273.1	6																																																																																			IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.485	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	30	0.00	0	TT	NM_000876		160510276	160510277	+1	no_errors	ENST00000356956	ensembl	human	known	69_37n	frame_shift_del	28	44.44	24	DEL	0.910:1.000	-
INTS1	26173	genome.wustl.edu	37	7	1529306	1529306	+	Silent	SNP	C	C	T	rs542331846		TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr7:1529306C>T	ENST00000404767.3	-	17	2263	c.2178G>A	c.(2176-2178)ccG>ccA	p.P726P	INTS1_ENST00000389470.4_Silent_p.P854P	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	726					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGGCGAGGTTCGGAGGCTGGT	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15891	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2178G>A	7.37:g.1529306C>T			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.P854	ENST00000404767.3	37	c.2562	CCDS47526.1	7																																																																																			INTS1	-	NULL	ENSG00000164880		0.682	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	19	0.00	0	C			1529306	1529306	-1	no_errors	ENST00000389470	ensembl	human	known	69_37n	silent	22	26.67	8	SNP	0.237	T
KIAA1522	57648	genome.wustl.edu	37	1	33238473	33238473	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr1:33238473G>C	ENST00000373480.1	+	7	3196	c.3093G>C	c.(3091-3093)caG>caC	p.Q1031H	KIAA1522_ENST00000294521.3_Missense_Mutation_p.Q139H|KIAA1522_ENST00000373481.3_Missense_Mutation_p.Q1042H|YARS_ENST00000469100.1_5'Flank|KIAA1522_ENST00000401073.2_Missense_Mutation_p.Q1090H	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	1031										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGACTCACAGAAAGAGCTGG	0.557											OREG0013333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													78.0	78.0	78.0					1																	33238473		1974	4155	6129	-	-	-	SO:0001583	missense	0			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.3093G>C	1.37:g.33238473G>C	ENSP00000362579:p.Gln1031His	838	B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	NULL	p.Q1090H	ENST00000373480.1	37	c.3270	CCDS55588.1	1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243752	0.39697	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000294521;ENST00000373480	T;T;T;T	0.32023	2.57;2.57;1.47;2.6	5.84	3.9	0.45041	.	0.850619	0.10106	N	0.715299	T	0.44582	0.1300	L	0.40543	1.245	0.29831	N	0.829989	B;D;D;D	0.61080	0.32;0.989;0.969;0.969	B;P;P;P	0.58172	0.264;0.834;0.742;0.742	T	0.46148	-0.9212	10	0.87932	D	0	-3.691	15.0846	0.72142	0.0:0.2689:0.7311:0.0	.	139;1042;1031;1090	B4DQU8;Q9P206-3;Q9P206;Q9P206-2	.;.;K1522_HUMAN;.	H	1090;1042;139;1031	ENSP00000383851:Q1090H;ENSP00000362580:Q1042H;ENSP00000294521:Q139H;ENSP00000362579:Q1031H	ENSP00000294521:Q139H	Q	+	3	2	KIAA1522	33011060	1.000000	0.71417	0.982000	0.44146	0.706000	0.40770	2.503000	0.45407	0.878000	0.35920	0.650000	0.86243	CAG	KIAA1522	-	NULL	ENSG00000162522		0.557	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1522	HGNC	protein_coding	OTTHUMT00000022130.1	38	0.00	0	G			33238473	33238473	+1	no_errors	ENST00000401073	ensembl	human	known	69_37n	missense	50	33.33	25	SNP	0.904	C
KIRREL2	84063	genome.wustl.edu	37	19	36351484	36351484	+	Silent	SNP	C	C	T			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr19:36351484C>T	ENST00000360202.5	+	7	1041	c.843C>T	c.(841-843)gaC>gaT	p.D281D	KIRREL2_ENST00000347900.6_Silent_p.D231D|KIRREL2_ENST00000592409.1_Silent_p.D281D|KIRREL2_ENST00000262625.7_Silent_p.D281D|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	281	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGTGGCAGACGCCTCGTTCC	0.662																																						dbGAP											0													58.0	62.0	61.0					19																	36351484		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.843C>T	19.37:g.36351484C>T			C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D281	ENST00000360202.5	37	c.843	CCDS12481.1	19																																																																																			KIRREL2	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000126259		0.662	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL2	HGNC	protein_coding	OTTHUMT00000452561.1	26	0.00	0	C	NM_032123		36351484	36351484	+1	no_errors	ENST00000360202	ensembl	human	known	69_37n	silent	38	28.30	15	SNP	0.998	T
KRT78	196374	genome.wustl.edu	37	12	53233561	53233561	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr12:53233561C>T	ENST00000304620.4	-	7	1318	c.1255G>A	c.(1255-1257)Ggc>Agc	p.G419S	KRT78_ENST00000359499.4_Missense_Mutation_p.G309S	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	419	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACTCCTCGCCCTCCAGCAGC	0.587																																						dbGAP											0													62.0	55.0	58.0					12																	53233561		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1255G>A	12.37:g.53233561C>T	ENSP00000306261:p.Gly419Ser		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G419S	ENST00000304620.4	37	c.1255	CCDS8840.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.24|16.24	3.068296|3.068296	0.55539|0.55539	.|.	.|.	ENSG00000170423|ENSG00000170423	ENST00000547920|ENST00000359499;ENST00000304620;ENST00000539860	.|D;D	.|0.98329	.|-4.87;-4.87	3.89|3.89	0.997|0.997	0.19851|0.19851	.|Filament (1);	.|.	.|.	.|.	.|.	D|D	0.97062|0.97062	0.9040|0.9040	M|M	0.73753|0.73753	2.245|2.245	0.29092|0.29092	N|N	0.882011|0.882011	.|P	.|0.47302	.|0.893	.|P	.|0.45753	.|0.492	D|D	0.92918|0.92918	0.6353|0.6353	5|9	.|0.39692	.|T	.|0.17	.|.	7.7258|7.7258	0.28759|0.28759	0.0:0.704:0.0:0.296|0.0:0.704:0.0:0.296	.|.	.|419	.|Q8N1N4	.|K2C78_HUMAN	E|S	13|309;419;190	.|ENSP00000352479:G309S;ENSP00000306261:G419S	.|ENSP00000306261:G419S	G|G	-|-	2|1	0|0	KRT78|KRT78	51519828|51519828	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.941000|0.941000	0.58515|0.58515	2.522000|2.522000	0.45572|0.45572	0.084000|0.084000	0.17077|0.17077	-0.448000|-0.448000	0.05591|0.05591	GGG|GGC	KRT78	-	pfam_F	ENSG00000170423		0.587	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT78	HGNC	protein_coding	OTTHUMT00000406380.1	31	0.00	0	C	NM_173352		53233561	53233561	-1	no_errors	ENST00000304620	ensembl	human	known	69_37n	missense	45	13.46	7	SNP	1.000	T
KRTAP4-7	100132476	genome.wustl.edu	37	17	39240791	39240791	+	Silent	SNP	C	C	T	rs553572799	byFrequency	TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr17:39240791C>T	ENST00000391417.4	+	1	333	c.333C>T	c.(331-333)cgC>cgT	p.R111R		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	136	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cctgctgccgccccagctgct	0.662																																						dbGAP											2	Unknown(1)|Deletion - In frame(1)	NS(2)																																								-	-	-	SO:0001819	synonymous_variant	0			AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.333C>T	17.37:g.39240791C>T			A0AVM6|A8MQ08|A8MTL4	Silent	SNP	pfam_Keratin-assoc	p.R111	ENST00000391417.4	37	c.333	CCDS45673.1	17																																																																																			KRTAP4-7	-	NULL	ENSG00000240871		0.662	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	HGNC	protein_coding	OTTHUMT00000257686.1	32	0.00	0	C			39240791	39240791	+1	no_errors	ENST00000391417	ensembl	human	known	69_37n	silent	21	18.52	5	SNP	0.000	T
MBD5	55777	genome.wustl.edu	37	2	149247274	149247274	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr2:149247274C>T	ENST00000407073.1	+	12	4371	c.3374C>T	c.(3373-3375)gCc>gTc	p.A1125V	MBD5_ENST00000404807.1_Missense_Mutation_p.A1358V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1125					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCCATGAGTGCCTTCACTGCC	0.512																																						dbGAP											0													110.0	107.0	108.0					2																	149247274		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3374C>T	2.37:g.149247274C>T	ENSP00000386049:p.Ala1125Val		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.A1125V	ENST00000407073.1	37	c.3374	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144386	0.57044	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.21361	2.01;2.01	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000009	T	0.35856	0.0946	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	D;D	0.83275	0.99;0.996	T	0.16188	-1.0411	10	0.87932	D	0	-5.0109	19.4137	0.94687	0.0:1.0:0.0:0.0	.	1358;1125	E9PHH0;Q9P267	.;MBD5_HUMAN	V	1125;1358	ENSP00000386049:A1125V;ENSP00000384672:A1358V	ENSP00000384672:A1358V	A	+	2	0	MBD5	148963744	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.972000	0.76110	2.826000	0.97356	0.563000	0.77884	GCC	MBD5	-	NULL	ENSG00000204406		0.512	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	56	0.00	0	C			149247274	149247274	+1	no_errors	ENST00000407073	ensembl	human	known	69_37n	missense	72	25.00	24	SNP	1.000	T
MIR381HG	378881	genome.wustl.edu	37	14	101509354	101509354	+	lincRNA	SNP	G	G	C			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr14:101509354G>C	ENST00000553692.1	+	0	0				MIR300_ENST00000401138.1_RNA|MIR1185-2_ENST00000408687.1_RNA|MIR1185-1_ENST00000408598.1_RNA|MIR654_ENST00000385199.1_RNA|MIR381_ENST00000362150.1_RNA|MIR376A1_ENST00000584362.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		ATGTTCACTTGATTAATGGCG	0.502																																						dbGAP											0													102.0	93.0	96.0					14																	101509354		1568	3582	5150	-	-	-			0			AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101509354G>C				RNA	SNP	-	NULL	ENST00000553692.1	37	NULL		14																																																																																			MIR1185-1	-	-	ENSG00000221525		0.502	MIR381HG-001	KNOWN	basic	lincRNA	MIR1185-1	HGNC	lincRNA	OTTHUMT00000414538.1	73	0.00	0	G			101509354	101509354	+1	no_errors	ENST00000408598	ensembl	human	known	69_37n	rna	81	31.36	37	SNP	0.342	C
KMT2D	8085	genome.wustl.edu	37	12	49437197	49437197	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr12:49437197C>G	ENST00000301067.7	-	24	5481	c.5482G>C	c.(5482-5484)Gat>Cat	p.D1828H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1828					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCTGCAATATCTGGACCATCA	0.562											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													170.0	173.0	172.0					12																	49437197		2080	4212	6292	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5482G>C	12.37:g.49437197C>G	ENSP00000301067:p.Asp1828His	962	O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D1828H	ENST00000301067.7	37	c.5482	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388804	0.25118	.	.	ENSG00000167548	ENST00000301067	T	0.79749	-1.3	5.61	5.61	0.85477	.	0.187295	0.26359	N	0.024825	T	0.73009	0.3532	L	0.29908	0.895	0.30345	N	0.785307	P	0.49635	0.926	P	0.44647	0.456	T	0.75926	-0.3145	10	0.87932	D	0	.	10.6124	0.45429	0.0:0.913:0.0:0.087	.	1828	O14686	MLL2_HUMAN	H	1828	ENSP00000301067:D1828H	ENSP00000301067:D1828H	D	-	1	0	MLL2	47723464	0.313000	0.24554	0.988000	0.46212	0.995000	0.86356	2.154000	0.42291	2.631000	0.89168	0.655000	0.94253	GAT	MLL2	-	NULL	ENSG00000167548		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	26	0.00	0	C			49437197	49437197	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	69	12.66	10	SNP	0.990	G
MTHFD1L	25902	genome.wustl.edu	37	6	151208992	151208992	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr6:151208992G>T	ENST00000367321.3	+	7	929	c.655G>T	c.(655-657)Gat>Tat	p.D219Y	MTHFD1L_ENST00000367307.4_Missense_Mutation_p.D219Y	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	219	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGTCAACCTAGATGGAAAGAA	0.393																																						dbGAP											0													104.0	118.0	113.0					6																	151208992		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.655G>T	6.37:g.151208992G>T	ENSP00000356290:p.Asp219Tyr		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.D219Y	ENST00000367321.3	37	c.655	CCDS5228.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.11|13.11	2.138132|2.138132	0.37728|0.37728	.|.	.|.	ENSG00000120254|ENSG00000120254	ENST00000367321;ENST00000367307;ENST00000423867;ENST00000443074;ENST00000425276|ENST00000367308	T;T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34;0.34|.	5.25|5.25	4.15|4.15	0.48705|0.48705	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);|.	0.467347|.	0.25369|.	N|.	0.031171|.	T|.	0.30198|.	0.0757|.	L|L	0.36672|0.36672	1.1|1.1	0.37548|0.37548	D|D	0.918577|0.918577	P;P;P|.	0.49783|.	0.655;0.655;0.928|.	B;B;P|.	0.51193|.	0.255;0.185;0.662|.	T|.	0.14309|.	-1.0477|.	10|.	0.59425|.	D|.	0.04|.	.|.	7.0137|7.0137	0.24877|0.24877	0.1104:0.1693:0.7203:0.0|0.1104:0.1693:0.7203:0.0	.|.	220;219;219|.	B7ZM99;Q6UB35;Q6UB35-2|.	.;C1TM_HUMAN;.|.	Y|Y	219;219;109;64;64|179	ENSP00000356290:D219Y;ENSP00000356276:D219Y;ENSP00000400776:D109Y;ENSP00000415039:D64Y;ENSP00000414412:D64Y|.	ENSP00000356276:D219Y|.	D|X	+|+	1|3	0|2	MTHFD1L|MTHFD1L	151250685|151250685	1.000000|1.000000	0.71417|0.71417	0.884000|0.884000	0.34674|0.34674	0.911000|0.911000	0.54048|0.54048	2.366000|2.366000	0.44204|0.44204	1.317000|1.317000	0.45149|0.45149	0.650000|0.650000	0.86243|0.86243	GAT|TAG	MTHFD1L	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase	ENSG00000120254		0.393	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	74	0.00	0	G	NM_015440		151208992	151208992	+1	no_errors	ENST00000367321	ensembl	human	known	69_37n	missense	96	20.00	24	SNP	0.921	T
N4BP2	55728	genome.wustl.edu	37	4	40122051	40122051	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr4:40122051T>C	ENST00000261435.6	+	9	2736	c.2320T>C	c.(2320-2322)Tcg>Ccg	p.S774P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	774					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAAAAGCAAATCGACTTTGGA	0.378																																						dbGAP											0													47.0	51.0	49.0					4																	40122051		2199	4298	6497	-	-	-	SO:0001583	missense	0			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2320T>C	4.37:g.40122051T>C	ENSP00000261435:p.Ser774Pro		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.S774P	ENST00000261435.6	37	c.2320	CCDS3457.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.74|12.74	2.029631|2.029631	0.35797|0.35797	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.23754	.|1.89	5.27|5.27	1.38|1.38	0.22167|0.22167	.|.	.|0.633204	.|0.15037	.|N	.|0.284124	T|T	0.22244|0.22244	0.0536|0.0536	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|B;B	.|0.24368	.|0.102;0.062	.|B;B	.|0.24155	.|0.051;0.023	T|T	0.19614|0.19614	-1.0300|-1.0300	5|10	.|0.37606	.|T	.|0.19	-3.1213|-3.1213	6.013|6.013	0.19586|0.19586	0.2545:0.0692:0.0:0.6763|0.2545:0.0692:0.0:0.6763	.|.	.|774;774	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	T|P	420|774;694	.|ENSP00000261435:S774P	.|ENSP00000261435:S774P	I|S	+|+	2|1	0|0	N4BP2|N4BP2	39798446|39798446	0.701000|0.701000	0.27806|0.27806	0.501000|0.501000	0.27601|0.27601	0.547000|0.547000	0.35210|0.35210	2.525000|2.525000	0.45598|0.45598	0.101000|0.101000	0.17610|0.17610	0.459000|0.459000	0.35465|0.35465	ATC|TCG	N4BP2	-	NULL	ENSG00000078177		0.378	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	17	0.00	0	T	NM_018177		40122051	40122051	+1	no_errors	ENST00000261435	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	0.215	C
OBSCN	84033	genome.wustl.edu	37	1	228451893	228451893	+	Silent	SNP	G	G	C			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr1:228451893G>C	ENST00000422127.1	+	16	4706	c.4662G>C	c.(4660-4662)ctG>ctC	p.L1554L	OBSCN_ENST00000570156.2_Silent_p.L1738L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L1554L|OBSCN_ENST00000359599.6_Silent_p.L210L|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1554	Ig-like 16.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGCCACGCTGAGCTGCGAGG	0.647																																						dbGAP											0													55.0	59.0	58.0					1																	228451893		2102	4220	6322	-	-	-	SO:0001819	synonymous_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4662G>C	1.37:g.228451893G>C			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.L1554	ENST00000422127.1	37	c.4662	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154358		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		41	0.00	0	G	NM_052843		228451893	228451893	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	silent	96	15.79	18	SNP	1.000	C
OR4C11	219429	genome.wustl.edu	37	11	55371451	55371451	+	Silent	SNP	G	G	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr11:55371451G>A	ENST00000302231.4	-	1	423	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GCTGGCTCATGATGGTTGGGT	0.458																																						dbGAP											0													89.0	73.0	79.0					11																	55371451		2177	4009	6186	-	-	-	SO:0001819	synonymous_variant	0			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.399C>T	11.37:g.55371451G>A			B9EIL4|Q8NGL8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I133	ENST00000302231.4	37	c.399	CCDS31503.1	11																																																																																			OR4C11	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172188		0.458	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C11	HGNC	protein_coding	OTTHUMT00000383268.1	16	0.00	0	G	NM_001004700		55371451	55371451	-1	no_errors	ENST00000302231	ensembl	human	known	69_37n	silent	18	35.71	10	SNP	1.000	A
OR5AN1	390195	genome.wustl.edu	37	11	59132707	59132707	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr11:59132707T>C	ENST00000313940.2	+	1	823	c.776T>C	c.(775-777)gTc>gCc	p.V259A		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						GGAATCTTTGTCTATTTGAGT	0.413																																						dbGAP											0													174.0	168.0	170.0					11																	59132707		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.776T>C	11.37:g.59132707T>C	ENSP00000320302:p.Val259Ala		B9EIS2|Q6IEV4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V259A	ENST00000313940.2	37	c.776	CCDS31559.1	11	.	.	.	.	.	.	.	.	.	.	T	18.19	3.569880	0.65765	.	.	ENSG00000176495	ENST00000313940	T	0.00036	8.86	4.51	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000240	T	0.00271	0.0008	L	0.38649	1.16	0.30430	N	0.777303	D	0.76494	0.999	D	0.85130	0.997	T	0.58148	-0.7687	10	0.87932	D	0	-34.935	8.4634	0.32942	0.0:0.0939:0.0:0.9061	.	259	Q8NGI8	O5AN1_HUMAN	A	259	ENSP00000320302:V259A	ENSP00000320302:V259A	V	+	2	0	OR5AN1	58889283	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	3.330000	0.52068	1.992000	0.58205	0.533000	0.62120	GTC	OR5AN1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176495		0.413	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AN1	HGNC	protein_coding	OTTHUMT00000394231.1	51	0.00	0	T	NM_001004729		59132707	59132707	+1	no_errors	ENST00000313940	ensembl	human	known	69_37n	missense	92	25.81	32	SNP	0.958	C
PAM	5066	genome.wustl.edu	37	5	102353039	102353039	+	Splice_Site	SNP	A	A	G			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr5:102353039A>G	ENST00000438793.3	+	21	2803	c.2333A>G	c.(2332-2334)cAc>cGc	p.H778R	PAM_ENST00000274392.9_Splice_Site_p.H681R|PAM_ENST00000304400.7_Splice_Site_p.H778R|PAM_ENST00000379787.4_Splice_Site_p.H158R|PAM_ENST00000455264.2_Splice_Site_p.H778R|PAM_ENST00000348126.2_Splice_Site_p.H671R|PAM_ENST00000346918.2_Splice_Site_p.H778R	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	778	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTTTGGCAGCACTTTGATATG	0.408																																						dbGAP											0													327.0	302.0	310.0					5																	102353039		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2332-1A>G	5.37:g.102353039A>G			A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase	p.H778R	ENST00000438793.3	37	c.2333	CCDS54885.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.84|10.84	1.463932|1.463932	0.26335|0.26335	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000379787;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000504691	T;T;T;T;T;T;T|.	0.59364|.	1.17;1.02;1.0;1.02;1.17;0.27;1.02|.	5.17|5.17	2.67|2.67	0.31697|0.31697	Six-bladed beta-propeller, TolB-like (1);|.	0.510813|.	0.22354|.	N|.	0.061178|.	T|T	0.12603|0.12603	0.0306|0.0306	N|N	0.02011|0.02011	-0.69|-0.69	0.29277|0.29277	N|N	0.870256|0.870256	B;B;B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B;B|.	0.04013|.	0.0;0.0;0.0;0.001;0.0;0.0;0.001|.	T|T	0.22487|0.22487	-1.0215|-1.0215	10|5	0.44086|.	T|.	0.13|.	.|.	7.7366|7.7366	0.28817|0.28817	0.7281:0.0:0.2719:0.0|0.7281:0.0:0.2719:0.0	.|.	681;158;778;778;778;778;671|.	F8WE90;A6NMH0;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.	.;.;AMD_HUMAN;.;.;.;.|.	R|A	778;778;671;158;778;681;778|73	ENSP00000396493:H778R;ENSP00000282992:H778R;ENSP00000314638:H671R;ENSP00000369113:H158R;ENSP00000306100:H778R;ENSP00000274392:H681R;ENSP00000403461:H778R|.	ENSP00000274392:H681R|.	H|T	+|+	2|1	0|0	PAM|PAM	102380938|102380938	0.908000|0.908000	0.30866|0.30866	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	1.016000|1.016000	0.29976|0.29976	0.948000|0.948000	0.37687|0.37687	0.533000|0.533000	0.62120|0.62120	CAC|ACT	PAM	-	pfscan_NHL_repeat_subgr	ENSG00000145730		0.408	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	83	0.00	0	A	NM_000919	Missense_Mutation	102353039	102353039	+1	no_errors	ENST00000304400	ensembl	human	known	69_37n	missense	202	17.89	44	SNP	0.967	G
PEG3	5178	genome.wustl.edu	37	19	57325285	57325285	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr19:57325285C>T	ENST00000326441.9	-	10	4888	c.4525G>A	c.(4525-4527)Gaa>Aaa	p.E1509K	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1509K|PEG3_ENST00000593695.1_Missense_Mutation_p.E1383K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1385K|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1509	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTGTGCATTCATGGCAGTCA	0.478																																						dbGAP											0													179.0	163.0	168.0					19																	57325285		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4525G>A	19.37:g.57325285C>T	ENSP00000326581:p.Glu1509Lys		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E1509K	ENST00000326441.9	37	c.4525	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114116	0.56398	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.29655	1.56;1.56	3.94	2.91	0.33838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000584	T	0.47322	0.1439	M	0.67517	2.055	.	.	.	P;D;D	0.69078	0.757;0.997;0.997	B;D;D	0.80764	0.334;0.994;0.994	T	0.58842	-0.7565	9	0.49607	T	0.09	-21.2339	7.4306	0.27126	0.0:0.8833:0.0:0.1167	.	1385;1509;1444	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	1509	ENSP00000326581:E1509K;ENSP00000403051:E1509K	ENSP00000326581:E1509K	E	-	1	0	ZIM2	62017097	0.853000	0.29707	0.018000	0.16275	0.938000	0.57974	2.398000	0.44486	1.236000	0.43740	0.585000	0.79938	GAA	PEG3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198300		0.478	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	39	0.00	0	C			57325285	57325285	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	103	18.11	23	SNP	0.031	T
PHKA2	5256	genome.wustl.edu	37	X	18949833	18949833	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chrX:18949833C>A	ENST00000379942.4	-	12	1836	c.1171G>T	c.(1171-1173)Gac>Tac	p.D391Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	391					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGAACTCGGTCTACTGTGTGA	0.498											OREG0019698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													237.0	189.0	205.0					X																	18949833		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1171G>T	X.37:g.18949833C>A	ENSP00000369274:p.Asp391Tyr	729	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.D391Y	ENST00000379942.4	37	c.1171	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	c	22.4	4.280933	0.80692	.	.	ENSG00000044446	ENST00000379942	D	0.91295	-2.82	5.28	5.28	0.74379	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.088152	0.85682	D	0.000000	D	0.95427	0.8515	M	0.85945	2.785	0.80722	D	1	D	0.54601	0.967	P	0.62491	0.903	D	0.95968	0.8967	10	0.72032	D	0.01	-24.7587	18.2663	0.90053	0.0:1.0:0.0:0.0	.	391	P46019	KPB2_HUMAN	Y	391	ENSP00000369274:D391Y	ENSP00000369274:D391Y	D	-	1	0	PHKA2	18859754	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.770000	0.85390	2.338000	0.79540	0.591000	0.81541	GAC	PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	ENSG00000044446		0.498	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	41	0.00	0	C	NM_000292		18949833	18949833	-1	no_errors	ENST00000379942	ensembl	human	known	69_37n	missense	77	14.44	13	SNP	1.000	A
PHF8	23133	genome.wustl.edu	37	X	54026388	54026388	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chrX:54026388C>T	ENST00000357988.5	-	11	1614	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	PHF8_ENST00000322659.8_Missense_Mutation_p.R383Q|PHF8_ENST00000338946.6_Missense_Mutation_p.R383Q|PHF8_ENST00000338154.6_Missense_Mutation_p.R383Q	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	419					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCTGTTCTCTCGCAAACCTAA	0.463																																						dbGAP											0													70.0	56.0	60.0					X																	54026388		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1256G>A	X.37:g.54026388C>T	ENSP00000350676:p.Arg419Gln		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.R419Q	ENST00000357988.5	37	c.1256	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.271865|5.271865	0.95429|0.95429	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282;ENST00000448003|ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659	.|T;T;T;T	.|0.53640	.|0.61;0.61;0.61;0.61	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61110|0.61110	0.2321|0.2321	L|L	0.42245|0.42245	1.32|1.32	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;P	.|0.89917	.|1.0;0.998;0.999;0.793	.|D;P;D;B	.|0.71870	.|0.975;0.873;0.94;0.024	T|T	0.56805|0.56805	-0.7918|-0.7918	5|10	.|0.33940	.|T	.|0.23	-7.2705|-7.2705	17.47|17.47	0.87643|0.87643	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|383;383;419;419	.|Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1	.|.;.;.;PHF8_HUMAN	K|Q	287;64|419;383;383;413;383	.|ENSP00000350676:R419Q;ENSP00000338868:R383Q;ENSP00000340051:R383Q;ENSP00000319473:R383Q	.|ENSP00000319473:R383Q	E|R	-|-	1|2	0|0	PHF8|PHF8	54043113|54043113	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.510000|4.510000	0.60455|0.60455	2.394000|2.394000	0.81467|0.81467	0.600000|0.600000	0.82982|0.82982	GAG|CGA	PHF8	-	NULL	ENSG00000172943		0.463	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	33	0.00	0	C	NM_015107		54026388	54026388	-1	no_errors	ENST00000357988	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	1.000	T
PLD1	5337	genome.wustl.edu	37	3	171417579	171417579	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr3:171417579C>G	ENST00000351298.4	-	12	1309	c.1183G>C	c.(1183-1185)Gag>Cag	p.E395Q	PLD1_ENST00000356327.5_Missense_Mutation_p.E395Q|PLD1_ENST00000342215.6_Missense_Mutation_p.E395Q|PLD1_ENST00000340989.4_Missense_Mutation_p.E395Q	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	395					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CGATTTCCCTCAACCACTGGG	0.363																																					NSCLC(149;2174 3517 34058)	dbGAP											0													248.0	253.0	252.0					3																	171417579		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1183G>C	3.37:g.171417579C>G	ENSP00000342793:p.Glu395Gln			Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.E395Q	ENST00000351298.4	37	c.1183	CCDS3216.1	3	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988837	0.93106	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	L	0.44542	1.39	0.80722	D	1	P;D	0.58268	0.757;0.982	B;P	0.58520	0.424;0.84	T	0.00972	-1.1495	10	0.23302	T	0.38	-30.3206	18.1752	0.89759	0.0:1.0:0.0:0.0	.	418;395	Q59EA4;Q13393	.;PLD1_HUMAN	Q	395	ENSP00000348681:E395Q;ENSP00000342793:E395Q;ENSP00000339936:E395Q;ENSP00000340326:E395Q	ENSP00000340326:E395Q	E	-	1	0	PLD1	172900273	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.281000	0.78621	2.705000	0.92388	0.650000	0.86243	GAG	PLD1	-	pirsf_PLipase_D_euk	ENSG00000075651		0.363	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	68	0.00	0	C	NM_002662		171417579	171417579	-1	no_errors	ENST00000351298	ensembl	human	known	69_37n	missense	47	41.25	33	SNP	1.000	G
RNF19B	127544	genome.wustl.edu	37	1	33429830	33429830	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr1:33429830C>G	ENST00000373456.7	-	1	456	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	RNF19B_ENST00000235150.4_Missense_Mutation_p.E153Q|RNF19B_ENST00000356990.5_Missense_Mutation_p.E153Q	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	153					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCGCTTATCTCCAGGCGCAGG	0.706																																						dbGAP											0													18.0	24.0	22.0					1																	33429830		692	1590	2282	-	-	-	SO:0001583	missense	0			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.457G>C	1.37:g.33429830C>G	ENSP00000362555:p.Glu153Gln		B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.E153Q	ENST00000373456.7	37	c.457	CCDS372.2	1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597312	0.66332	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.30182	1.55;1.56;1.54	3.27	3.27	0.37495	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	.	.	.	.	T	0.30262	0.0759	N	0.20530	0.585	0.47276	D	0.999372	B;D;B	0.58268	0.216;0.982;0.397	B;P;B	0.52793	0.234;0.709;0.135	T	0.08680	-1.0710	9	0.37606	T	0.19	.	14.6364	0.68692	0.0:1.0:0.0:0.0	.	153;153;153	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	Q	153;153;153;52	ENSP00000362555:E153Q;ENSP00000349482:E153Q;ENSP00000235150:E153Q	ENSP00000235150:E153Q	E	-	1	0	RNF19B	33202417	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.890000	0.75633	1.827000	0.53221	0.305000	0.20034	GAG	RNF19B	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000116514		0.706	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF19B	HGNC	protein_coding	OTTHUMT00000011465.3	9	0.00	0	C	NM_153341		33429830	33429830	-1	no_errors	ENST00000373456	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	1.000	G
SMARCAL1	50485	genome.wustl.edu	37	2	217279872	217279872	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr2:217279872C>G	ENST00000357276.4	+	3	775	c.445C>G	c.(445-447)Cag>Gag	p.Q149E	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.Q149E	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	149					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGGTCATGCTCAGGCTTCACC	0.498									Schimke Immuno-Osseous Dysplasia																													dbGAP											0													129.0	119.0	122.0					2																	217279872		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.445C>G	2.37:g.217279872C>G	ENSP00000349823:p.Gln149Glu		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	pfam_HARP,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q149E	ENST00000357276.4	37	c.445	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	C	3.230	-0.157613	0.06544	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	T;T;T;D	0.86366	1.98;1.98;1.4;-2.11	4.9	2.95	0.34219	.	0.962008	0.08644	N	0.915082	T	0.80899	0.4712	L	0.32530	0.975	0.09310	N	1	B	0.31581	0.329	B	0.28849	0.095	T	0.67987	-0.5528	10	0.46703	T	0.11	-7.082	10.1722	0.42917	0.0:0.764:0.1452:0.0908	.	149	Q9NZC9	SMAL1_HUMAN	E	149;149;48;13	ENSP00000349823:Q149E;ENSP00000350940:Q149E;ENSP00000392997:Q48E;ENSP00000375974:Q13E	ENSP00000349823:Q149E	Q	+	1	0	SMARCAL1	216988117	0.004000	0.15560	0.056000	0.19401	0.014000	0.08584	0.789000	0.26886	0.675000	0.31264	-0.795000	0.03280	CAG	SMARCAL1	-	NULL	ENSG00000138375		0.498	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	30	0.00	0	C			217279872	217279872	+1	no_errors	ENST00000357276	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	0.000	G
SRBD1	55133	genome.wustl.edu	37	2	45773940	45773940	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr2:45773940C>G	ENST00000263736.4	-	14	1867	c.1805G>C	c.(1804-1806)aGg>aCg	p.R602T	SRBD1_ENST00000535761.1_Missense_Mutation_p.R121T	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	602					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTCTGTTTCCCTGCAGGCAGT	0.403																																						dbGAP											0													143.0	131.0	135.0					2																	45773940		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1805G>C	2.37:g.45773940C>G	ENSP00000263736:p.Arg602Thr		Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R602T	ENST00000263736.4	37	c.1805	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928455	0.92389	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.46819	0.86;0.86	6.17	6.17	0.99709	YqgF/RNase H-like domain (2);	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	H	0.96576	3.845	0.53688	D	0.999974	D	0.89917	1.0	D	0.85130	0.997	D	0.86104	0.1558	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	602	Q8N5C6	SRBD1_HUMAN	T	602;121	ENSP00000263736:R602T;ENSP00000441272:R121T	ENSP00000263736:R602T	R	-	2	0	SRBD1	45627444	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.122000	0.77169	2.941000	0.99782	0.655000	0.94253	AGG	SRBD1	-	smart_YqgF/RNaseH-like_dom	ENSG00000068784		0.403	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	65	0.00	0	C	NM_018079		45773940	45773940	-1	no_errors	ENST00000263736	ensembl	human	known	69_37n	missense	132	35.92	74	SNP	1.000	G
SMARCAL1	50485	genome.wustl.edu	37	2	217279969	217279969	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr2:217279969C>G	ENST00000357276.4	+	3	872	c.542C>G	c.(541-543)tCt>tGt	p.S181C	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S181C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	181					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GCTCATTCCTCTGGACAGCCT	0.512									Schimke Immuno-Osseous Dysplasia																													dbGAP											0													95.0	96.0	96.0					2																	217279969		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.542C>G	2.37:g.217279969C>G	ENSP00000349823:p.Ser181Cys		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	pfam_HARP,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S181C	ENST00000357276.4	37	c.542	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638106	0.47153	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	D;D;T;D	0.87491	-2.25;-2.25;1.24;-2.26	5.23	1.24	0.21308	.	1.185640	0.05825	N	0.616550	T	0.76758	0.4032	N	0.17082	0.46	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.61860	-0.6976	10	0.46703	T	0.11	-0.0032	4.9881	0.14200	0.0:0.4788:0.3299:0.1913	.	181	Q9NZC9	SMAL1_HUMAN	C	181;181;80;45	ENSP00000349823:S181C;ENSP00000350940:S181C;ENSP00000392997:S80C;ENSP00000375974:S45C	ENSP00000349823:S181C	S	+	2	0	SMARCAL1	216988214	0.000000	0.05858	0.000000	0.03702	0.872000	0.50106	-0.644000	0.05415	0.044000	0.15775	0.591000	0.81541	TCT	SMARCAL1	-	NULL	ENSG00000138375		0.512	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	26	0.00	0	C			217279969	217279969	+1	no_errors	ENST00000357276	ensembl	human	known	69_37n	missense	21	38.24	13	SNP	0.002	G
TAF5	6877	genome.wustl.edu	37	10	105145226	105145226	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr10:105145226G>A	ENST00000369839.3	+	8	1831	c.1808G>A	c.(1807-1809)gGg>gAg	p.G603E	TAF5_ENST00000351396.4_Intron	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	603					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TTTGTGTCAGGGGGCCATGAC	0.418																																						dbGAP											0													73.0	63.0	67.0					10																	105145226		2203	4300	6503	-	-	-	SO:0001583	missense	0			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1808G>A	10.37:g.105145226G>A	ENSP00000358854:p.Gly603Glu		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G603E	ENST00000369839.3	37	c.1808	CCDS7547.1	10	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343577	0.82022	.	.	ENSG00000148835	ENST00000369839	T	0.72051	-0.62	5.41	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86623	0.5977	H	0.95224	3.64	0.80722	D	1	D	0.59357	0.985	P	0.58013	0.831	D	0.90560	0.4515	10	0.59425	D	0.04	-12.6959	15.6001	0.76616	0.0:0.0:0.8612:0.1388	.	603	Q15542	TAF5_HUMAN	E	603	ENSP00000358854:G603E	ENSP00000358854:G603E	G	+	2	0	TAF5	105135216	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.393000	0.97256	1.365000	0.46057	0.650000	0.86243	GGG	TAF5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000148835		0.418	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5	HGNC	protein_coding	OTTHUMT00000050144.1	21	0.00	0	G			105145226	105145226	+1	no_errors	ENST00000369839	ensembl	human	known	69_37n	missense	41	28.07	16	SNP	1.000	A
TAS2R10	50839	genome.wustl.edu	37	12	10978187	10978187	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr12:10978187C>A	ENST00000240619.2	-	1	770	c.682G>T	c.(682-684)Gtt>Ttt	p.V228F		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	228					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GATATCAAAACTTTCATTGCC	0.368																																						dbGAP											0													112.0	109.0	110.0					12																	10978187		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.682G>T	12.37:g.10978187C>A	ENSP00000240619:p.Val228Phe		Q3MIM9|Q6NTD9	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.V228F	ENST00000240619.2	37	c.682	CCDS8634.1	12	.	.	.	.	.	.	.	.	.	.	C	6.822	0.520728	0.13005	.	.	ENSG00000121318	ENST00000240619	T	0.48522	0.81	4.7	-1.09	0.09904	.	1.061420	0.07460	N	0.900410	T	0.35508	0.0934	L	0.32530	0.975	0.21950	N	0.999458	B	0.11235	0.004	B	0.15052	0.012	T	0.32241	-0.9914	10	0.40728	T	0.16	.	8.9653	0.35872	0.0:0.3694:0.0:0.6306	.	228	Q9NYW0	T2R10_HUMAN	F	228	ENSP00000240619:V228F	ENSP00000240619:V228F	V	-	1	0	TAS2R10	10869454	0.000000	0.05858	0.306000	0.25113	0.486000	0.33341	-1.781000	0.01774	-0.182000	0.10602	-0.225000	0.12378	GTT	TAS2R10	-	pfam_TAS2_rcpt	ENSG00000121318		0.368	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R10	HGNC	protein_coding	OTTHUMT00000399934.1	20	0.00	0	C			10978187	10978187	-1	no_errors	ENST00000240619	ensembl	human	known	69_37n	missense	37	30.19	16	SNP	0.090	A
TMCC3	57458	genome.wustl.edu	37	12	94976125	94976126	+	Frame_Shift_Del	DEL	CG	CG	-	rs141857063	byFrequency	TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr12:94976125_94976126delCG	ENST00000261226.4	-	2	398_399	c.267_268delCG	c.(265-270)cgcgatfs	p.D90fs	TMCC3_ENST00000551457.1_Frame_Shift_Del_p.D59fs	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	90						integral component of membrane (GO:0016021)		p.D90Y(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACATTCCCATCGCGCGATGTTT	0.45																																						dbGAP											1	Substitution - Missense(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.267_268delCG	12.37:g.94976129_94976130delCG	ENSP00000261226:p.Asp90fs		Q8IWB2	Frame_Shift_Del	DEL	pfam_Predicted_TM_coiled-coil_2	p.D90fs	ENST00000261226.4	37	c.268_267	CCDS31877.1	12																																																																																			TMCC3	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000057704		0.450	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC3	HGNC	protein_coding	OTTHUMT00000408113.1	76	0.00	0	CG	NM_020698		94976125	94976126	-1	no_errors	ENST00000261226	ensembl	human	known	69_37n	frame_shift_del	123	37.31	75	DEL	1.000:0.001	-
TP53	7157	genome.wustl.edu	37	17	7577100	7577100	+	Nonsense_Mutation	SNP	T	T	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr17:7577100T>A	ENST00000269305.4	-	8	1027	c.838A>T	c.(838-840)Aga>Tga	p.R280*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R280*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.R280*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R280*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R280*	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	CGCCGGTCTCTCCCAGGACAG	0.542		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"""	54	Substitution - Missense(20)|Deletion - In frame(8)|Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Unknown(2)	upper_aerodigestive_tract(11)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(5)|lung(5)|urinary_tract(4)|breast(4)|bone(4)|stomach(3)|ovary(3)|liver(3)|large_intestine(2)|oesophagus(2)|thymus(1)											76.0	66.0	69.0					17																	7577100		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.838A>T	17.37:g.7577100T>A	ENSP00000269305:p.Arg280*		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	Nonsense_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.R280*	ENST00000269305.4	37	c.838	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	37	6.579954	0.97680	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.0303	12.9367	0.58319	0.0:0.0:0.0:1.0	.	.	.	.	X	280;280;280;280;280;269;148	.	ENSP00000269305:R280X	R	-	1	2	TP53	7517825	0.650000	0.27331	1.000000	0.80357	0.981000	0.71138	0.781000	0.26774	2.154000	0.67381	0.379000	0.24179	AGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	37	0.00	0	T	NM_000546		7577100	7577100	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	9	82.46	47	SNP	0.998	A
TRO	7216	genome.wustl.edu	37	X	54955076	54955076	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chrX:54955076G>A	ENST00000173898.7	+	12	2031	c.1919G>A	c.(1918-1920)cGc>cAc	p.R640H	TRO_ENST00000399736.1_Missense_Mutation_p.R243H|TRO_ENST00000319167.8_Missense_Mutation_p.R640H|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Missense_Mutation_p.R640H|TRO_ENST00000420798.2_Missense_Mutation_p.R171H|TRO_ENST00000375041.2_Missense_Mutation_p.R243H	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	640	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTGCAGTACCGCGAGGCAGTG	0.512																																						dbGAP											0													50.0	54.0	52.0					X																	54955076		2099	4226	6325	-	-	-	SO:0001583	missense	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1919G>A	X.37:g.54955076G>A	ENSP00000173898:p.Arg640His		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R640H	ENST00000173898.7	37	c.1919	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235790	0.22626	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.06768	3.93;3.72;3.72;3.58;3.26;3.6	2.89	0.0946	0.14481	.	.	.	.	.	T	0.16557	0.0398	L	0.47190	1.495	0.09310	N	1	B;D;D;B	0.89917	0.016;1.0;0.993;0.065	B;D;P;B	0.64595	0.003;0.927;0.804;0.004	T	0.12372	-1.0550	9	0.87932	D	0	.	6.8784	0.24158	0.6547:0.0:0.3453:0.0	.	243;243;640;640	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	H	640;640;640;243;243;171;243	ENSP00000173898:R640H;ENSP00000318278:R640H;ENSP00000364162:R640H;ENSP00000382641:R243H;ENSP00000405126:R171H;ENSP00000364181:R243H	ENSP00000173898:R640H	R	+	2	0	TRO	54971801	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	-0.601000	0.05687	-0.103000	0.12175	0.544000	0.68410	CGC	TRO	-	pfscan_MAGE	ENSG00000067445		0.512	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	17	0.00	0	G	NM_016157		54955076	54955076	+1	no_errors	ENST00000173898	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.012	A
TTLL3	26140	genome.wustl.edu	37	3	9860595	9860595	+	Missense_Mutation	SNP	G	G	C	rs3806669	byFrequency	TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr3:9860595G>C	ENST00000547186.1	+	6	736	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000426895.4_Missense_Mutation_p.E317Q|TTLL3_ENST00000383827.1_5'UTR|TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000455274.1_5'Flank|TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000430793.1_5'Flank	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	174	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.		E -> K (in dbSNP:rs3806669).		axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AGTAGAGGAAGAGGCCTCAGG	0.537																																						dbGAP											0													158.0	164.0	162.0					3																	9860595		2060	4211	6271	-	-	-	SO:0001583	missense	0				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.520G>C	3.37:g.9860595G>C	ENSP00000446659:p.Glu174Gln		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.E317Q	ENST00000547186.1	37	c.949		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.840|7.840	0.721752|0.721752	0.15372|0.15372	.|.	.|.	ENSG00000214021|ENSG00000214021	ENST00000426895;ENST00000547186;ENST00000422738;ENST00000443148|ENST00000310252	T;T;T;T|.	0.39056|.	3.54;3.65;1.1;3.62|.	4.71|4.71	1.87|1.87	0.25490|0.25490	.|.	1.223630|.	0.06443|.	U|.	0.726335|.	T|T	0.31575|0.31575	0.0801|0.0801	.|.	.|.	.|.	0.19575|0.19575	N|N	0.999969|0.999969	B;B|.	0.22211|.	0.066;0.019|.	B;B|.	0.20384|.	0.028;0.029|.	T|T	0.21586|0.21586	-1.0241|-1.0241	9|4	0.59425|.	D|.	0.04|.	.|.	6.2212|6.2212	0.20683|0.20683	0.3208:0.0:0.6792:0.0|0.3208:0.0:0.6792:0.0	.|.	113;174|.	B4DM47;Q9Y4R7|.	.;TTLL3_HUMAN|.	Q|T	317;174;159;112|129	ENSP00000392549:E317Q;ENSP00000446659:E174Q;ENSP00000412915:E159Q;ENSP00000398097:E112Q|.	ENSP00000412915:E159Q|.	E|R	+|+	1|2	0|0	TTLL3|TTLL3	9835595|9835595	0.116000|0.116000	0.22171|0.22171	0.087000|0.087000	0.20705|0.20705	0.107000|0.107000	0.19398|0.19398	2.243000|2.243000	0.43115|0.43115	0.522000|0.522000	0.28464|0.28464	0.484000|0.484000	0.47621|0.47621	GAG|AGA	TTLL3	-	NULL	ENSG00000214021		0.537	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	HGNC	protein_coding		45	0.00	0	G	NM_001025930.2		9860595	9860595	+1	no_errors	ENST00000426895	ensembl	human	known	69_37n	missense	41	43.84	32	SNP	0.105	C
TTLL3	26140	genome.wustl.edu	37	3	9876579	9876579	+	Silent	SNP	G	G	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr3:9876579G>A	ENST00000547186.1	+	12	2127	c.1911G>A	c.(1909-1911)ctG>ctA	p.L637L	ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000426895.4_Silent_p.L780L|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000430793.1_Silent_p.L425L	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	637					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CCAGCATCCTGAAGCCAAGAA	0.612																																						dbGAP											0													78.0	80.0	80.0					3																	9876579		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1911G>A	3.37:g.9876579G>A			Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	pfam_Tub_tyr_ligase	p.L780	ENST00000547186.1	37	c.2340		3																																																																																			TTLL3	-	NULL	ENSG00000214021		0.612	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	HGNC	protein_coding		21	0.00	0	G	NM_001025930.2		9876579	9876579	+1	no_errors	ENST00000426895	ensembl	human	known	69_37n	silent	21	34.38	11	SNP	0.822	A
TTN	7273	genome.wustl.edu	37	2	179479656	179479656	+	Silent	SNP	G	G	A			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr2:179479656G>A	ENST00000591111.1	-	210	43979	c.43755C>T	c.(43753-43755)gcC>gcT	p.A14585A	TTN_ENST00000460472.2_Silent_p.A7161A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.A13658A|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.A7286A|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.A7353A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.A16226A|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14585	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACGCGGTAGGCATACCATT	0.438																																						dbGAP											0													108.0	98.0	101.0					2																	179479656		1936	4148	6084	-	-	-	SO:0001819	synonymous_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.43755C>T	2.37:g.179479656G>A			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.A13658	ENST00000591111.1	37	c.40974		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	34	0.00	0	G	NM_133378		179479656	179479656	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	68	29.90	29	SNP	1.000	A
UGT2B28	54490	genome.wustl.edu	37	4	70146552	70146552	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HK-01A-21D-A13L-09	TCGA-C8-A1HK-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	357e0b08-fa33-4f58-92b0-d7293b63c01d	4b60a302-dafb-454c-a114-c83e6df778cc	g.chr4:70146552G>C	ENST00000335568.5	+	1	336	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E112Q	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	112					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTTTCACAAGAACAAGAAAT	0.289																																						dbGAP											0													75.0	96.0	89.0					4																	70146552		2174	4281	6455	-	-	-	SO:0001583	missense	0			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.334G>C	4.37:g.70146552G>C	ENSP00000334276:p.Glu112Gln		B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E112Q	ENST00000335568.5	37	c.334	CCDS3528.1	4	.	.	.	.	.	.	.	.	.	.	-	1.393	-0.580158	0.03854	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.59364	0.27;0.27	1.6	-3.2	0.05156	.	31.544000	0.01504	U	0.017612	T	0.42494	0.1205	L	0.28400	0.85	0.09310	N	1	P;B	0.37423	0.594;0.009	B;B	0.37144	0.242;0.044	T	0.30357	-0.9981	10	0.46703	T	0.11	.	1.6298	0.02730	0.1589:0.3828:0.2549:0.2034	.	112;112	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	Q	112	ENSP00000334276:E112Q;ENSP00000427399:E112Q	ENSP00000334276:E112Q	E	+	1	0	UGT2B28	70181141	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	-0.232000	0.09055	-3.170000	0.00225	-1.109000	0.02080	GAA	UGT2B28	-	pfam_UDP_glucos_trans	ENSG00000135226		0.289	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B28	HGNC	protein_coding	OTTHUMT00000251557.2	81	0.00	0	G	NM_053039		70146552	70146552	+1	no_errors	ENST00000335568	ensembl	human	known	69_37n	missense	164	20.77	43	SNP	0.000	C
