#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
NCBP2L	392517	genome.wustl.edu	37	X	107037825	107037825	+	Silent	SNP	C	C	T			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chrX:107037825C>T	ENST00000509000.2	+	2	573	c.375C>T	c.(373-375)cgC>cgT	p.R125R				A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like	125					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						AGTATGGTCGCGGTAAATCTG	0.458																																							0											0													123.0	109.0	113.0					X																	107037825		876	1991	2867	SO:0001819	synonymous_variant	0					Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169	ENST00000509000.2:c.375C>T	X.37:g.107037825C>T				Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R125	ENST00000509000.2	37	c.375		X																																																																																			0	NULL		0.458	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	NCBP2L	protein_coding	OTTHUMT00000057850.2	40	81	0	0.00	0	0	C	XM_373362	0	0		107037825	1	no_errors	ENST00000509000	ensembl	human	known	74_37	silent	42	167	14.29	6.11	7	11	SNP	0	T
ACTRT2	140625	genome.wustl.edu	37	1	2939133	2939133	+	Missense_Mutation	SNP	C	C	T			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr1:2939133C>T	ENST00000378404.2	+	1	1088	c.883C>T	c.(883-885)Ctc>Ttc	p.L295F		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	295						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCAGAAGATCCTCTTTGGGGA	0.622																																							0											0													63.0	72.0	69.0					1																	2939133		2202	4299	6501	SO:0001583	missense	0			AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.883C>T	1.37:g.2939133C>T	ENSP00000367658:p.Leu295Phe		B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.L295F	ENST00000378404.2	37	c.883	CCDS45.1	1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744777	0.49151	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.97731	-4.51	4.86	4.86	0.63082	.	0.000000	0.48286	D	0.000196	D	0.98432	0.9478	M	0.72118	2.19	0.58432	D	0.999995	D	0.89917	1.0	D	0.79784	0.993	D	0.99813	1.1042	10	0.87932	D	0	.	16.5657	0.84588	0.0:1.0:0.0:0.0	.	295	Q8TDY3	ACTT2_HUMAN	F	295	ENSP00000367658:L295F	ENSP00000367658:L295F	L	+	1	0	ACTRT2	2928993	1.000000	0.71417	0.164000	0.22755	0.337000	0.28794	4.812000	0.62613	2.248000	0.74166	0.561000	0.74099	CTC	0	pfam_Actin-related,smart_Actin-related		0.622	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT2	protein_coding	OTTHUMT00000001331.1	84	107	1.16	0.00	1	0	C	NM_080431	0	0		2939133	1	no_errors	ENST00000378404	ensembl	human	known	74_37	missense	65	127	7.14	5.22	5	7	SNP	0.999	T
KCNQ4	9132	genome.wustl.edu	37	1	41283912	41283912	+	Missense_Mutation	SNP	G	G	T			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr1:41283912G>T	ENST00000347132.5	+	3	564	c.482G>T	c.(481-483)cGa>cTa	p.R161L	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R161L	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	161					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TGCCGCTACCGAGGATGGCAG	0.637																																							0											0													105.0	97.0	100.0					1																	41283912		2203	4300	6503	SO:0001583	missense	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.482G>T	1.37:g.41283912G>T	ENSP00000262916:p.Arg161Leu		O96025	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R161L	ENST00000347132.5	37	c.482	CCDS456.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.566923	0.96540	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.98876	-5.2;-5.03	4.87	4.87	0.63330	Ion transport (1);	0.072980	0.52532	D	0.000078	D	0.98466	0.9489	L	0.39514	1.22	0.80722	D	1	P;D	0.89917	0.949;1.0	P;D	0.91635	0.743;0.999	D	0.99667	1.0995	10	0.87932	D	0	-5.8624	15.5754	0.76373	0.0:0.0:1.0:0.0	.	161;161	P56696-2;P56696	.;KCNQ4_HUMAN	L	161	ENSP00000262916:R161L;ENSP00000423756:R161L	ENSP00000262916:R161L	R	+	2	0	KCNQ4	41056499	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.600000	0.98282	2.532000	0.85374	0.650000	0.86243	CGA	0	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ		0.637	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	protein_coding	OTTHUMT00000020812.1	51	43	0	0.00	0	0	G	NM_004700	0	0		41283912	1	no_errors	ENST00000347132	ensembl	human	known	74_37	missense	61	83	7.58	11.70	5	11	SNP	1	T
INTS3	65123	genome.wustl.edu	37	1	153737191	153737191	+	Missense_Mutation	SNP	C	C	T			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr1:153737191C>T	ENST00000318967.2	+	19	2519	c.1951C>T	c.(1951-1953)Cct>Tct	p.P651S	INTS3_ENST00000456435.1_Missense_Mutation_p.P445S|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.P651S|INTS3_ENST00000512605.1_Missense_Mutation_p.P445S	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	652					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGTAGGAAAGCCTCTGTACCT	0.517																																							0											0													138.0	136.0	137.0					1																	153737191		2203	4300	6503	SO:0001583	missense	0			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1951C>T	1.37:g.153737191C>T	ENSP00000318641:p.Pro651Ser		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	pfam_Int_cplx_su3	p.P651S	ENST00000318967.2	37	c.1951	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179219	0.78564	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.69358	2.11	0.58432	D	0.999997	D;D;D	0.67145	0.996;0.98;0.988	D;D;D	0.75484	0.986;0.968;0.986	T	0.74659	-0.3591	9	0.87932	D	0	.	12.9969	0.58652	0.0:1.0:0.0:0.0	.	445;652;651	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	S	651;445;651;445	.	ENSP00000318641:P651S	P	+	1	0	INTS3	152003815	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.138000	0.71717	2.418000	0.82041	0.462000	0.41574	CCT	0	NULL		0.517	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	protein_coding	OTTHUMT00000090045.2	52	185	0	1.07	0	2	C	NM_023015	0	0		153737191	1	no_errors	ENST00000318967	ensembl	human	known	74_37	missense	54	204	10	10.53	6	24	SNP	1	T
FAM177B	400823	genome.wustl.edu	37	1	222919977	222919977	+	Silent	SNP	C	C	T			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr1:222919977C>T	ENST00000445590.2	+	3	356	c.90C>T	c.(88-90)gaC>gaT	p.D30D	FAM177B_ENST00000360827.2_Silent_p.D30D	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	30										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						ATTTTGTTGACGGAGACATCA	0.413																																							0											0													75.0	69.0	71.0					1																	222919977		2203	4300	6503	SO:0001819	synonymous_variant	0			AK125494	CCDS1535.2	1q41	2008-08-08			ENSG00000197520	ENSG00000197520			34395	protein-coding gene	gene with protein product							Standard	NM_207468		Approved	RP11-452F19.2, FLJ43505	uc001hnt.3	A6PVY3	OTTHUMG00000037766	ENST00000445590.2:c.90C>T	1.37:g.222919977C>T			Q6ZUN8	Silent	SNP	NULL	p.D30	ENST00000445590.2	37	c.90	CCDS1535.2	1																																																																																			0	NULL		0.413	FAM177B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM177B	protein_coding	OTTHUMT00000092151.2	51	124	0	0.00	0	0	C	NM_207468	0	0		222919977	1	no_errors	ENST00000360827	ensembl	human	known	74_37	silent	49	143	7.55	11.73	4	19	SNP	0.998	T
IMPG1	3617	genome.wustl.edu	37	6	76640725	76640725	+	Missense_Mutation	SNP	A	A	G			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr6:76640725A>G	ENST00000369950.3	-	15	2377	c.2188T>C	c.(2188-2190)Tgt>Cgt	p.C730R	IMPG1_ENST00000369963.3_3'UTR|Y_RNA_ENST00000363170.1_RNA	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAGGGCCACAGAGGCCTGGT	0.557																																					Pancreas(37;839 1141 2599 26037)		0											0													121.0	105.0	110.0					6																	76640725		2203	4300	6503	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2188T>C	6.37:g.76640725A>G	ENSP00000358966:p.Cys730Arg			Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.C730R	ENST00000369950.3	37	c.2188	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286314	0.59867	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.61627	0.09;0.77	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000005	T	0.47395	0.1443	L	0.60067	1.865	0.80722	D	1	P	0.51240	0.943	B	0.44278	0.445	T	0.58042	-0.7706	10	0.87932	D	0	.	13.7929	0.63152	1.0:0.0:0.0:0.0	.	730	Q17R60	IMPG1_HUMAN	R	730;91	ENSP00000358966:C730R;ENSP00000358968:C91R	ENSP00000358966:C730R	C	-	1	0	IMPG1	76697445	1.000000	0.71417	0.212000	0.23672	0.010000	0.07245	8.101000	0.89546	2.084000	0.62774	0.378000	0.23410	TGT	0	NULL		0.557	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	protein_coding	OTTHUMT00000041288.1	54	67	0	0.00	0	0	A	NM_001563	0	0		76640725	-1	no_errors	ENST00000369950	ensembl	human	known	74_37	missense	40	128	9.09	7.86	4	11	SNP	0.997	G
ARID3C	138715	genome.wustl.edu	37	9	34621494	34621494	+	Silent	SNP	G	G	A			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr9:34621494G>A	ENST00000378909.2	-	7	1292	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P	DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000378913.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	400	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TGGAGGGTGGGGGTGCAGGGT	0.622																																							0											0													28.0	33.0	31.0					9																	34621494		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.1200C>T	9.37:g.34621494G>A				Silent	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P400	ENST00000378909.2	37	c.1200	CCDS35006.1	9																																																																																			0	NULL		0.622	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3C	protein_coding	OTTHUMT00000348265.1	97	21	0	0.00	0	0	G	XM_071061	0	0		34621494	-1	no_errors	ENST00000378909	ensembl	human	known	74_37	silent	89	52	7.22	10.17	7	6	SNP	0.44	A
GAS2	2620	genome.wustl.edu	37	11	22770737	22770737	+	Missense_Mutation	SNP	C	C	G			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr11:22770737C>G	ENST00000454584.2	+	6	850	c.545C>G	c.(544-546)cCt>cGt	p.P182R	GAS2_ENST00000278187.3_Missense_Mutation_p.P182R|GAS2_ENST00000433790.1_Missense_Mutation_p.P182R	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	182					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTTTCTGCCCCTTCTCCTTCA	0.393																																							0											0													106.0	107.0	106.0					11																	22770737		2203	4300	6503	SO:0001583	missense	0			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.545C>G	11.37:g.22770737C>G	ENSP00000401145:p.Pro182Arg		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.P182R	ENST00000454584.2	37	c.545	CCDS7858.1	11	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451943	0.63290	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000532398;ENST00000433790	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.86	5.86	0.93980	Calponin homology domain (2);	0.110503	0.64402	D	0.000006	T	0.35393	0.0930	L	0.36672	1.1	0.80722	D	1	P	0.37330	0.59	B	0.31751	0.135	T	0.05616	-1.0874	9	.	.	.	-12.3371	20.5632	0.99335	0.0:1.0:0.0:0.0	.	182	O43903	GAS2_HUMAN	R	182	ENSP00000401145:P182R;ENSP00000278187:P182R;ENSP00000435946:P182R;ENSP00000396708:P182R	.	P	+	2	0	GAS2	22727313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.177000	0.77650	2.937000	0.99478	0.650000	0.86243	CCT	0	superfamily_CH-domain		0.393	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	protein_coding	OTTHUMT00000387717.1	102	176	0	0.00	0	0	C	NM_177553	0	0		22770737	1	no_errors	ENST00000278187	ensembl	human	known	74_37	missense	82	320	11.7	7.49	11	26	SNP	1	G
CDC42BPB	9578	genome.wustl.edu	37	14	103410258	103410258	+	Missense_Mutation	SNP	G	G	A			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr14:103410258G>A	ENST00000361246.2	-	30	4666	c.4378C>T	c.(4378-4380)Ctc>Ttc	p.L1460F		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGCCACATGAGCTCCTGCGCG	0.562																																							0											0													44.0	36.0	39.0					14																	103410258		2203	4298	6501	SO:0001583	missense	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4378C>T	14.37:g.103410258G>A	ENSP00000355237:p.Leu1460Phe			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.L1460F	ENST00000361246.2	37	c.4378	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459653	0.84317	.	.	ENSG00000198752	ENST00000361246	T	0.06768	3.26	5.4	4.52	0.55395	Citron-like (3);	0.217647	0.41712	N	0.000826	T	0.31263	0.0791	M	0.84326	2.69	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.75020	0.985;0.985	T	0.15549	-1.0433	10	0.66056	D	0.02	.	14.7352	0.69412	0.0699:0.0:0.9301:0.0	.	1460;1460	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	F	1460	ENSP00000355237:L1460F	ENSP00000355237:L1460F	L	-	1	0	CDC42BPB	102480011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.918000	0.87506	1.426000	0.47256	-0.122000	0.15005	CTC	0	pfam_Citron,smart_Citron		0.562	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	protein_coding	OTTHUMT00000415711.1	29	64	0	0.00	0	0	G	NM_006035	0	0		103410258	-1	no_errors	ENST00000361246	ensembl	human	known	74_37	missense	25	94	7.41	8.74	2	9	SNP	1	A
TP53	7157	genome.wustl.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron	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	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)	CACTCGGATAAGATGCTGAGG	0.552		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)		0	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)											97.0	87.0	90.0					17																	7578268		2203	4300	6503	SO:0001583	missense	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.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L194R	ENST00000269305.4	37	c.581	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT	0	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	61	117	0	0.00	0	0	A	NM_000546	0	0		7578268	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	64	202	11.11	9.82	8	22	SNP	0.996	C
DNAH9	1770	genome.wustl.edu	37	17	11757406	11757406	+	Silent	SNP	C	C	A			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr17:11757406C>A	ENST00000262442.4	+	50	9662	c.9594C>A	c.(9592-9594)ccC>ccA	p.P3198P	DNAH9_ENST00000454412.2_Silent_p.P3198P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3198	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATGGCTCCCAGGGGTAGGG	0.552																																							0											0													77.0	74.0	75.0					17																	11757406		2203	4300	6503	SO:0001819	synonymous_variant	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9594C>A	17.37:g.11757406C>A			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P3198	ENST00000262442.4	37	c.9594	CCDS11160.1	17																																																																																			0	superfamily_P-loop_NTPase		0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	44	93	0	0.00	0	0	C	NM_001372	0	0		11757406	1	no_errors	ENST00000262442	ensembl	human	known	74_37	silent	29	134	16.67	8.22	6	12	SNP	0	A
NR1H2	7376	genome.wustl.edu	37	19	50881580	50881580	+	Missense_Mutation	SNP	G	G	T			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr19:50881580G>T	ENST00000253727.5	+	5	591	c.356G>T	c.(355-357)gGg>gTg	p.G119V	NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000593926.1_Missense_Mutation_p.G119V|NR1H2_ENST00000599105.1_Missense_Mutation_p.G119V|NR1H2_ENST00000598168.1_Missense_Mutation_p.G119V	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	119					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GTCCGTGGTGGGGCCAGGCGC	0.657																																							0											0													63.0	74.0	70.0					19																	50881580		2198	4297	6495	SO:0001583	missense	0			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.356G>T	19.37:g.50881580G>T	ENSP00000253727:p.Gly119Val		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.G119V	ENST00000253727.5	37	c.356	CCDS42593.1	19	.	.	.	.	.	.	.	.	.	.	G	8.305	0.820882	0.16678	.	.	ENSG00000131408	ENST00000253727;ENST00000376942	D	0.96992	-4.2	4.74	2.55	0.30701	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.323408	0.26038	N	0.026710	D	0.89283	0.6671	N	0.04669	-0.19	0.18873	N	0.999988	B;B	0.31256	0.292;0.316	B;B	0.36608	0.166;0.229	D	0.83805	0.0238	10	0.87932	D	0	.	7.0466	0.25048	0.0905:0.3414:0.5681:0.0	.	119;119	P55055;F1D8P7	NR1H2_HUMAN;.	V	119	ENSP00000253727:G119V	ENSP00000253727:G119V	G	+	2	0	NR1H2	55573392	1.000000	0.71417	0.040000	0.18447	0.129000	0.20672	4.242000	0.58714	0.700000	0.31782	-0.305000	0.09177	GGG	0	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt		0.657	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	protein_coding	OTTHUMT00000464724.2	86	55	0	0.00	0	0	G		0	0		50881580	1	no_errors	ENST00000253727	ensembl	human	known	74_37	missense	66	100	10.81	5.66	8	6	SNP	0.039	T
KIF3B	9371	genome.wustl.edu	37	20	30918006	30918006	+	Silent	SNP	T	T	C			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr20:30918006T>C	ENST00000375712.3	+	8	2198	c.2031T>C	c.(2029-2031)ggT>ggC	p.G677G	KIF3B_ENST00000418717.2_Silent_p.G303G	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	677	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACTATGAGGGTCCAGCCATTG	0.532																																							0											0													70.0	64.0	66.0					20																	30918006		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.2031T>C	20.37:g.30918006T>C			B2RMP4|B4DSR5|E1P5M5	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G677	ENST00000375712.3	37	c.2031	CCDS13200.1	20																																																																																			0	NULL		0.532	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	protein_coding	OTTHUMT00000078619.1	43	53	0	0.00	0	0	T	NM_004798	0	0		30918006	1	no_errors	ENST00000375712	ensembl	human	known	74_37	silent	31	81	8.82	5.81	3	5	SNP	0.973	C
CTBS	1486	genome.wustl.edu	37	1	85040024	85040024	+	Silent	SNP	C	C	T			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr1:85040024C>T	ENST00000370630.5	-	1	123	c.75G>A	c.(73-75)ctG>ctA	p.L25L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	25					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ccagcagcgccagcagcgcTA	0.726																																							0											0													3.0	4.0	4.0					1																	85040024		1689	3502	5191	SO:0001819	synonymous_variant	0			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.75G>A	1.37:g.85040024C>T			Q5VX50	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.L25	ENST00000370630.5	37	c.75	CCDS698.1	1																																																																																			0	NULL		0.726	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBS	protein_coding	OTTHUMT00000027457.2	10	0	9.09	0.00	1	0	C	NM_004388	0	0		85040024	-1	no_errors	ENST00000370630	ensembl	human	known	74_37	silent	12	1	20	0.00	3	0	SNP	0.006	T
CDH13	1012	genome.wustl.edu	37	16	82875716	82875717	+	Intron	DEL	TG	TG	-	rs146750065|rs555668577|rs12933953	byFrequency	TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr16:82875716_82875717delTG	ENST00000566620.1	+	2	335				CDH13_ENST00000565636.1_Intron|CDH13_ENST00000567445.1_Intron|CDH13_ENST00000446376.2_Intron|RN7SL134P_ENST00000579756.1_RNA|AC099506.1_ENST00000408468.1_RNA|CDH13_ENST00000268613.10_Intron|CDH13_ENST00000428848.3_Intron|CDH13_ENST00000431540.3_Intron	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13						adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		tatatatatatgtatatatata	0.287																																							0											0																																										SO:0001627	intron_variant	0			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.46-16250TG>-	16.37:g.82875716_82875717delTG			A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	RNA	DEL	0	NULL	ENST00000566620.1	37	NULL	CCDS58486.1	16																																																																																			0	0		0.287	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221395	protein_coding	OTTHUMT00000432917.1	10	0	9.09	0.00	1	0	TG	NM_001257	0	0		82875717	1	no_errors	ENST00000408468	ensembl	human	novel	74_37	rna	9	0	43.75	0.00	7	0	DEL	0.000:0.000	0
PAX1	5075	genome.wustl.edu	37	20	21686535	21686537	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr20:21686535_21686537delGCG	ENST00000398485.2	+	1	239_241	c.185_187delGCG	c.(184-189)cgcggc>cgc	p.G66del	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_5'Flank	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	66					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TGCCTCTCACGCGGCGGCGGCGG	0.818																																							0											0																																										SO:0001651	inframe_deletion	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.185_187delGCG	20.37:g.21686544_21686546delGCG	ENSP00000381499:p.Gly66del		B4E0D6|Q642X9|Q6NTC0|Q9Y558	In_Frame_Del	DEL	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.G66in_frame_del	ENST00000398485.2	37	c.185_187	CCDS13146.2	20																																																																																			0	NULL		0.818	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	protein_coding	OTTHUMT00000078282.3	20	15	0	0.00	0	0	GCG		0	0		21686537	1	no_errors	ENST00000398485	ensembl	human	known	74_37	in_frame_del	15	9	11.76	0.00	2	0	DEL	0.671:0.644:0.606	0
