#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
ANKRD20A4	728747	genome.wustl.edu	37	9	69390020	69390020	+	Missense_Mutation	SNP	T	T	A	rs200769647		TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr9:69390020T>A	ENST00000357336.3	+	4	855	c.574T>A	c.(574-576)Tca>Aca	p.S192T	RNU6-1193P_ENST00000459461.1_RNA	NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	192										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GAAAGCAAGTTCACATGCCGT	0.313																																						dbGAP											0													3.0	3.0	3.0					9																	69390020		1031	2307	3338	-	-	-	SO:0001583	missense	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.574T>A	9.37:g.69390020T>A	ENSP00000349891:p.Ser192Thr			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S192T	ENST00000357336.3	37	c.574	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	T	1.745	-0.490649	0.04322	.	.	ENSG00000172014	ENST00000357336	T	0.52057	0.68	2.26	-0.246	0.13022	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.19805	0.0476	N	0.03268	-0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	9	0.46703	T	0.11	.	2.3964	0.04391	0.4743:0.0:0.3053:0.2205	.	192	Q4UJ75	A20A4_HUMAN	T	192	ENSP00000349891:S192T	ENSP00000349891:S192T	S	+	1	0	ANKRD20A4	68679840	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.285000	0.08410	-0.423000	0.07394	-3.249000	0.00050	TCA	ANKRD20A4	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000172014		0.313	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	27	0.00	0	T	NM_001098805		69390020	69390020	+1	no_errors	ENST00000357336	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	0.002	A
CFHR5	81494	genome.wustl.edu	37	1	196973889	196973889	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr1:196973889C>T	ENST00000256785.4	+	9	1538	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	CFHR5_ENST00000367414.5_Missense_Mutation_p.R501C			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	477	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGTGACGTACCGTTGCCAGTC	0.443																																						dbGAP											0													133.0	126.0	128.0					1																	196973889		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1429C>T	1.37:g.196973889C>T	ENSP00000256785:p.Arg477Cys		Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R501C	ENST00000256785.4	37	c.1501	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.778126	0.31502	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65916	-0.18;-0.18	3.8	-0.349	0.12609	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.78162	0.4240	M	0.92923	3.36	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.63888	-0.6535	9	0.62326	D	0.03	.	4.1394	0.10186	0.4886:0.3847:0.0:0.1266	.	477	Q9BXR6	FHR5_HUMAN	C	501;477	ENSP00000356384:R501C;ENSP00000256785:R477C	ENSP00000256785:R477C	R	+	1	0	CFHR5	195240512	0.000000	0.05858	0.007000	0.13788	0.010000	0.07245	0.614000	0.24314	0.175000	0.19841	0.491000	0.48974	CGT	CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134389		0.443	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	41	0.00	0	C	NM_030787		196973889	196973889	+1	no_errors	ENST00000367414	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	0.006	T
FAM135B	51059	genome.wustl.edu	37	8	139164616	139164616	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr8:139164616C>T	ENST00000395297.1	-	13	2272	c.2102G>A	c.(2101-2103)cGa>cAa	p.R701Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	701										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCCCTGCTTCGGGCCTCTGA	0.552										HNSCC(54;0.14)																												dbGAP											0													46.0	46.0	46.0					8																	139164616		1915	4116	6031	-	-	-	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2102G>A	8.37:g.139164616C>T	ENSP00000378710:p.Arg701Gln		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.R701Q	ENST00000395297.1	37	c.2102	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060320	0.76074	.	.	ENSG00000147724	ENST00000395297	T	0.15487	2.42	5.65	4.77	0.60923	.	0.000000	0.64402	D	0.000001	T	0.35998	0.0951	M	0.67953	2.075	0.34158	D	0.668396	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.77004	0.989;0.989;0.886	T	0.50775	-0.8788	10	0.42905	T	0.14	-13.7347	9.2861	0.37758	0.0:0.7782:0.1466:0.0752	.	701;701;701	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	Q	701	ENSP00000378710:R701Q	ENSP00000276737:R701Q	R	-	2	0	FAM135B	139233798	0.993000	0.37304	0.180000	0.23079	0.953000	0.61014	3.446000	0.52928	1.390000	0.46547	0.655000	0.94253	CGA	FAM135B	-	NULL	ENSG00000147724		0.552	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	23	0.00	0	C	NM_015912		139164616	139164616	-1	no_errors	ENST00000395297	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	0.863	T
FST	10468	genome.wustl.edu	37	5	52781027	52781028	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr5:52781027_52781028insT	ENST00000256759.3	+	5	1305_1306	c.922_923insT	c.(922-924)ctgfs	p.L308fs	FST_ENST00000396947.3_Frame_Shift_Ins_p.L308fs	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	308	Kazal-like 3. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				AGGTGTGCTACTGGAAGTAAAG	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.923dupT	5.37:g.52781028_52781028dupT	ENSP00000256759:p.Leu308fs		B5BU94|Q9BTH0	Frame_Shift_Ins	INS	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Prot_inh_Kazal	p.E309fs	ENST00000256759.3	37	c.922_923	CCDS3959.1	5																																																																																			FST	-	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	ENSG00000134363		0.510	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FST	HGNC	protein_coding	OTTHUMT00000253906.1	30	0.00	0	-	NM_013409		52781027	52781028	+1	no_errors	ENST00000256759	ensembl	human	known	69_37n	frame_shift_ins	44	13.73	7	INS	0.993:1.000	T
IL22RA1	58985	genome.wustl.edu	37	1	24465129	24465129	+	Missense_Mutation	SNP	G	G	A	rs201599737		TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr1:24465129G>A	ENST00000270800.1	-	2	157	c.119C>T	c.(118-120)aCg>aTg	p.T40M		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	40	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GCTGTCCCACGTCAGGATGTT	0.582																																						dbGAP											0													89.0	85.0	86.0					1																	24465129		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.119C>T	1.37:g.24465129G>A	ENSP00000270800:p.Thr40Met		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.T40M	ENST00000270800.1	37	c.119	CCDS247.1	1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517842	0.64634	.	.	ENSG00000142677	ENST00000270800	T	0.74209	-0.82	4.96	2.88	0.33553	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.515159	0.20841	N	0.084719	T	0.79839	0.4515	M	0.75777	2.31	0.35197	D	0.773949	D	0.89917	1.0	D	0.64410	0.925	T	0.80708	-0.1262	10	0.33141	T	0.24	-21.6501	4.7564	0.13086	0.1122:0.0:0.6574:0.2304	.	40	Q8N6P7	I22R1_HUMAN	M	40	ENSP00000270800:T40M	ENSP00000270800:T40M	T	-	2	0	IL22RA1	24337716	0.284000	0.24287	1.000000	0.80357	0.955000	0.61496	0.352000	0.20113	2.292000	0.77174	0.585000	0.79938	ACG	IL22RA1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142677		0.582	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL22RA1	HGNC	protein_coding	OTTHUMT00000008412.1	42	0.00	0	G			24465129	24465129	-1	no_errors	ENST00000270800	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	0.992	A
INTS6	26512	genome.wustl.edu	37	13	51950260	51950260	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr13:51950260A>T	ENST00000311234.4	-	13	2125	c.1653T>A	c.(1651-1653)aaT>aaA	p.N551K	INTS6_ENST00000490542.1_Missense_Mutation_p.N235K|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000425000.1_Missense_Mutation_p.N119K|INTS6_ENST00000398119.2_Missense_Mutation_p.N538K|INTS6_ENST00000497989.1_Missense_Mutation_p.N373K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	551					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GATCCAAAAGATTTCGTCTTG	0.343																																						dbGAP											0													89.0	86.0	87.0					13																	51950260		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1653T>A	13.37:g.51950260A>T	ENSP00000310260:p.Asn551Lys		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.N551K	ENST00000311234.4	37	c.1653	CCDS9428.1	13	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603481	0.46423	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.48	4.26	0.50523	.	0.043107	0.85682	D	0.000000	T	0.23370	0.0565	L	0.40543	1.245	0.80722	D	1	P	0.38020	0.615	B	0.35607	0.206	T	0.02431	-1.1160	10	0.23891	T	0.37	-17.7863	10.9034	0.47065	0.9252:0.0:0.0748:0.0	.	551	Q9UL03	INT6_HUMAN	K	551;538;373;119;235	ENSP00000310260:N551K;ENSP00000381187:N538K;ENSP00000419871:N373K;ENSP00000406915:N119K;ENSP00000419984:N235K	ENSP00000310260:N551K	N	-	3	2	INTS6	50848261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.795000	0.47861	0.873000	0.35799	0.528000	0.53228	AAT	INTS6	-	NULL	ENSG00000102786		0.343	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	52	0.00	0	A	NM_012141		51950260	51950260	-1	no_errors	ENST00000311234	ensembl	human	known	69_37n	missense	14	46.15	12	SNP	1.000	T
MYH1	4619	genome.wustl.edu	37	17	10415212	10415212	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr17:10415212G>T	ENST00000226207.5	-	14	1454	c.1360C>A	c.(1360-1362)Cag>Aag	p.Q454K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	454	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGCCTGGGCTGCTTGGTGTCC	0.473																																						dbGAP											0													223.0	209.0	214.0					17																	10415212		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1360C>A	17.37:g.10415212G>T	ENSP00000226207:p.Gln454Lys		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q454K	ENST00000226207.5	37	c.1360	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.065386	0.93898	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.70749	-0.51	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.000000	0.41194	U	0.000936	T	0.73055	0.3538	L	0.49778	1.585	0.58432	D	0.999998	B	0.24823	0.112	B	0.35073	0.195	T	0.69971	-0.5000	10	0.66056	D	0.02	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	454	P12882	MYH1_HUMAN	K	454	ENSP00000226207:Q454K	ENSP00000226207:Q454K	Q	-	1	0	MYH1	10355937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.703000	0.98714	2.861000	0.98227	0.655000	0.94253	CAG	MYH1	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000109061		0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	125	0.00	0	G	NM_005963		10415212	10415212	-1	no_errors	ENST00000226207	ensembl	human	known	69_37n	missense	61	21.79	17	SNP	1.000	T
PCDHB15	56121	genome.wustl.edu	37	5	140626431	140626431	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr5:140626431C>A	ENST00000231173.3	+	1	1285	c.1285C>A	c.(1285-1287)Cca>Aca	p.P429T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P429K(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGGGGACTCCAAGGCTGAA	0.552																																						dbGAP											1	Substitution - Missense(1)	lung(1)											104.0	98.0	100.0					5																	140626431		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1285C>A	5.37:g.140626431C>A	ENSP00000231173:p.Pro429Thr		Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P429T	ENST00000231173.3	37	c.1285	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299162	0.40694	.	.	ENSG00000113248	ENST00000231173	T	0.56275	0.47	4.52	4.52	0.55395	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85779	0.5776	H	0.99820	4.81	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	D	0.93002	0.6424	9	0.87932	D	0	.	17.282	0.87131	0.0:1.0:0.0:0.0	.	429	Q9Y5E8	PCDBF_HUMAN	T	429	ENSP00000231173:P429T	ENSP00000231173:P429T	P	+	1	0	PCDHB15	140606615	1.000000	0.71417	0.142000	0.22268	0.012000	0.07955	4.937000	0.63513	2.251000	0.74343	0.485000	0.47835	CCA	PCDHB15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113248		0.552	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	50	0.00	0	C	NM_018935		140626431	140626431	+1	no_errors	ENST00000231173	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.998	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	45	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	1.000	A
SCGB1D4	404552	genome.wustl.edu	37	11	62065069	62065069	+	Silent	SNP	G	G	A			TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr11:62065069G>A	ENST00000358585.1	-	2	170	c.117C>T	c.(115-117)gaC>gaT	p.D39D		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	39						extracellular region (GO:0005576)				lung(1)|prostate(1)	2						TTACCGCAGCGTCACTTAAGA	0.433																																						dbGAP											0													127.0	132.0	130.0					11																	62065069		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AY236538	CCDS31583.1	11q12.3	2011-12-14			ENSG00000197745	ENSG00000197745		"""Secretoglobins"""	31748	protein-coding gene	gene with protein product		615062				15034037, 15340161, 22155607	Standard	NM_206998		Approved	IIS	uc001ntd.1	Q6XE38	OTTHUMG00000167510	ENST00000358585.1:c.117C>T	11.37:g.62065069G>A			A1L4Q8	Silent	SNP	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin	p.D39	ENST00000358585.1	37	c.117	CCDS31583.1	11																																																																																			SCGB1D4	-	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin	ENSG00000197745		0.433	SCGB1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1D4	HGNC	protein_coding	OTTHUMT00000394862.1	50	0.00	0	G	NM_206998		62065069	62065069	-1	no_errors	ENST00000358585	ensembl	human	known	69_37n	silent	42	10.64	5	SNP	0.000	A
TP53	7157	genome.wustl.edu	37	17	7578278	7578279	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr17:7578278_7578279insA	ENST00000269305.4	-	6	759_760	c.570_571insT	c.(568-573)cctcctfs	p.P191fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.P191fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.P191fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P191fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P191fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P191fs|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	191	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P191del(3)|p.P191fs*56(2)|p.P191S(2)|p.G187fs*16(2)|p.P191fs*15(1)|p.D186_P191delDGLAPP(1)|p.P191fs*57(1)|p.P191fs*18(1)|p.P190P(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.P191T(1)|p.P191_Q192delPQ(1)|p.A189fs*53(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)	AGATGCTGAGGAGGGGCCAGAC	0.55		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"""	44	Deletion - In frame(16)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(6)|Substitution - Missense(3)|Insertion - Frameshift(2)|Complex - frameshift(1)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(9)|biliary_tract(5)|skin(5)|bone(5)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(3)|breast(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|ovary(2)|liver(2)|stomach(1)|urinary_tract(1)|lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.571dupT	17.37:g.7578279_7578279dupA	ENSP00000269305:p.Pro191fs		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	Frame_Shift_Ins	INS	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.P190fs	ENST00000269305.4	37	c.571_570	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.550	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	51	0.00	0	-	NM_000546		7578278	7578279	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_ins	18	25.00	6	INS	0.997:0.935	A
TPTE2	93492	genome.wustl.edu	37	13	19999927	19999927	+	Intron	SNP	T	T	G	rs4544103	byFrequency	TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr13:19999927T>G	ENST00000400230.2	-	18	1440				TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2						phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		acaggtctcctggatggctcc	0.517													t|||	2601	0.519369	0.1309	0.5893	5008	,	,		14640	0.6746		0.7087	False		,,,				2504	0.6401					dbGAP											0													63.0	34.0	43.0					13																	19999927		1564	3549	5113	-	-	-	SO:0001627	intron_variant	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1395+637A>C	13.37:g.19999927T>G			A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ	p.Q319P	ENST00000400230.2	37	c.956	CCDS45014.1	13																																																																																			TPTE2	-	NULL	ENSG00000132958		0.517	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding		33	0.00	0	T	NM_199254		19999927	19999927	-1	no_errors	ENST00000462409	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	0.137	G
U2AF1	7307	genome.wustl.edu	37	21	44514780	44514780	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr21:44514780C>T	ENST00000291552.4	-	6	559	c.467G>A	c.(466-468)cGt>cAt	p.R156H	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.R156H|U2AF1_ENST00000459639.1_Missense_Mutation_p.R83H|U2AF1_ENST00000398137.1_Missense_Mutation_p.R83H	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	156					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						CTCATACTGACGGCAGCAGGC	0.557			Mis		"""CLL, MDS"""																																	dbGAP		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	0													83.0	60.0	68.0					21																	44514780		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.467G>A	21.37:g.44514780C>T	ENSP00000291552:p.Arg156His		Q701P4|Q71RF1	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	p.R156H	ENST00000291552.4	37	c.467	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.226613	0.95173	.	.	ENSG00000160201	ENST00000459639;ENST00000380276;ENST00000291552;ENST00000398137	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.01	5.01	0.66863	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	M	0.92169	3.28	0.80722	D	1	P;P	0.51653	0.798;0.947	B;P	0.48063	0.234;0.565	T	0.76165	-0.3059	10	0.87932	D	0	-18.8654	18.6733	0.91519	0.0:1.0:0.0:0.0	.	156;156	Q01081;Q701P4	U2AF1_HUMAN;.	H	83;156;156;83	ENSP00000418705:R83H;ENSP00000369629:R156H;ENSP00000291552:R156H;ENSP00000381205:R83H	ENSP00000291552:R156H	R	-	2	0	U2AF1	43387849	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.993000	0.76245	2.476000	0.83614	0.655000	0.94253	CGT	U2AF1	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000160201		0.557	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	HGNC	protein_coding	OTTHUMT00000195541.1	14	0.00	0	C	NM_006758		44514780	44514780	-1	no_errors	ENST00000291552	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	1.000	T
ZNF207	7756	genome.wustl.edu	37	17	30690005	30690005	+	Splice_Site	SNP	T	T	C			TCGA-E2-A1IO-01A-11D-A142-09	TCGA-E2-A1IO-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	986e9b9f-ae15-4743-a150-d6ee11f3c077	f06efd07-1873-4b4b-b323-9a39e0081241	g.chr17:30690005T>C	ENST00000321233.6	+	6	776		c.e6+2		ZNF207_ENST00000342555.6_Splice_Site|ZNF207_ENST00000577908.1_Splice_Site|ZNF207_ENST00000394670.4_Splice_Site|ZNF207_ENST00000341711.6_Splice_Site|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_Splice_Site	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207						attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TGCCACCAGGTATATGTTAGA	0.348																																						dbGAP											0													92.0	92.0	92.0					17																	30690005		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.622+2T>C	17.37:g.30690005T>C			A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Splice_Site	SNP	-	e7+2	ENST00000321233.6	37	c.670+2	CCDS11271.1	17	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898694	0.72639	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6822	0.77381	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF207	27714118	1.000000	0.71417	0.993000	0.49108	0.873000	0.50193	7.422000	0.80217	2.091000	0.63221	0.533000	0.62120	.	ZNF207	-	-	ENSG00000010244		0.348	ZNF207-003	KNOWN	basic|CCDS	protein_coding	ZNF207	HGNC	protein_coding	OTTHUMT00000256251.2	37	0.00	0	T		Intron	30690005	30690005	+1	no_errors	ENST00000394670	ensembl	human	known	69_37n	splice_site	35	10.26	4	SNP	1.000	C
