#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
ANKRD30BL	554226	genome.wustl.edu	37	2	133015476	133015476	+	5'UTR	SNP	A	A	T	rs437455		TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr2:133015476A>T	ENST00000470729.1	-	0	66				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						CTCCAAGTAAACCCACACACA	0.692																																						dbGAP											0													63.0	62.0	62.0					2																	133015476		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.-1359T>A	2.37:g.133015476A>T			B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			ANKRD30BL	-	-	ENSG00000163046		0.692	ANKRD30BL-002	KNOWN	basic	processed_transcript	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331354.1	32	0.00	0	A	NR_027019		133015476	133015476	-1	no_errors	ENST00000470729	ensembl	human	known	69_37n	rna	99	14.41	17	SNP	0.002	T
ARID2	196528	genome.wustl.edu	37	12	46242691	46242691	+	Silent	SNP	G	G	A			TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr12:46242691G>A	ENST00000334344.6	+	13	1825	c.1653G>A	c.(1651-1653)tcG>tcA	p.S551S	ARID2_ENST00000444670.1_Silent_p.S161S|ARID2_ENST00000422737.1_Silent_p.S402S|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	551					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATACCTCTCGACTTGCAGTA	0.338			"""N, S, F"""		hepatocellular carcinoma																																	dbGAP		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													110.0	105.0	106.0					12																	46242691		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1653G>A	12.37:g.46242691G>A			Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S551	ENST00000334344.6	37	c.1653	CCDS31783.1	12																																																																																			ARID2	-	pfam_DNA-bd_RFX	ENSG00000189079		0.338	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	124	0.80	1	G	XM_350875		46242691	46242691	+1	no_errors	ENST00000334344	ensembl	human	known	69_37n	silent	139	33.81	71	SNP	1.000	A
ASPHD2	57168	genome.wustl.edu	37	22	26829801	26829801	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr22:26829801T>C	ENST00000215906.5	+	2	658	c.220T>C	c.(220-222)Tac>Cac	p.Y74H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	74					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CTTCGTGTGGTACTGTTATCA	0.637																																						dbGAP											0													95.0	79.0	85.0					22																	26829801		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.220T>C	22.37:g.26829801T>C	ENSP00000215906:p.Tyr74His		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	pfam_Asp_Arg_b-Hydrxlase	p.Y74H	ENST00000215906.5	37	c.220	CCDS13834.2	22	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957384	0.73902	.	.	ENSG00000128203	ENST00000215906	T	0.62232	0.04	4.57	4.57	0.56435	.	0.148191	0.47455	D	0.000234	T	0.66655	0.2811	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.71467	-0.4584	10	0.87932	D	0	-33.1529	13.2891	0.60260	0.0:0.0:0.0:1.0	.	74	Q6ICH7	ASPH2_HUMAN	H	74	ENSP00000215906:Y74H	ENSP00000215906:Y74H	Y	+	1	0	ASPHD2	25159801	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.122000	0.77169	1.919000	0.55581	0.460000	0.39030	TAC	ASPHD2	-	NULL	ENSG00000128203		0.637	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	HGNC	protein_coding	OTTHUMT00000320422.1	33	0.00	0	T	NM_020437		26829801	26829801	+1	no_errors	ENST00000215906	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	1.000	C
CRAMP1L	57585	genome.wustl.edu	37	16	1718050	1718050	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr16:1718050A>T	ENST00000397412.3	+	18	3289	c.3190A>T	c.(3190-3192)Agc>Tgc	p.S1064C	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S1064C|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S1061C|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S442C			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1064						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AGAGAGCTCCAGCACCCGGCT	0.622																																						dbGAP											0													44.0	45.0	44.0					16																	1718050		2084	4228	6312	-	-	-	SO:0001583	missense	0			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3190A>T	16.37:g.1718050A>T	ENSP00000380559:p.Ser1064Cys		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.S1064C	ENST00000397412.3	37	c.3190	CCDS10440.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.56|10.56	1.384660|1.384660	0.25031|0.25031	.|.	.|.	ENSG00000007545|ENSG00000007545	ENST00000415022|ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.|.	.|.	.|.	5.86|5.86	2.19|2.19	0.27852|0.27852	.|.	.|0.204155	.|0.56097	.|N	.|0.000035	T|T	0.41442|0.41442	0.1159|0.1159	L|L	0.29908|0.29908	0.895|0.895	0.30873|0.30873	N|N	0.732241|0.732241	.|D	.|0.76494	.|0.999	.|D	.|0.66716	.|0.946	T|T	0.43475|0.43475	-0.9389|-0.9389	5|9	.|0.49607	.|T	.|0.09	-18.9311|-18.9311	1.8718|1.8718	0.03210|0.03210	0.4788:0.2642:0.1302:0.1268|0.4788:0.2642:0.1302:0.1268	.|.	.|1064	.|Q96RY5	.|CRML_HUMAN	L|C	164|1064;1064;1061;442	.|.	.|ENSP00000262317:S442C	Q|S	+|+	2|1	0|0	CRAMP1L|CRAMP1L	1658051|1658051	0.949000|0.949000	0.32298|0.32298	0.764000|0.764000	0.31436|0.31436	0.194000|0.194000	0.23727|0.23727	1.946000|1.946000	0.40283|0.40283	0.081000|0.081000	0.16988|0.16988	-0.344000|-0.344000	0.07964|0.07964	CAG|AGC	CRAMP1L	-	NULL	ENSG00000007545		0.622	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	54	0.00	0	A			1718050	1718050	+1	no_errors	ENST00000293925	ensembl	human	known	69_37n	missense	122	21.29	33	SNP	0.746	T
DNM3	26052	genome.wustl.edu	37	1	172357865	172357865	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr1:172357865C>G	ENST00000355305.5	+	20	2613	c.2456C>G	c.(2455-2457)cCt>cGt	p.P819R	DNM3_ENST00000358155.4_Missense_Mutation_p.P813R|DNM3_ENST00000367731.1_Missense_Mutation_p.P809R			Q9UQ16	DYN3_HUMAN	dynamin 3	819					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGCCCATTACCTCCTTTCCCC	0.647																																						dbGAP											0													34.0	38.0	37.0					1																	172357865		1906	4113	6019	-	-	-	SO:0001583	missense	0			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2456C>G	1.37:g.172357865C>G	ENSP00000347457:p.Pro819Arg		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.P813R	ENST00000355305.5	37	c.2438		1	.	.	.	.	.	.	.	.	.	.	C	7.992	0.753413	0.15778	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000485254	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.4	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	L	0.50333	1.59	0.80722	D	1	B;B;B	0.32160	0.244;0.358;0.358	B;B;B	0.36186	0.1;0.219;0.219	T	0.11299	-1.0593	10	0.48119	T	0.1	.	13.0176	0.58766	0.0:0.9215:0.0:0.0785	.	819;809;813	Q9UQ16;Q9UQ16-2;Q9UQ16-3	DYN3_HUMAN;.;.	R	823;813;819;809;182	ENSP00000350876:P813R;ENSP00000347457:P819R;ENSP00000356705:P809R;ENSP00000429165:P182R	ENSP00000347457:P819R	P	+	2	0	DNM3	170624488	0.997000	0.39634	0.723000	0.30687	0.037000	0.13140	2.892000	0.48625	1.283000	0.44513	0.655000	0.94253	CCT	DNM3	-	NULL	ENSG00000197959		0.647	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	HGNC	protein_coding	OTTHUMT00000084531.1	40	0.00	0	C	NM_015569		172357865	172357865	+1	no_errors	ENST00000358155	ensembl	human	known	69_37n	missense	90	22.41	26	SNP	0.987	G
FAM168B	130074	genome.wustl.edu	37	2	131810522	131810522	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr2:131810522C>T	ENST00000409185.1	-	6	649	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	FAM168B_ENST00000389915.3_Missense_Mutation_p.R181Q	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	181						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						TCCTGGGGCCCGGTACGTGGG	0.592																																						dbGAP											0													23.0	28.0	27.0					2																	131810522		1983	4157	6140	-	-	-	SO:0001583	missense	0				CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.542G>A	2.37:g.131810522C>T	ENSP00000387051:p.Arg181Gln		Q2TAZ6|Q6NZ40	Missense_Mutation	SNP	NULL	p.R181Q	ENST00000409185.1	37	c.542	CCDS42755.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.966988	0.97156	.	.	ENSG00000152102	ENST00000409185;ENST00000389915	.	.	.	6.17	6.17	0.99709	.	0.056603	0.64402	D	0.000001	T	0.48943	0.1528	L	0.34521	1.04	0.80722	D	1	B	0.31318	0.319	B	0.27887	0.084	T	0.39333	-0.9619	9	0.37606	T	0.19	-0.9067	18.3732	0.90420	0.0:1.0:0.0:0.0	.	181	A1KXE4	F168B_HUMAN	Q	181	.	ENSP00000374565:R181Q	R	-	2	0	FAM168B	131526992	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.356000	0.79445	2.941000	0.99782	0.655000	0.94253	CGG	FAM168B	-	NULL	ENSG00000152102		0.592	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM168B	HGNC	protein_coding	OTTHUMT00000331299.2	25	0.00	0	C	NM_001009993		131810522	131810522	-1	no_errors	ENST00000389915	ensembl	human	known	69_37n	missense	41	46.75	36	SNP	1.000	T
FMN2	56776	genome.wustl.edu	37	1	240370946	240370946	+	Missense_Mutation	SNP	C	C	T	rs71170718|rs193049501|rs562038978	byFrequency	TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr1:240370946C>T	ENST00000319653.9	+	5	3064	c.2834C>T	c.(2833-2835)cCg>cTg	p.P945L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	945	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCTCCTCCGCCCCCTCTA	0.692																																						dbGAP											0													21.0	27.0	25.0					1																	240370946		2142	4212	6354	-	-	-	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2834C>T	1.37:g.240370946C>T	ENSP00000318884:p.Pro945Leu		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.P945L	ENST00000319653.9	37	c.2834	CCDS31069.2	1	236	0.10805860805860806	67	0.13617886178861788	32	0.08839779005524862	74	0.12937062937062938	63	0.08311345646437995	C	9.009	0.982061	0.18812	.	.	ENSG00000155816	ENST00000319653	T	0.57907	0.37	4.22	2.27	0.28462	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.00440	0.0014	M	0.75150	2.29	0.58432	P	2.9999999999752447E-6	B	0.19200	0.034	B	0.18561	0.022	T	0.08166	-1.0735	7	.	.	.	.	3.981	0.09495	0.2935:0.4931:0.1289:0.0845	.	945	Q9NZ56	FMN2_HUMAN	L	945	ENSP00000318884:P945L	.	P	+	2	0	FMN2	238437569	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.261000	0.18442	0.504000	0.28082	0.479000	0.44913	CCG	FMN2	-	pfam_Formin_homology_1,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000155816		0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	8	0.00	0	C	XM_371352		240370946	240370946	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	0.003	T
HBB	3043	genome.wustl.edu	37	11	5248212	5248212	+	Missense_Mutation	SNP	C	C	A	rs67440443	byFrequency	TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr11:5248212C>A	ENST00000335295.4	-	1	89	c.40G>T	c.(40-42)Gcc>Tcc	p.A14S	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	14			A -> D (in J-Lens; dbSNP:rs35203747).		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CCCCACAGGGCAGTAACGGCA	0.488									Sickle Cell Trait		OREG0003733	type=REGULATORY REGION|Gene=HBB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													164.0	129.0	141.0					11																	5248212		2201	4298	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.40G>T	11.37:g.5248212C>A	ENSP00000333994:p.Ala14Ser	625	A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	p.A14S	ENST00000335295.4	37	c.40	CCDS7753.1	11	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.620380	0.00828	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.87256	-2.23;-2.23	5.24	-3.5	0.04710	Globin-like (1);Globin, structural domain (1);	.	.	.	.	T	0.59851	0.2224	N	0.01742	-0.745	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.56860	-0.7909	9	0.05959	T	0.93	-0.0449	5.3144	0.15847	0.2151:0.3521:0.0:0.4328	.	14	P68871	HBB_HUMAN	S	14	ENSP00000333994:A14S;ENSP00000369671:A14S	ENSP00000333994:A14S	A	-	1	0	HBB	5204788	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.636000	0.00407	-0.522000	0.06417	-0.838000	0.03060	GCC	HBB	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin	ENSG00000244734		0.488	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBB	HGNC	protein_coding	OTTHUMT00000142977.2	116	0.85	1	C	NM_000518		5248212	5248212	-1	no_errors	ENST00000335295	ensembl	human	known	69_37n	missense	279	22.28	80	SNP	0.000	A
IL12B	3593	genome.wustl.edu	37	5	158750314	158750314	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr5:158750314A>G	ENST00000231228.2	-	3	567	c.112T>C	c.(112-114)Tat>Cat	p.Y38H		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	38	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCATCCGGATACCAATCCAAT	0.507																																						dbGAP											0													72.0	66.0	68.0					5																	158750314		2203	4300	6503	-	-	-	SO:0001583	missense	0			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.112T>C	5.37:g.158750314A>G	ENSP00000231228:p.Tyr38His			Missense_Mutation	SNP	pirsf_IL_12_beta,pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL_12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Y38H	ENST00000231228.2	37	c.112	CCDS4346.1	5	.	.	.	.	.	.	.	.	.	.	A	0.088	-1.172219	0.01646	.	.	ENSG00000113302	ENST00000231228	T	0.21932	1.98	6.02	-9.96	0.00443	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.298700	0.04877	N	0.446965	T	0.05731	0.0150	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41716	-0.9493	10	0.15066	T	0.55	-8.8417	12.5949	0.56463	0.129:0.0:0.6772:0.1937	.	38	P29460	IL12B_HUMAN	H	38	ENSP00000231228:Y38H	ENSP00000231228:Y38H	Y	-	1	0	IL12B	158682892	0.001000	0.12720	0.005000	0.12908	0.249000	0.25844	-0.768000	0.04715	-1.360000	0.02172	0.533000	0.62120	TAT	IL12B	-	pirsf_IL_12_beta,pfscan_Ig-like	ENSG00000113302		0.507	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12B	HGNC	protein_coding	OTTHUMT00000252652.2	40	0.00	0	A	NM_002187		158750314	158750314	-1	no_errors	ENST00000231228	ensembl	human	known	69_37n	missense	97	10.91	12	SNP	0.006	G
PITX2	5308	genome.wustl.edu	37	4	111539459	111539459	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr4:111539459G>A	ENST00000354925.2	-	7	2481	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000306732.3_Missense_Mutation_p.T266M|PITX2_ENST00000394598.2_Missense_Mutation_p.T259M|PITX2_ENST00000355080.5_Missense_Mutation_p.T213M|RP11-380D23.2_ENST00000503456.1_lincRNA	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	259					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 negative regulation of transcription (GO:0001078)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ACAGGCAGGCGTCGGCACCGC	0.592																																						dbGAP											0													46.0	49.0	48.0					4																	111539459		2203	4300	6503	-	-	-	SO:0001583	missense	0			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.776C>T	4.37:g.111539459G>A	ENSP00000347004:p.Thr259Met		A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.T266M	ENST00000354925.2	37	c.797	CCDS3692.1	4	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134805	0.77662	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.93076	-2.83;-2.95;-3.1;-2.95;-3.16	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.93871	0.8039	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;0.989;0.996	P;D;P;P	0.80764	0.715;0.994;0.63;0.886	D	0.93106	0.6512	10	0.33141	T	0.24	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	213;213;259;266	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	M	266;259;213;259;259	ENSP00000304169:T266M;ENSP00000378097:T259M;ENSP00000347192:T213M;ENSP00000347004:T259M;ENSP00000421454:T259M	ENSP00000304169:T266M	T	-	2	0	PITX2	111758908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.689000	0.91719	0.655000	0.94253	ACG	PITX2	-	pirsf_Homeobox_Pitx/unc30	ENSG00000164093		0.592	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2	39	0.00	0	G			111539459	111539459	-1	no_errors	ENST00000306732	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	1.000	A
PXDNL	137902	genome.wustl.edu	37	8	52321348	52321348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr8:52321348G>A	ENST00000356297.4	-	17	2936	c.2836C>T	c.(2836-2838)Cga>Tga	p.R946*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.R946*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	946					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCTCCTGTCGCGCGCACTCG	0.647																																						dbGAP											0													14.0	16.0	16.0					8																	52321348		1961	4141	6102	-	-	-	SO:0001587	stop_gained	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2836C>T	8.37:g.52321348G>A	ENSP00000348645:p.Arg946*		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.R946*	ENST00000356297.4	37	c.2836	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.117129	0.97296	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	.	.	.	3.8	-7.59	0.01308	.	1.153240	0.07191	U	0.855649	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.349	0.26680	0.0:0.2922:0.3431:0.3647	.	.	.	.	X	946	.	ENSP00000348645:R946X	R	-	1	2	PXDNL	52483901	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.873000	0.04214	-1.741000	0.01344	-0.176000	0.13171	CGA	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.647	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	19	0.00	0	G	NM_144651		52321348	52321348	-1	no_errors	ENST00000356297	ensembl	human	known	69_37n	nonsense	11	35.29	6	SNP	0.002	A
RGS3	5998	genome.wustl.edu	37	9	116359127	116359127	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr9:116359127A>G	ENST00000374140.2	+	26	3700	c.3491A>G	c.(3490-3492)cAg>cGg	p.Q1164R	RGS3_ENST00000350696.5_Missense_Mutation_p.Q1164R|RGS3_ENST00000343817.5_Missense_Mutation_p.Q883R|RGS3_ENST00000342620.5_Missense_Mutation_p.Q134R|RGS3_ENST00000462403.1_Missense_Mutation_p.Q277R|RGS3_ENST00000374134.3_Missense_Mutation_p.Q485R|RGS3_ENST00000462143.1_Missense_Mutation_p.Q485R|RGS3_ENST00000394646.3_Missense_Mutation_p.Q557R	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1164	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GACCTGGCACAGAAGCGCATC	0.592																																						dbGAP											0													147.0	117.0	128.0					9																	116359127		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3491A>G	9.37:g.116359127A>G	ENSP00000363255:p.Gln1164Arg		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q1164R	ENST00000374140.2	37	c.3491	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	A	27.4	4.830866	0.91036	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000462403	T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.36	5.36	0.76844	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.75591	0.3870	H	0.98980	4.39	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	D	0.85953	0.1465	10	0.87932	D	0	.	14.6105	0.68512	1.0:0.0:0.0:0.0	.	557;277;1060;883;1054;1164	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	R	1164;1164;883;557;332;485;134;485;277	ENSP00000363255:Q1164R;ENSP00000259406:Q1164R;ENSP00000340284:Q883R;ENSP00000378141:Q557R;ENSP00000420356:Q485R;ENSP00000343359:Q134R;ENSP00000363249:Q485R;ENSP00000436168:Q277R	ENSP00000343359:Q134R	Q	+	2	0	RGS3	115398948	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.273000	0.95719	2.049000	0.60858	0.454000	0.30748	CAG	RGS3	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000138835		0.592	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	26	0.00	0	A	NM_017790		116359127	116359127	+1	no_errors	ENST00000350696	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	1.000	G
RRP7A	27341	genome.wustl.edu	37	22	42910760	42910760	+	Silent	SNP	A	A	G	rs28430278	byFrequency	TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr22:42910760A>G	ENST00000323013.6	-	5	501	c.486T>C	c.(484-486)tcT>tcC	p.S162S	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	162							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GGTCGGGCACAGAGTCTGCGT	0.647													A|||	129	0.0257588	0.0817	0.013	5008	,	,		21046	0.005		0.005	False		,,,				2504	0.002					dbGAP											0													40.0	43.0	42.0					22																	42910760		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.486T>C	22.37:g.42910760A>G			A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	NULL	p.S162	ENST00000323013.6	37	c.486	CCDS14036.1	22																																																																																			RRP7A	-	NULL	ENSG00000189306		0.647	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP7A	HGNC	protein_coding	OTTHUMT00000320451.1	36	0.00	0	A	NM_015703		42910760	42910760	-1	no_errors	ENST00000323013	ensembl	human	known	69_37n	silent	58	10.77	7	SNP	0.000	G
SLC4A11	83959	genome.wustl.edu	37	20	3209652	3209652	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr20:3209652A>C	ENST00000380056.3	-	16	2119	c.2072T>G	c.(2071-2073)gTg>gGg	p.V691G	SLC4A11_ENST00000539553.2_Missense_Mutation_p.V675G|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000380059.3_Missense_Mutation_p.V718G	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	691	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.V718G(1)|p.V691G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGTGCCCTTCACCAGCCTGCA	0.667																																					NSCLC(190;922 2139 10266 10292 38692)	dbGAP											2	Substitution - Missense(2)	prostate(2)											87.0	72.0	77.0					20																	3209652		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2072T>G	20.37:g.3209652A>C	ENSP00000369396:p.Val691Gly		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.V718G	ENST00000380056.3	37	c.2153	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199387	0.38806	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.79352	-1.26;-1.26;-1.26	4.93	4.93	0.64822	Bicarbonate transporter, C-terminal (1);	0.217595	0.39341	N	0.001385	T	0.81432	0.4821	M	0.83483	2.645	0.80722	D	1	B;P;P	0.42337	0.36;0.587;0.776	B;B;B	0.43052	0.161;0.381;0.406	D	0.84003	0.0344	10	0.51188	T	0.08	.	14.8866	0.70572	1.0:0.0:0.0:0.0	.	675;718;691	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	G	718;691;675	ENSP00000369399:V718G;ENSP00000369396:V691G;ENSP00000441370:V675G	ENSP00000369396:V691G	V	-	2	0	SLC4A11	3157652	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.200000	0.77838	1.989000	0.58080	0.379000	0.24179	GTG	SLC4A11	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk	ENSG00000088836		0.667	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	55	0.00	0	A			3209652	3209652	-1	no_errors	ENST00000380059	ensembl	human	known	69_37n	missense	71	21.51	20	SNP	1.000	C
TFAP4	7023	genome.wustl.edu	37	16	4311920	4311920	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr16:4311920G>A	ENST00000204517.6	-	4	713	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	129					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TCCTCTGCCCGCCGTCGCTTG	0.657											OREG0023575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													32.0	31.0	31.0					16																	4311920		2196	4300	6496	-	-	-	SO:0001583	missense	0			X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.385C>T	16.37:g.4311920G>A	ENSP00000204517:p.Arg129Trp	617	O60409	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.R129W	ENST00000204517.6	37	c.385	CCDS10510.1	16	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465849	0.84425	.	.	ENSG00000090447	ENST00000204517	D	0.98947	-5.26	5.13	2.86	0.33363	.	0.000000	0.64402	D	0.000001	D	0.97807	0.9280	N	0.19112	0.55	0.50171	D	0.999851	D	0.89917	1.0	D	0.75020	0.985	D	0.98276	1.0506	10	0.87932	D	0	.	13.9089	0.63855	0.0:0.0:0.6213:0.3787	.	129	Q01664	TFAP4_HUMAN	W	129	ENSP00000204517:R129W	ENSP00000204517:R129W	R	-	1	2	TFAP4	4251921	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.047000	0.64232	1.102000	0.41551	0.462000	0.41574	CGG	TFAP4	-	NULL	ENSG00000090447		0.657	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP4	HGNC	protein_coding	OTTHUMT00000251595.2	17	0.00	0	G	NM_003223		4311920	4311920	-1	no_errors	ENST00000204517	ensembl	human	known	69_37n	missense	46	20.34	12	SNP	1.000	A
ZNF587	84914	genome.wustl.edu	37	19	58370315	58370315	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1EX-01A-11D-A13L-09	TCGA-BH-A1EX-11A-21D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	537b1685-0882-48ee-a38a-a05b5d1c8ba1	2abdd492-bbe2-4ce1-a590-8143a86660c3	g.chr19:58370315G>T	ENST00000339656.5	+	3	717	c.535G>T	c.(535-537)Gtt>Ttt	p.V179F	ZNF814_ENST00000597652.1_5'Flank|ZNF587_ENST00000423137.1_Missense_Mutation_p.V178F|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.V136F|ZNF814_ENST00000595295.1_Missense_Mutation_p.R25S|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TGGGAAGGACGTTCTGCCCAG	0.463																																					Pancreas(59;641 1233 1885 20055 50741)	dbGAP											0													177.0	156.0	163.0					19																	58370315		2197	4298	6495	-	-	-	SO:0001583	missense	0			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.535G>T	19.37:g.58370315G>T	ENSP00000345479:p.Val179Phe		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V179F	ENST00000339656.5	37	c.535	CCDS12964.1	19	.	.	.	.	.	.	.	.	.	.	.	0	-2.871472	0.00062	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.05786	3.46;3.46;3.39	1.4	-2.8	0.05823	.	.	.	.	.	T	0.01421	0.0046	N	0.00808	-1.17	0.26068	N	0.981257	B;B	0.13594	0.008;0.0	B;B	0.11329	0.006;0.0	T	0.40572	-0.9556	8	0.02654	T	1	.	5.2415	0.15473	0.1858:0.0:0.5846:0.2295	.	178;179	G3V0H5;Q96SQ5	.;ZN587_HUMAN	F	136;178;179;179;136	ENSP00000393865:V178F;ENSP00000345479:V179F;ENSP00000406999:V136F	ENSP00000345479:V179F	V	+	1	0	ZNF587	63062127	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.188000	0.09642	-1.568000	0.01670	-1.098000	0.02139	GTT	ZNF587	-	NULL	ENSG00000198466		0.463	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000337594.2	202	0.98	2	G	NM_032828		58370315	58370315	+1	no_errors	ENST00000339656	ensembl	human	known	69_37n	missense	372	17.88	81	SNP	0.000	T
