#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
AASDHPPT	60496	genome.wustl.edu	37	11	105948464	105948464	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr11:105948464C>G	ENST00000278618.4	+	1	249	c.27C>G	c.(25-27)tgC>tgG	p.C9W	KBTBD3_ENST00000526793.1_5'Flank|KBTBD3_ENST00000531837.1_5'UTR|KBTBD3_ENST00000534815.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	9					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.C9*(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AACGGTTCTGCTTGGTGCCAT	0.642																																						dbGAP											1	Substitution - Nonsense(1)	prostate(1)											96.0	86.0	89.0					11																	105948464		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.27C>G	11.37:g.105948464C>G	ENSP00000278618:p.Cys9Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	pfam_4-PPantetheinyl_Trfase,superfamily_4-PPantetheinyl_Trfase	p.C9W	ENST00000278618.4	37	c.27	CCDS31664.1	11	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915830	0.33815	.	.	ENSG00000149313	ENST00000278618	.	.	.	4.87	0.435	0.16544	.	0.324485	0.27004	N	0.021406	T	0.26048	0.0635	L	0.35723	1.085	0.19575	N	0.999966	B	0.02656	0.0	B	0.01281	0.0	T	0.16808	-1.0390	9	0.66056	D	0.02	.	2.7969	0.05403	0.1453:0.5464:0.1413:0.167	.	9	Q9NRN7	ADPPT_HUMAN	W	9	.	ENSP00000278618:C9W	C	+	3	2	AASDHPPT	105453674	0.000000	0.05858	0.026000	0.17262	0.337000	0.28794	-0.081000	0.11321	0.212000	0.20703	0.563000	0.77884	TGC	AASDHPPT	-	NULL	ENSG00000149313		0.642	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDHPPT	HGNC	protein_coding	OTTHUMT00000388734.1	118	0.00	0	C	NM_015423		105948464	105948464	+1	no_errors	ENST00000278618	ensembl	human	known	69_37n	missense	81	24.30	26	SNP	0.047	G
ABCA12	26154	genome.wustl.edu	37	2	215843156	215843156	+	Frame_Shift_Del	DEL	T	T	-	rs387906285		TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr2:215843156delT	ENST00000272895.7	-	33	5231	c.5012delA	c.(5011-5013)aatfs	p.N1671fs	ABCA12_ENST00000389661.4_Frame_Shift_Del_p.N1353fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1671					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATAGCACTATTTTTTTGTGA	0.378																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0			GRCh37	CD051281	ABCA12	D							144.0	131.0	136.0					2																	215843156		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5012delA	2.37:g.215843156delT	ENSP00000272895:p.Asn1671fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.N1671fs	ENST00000272895.7	37	c.5012	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	404	0.00	0	T	NM_173076		215843156	215843156	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	frame_shift_del	245	44.52	199	DEL	0.000	-
ABCC8	6833	genome.wustl.edu	37	11	17498260	17498260	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr11:17498260G>A	ENST00000389817.3	-	1	132	c.64C>T	c.(64-66)Ctc>Ttc	p.L22F	ABCC8_ENST00000302539.4_Missense_Mutation_p.L22F			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	22					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCGTTGTTGAGGACCCCCTGG	0.677																																						dbGAP											0													35.0	36.0	35.0					11																	17498260		2199	4292	6491	-	-	-	SO:0001583	missense	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.64C>T	11.37:g.17498260G>A	ENSP00000374467:p.Leu22Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L22F	ENST00000389817.3	37	c.64	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	g	21.2	4.110328	0.77210	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.96685	-4.09;-4.09	4.14	3.22	0.36961	.	0.092801	0.44902	N	0.000411	D	0.96078	0.8722	L	0.58302	1.8	0.49582	D	0.999803	B;P	0.50066	0.076;0.931	B;P	0.55011	0.049;0.766	D	0.93996	0.7271	10	0.34782	T	0.22	.	11.0793	0.48051	0.0934:0.0:0.9066:0.0	.	22;22	B7Z4N0;Q09428	.;ABCC8_HUMAN	F	22;22;36	ENSP00000374467:L22F;ENSP00000303960:L22F	ENSP00000303960:L22F	L	-	1	0	ABCC8	17454836	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.475000	0.97721	0.727000	0.32360	0.443000	0.29094	CTC	ABCC8	-	NULL	ENSG00000006071		0.677	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	30	0.00	0	G	NM_000352		17498260	17498260	-1	no_errors	ENST00000302539	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	1.000	A
AP5B1	91056	genome.wustl.edu	37	11	65545388	65545391	+	Frame_Shift_Del	DEL	TCGG	TCGG	-			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	TCGG	TCGG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr11:65545388_65545391delTCGG	ENST00000532090.2	-	2	2783_2786	c.2573_2576delCCGA	c.(2572-2577)accgatfs	p.TD858fs		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	858					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGCCCAGTCATCGGTCCGCAGGGC	0.696																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.2573_2576delCCGA	11.37:g.65545388_65545391delTCGG	ENSP00000454303:p.Thr858fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Frame_Shift_Del	DEL	NULL	p.T858fs	ENST00000532090.2	37	c.2576_2573	CCDS58146.1	11																																																																																			AP5B1	-	NULL	ENSG00000254470		0.696	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	16	0.00	0	TCGG	NM_138368		65545388	65545391	-1	no_errors	ENST00000532090	ensembl	human	novel	69_37n	frame_shift_del	13	23.53	4	DEL	0.358:0.353:0.075:0.964	-
APOBEC2	10930	genome.wustl.edu	37	6	41029366	41029367	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr6:41029366_41029367insCC	ENST00000244669.2	+	2	475_476	c.431_432insCC	c.(430-435)aacctgfs	p.L145fs		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	145					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGACCAAGAACCTGCGTCTGC	0.564																																					Ovarian(118;1320 2185 8096 29684)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.432_433dupCC	6.37:g.41029367_41029368dupCC	ENSP00000244669:p.Leu145fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R899|Q53F28|Q5TGU5|Q5TGU6	Frame_Shift_Ins	INS	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.L145fs	ENST00000244669.2	37	c.431_432	CCDS4848.1	6																																																																																			APOBEC2	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like	ENSG00000124701		0.564	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC2	HGNC	protein_coding	OTTHUMT00000040498.1	103	0.00	0	-	NM_006789		41029366	41029367	+1	no_errors	ENST00000244669	ensembl	human	known	69_37n	frame_shift_ins	152	11.63	20	INS	1.000:1.000	CC
ATG2B	55102	genome.wustl.edu	37	14	96779679	96779679	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr14:96779679C>A	ENST00000359933.4	-	24	4629	c.3736G>T	c.(3736-3738)Gca>Tca	p.A1246S	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1246					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TAATCAAGTGCACAGCTCCAA	0.274																																						dbGAP											0													53.0	54.0	54.0					14																	96779679		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3736G>T	14.37:g.96779679C>A	ENSP00000353010:p.Ala1246Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.A1246S	ENST00000359933.4	37	c.3736	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240820	0.79912	.	.	ENSG00000066739	ENST00000359933	T	0.12465	2.68	5.66	5.66	0.87406	.	0.170039	0.52532	D	0.000061	T	0.17450	0.0419	L	0.42245	1.32	0.48901	D	0.999721	B	0.28026	0.198	B	0.34873	0.191	T	0.06844	-1.0804	10	0.18276	T	0.48	.	19.748	0.96258	0.0:1.0:0.0:0.0	.	1246	Q96BY7	ATG2B_HUMAN	S	1246	ENSP00000353010:A1246S	ENSP00000353010:A1246S	A	-	1	0	ATG2B	95849432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.353000	0.59411	2.663000	0.90544	0.655000	0.94253	GCA	ATG2B	-	NULL	ENSG00000066739		0.274	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	163	0.00	0	C	NM_018036		96779679	96779679	-1	no_errors	ENST00000359933	ensembl	human	known	69_37n	missense	61	33.70	31	SNP	1.000	A
ATN1	1822	genome.wustl.edu	37	12	7048007	7048007	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr12:7048007C>T	ENST00000356654.4	+	7	3118	c.2881C>T	c.(2881-2883)Cat>Tat	p.H961Y	ATN1_ENST00000396684.2_Missense_Mutation_p.H961Y	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	961					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGAACCCCTACATGGGGTCCC	0.657																																						dbGAP											0													41.0	48.0	46.0					12																	7048007		2203	4300	6503	-	-	-	SO:0001583	missense	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2881C>T	12.37:g.7048007C>T	ENSP00000349076:p.His961Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.H961Y	ENST00000356654.4	37	c.2881	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354935	0.61293	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.47528	0.84;0.84;0.84	4.91	4.02	0.46733	.	0.229243	0.22135	U	0.064132	T	0.63977	0.2557	L	0.54323	1.7	0.37539	D	0.918223	D	0.54047	0.964	D	0.75020	0.985	T	0.71748	-0.4499	10	0.87932	D	0	.	15.1837	0.72982	0.1419:0.8581:0.0:0.0	.	961	P54259	ATN1_HUMAN	Y	961;961;961;546	ENSP00000349076:H961Y;ENSP00000379915:H961Y;ENSP00000441744:H961Y	ENSP00000229279:H546Y	H	+	1	0	ATN1	6918268	0.996000	0.38824	0.030000	0.17652	0.730000	0.41778	3.426000	0.52778	1.435000	0.47434	0.650000	0.86243	CAT	ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.657	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	29	0.00	0	C	NM_001940		7048007	7048007	+1	no_errors	ENST00000356654	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	0.614	T
BACH1	571	genome.wustl.edu	37	21	30699407	30699407	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr21:30699407C>T	ENST00000399921.1	+	3	1505	c.1262C>T	c.(1261-1263)gCc>gTc	p.A421V	BACH1_ENST00000286800.3_Missense_Mutation_p.A421V	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CCTGCTGTGGCCAAAGATGGC	0.502																																						dbGAP											0													77.0	70.0	73.0					21																	30699407		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1262C>T	21.37:g.30699407C>T	ENSP00000382805:p.Ala421Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.A421V	ENST00000399921.1	37	c.1262	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748223	0.30955	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.72051	-0.62;-0.62	5.49	5.49	0.81192	.	0.364462	0.26642	N	0.023246	T	0.55226	0.1907	L	0.29908	0.895	0.28535	N	0.912406	B	0.18741	0.03	B	0.12837	0.008	T	0.42849	-0.9427	10	0.25106	T	0.35	-8.6554	8.9767	0.35939	0.1484:0.7774:0.0:0.0741	.	421	O14867	BACH1_HUMAN	V	421	ENSP00000286800:A421V;ENSP00000382805:A421V	ENSP00000286800:A421V	A	+	2	0	BACH1	29621278	0.770000	0.28543	0.999000	0.59377	0.976000	0.68499	1.019000	0.30014	2.733000	0.93635	0.655000	0.94253	GCC	BACH1	-	NULL	ENSG00000156273		0.502	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	114	0.00	0	C	NM_206866		30699407	30699407	+1	no_errors	ENST00000286800	ensembl	human	known	69_37n	missense	123	25.00	41	SNP	0.951	T
CCPG1	9236	genome.wustl.edu	37	15	55681620	55681620	+	Start_Codon_SNP	SNP	C	C	G			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr15:55681620C>G	ENST00000310958.6	-	2	301	c.3G>C	c.(1-3)atG>atC	p.M1I	CCPG1_ENST00000569205.1_Start_Codon_SNP_p.M1I|CCPG1_ENST00000425574.3_Start_Codon_SNP_p.M1I|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Start_Codon_SNP_p.M1I	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	1	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AATTTTCAGACATCTTTCAGG	0.303																																						dbGAP											0													67.0	62.0	64.0					15																	55681620		1822	4075	5897	-	-	-	SO:0001582	initiator_codon_variant	0			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.3G>C	15.37:g.55681620C>G	ENSP00000311656:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.M1I	ENST00000310958.6	37	c.3	CCDS42039.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.013616|4.013616	0.75161|0.75161	.|.	.|.	ENSG00000256061|ENSG00000256061	ENST00000420792|ENST00000310958;ENST00000442196;ENST00000425574	.|T;T;T	.|0.48836	.|3.15;3.15;0.8	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69360|0.69360	0.3102|0.3102	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.982;0.982;0.996	.|D;D;D	.|0.75484	.|0.961;0.961;0.986	T|T	0.73477|0.73477	-0.3970|-0.3970	5|9	0.87932|0.87932	D|D	0|0	.|.	15.7227|15.7227	0.77724|0.77724	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1;1;1	.|A8K9T0;Q9ULG6-3;Q9ULG6	.|.;.;CCPG1_HUMAN	S|I	302|1	.|ENSP00000311656:M1I;ENSP00000403400:M1I;ENSP00000415128:M1I	ENSP00000392005:C302S|ENSP00000311656:M1I	C|M	-|-	2|3	0|0	DYX1C1|DYX1C1	53468912|53468912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.014000|5.014000	0.64029|0.64029	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	TGT|ATG	CCPG1	-	NULL	ENSG00000260916		0.303	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	203	0.00	0	C	NM_004748	Missense_Mutation	55681620	55681620	-1	no_errors	ENST00000310958	ensembl	human	known	69_37n	missense	81	22.86	24	SNP	1.000	G
CNPY3	10695	genome.wustl.edu	37	6	42906359	42906359	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr6:42906359G>C	ENST00000372836.4	+	6	1038	c.667G>C	c.(667-669)Ggg>Cgg	p.G223R	RP3-475N16.1_ENST00000450671.1_RNA|CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	223	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGCCCTGGGAGGGAAGAAGTC	0.612																																						dbGAP											0													68.0	68.0	68.0					6																	42906359		2201	4299	6500	-	-	-	SO:0001583	missense	0			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.667G>C	6.37:g.42906359G>C	ENSP00000361926:p.Gly223Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Missense_Mutation	SNP	pfam_DUF3456	p.G223R	ENST00000372836.4	37	c.667	CCDS4875.1	6	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761305	0.49468	.	.	ENSG00000137161	ENST00000372836	T	0.22945	1.93	5.02	5.02	0.67125	.	0.168925	0.52532	D	0.000069	T	0.10465	0.0256	L	0.44542	1.39	0.80722	D	1	B	0.30068	0.267	B	0.30029	0.11	T	0.06445	-1.0826	10	0.25106	T	0.35	-44.8004	9.857	0.41092	0.0948:0.0:0.9052:0.0	.	223	Q9BT09	CNPY3_HUMAN	R	223	ENSP00000361926:G223R	ENSP00000361926:G223R	G	+	1	0	CNPY3	43014337	1.000000	0.71417	0.992000	0.48379	0.959000	0.62525	3.984000	0.56923	2.504000	0.84457	0.462000	0.41574	GGG	CNPY3	-	NULL	ENSG00000137161		0.612	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY3	HGNC	protein_coding	OTTHUMT00000040564.1	217	0.00	0	G	NM_006586		42906359	42906359	+1	no_errors	ENST00000372836	ensembl	human	known	69_37n	missense	299	14.04	49	SNP	0.997	C
CORO7	79585	genome.wustl.edu	37	16	4458194	4458194	+	Silent	SNP	C	C	A			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr16:4458194C>A	ENST00000251166.4	-	4	436	c.291G>T	c.(289-291)tcG>tcT	p.S97S	CORO7-PAM16_ENST00000572467.1_Silent_p.S97S|CORO7_ENST00000537233.2_Silent_p.S79S|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_5'UTR|CORO7_ENST00000577144.1_5'UTR|CORO7_ENST00000423908.2_Intron	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	97					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TCCTGTCAGCCGAGCCTGTGG	0.602																																						dbGAP											0													128.0	113.0	118.0					16																	4458194		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.291G>T	16.37:g.4458194C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S97	ENST00000251166.4	37	c.291	CCDS10513.1	16																																																																																			CORO7	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000103426		0.602	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7	HGNC	protein_coding	OTTHUMT00000251628.2	114	0.00	0	C	NM_024535		4458194	4458194	-1	no_errors	ENST00000572467	ensembl	human	known	69_37n	silent	130	14.53	26	SNP	0.226	A
DCC	1630	genome.wustl.edu	37	18	50985621	50985621	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr18:50985621G>A	ENST00000442544.2	+	24	4028	c.3412G>A	c.(3412-3414)Gct>Act	p.A1138T	DCC_ENST00000581580.1_Missense_Mutation_p.A773T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1138					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACCCACAGTGCTGGCAAAAG	0.453																																						dbGAP											0													58.0	57.0	58.0					18																	50985621		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3412G>A	18.37:g.50985621G>A	ENSP00000389140:p.Ala1138Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A1138T	ENST00000442544.2	37	c.3412	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	9.212	1.031232	0.19590	.	.	ENSG00000187323	ENST00000442544	T	0.49432	0.78	5.93	5.02	0.67125	.	0.478086	0.19640	N	0.109467	T	0.33498	0.0865	N	0.16478	0.41	0.29884	N	0.825759	B	0.12013	0.005	B	0.08055	0.003	T	0.29488	-1.0010	10	0.54805	T	0.06	-0.6118	13.0963	0.59195	0.0824:0.0:0.9176:0.0	.	1138	P43146	DCC_HUMAN	T	1138	ENSP00000389140:A1138T	ENSP00000389140:A1138T	A	+	1	0	DCC	49239619	0.982000	0.34865	0.606000	0.28943	0.423000	0.31445	3.013000	0.49582	1.436000	0.47453	-0.345000	0.07892	GCT	DCC	-	pfam_Neogenin_C	ENSG00000187323		0.453	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	103	0.00	0	G	NM_005215		50985621	50985621	+1	no_errors	ENST00000442544	ensembl	human	known	69_37n	missense	76	19.15	18	SNP	0.998	A
DNAH7	56171	genome.wustl.edu	37	2	196749476	196749476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr2:196749476G>A	ENST00000312428.6	-	35	5696	c.5596C>T	c.(5596-5598)Cga>Tga	p.R1866*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1866					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATTTCAATCGATCATCATCT	0.348																																						dbGAP											0													87.0	79.0	82.0					2																	196749476		1851	4096	5947	-	-	-	SO:0001587	stop_gained	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5596C>T	2.37:g.196749476G>A	ENSP00000311273:p.Arg1866*	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.R1866*	ENST00000312428.6	37	c.5596	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	47	13.312879	0.99734	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1782	0.81884	0.0:0.0:0.8656:0.1344	.	.	.	.	X	1866	.	ENSP00000311273:R1866X	R	-	1	2	DNAH7	196457721	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	4.565000	0.60836	1.535000	0.49220	0.655000	0.94253	CGA	DNAH7	-	NULL	ENSG00000118997		0.348	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	188	0.00	0	G	NM_018897		196749476	196749476	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	nonsense	125	44.93	102	SNP	1.000	A
DRD5	1816	genome.wustl.edu	37	4	9784550	9784550	+	Silent	SNP	G	G	A	rs2227844	byFrequency	TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr4:9784550G>A	ENST00000304374.2	+	1	1293	c.897G>A	c.(895-897)tcG>tcA	p.S299S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	299					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AGACCCTGTCGGTGATCATGG	0.632																																						dbGAP											0													55.0	52.0	53.0					4																	9784550		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.897G>A	4.37:g.9784550G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9S3|Q8NEQ8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Dopa_1B_rcpt,prints_Dopamine_rcpt	p.S299	ENST00000304374.2	37	c.897	CCDS3405.1	4																																																																																			DRD5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000169676		0.632	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1	36	0.00	0	G			9784550	9784550	+1	no_errors	ENST00000304374	ensembl	human	known	69_37n	silent	28	12.50	4	SNP	0.303	A
FLII	2314	genome.wustl.edu	37	17	18155040	18155040	+	Missense_Mutation	SNP	A	A	C			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr17:18155040A>C	ENST00000327031.4	-	12	1562	c.1337T>G	c.(1336-1338)cTg>cGg	p.L446R	FLII_ENST00000578558.1_Missense_Mutation_p.L445R|FLII_ENST00000545457.2_Missense_Mutation_p.L391R|FLII_ENST00000584444.1_5'Flank|FLII_ENST00000379450.4_Missense_Mutation_p.L360R|FLII_ENST00000579294.1_Missense_Mutation_p.L435R	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	446					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CATGCCCTTCAGCACCTGCTT	0.602																																						dbGAP											0													147.0	137.0	140.0					17																	18155040		2203	4300	6503	-	-	-	SO:0001583	missense	0			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1337T>G	17.37:g.18155040A>C	ENSP00000324573:p.Leu446Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin	p.L446R	ENST00000327031.4	37	c.1337	CCDS11192.1	17	.	.	.	.	.	.	.	.	.	.	A	28.6	4.934171	0.92458	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.50813	0.86;2.06;0.73	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	M	0.82323	2.585	0.80722	D	1	D;D;D;P;D	0.89917	0.999;0.999;1.0;0.945;0.999	D;D;D;P;D	0.87578	0.998;0.998;0.994;0.735;0.996	T	0.76680	-0.2870	10	0.87932	D	0	-16.5181	16.0993	0.81158	1.0:0.0:0.0:0.0	.	360;360;446;446;415	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	R	446;446;360	ENSP00000324573:L446R;ENSP00000438536:L446R;ENSP00000368763:L360R	ENSP00000324573:L446R	L	-	2	0	FLII	18095765	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.749000	0.91619	2.207000	0.71202	0.459000	0.35465	CTG	FLII	-	NULL	ENSG00000177731		0.602	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	189	0.53	1	A	NM_002018		18155040	18155040	-1	no_errors	ENST00000327031	ensembl	human	known	69_37n	missense	111	30.63	49	SNP	1.000	C
FLT1	2321	genome.wustl.edu	37	13	28896410	28896410	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr13:28896410A>G	ENST00000282397.4	-	22	3291	c.3040T>C	c.(3040-3042)Tct>Cct	p.S1014P	FLT1_ENST00000543394.1_Missense_Mutation_p.S37P|FLT1_ENST00000540678.1_Missense_Mutation_p.S232P	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1014	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTCTGGAAGACAGGAACTCC	0.423																																						dbGAP											0													120.0	110.0	114.0					13																	28896410		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3040T>C	13.37:g.28896410A>G	ENSP00000282397:p.Ser1014Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.S1014P	ENST00000282397.4	37	c.3040	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798335	0.50208	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.89343	-2.5;-2.5;-2.5	5.71	5.71	0.89125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060238	0.64402	D	0.000002	D	0.92828	0.7719	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.93338	0.6707	10	0.87932	D	0	.	11.9148	0.52759	0.8548:0.1452:0.0:0.0	.	1014	P17948	VGFR1_HUMAN	P	1014;37;232	ENSP00000282397:S1014P;ENSP00000437841:S37P;ENSP00000443311:S232P	ENSP00000282397:S1014P	S	-	1	0	FLT1	27794410	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	2.987000	0.49378	2.183000	0.69458	0.454000	0.30748	TCT	FLT1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000102755		0.423	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	209	0.00	0	A			28896410	28896410	-1	no_errors	ENST00000282397	ensembl	human	known	69_37n	missense	75	56.14	96	SNP	1.000	G
FNIP1	96459	genome.wustl.edu	37	5	131046309	131046309	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr5:131046309C>A	ENST00000510461.1	-	7	763	c.668G>T	c.(667-669)gGt>gTt	p.G223V	FNIP1_ENST00000307954.8_Missense_Mutation_p.G178V|FNIP1_ENST00000511848.1_Missense_Mutation_p.G223V|FNIP1_ENST00000307968.7_Intron|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	223					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GCGGAGCGGACCCTGCTCAGA	0.512																																						dbGAP											0													46.0	41.0	42.0					5																	131046309		2203	4300	6503	-	-	-	SO:0001583	missense	0			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.668G>T	5.37:g.131046309C>A	ENSP00000421985:p.Gly223Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	NULL	p.G223V	ENST00000510461.1	37	c.668	CCDS34227.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.154333	0.94686	.	.	ENSG00000217128	ENST00000307954;ENST00000510461;ENST00000511848	T;T;T	0.26957	2.43;2.36;1.7	5.69	5.69	0.88448	.	.	.	.	.	T	0.51517	0.1679	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.982	T	0.33879	-0.9851	9	0.33940	T	0.23	-10.451	19.8073	0.96535	0.0:1.0:0.0:0.0	.	223;223;223	A8K8V8;Q8TF40-2;Q8TF40	.;.;FNIP1_HUMAN	V	178;223;223	ENSP00000310453:G178V;ENSP00000421985:G223V;ENSP00000425619:G223V	ENSP00000310453:G178V	G	-	2	0	FNIP1	131074208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.684000	0.91462	0.655000	0.94253	GGT	FNIP1	-	NULL	ENSG00000217128		0.512	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	HGNC	protein_coding	OTTHUMT00000370077.1	86	0.00	0	C	NM_133372		131046309	131046309	-1	no_errors	ENST00000510461	ensembl	human	known	69_37n	missense	48	33.33	24	SNP	1.000	A
GAB4	128954	genome.wustl.edu	37	22	17468927	17468927	+	Silent	SNP	C	C	T	rs545946229		TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr22:17468927C>T	ENST00000400588.1	-	3	716	c.609G>A	c.(607-609)ccG>ccA	p.P203P	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	203										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCCAGGTGGGCGGCACACAGT	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		14189	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													31.0	40.0	37.0					22																	17468927		2058	4212	6270	-	-	-	SO:0001819	synonymous_variant	0			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.609G>A	22.37:g.17468927C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R148H	ENST00000400588.1	37	c.443	CCDS42976.1	22																																																																																			GAB4	-	NULL	ENSG00000215568		0.642	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	120	0.00	0	C	XM_372882		17468927	17468927	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000465611	ensembl	human	known	69_37n	missense	64	22.89	19	SNP	0.533	T
GALNT3	2591	genome.wustl.edu	37	2	166618455	166618455	+	Silent	SNP	T	T	C			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr2:166618455T>C	ENST00000392701.3	-	4	1573	c.798A>G	c.(796-798)acA>acG	p.T266T	GALNT3_ENST00000409882.1_5'Flank	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	266	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTGTTGCGACTGTTGCTCCTA	0.353																																						dbGAP											0													133.0	129.0	130.0					2																	166618455		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.798A>G	2.37:g.166618455T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TG9|Q7Z476	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.T266	ENST00000392701.3	37	c.798	CCDS2226.1	2																																																																																			GALNT3	-	pfam_Glyco_trans_2	ENSG00000115339		0.353	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT3	HGNC	protein_coding	OTTHUMT00000255205.2	341	0.00	0	T	NM_004482		166618455	166618455	-1	no_errors	ENST00000392701	ensembl	human	known	69_37n	silent	152	43.91	119	SNP	0.973	C
GREB1L	80000	genome.wustl.edu	37	18	19102675	19102675	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr18:19102675C>T	ENST00000580732.2	+	33	6046	c.5665C>T	c.(5665-5667)Cgc>Tgc	p.R1889C	GREB1L_ENST00000269218.6_Missense_Mutation_p.R1780C|GREB1L_ENST00000424526.1_Missense_Mutation_p.R1889C|GREB1L_ENST00000400483.4_3'UTR			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	1889						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						AACAATTGTCCGCTTAGAGCT	0.478																																						dbGAP											0													99.0	85.0	89.0					18																	19102675		692	1591	2283	-	-	-	SO:0001583	missense	0			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.5665C>T	18.37:g.19102675C>T	ENSP00000464162:p.Arg1889Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN17|Q9H8F1	Missense_Mutation	SNP	NULL	p.R1889C	ENST00000580732.2	37	c.5665	CCDS45836.1	18	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704675	0.88924	.	.	ENSG00000141449	ENST00000424526;ENST00000269218	T;T	0.12361	2.69;2.72	5.98	5.98	0.97165	.	.	.	.	.	T	0.41236	0.1150	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.08391	-1.0724	9	0.87932	D	0	-13.5518	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1889	Q9C091	GRB1L_HUMAN	C	1889;1780	ENSP00000412060:R1889C;ENSP00000269218:R1780C	ENSP00000269218:R1780C	R	+	1	0	GREB1L	17356673	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.398000	0.79919	2.835000	0.97688	0.650000	0.86243	CGC	GREB1L	-	NULL	ENSG00000141449		0.478	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	174	0.00	0	C	NM_024935		19102675	19102675	+1	no_errors	ENST00000424526	ensembl	human	known	69_37n	missense	112	27.74	43	SNP	1.000	T
HOXD11	3237	genome.wustl.edu	37	2	176973668	176973668	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr2:176973668C>A	ENST00000249504.5	+	2	885	c.815C>A	c.(814-816)cCc>cAc	p.P272H	HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR|AC009336.1_ENST00000401374.2_RNA	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	272					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AAGCGCTGTCCCTATACCAAG	0.572			T	NUP98	AML																																	dbGAP		Dom	yes		2	2q31-q32	3237	homeo box D11		L	0													83.0	91.0	89.0					2																	176973668		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"""Homeoboxes / ANTP class : HOXL subclass"""	5134	protein-coding gene	gene with protein product		142986	"""homeo box D11"""	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.815C>A	2.37:g.176973668C>A	ENSP00000249504:p.Pro272His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIS4|Q9NS02	Missense_Mutation	SNP	pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.P272H	ENST00000249504.5	37	c.815	CCDS2265.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187753	0.78789	.	.	ENSG00000128713	ENST00000249504;ENST00000392538	D	0.96168	-3.93	5.42	5.42	0.78866	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.34959	U	0.003543	D	0.97977	0.9334	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98691	1.0696	10	0.87932	D	0	.	19.2199	0.93791	0.0:1.0:0.0:0.0	.	272	P31277	HXD11_HUMAN	H	272;93	ENSP00000249504:P272H	ENSP00000249504:P272H	P	+	2	0	HOXD11	176681914	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.801000	0.85960	2.552000	0.86080	0.603000	0.83216	CCC	HOXD11	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000128713		0.572	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD11	HGNC	protein_coding	OTTHUMT00000359250.2	126	0.00	0	C			176973668	176973668	+1	no_errors	ENST00000249504	ensembl	human	known	69_37n	missense	105	16.00	20	SNP	1.000	A
IPO13	9670	genome.wustl.edu	37	1	44413299	44413299	+	Silent	SNP	G	G	T			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr1:44413299G>T	ENST00000372343.3	+	1	689	c.27G>T	c.(25-27)ggG>ggT	p.G9G	RP11-7O11.3_ENST00000446167.1_RNA|RP11-7O11.3_ENST00000445226.1_RNA|RP11-7O11.3_ENST00000412378.1_RNA	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	9					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGCAGCCGGGGGCTGCAGGGG	0.667																																						dbGAP											0													26.0	27.0	27.0					1																	44413299		1705	3187	4892	-	-	-	SO:0001819	synonymous_variant	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.27G>T	1.37:g.44413299G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.G9	ENST00000372343.3	37	c.27	CCDS503.1	1																																																																																			IPO13	-	NULL	ENSG00000117408		0.667	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	55	0.00	0	G	NM_014652		44413299	44413299	+1	no_errors	ENST00000372343	ensembl	human	known	69_37n	silent	44	16.98	9	SNP	1.000	T
LIPT2	387787	genome.wustl.edu	37	11	74203306	74203306	+	Silent	SNP	T	T	G			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr11:74203306T>G	ENST00000310109.4	-	2	599	c.570A>C	c.(568-570)acA>acC	p.T190T	AP001372.2_ENST00000526036.1_lincRNA	NM_001144869.1	NP_001138341.1	A6NK58	LIPT2_HUMAN	lipoyl(octanoyl) transferase 2 (putative)	190	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipoate biosynthetic process (GO:0009107)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|lipoyl(octanoyl) transferase activity (GO:0033819)|octanoyltransferase activity (GO:0016415)			endometrium(1)|prostate(1)|stomach(1)	3						AAGTGACGCCTGTCCCAACCA	0.557																																						dbGAP											0													116.0	94.0	101.0					11																	74203306		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS44679.1	11q13.4	2009-09-09			ENSG00000175536	ENSG00000175536			37216	protein-coding gene	gene with protein product							Standard	NM_001144869		Approved		uc010rrk.2	A6NK58	OTTHUMG00000165646	ENST00000310109.4:c.570A>C	11.37:g.74203306T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_BPL_LipA_LipB,tigrfam_Octanoyltransferase	p.T190	ENST00000310109.4	37	c.570	CCDS44679.1	11																																																																																			LIPT2	-	tigrfam_Octanoyltransferase	ENSG00000175536		0.557	LIPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPT2	HGNC	protein_coding	OTTHUMT00000385544.1	114	0.00	0	T	NM_001144869		74203306	74203306	-1	no_errors	ENST00000310109	ensembl	human	known	69_37n	silent	123	18.54	28	SNP	0.853	G
LRRC41	10489	genome.wustl.edu	37	1	46746855	46746855	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr1:46746855delA	ENST00000343304.6	-	5	1983	c.1698delT	c.(1696-1698)cctfs	p.P566fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	566					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGCACACCAGGGTTGTCCC	0.587																																						dbGAP											0													83.0	72.0	76.0					1																	46746855		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1698delT	1.37:g.46746855delA	ENSP00000343298:p.Pro566fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Frame_Shift_Del	DEL	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.G567fs	ENST00000343304.6	37	c.1698	CCDS533.1	1																																																																																			LRRC41	-	NULL	ENSG00000132128		0.587	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	96	0.00	0	A	NM_006369		46746855	46746855	-1	no_errors	ENST00000343304	ensembl	human	known	69_37n	frame_shift_del	83	17.43	19	DEL	0.983	-
MUC16	94025	genome.wustl.edu	37	19	9074465	9074465	+	Silent	SNP	G	G	A			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr19:9074465G>A	ENST00000397910.4	-	3	13184	c.12981C>T	c.(12979-12981)gtC>gtT	p.V4327V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4329	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATGGGTAATGACAGTGCTTG	0.498																																						dbGAP											0													114.0	113.0	113.0					19																	9074465		2105	4225	6330	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12981C>T	19.37:g.9074465G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.V4327	ENST00000397910.4	37	c.12981	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	273	0.00	0	G	NM_024690		9074465	9074465	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	222	26.49	80	SNP	0.000	A
MYO18A	399687	genome.wustl.edu	37	17	27401792	27401792	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr17:27401792G>A	ENST00000527372.1	-	42	6341	c.6161C>T	c.(6160-6162)gCa>gTa	p.A2054V	MYO18A_ENST00000354329.4_Missense_Mutation_p.A2054V|TIAF1_ENST00000359450.6_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.A2002V|MYO18A_ENST00000531253.1_Missense_Mutation_p.A2039V|MYO18A_ENST00000529578.1_5'UTR|TIAF1_ENST00000408971.2_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	2054					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCTGGGCTATGCGTTAGTCTC	0.632																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	dbGAP											0													120.0	122.0	121.0					17																	27401792		2126	4232	6358	-	-	-	SO:0001583	missense	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.6161C>T	17.37:g.27401792G>A	ENSP00000437073:p.Ala2054Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.A2054V	ENST00000527372.1	37	c.6161	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146560	0.21288	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105	D;D;D;D	0.89810	-2.44;-2.57;-2.43;-2.44	5.42	4.45	0.53987	.	0.479387	0.19603	N	0.110327	T	0.82226	0.4991	N	0.14661	0.345	0.58432	D	0.999999	P;P;P;B	0.50819	0.844;0.939;0.939;0.0	B;B;B;B	0.42827	0.399;0.399;0.399;0.001	T	0.82920	-0.0218	10	0.87932	D	0	.	15.467	0.75409	0.0:0.0:0.8594:0.1406	.	1642;2002;2039;2054	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	V	2054;2002;2002;2039;2054;935;935;1642;320	ENSP00000346291:A2054V;ENSP00000435932:A2002V;ENSP00000434228:A2039V;ENSP00000437073:A2054V	ENSP00000346291:A2054V	A	-	2	0	MYO18A	24425918	0.667000	0.27484	0.388000	0.26195	0.049000	0.14656	3.387000	0.52501	0.677000	0.31305	-0.808000	0.03180	GCA	MYO18A	-	NULL	ENSG00000196535		0.632	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	271	0.00	0	G	NM_078471		27401792	27401792	-1	no_errors	ENST00000354329	ensembl	human	known	69_37n	missense	144	33.02	71	SNP	0.687	A
NAMPTL	646309	genome.wustl.edu	37	10	36811916	36811916	+	Missense_Mutation	SNP	G	G	A	rs201546401		TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr10:36811916G>A	ENST00000543053.1	-	1	407	c.191C>T	c.(190-192)aCg>aTg	p.T64M						nicotinamide phosphoribosyltransferase-like											biliary_tract(1)|breast(3)|lung(9)|stomach(1)	14						CCCTGCTGGCGTCCTATGTAA	0.448																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					10p11.21	2013-03-27	2008-11-06	2008-11-06	ENSG00000229644	ENSG00000229644			17633	other	unknown			"""pre-B-cell colony enhancing factor 2"""	PBEF2		8289818	Standard	NG_005593		Approved	bA92J19.4			OTTHUMG00000017964	ENST00000543053.1:c.191C>T	10.37:g.36811916G>A	ENSP00000439553:p.Thr64Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C	p.T64M	ENST00000543053.1	37	c.191		10	.	.	.	.	.	.	.	.	.	.	g	12.78	2.041823	0.35989	.	.	ENSG00000229644	ENST00000440465;ENST00000543053	.	.	.	1.83	-0.718	0.11205	.	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	.	.	.	0.39329	D	0.965377	.	.	.	.	.	.	T	0.48980	-0.8986	6	0.46703	T	0.11	-4.3265	4.3714	0.11249	0.1751:0.2354:0.5896:0.0	.	.	.	.	M	416;64	.	ENSP00000407952:T416M	T	-	2	0	NAMPTL	36851922	1.000000	0.71417	0.898000	0.35279	0.764000	0.43329	2.579000	0.46059	0.140000	0.18849	0.271000	0.19318	ACG	NAMPTL	-	pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C	ENSG00000229644		0.448	NAMPTL-201	KNOWN	basic|appris_principal	protein_coding	NAMPTL	HGNC	protein_coding		379	0.00	0	G	NG_005593		36811916	36811916	-1	no_errors	ENST00000543053	ensembl	human	known	69_37n	missense	557	20.51	144	SNP	1.000	A
NWD1	284434	genome.wustl.edu	37	19	16918910	16918910	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr19:16918910T>C	ENST00000552788.1	+	16	4250	c.4250T>C	c.(4249-4251)cTg>cCg	p.L1417P	NWD1_ENST00000339803.6_Missense_Mutation_p.L1282P|NWD1_ENST00000379808.3_Missense_Mutation_p.L1417P|NWD1_ENST00000524140.2_Missense_Mutation_p.L1417P|NWD1_ENST00000549814.1_Missense_Mutation_p.L1375P|NWD1_ENST00000523826.1_Missense_Mutation_p.L1211P			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1417							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCTGGGACCTGCAGGCACGC	0.587																																						dbGAP											0													84.0	82.0	82.0					19																	16918910		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4250T>C	19.37:g.16918910T>C	ENSP00000447224:p.Leu1417Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1417P	ENST00000552788.1	37	c.4250		19	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114419	0.56505	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.69040	-0.37;0.84;-0.37;2.02;1.36;2.02	4.76	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.323197	0.25194	N	0.032434	T	0.76941	0.4058	L	0.56280	1.765	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.972;0.996;0.991	T	0.78186	-0.2302	10	0.59425	D	0.04	-16.1235	12.2215	0.54437	0.0:0.0:0.0:1.0	.	1417;1417;1282	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	P	1282;1417;1375;1417;1211;1417;1282	ENSP00000428579:L1417P;ENSP00000447548:L1375P;ENSP00000369136:L1417P;ENSP00000428955:L1211P;ENSP00000447224:L1417P;ENSP00000340159:L1282P	ENSP00000340159:L1282P	L	+	2	0	NWD1	16779910	1.000000	0.71417	0.997000	0.53966	0.430000	0.31655	5.875000	0.69660	1.768000	0.52137	0.533000	0.62120	CTG	NWD1	-	pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000188039		0.587	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	85	0.00	0	T	NM_001007525		16918910	16918910	+1	no_errors	ENST00000379808	ensembl	human	known	69_37n	missense	125	11.97	17	SNP	0.997	C
OR51E2	81285	genome.wustl.edu	37	11	4712725	4712725	+	Intron	SNP	C	C	T			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr11:4712725C>T	ENST00000396950.3	-	1	190					NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2						cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGTCAGTGGCGGACAGCATG	0.507																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.49+6157G>A	11.37:g.4712725C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA63|Q6IF94	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A68T	ENST00000396950.3	37	c.202	CCDS7751.1	11	.	.	.	.	.	.	.	.	.	.	C	3.327	-0.137429	0.06711	.	.	ENSG00000197674	ENST00000357764	T	0.00551	6.65	5.08	1.16	0.20824	.	0.363944	0.23618	N	0.046280	T	0.00384	0.0012	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.46830	-0.9163	7	0.27082	T	0.32	.	3.4443	0.07474	0.2013:0.2639:0.0:0.5348	.	.	.	.	T	68	ENSP00000350408:A68T	ENSP00000350408:A68T	A	-	1	0	OR51C1P	4669301	0.000000	0.05858	0.988000	0.46212	0.079000	0.17450	-2.054000	0.01399	0.459000	0.27016	-0.247000	0.11927	GCC	OR51C1P	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000197674		0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51C1P	HGNC	protein_coding	OTTHUMT00000257198.1	9	0.00	0	C	NM_030774		4712725	4712725	-1	no_errors	ENST00000357764	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	0.074	T
PARD3	56288	genome.wustl.edu	37	10	34400454	34400454	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr10:34400454G>C	ENST00000374789.3	-	25	4039	c.3714C>G	c.(3712-3714)gaC>gaG	p.D1238E	PARD3_ENST00000350537.4_Missense_Mutation_p.D1192E|PARD3_ENST00000374788.3_Missense_Mutation_p.D1235E|PARD3_ENST00000346874.4_Missense_Mutation_p.D1201E|PARD3_ENST00000374790.3_Missense_Mutation_p.D1178E|PARD3_ENST00000374794.3_Missense_Mutation_p.D1126E|PARD3_ENST00000545260.1_Missense_Mutation_p.D1148E|PARD3_ENST00000545693.1_Missense_Mutation_p.D1222E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1238					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCTCCCAAGAGTCCTGGGAGA	0.562																																						dbGAP											0													56.0	58.0	58.0					10																	34400454		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3714C>G	10.37:g.34400454G>C	ENSP00000363921:p.Asp1238Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1238E	ENST00000374789.3	37	c.3714	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755526	0.69648	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.18810	2.39;2.3;2.46;2.46;2.24;2.19;2.3;2.4	5.87	-5.15	0.02866	.	0.200055	0.53938	D	0.000058	T	0.29223	0.0727	L	0.47716	1.5	0.80722	D	1	D;B;D;D;D;D;D;D	0.71674	0.997;0.031;0.998;0.998;0.998;0.997;0.998;0.996	P;B;D;D;D;P;D;D	0.81914	0.846;0.027;0.995;0.995;0.995;0.89;0.995;0.99	T	0.06935	-1.0799	10	0.32370	T	0.25	.	10.9325	0.47226	0.3864:0.0988:0.5148:0.0	.	1126;1148;1155;1192;1222;1201;1235;1238	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	E	1222;1148;1238;1235;1201;1126;1192;1178	ENSP00000443147:D1222E;ENSP00000440857:D1148E;ENSP00000363921:D1238E;ENSP00000363920:D1235E;ENSP00000340591:D1201E;ENSP00000363926:D1126E;ENSP00000311986:D1192E;ENSP00000363922:D1178E	ENSP00000340591:D1201E	D	-	3	2	PARD3	34440460	1.000000	0.71417	0.265000	0.24526	0.984000	0.73092	1.278000	0.33179	-0.902000	0.03886	-0.768000	0.03414	GAC	PARD3	-	NULL	ENSG00000148498		0.562	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	97	0.00	0	G	NM_019619		34400454	34400454	-1	no_errors	ENST00000374789	ensembl	human	known	69_37n	missense	169	12.89	25	SNP	0.952	C
PIP5K1C	23396	genome.wustl.edu	37	19	3643289	3643289	+	Missense_Mutation	SNP	G	G	A	rs145403606		TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr19:3643289G>A	ENST00000335312.3	-	13	1689	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.S534F|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.S534F|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.S534F	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	534					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.S534F(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CTCAGGAATGGAGAGGGATGT	0.667																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	dbGAP											1	Substitution - Missense(1)	skin(1)											145.0	129.0	134.0					19																	3643289		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1601C>T	19.37:g.3643289G>A	ENSP00000335333:p.Ser534Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.S534F	ENST00000335312.3	37	c.1601	CCDS32872.1	19	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315405	0.81358	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.29655	1.59;1.6;1.56	4.23	4.23	0.50019	.	0.146385	0.47852	U	0.000208	T	0.43787	0.1263	L	0.42245	1.32	0.53688	D	0.99997	D;P	0.71674	0.998;0.948	D;B	0.63597	0.916;0.312	T	0.20638	-1.0269	10	0.27785	T	0.31	-29.6969	15.5908	0.76526	0.0:0.0:1.0:0.0	.	534;534	O60331-3;O60331	.;PI51C_HUMAN	F	534	ENSP00000335333:S534F;ENSP00000445992:S534F;ENSP00000444779:S534F	ENSP00000335333:S534F	S	-	2	0	PIP5K1C	3594289	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.317000	0.96327	1.912000	0.55364	0.573000	0.79308	TCC	PIP5K1C	-	NULL	ENSG00000186111		0.667	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	237	0.00	0	G	NM_012398		3643289	3643289	-1	no_errors	ENST00000537021	ensembl	human	known	69_37n	missense	114	30.91	51	SNP	1.000	A
PLD5	200150	genome.wustl.edu	37	1	242287770	242287770	+	Splice_Site	SNP	C	C	T			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr1:242287770C>T	ENST00000536534.2	-	6	1174	c.933G>A	c.(931-933)tcG>tcA	p.S311S	PLD5_ENST00000427495.1_Splice_Site_p.S249S|PLD5_ENST00000442594.2_Splice_Site_p.S219S			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	311						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AACAACTCACCGATACAAATG	0.393																																						dbGAP											0													124.0	116.0	119.0					1																	242287770		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.933+1G>A	1.37:g.242287770C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	smart_PLipase_D/transphosphatidylase	p.S311	ENST00000536534.2	37	c.933	CCDS1621.2	1																																																																																			PLD5	-	NULL	ENSG00000180287		0.393	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	285	0.35	1	C	NM_152666	Silent	242287770	242287770	-1	no_errors	ENST00000536534	ensembl	human	known	69_37n	silent	187	21.76	52	SNP	1.000	T
PREX1	57580	genome.wustl.edu	37	20	47296244	47296244	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr20:47296244C>T	ENST00000371941.3	-	12	1506	c.1484G>A	c.(1483-1485)cGc>cAc	p.R495H	PREX1_ENST00000396220.1_Missense_Mutation_p.R495H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	495	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATCGTCGTAGCGGAAGCGATA	0.607																																						dbGAP											0													182.0	138.0	153.0					20																	47296244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1484G>A	20.37:g.47296244C>T	ENSP00000361009:p.Arg495His	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R495H	ENST00000371941.3	37	c.1484	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879760	0.91740	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.14391	2.51;2.51	4.52	4.52	0.55395	DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.52532	U	0.000065	T	0.38134	0.1029	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.40942	-0.9536	10	0.87932	D	0	.	17.2427	0.87017	0.0:1.0:0.0:0.0	.	495	Q8TCU6	PREX1_HUMAN	H	495	ENSP00000361009:R495H;ENSP00000379522:R495H	ENSP00000361009:R495H	R	-	2	0	PREX1	46729651	1.000000	0.71417	0.996000	0.52242	0.641000	0.38312	7.730000	0.84881	2.073000	0.62155	0.442000	0.29010	CGC	PREX1	-	smart_DEP_dom,pfscan_DEP_dom	ENSG00000124126		0.607	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	135	0.00	0	C	NM_020820		47296244	47296244	-1	no_errors	ENST00000371941	ensembl	human	known	69_37n	missense	144	19.44	35	SNP	1.000	T
RB1	5925	genome.wustl.edu	37	13	48934189	48934189	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr13:48934189C>G	ENST00000267163.4	+	7	782	c.644C>G	c.(643-645)tCa>tGa	p.S215*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	215					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.S215*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTGGTGATTTCATTTCAGTTA	0.308		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	22	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(1)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	GRCh37	CM034898	RB1	M							105.0	104.0	104.0					13																	48934189		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.644C>G	13.37:g.48934189C>G	ENSP00000267163:p.Ser215*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.S215*	ENST00000267163.4	37	c.644	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	34	5.373867	0.95923	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.357	0.90361	0.0:1.0:0.0:0.0	.	.	.	.	X	194;215	.	ENSP00000267163:S215X	S	+	2	0	RB1	47832190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.271000	0.65553	2.631000	0.89168	0.650000	0.86243	TCA	RB1	-	pfam_DUF3452_retinoblatoma-assoc	ENSG00000139687		0.308	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	337	0.00	0	C			48934189	48934189	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	nonsense	110	46.60	96	SNP	1.000	G
RNF144A	9781	genome.wustl.edu	37	2	7179763	7179763	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr2:7179763G>A	ENST00000320892.6	+	9	1193	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	251					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CTTCCAGGTTGTGGGCATTTT	0.502																																						dbGAP											0													227.0	213.0	218.0					2																	7179763		2203	4300	6503	-	-	-	SO:0001583	missense	0			D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.751G>A	2.37:g.7179763G>A	ENSP00000321330:p.Val251Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W4Y6|Q585H5	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING	p.V251M	ENST00000320892.6	37	c.751	CCDS1657.1	2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466545	0.84425	.	.	ENSG00000151692	ENST00000320892	T	0.25749	1.78	5.01	5.01	0.66863	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	L	0.49778	1.585	0.80722	D	1	D	0.61697	0.99	D	0.70487	0.969	T	0.45991	-0.9223	10	0.87932	D	0	.	18.7372	0.91759	0.0:0.0:1.0:0.0	.	251	P50876	R144A_HUMAN	M	251	ENSP00000321330:V251M	ENSP00000321330:V251M	V	+	1	0	RNF144A	7097214	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.198000	0.94994	2.486000	0.83907	0.549000	0.68633	GTG	RNF144A	-	NULL	ENSG00000151692		0.502	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF144A	HGNC	protein_coding	OTTHUMT00000206725.2	426	0.00	0	G	NM_014746		7179763	7179763	+1	no_errors	ENST00000320892	ensembl	human	known	69_37n	missense	246	42.92	185	SNP	1.000	A
S1PR2	9294	genome.wustl.edu	37	19	10334727	10334727	+	Silent	SNP	G	G	A	rs202092003		TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr19:10334727G>A	ENST00000590320.1	-	2	965	c.855C>T	c.(853-855)ccC>ccT	p.P285P	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	285					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGTAGATGACGGGGTTGAGCA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		15195	0.001		0.0	False		,,,				2504	0.0				Pancreas(194;229 3020 15179 45747)	dbGAP											0													50.0	49.0	49.0					19																	10334727		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.855C>T	19.37:g.10334727G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UN8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_EDG5_rcpt,prints_7TM_GPCR_Rhodpsn,prints_S1P_rcpt,prints_Melcrt_ACTH_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.P285	ENST00000590320.1	37	c.855	CCDS12229.1	19																																																																																			S1PR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000267534		0.662	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR2	Clone_based_vega_gene	protein_coding	OTTHUMT00000451194.1	105	0.00	0	G	NM_004230		10334727	10334727	-1	no_errors	ENST00000590320	ensembl	human	known	69_37n	silent	84	22.94	25	SNP	0.152	A
SEMA3A	10371	genome.wustl.edu	37	7	83823815	83823815	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr7:83823815G>C	ENST00000265362.4	-	1	402	c.88C>G	c.(88-90)Cca>Gca	p.P30A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.P30A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	30					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTCAGCCTTGGCACATTGTTC	0.423																																						dbGAP											0													194.0	192.0	193.0					7																	83823815		2203	4300	6503	-	-	-	SO:0001583	missense	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.88C>G	7.37:g.83823815G>C	ENSP00000265362:p.Pro30Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.P30A	ENST00000265362.4	37	c.88	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	G	13.09	2.131880	0.37630	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047;ENST00000448879	T;T;T	0.22134	1.97;1.97;1.97	5.64	4.76	0.60689	Semaphorin/CD100 antigen (1);	0.276733	0.41500	D	0.000867	T	0.29652	0.0740	M	0.73217	2.22	0.49915	D	0.999837	P	0.47604	0.898	B	0.43754	0.43	T	0.11036	-1.0604	10	0.51188	T	0.08	.	14.8856	0.70567	0.0691:0.0:0.9309:0.0	.	30	Q14563	SEM3A_HUMAN	A	30	ENSP00000265362:P30A;ENSP00000415260:P30A;ENSP00000391900:P30A	ENSP00000265362:P30A	P	-	1	0	SEMA3A	83661751	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.918000	0.75788	1.399000	0.46721	0.650000	0.86243	CCA	SEMA3A	-	superfamily_Semaphorin/CD100_Ag	ENSG00000075213		0.423	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	385	0.26	1	G	NM_006080		83823815	83823815	-1	no_errors	ENST00000265362	ensembl	human	known	69_37n	missense	316	22.93	94	SNP	1.000	C
SPDEF	25803	genome.wustl.edu	37	6	34506131	34506131	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr6:34506131G>A	ENST00000374037.3	-	6	1342	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	SPDEF_ENST00000544425.1_Missense_Mutation_p.R294C	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	310					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						TAATACTGGCGGATGGAGCGG	0.602																																						dbGAP											0													188.0	174.0	179.0					6																	34506131		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.928C>T	6.37:g.34506131G>A	ENSP00000363149:p.Arg310Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWH8|F5H778	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.R310C	ENST00000374037.3	37	c.928	CCDS4794.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.543524	0.96474	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.72051	-0.62;-0.62	5.55	5.55	0.83447	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	D	0.88919	0.6568	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91925	0.5550	10	0.87932	D	0	.	19.4973	0.95079	0.0:0.0:1.0:0.0	.	294;310	F5H778;O95238	.;SPDEF_HUMAN	C	310;294	ENSP00000363149:R310C;ENSP00000442715:R294C	ENSP00000363149:R310C	R	-	1	0	SPDEF	34614109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.853000	0.99521	2.608000	0.88229	0.655000	0.94253	CGC	SPDEF	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000124664		0.602	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDEF	HGNC	protein_coding	OTTHUMT00000040246.1	291	0.34	1	G	NM_012391		34506131	34506131	-1	no_errors	ENST00000374037	ensembl	human	known	69_37n	missense	146	40.49	100	SNP	1.000	A
SPTA1	6708	genome.wustl.edu	37	1	158615165	158615165	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr1:158615165G>A	ENST00000368147.4	-	29	4187	c.4007C>T	c.(4006-4008)gCt>gTt	p.A1336V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1336					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCCATGTCAGCACGGTGCTC	0.483																																						dbGAP											0													61.0	59.0	60.0					1																	158615165		1909	4143	6052	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4007C>T	1.37:g.158615165G>A	ENSP00000357129:p.Ala1336Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.A1336V	ENST00000368147.4	37	c.4007	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987833	0.35036	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55588	0.51;0.51	5.06	-0.746	0.11095	.	.	.	.	.	T	0.18173	0.0436	L	0.43152	1.355	0.24812	N	0.992633	B	0.09022	0.002	B	0.21151	0.033	T	0.24512	-1.0158	9	0.33141	T	0.24	.	3.3538	0.07162	0.152:0.1061:0.4946:0.2473	.	1336	P02549	SPTA1_HUMAN	V	1336	ENSP00000357130:A1336V;ENSP00000357129:A1336V	ENSP00000357129:A1336V	A	-	2	0	SPTA1	156881789	1.000000	0.71417	0.669000	0.29828	0.455000	0.32408	1.778000	0.38614	0.027000	0.15297	0.650000	0.86243	GCT	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	166	0.00	0	G	NM_003126		158615165	158615165	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	110	31.25	50	SNP	0.950	A
STIM1	6786	genome.wustl.edu	37	11	4091418	4091418	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr11:4091418A>G	ENST00000300737.4	+	6	1345	c.776A>G	c.(775-777)cAt>cGt	p.H259R	STIM1_ENST00000533977.1_Missense_Mutation_p.H86R|STIM1_ENST00000527651.1_Missense_Mutation_p.H259R	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	259					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CAGAGTCTGCATGACCTTCAG	0.547																																						dbGAP											0													126.0	110.0	115.0					11																	4091418		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.776A>G	11.37:g.4091418A>G	ENSP00000300737:p.His259Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQJ4|Q8N382	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.H259R	ENST00000300737.4	37	c.776	CCDS7749.1	11	.	.	.	.	.	.	.	.	.	.	A	16.74	3.205698	0.58234	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	T;T;T	0.76709	-0.08;-1.04;-0.08	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	N	0.03115	-0.41	0.80722	D	1	B;D	0.71674	0.0;0.998	B;P	0.59115	0.001;0.852	T	0.66783	-0.5836	10	0.06891	T	0.86	-14.189	15.005	0.71504	1.0:0.0:0.0:0.0	.	259;259	E9PQJ4;Q13586	.;STIM1_HUMAN	R	259;259;86	ENSP00000300737:H259R;ENSP00000436208:H259R;ENSP00000434767:H86R	ENSP00000300737:H259R	H	+	2	0	STIM1	4047994	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.883000	0.56168	2.224000	0.72417	0.459000	0.35465	CAT	STIM1	-	NULL	ENSG00000167323		0.547	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIM1	HGNC	protein_coding	OTTHUMT00000257196.1	229	0.00	0	A	NM_003156		4091418	4091418	+1	no_errors	ENST00000300737	ensembl	human	known	69_37n	missense	193	23.11	58	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr17:7574003delG	ENST00000269305.4	-	10	1213	c.1024delC	c.(1024-1026)cgafs	p.R342fs	TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000413465.2_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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	GRCh37	CM004908	TP53	M							62.0	48.0	53.0					17																	7574003		2203	4300	6503	-	-	-	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.1024delC	17.37:g.7574003delG	ENSP00000269305:p.Arg342fs	Somatic		WXS	Illumina GAIIx	Phase_IV	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_Del	DEL	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.R342fs	ENST00000269305.4	37	c.1024	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	108	0.00	0	G	NM_000546		7574003	7574003	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	53	26.03	19	DEL	0.307	-
WWP2	11060	genome.wustl.edu	37	16	69972999	69972999	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr16:69972999delC	ENST00000359154.2	+	22	2514	c.2413delC	c.(2413-2415)cccfs	p.P805fs	WWP2_ENST00000542271.1_Frame_Shift_Del_p.P689fs|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Frame_Shift_Del_p.P805fs|WWP2_ENST00000356003.2_Frame_Shift_Del_p.P805fs|WWP2_ENST00000568684.1_Frame_Shift_Del_p.P366fs	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	805	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGCCGCCTGCCCGTCGGGGG	0.602																																						dbGAP											0													80.0	63.0	68.0					16																	69972999		2196	4300	6496	-	-	-	SO:0001589	frameshift_variant	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2413delC	16.37:g.69972999delC	ENSP00000352069:p.Pro805fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Frame_Shift_Del	DEL	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.V806fs	ENST00000359154.2	37	c.2413	CCDS10885.1	16																																																																																			WWP2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000198373		0.602	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	225	0.00	0	C	NM_007014		69972999	69972999	+1	no_errors	ENST00000356003	ensembl	human	known	69_37n	frame_shift_del	109	33.33	56	DEL	1.000	-
ZBTB33	10009	genome.wustl.edu	37	X	119389284	119389285	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chrX:119389284_119389285insTA	ENST00000326624.2	+	2	2242_2243	c.2014_2015insTA	c.(2014-2016)tacfs	p.Y672fs	ZBTB33_ENST00000557385.1_Frame_Shift_Ins_p.Y672fs	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	672	Interaction with CTNND1. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACCAGAGTCTTACTAAACTCCT	0.327																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	Exception_encountered	X.37:g.119389284_119389285insTA	ENSP00000314153:p.Tyr672fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Frame_Shift_Ins	INS	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Y672fs	ENST00000326624.2	37	c.2014_2015	CCDS14596.1	X																																																																																			ZBTB33	-	NULL	ENSG00000177485		0.327	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	HGNC	protein_coding	OTTHUMT00000058085.2	49	0.00	0	-	NM_006777		119389284	119389285	+1	no_errors	ENST00000326624	ensembl	human	known	69_37n	frame_shift_ins	20	23.08	6	INS	1.000:1.000	TA
ZFP36L2	678	genome.wustl.edu	37	2	43452831	43452832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr2:43452831_43452832insC	ENST00000282388.3	-	2	404_405	c.111_112insG	c.(109-114)gggacgfs	p.T38fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	38					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCCACAGGCGTCCCCACCGCCT	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.112dupG	2.37:g.43452835_43452835dupC	ENSP00000282388:p.Thr38fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.T37fs	ENST00000282388.3	37	c.112_111	CCDS1811.1	2																																																																																			ZFP36L2	-	pfam_Tis11B_N	ENSG00000152518		0.663	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	17	0.00	0	-	NM_006887		43452831	43452832	-1	no_errors	ENST00000282388	ensembl	human	known	69_37n	frame_shift_ins	12	20.00	3	INS	1.000:0.993	C
ZNF726	730087	genome.wustl.edu	37	19	24116016	24116016	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AQ-01A-11D-A12Q-09	TCGA-AR-A1AQ-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	88ff7728-ecc9-4ec5-817e-4793619ab5a4	3f1960e3-339f-42e6-a925-fa21d1d6e2a5	g.chr19:24116016G>C	ENST00000594466.1	+	4	1203	c.1098G>C	c.(1096-1098)gaG>gaC	p.E366D	ZNF726_ENST00000334589.5_Intron|CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000575986.1_Intron|ZNF726_ENST00000322487.7_Missense_Mutation_p.E366D	NM_001244038.1	NP_001230967.1	A6NNF4	ZN726_HUMAN	zinc finger protein 726	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATACTGGAGAGAAACCCTACA	0.418																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			DQ036016, BC046415	CCDS59372.1	19p12	2013-01-08			ENSG00000213967	ENSG00000213967		"""Zinc fingers, C2H2-type"", ""-"""	32462	protein-coding gene	gene with protein product							Standard	NM_001244038		Approved		uc021urw.1	A6NNF4	OTTHUMG00000167681	ENST00000594466.1:c.1098G>C	19.37:g.24116016G>C	ENSP00000471516:p.Glu366Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	M0R0X8|Q86Y87	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.E366D	ENST00000594466.1	37	c.1098	CCDS59372.1	19	.	.	.	.	.	.	.	.	.	.	g	4.016	0.000417	0.07819	.	.	ENSG00000213967	ENST00000322487	T	0.26810	1.71	0.814	0.814	0.18756	.	.	.	.	.	T	0.26919	0.0659	.	.	.	0.23304	N	0.997946	.	.	.	.	.	.	T	0.24048	-1.0171	6	0.66056	D	0.02	.	6.9774	0.24683	0.0:0.0:1.0:0.0	.	.	.	.	D	366	ENSP00000317125:E366D	ENSP00000317125:E366D	E	+	3	2	ZNF726	23907856	1.000000	0.71417	0.640000	0.29408	0.641000	0.38312	1.685000	0.37659	0.183000	0.20059	0.186000	0.17326	GAG	ZNF726	-	pfscan_Znf_C2H2	ENSG00000213967		0.418	ZNF726-005	PUTATIVE	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF726	HGNC	protein_coding	OTTHUMT00000466443.1	76	0.00	0	G	XM_001715134		24116016	24116016	+1	no_errors	ENST00000322487	ensembl	human	known	69_37n	missense	47	26.56	17	SNP	1.000	C
