#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
ATXN1	6310	genome.wustl.edu	37	6	16327705	16327705	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr6:16327705G>C	ENST00000244769.4	-	8	1773	c.837C>G	c.(835-837)caC>caG	p.H279Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H279Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	279					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGGTGAGCGTGTGTGGGATCA	0.652																																						dbGAP											0													35.0	38.0	37.0					6																	16327705		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.837C>G	6.37:g.16327705G>C	ENSP00000244769:p.His279Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.H279Q	ENST00000244769.4	37	c.837	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824855	0.50739	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.28454	1.61;1.61	4.98	4.98	0.66077	.	0.051594	0.85682	D	0.000000	T	0.21103	0.0508	L	0.54323	1.7	0.45594	D	0.998539	D	0.54397	0.966	P	0.44860	0.462	T	0.02813	-1.1107	10	0.51188	T	0.08	-22.9587	11.7145	0.51643	0.0815:0.0:0.9185:0.0	.	279	P54253	ATX1_HUMAN	Q	279	ENSP00000244769:H279Q;ENSP00000416360:H279Q	ENSP00000244769:H279Q	H	-	3	2	ATXN1	16435684	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	2.162000	0.42367	2.293000	0.77203	0.462000	0.41574	CAC	ATXN1	-	NULL	ENSG00000124788		0.652	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	56	0.00	0	G	NM_000332		16327705	16327705	-1	no_errors	ENST00000244769	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	1.000	C
CES2	8824	genome.wustl.edu	37	16	66974233	66974233	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr16:66974233C>T	ENST00000317091.4	+	4	1708	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Missense_Mutation_p.R242C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	178					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	CATCCAGTACCGCCTGGGTGT	0.607																																					Ovarian(70;1230 1691 37888 38351)	dbGAP											0													213.0	174.0	187.0					16																	66974233		2200	4300	6500	-	-	-	SO:0001583	missense	0			BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.724C>T	16.37:g.66974233C>T	ENSP00000317842:p.Arg242Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.R242C	ENST00000317091.4	37	c.724	CCDS10825.1	16	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382393	0.82792	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	D;D	0.90788	-2.73;-2.73	5.29	3.22	0.36961	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000005	D	0.96975	0.9012	H	0.99642	4.675	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95221	0.8334	10	0.87932	D	0	.	6.2758	0.20979	0.2945:0.6123:0.0:0.0932	.	178;242	O00748;A8K367	EST2_HUMAN;.	C	242	ENSP00000394452:R242C;ENSP00000317842:R242C	ENSP00000317842:R242C	R	+	1	0	CES2	65531734	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.835000	0.27531	1.475000	0.48197	0.650000	0.86243	CGC	CES2	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000172831		0.607	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES2	HGNC	protein_coding	OTTHUMT00000268838.2	406	0.00	0	C	NM_003869		66974233	66974233	+1	no_errors	ENST00000317091	ensembl	human	known	69_37n	missense	131	53.68	153	SNP	1.000	T
DNAJC13	23317	genome.wustl.edu	37	3	132166751	132166751	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr3:132166751A>G	ENST00000260818.6	+	5	552	c.304A>G	c.(304-306)Act>Gct	p.T102A	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	102					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAGATTTAGAACTGATTTTTC	0.318																																						dbGAP											0													104.0	101.0	102.0					3																	132166751		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.304A>G	3.37:g.132166751A>G	ENSP00000260818:p.Thr102Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.T102A	ENST00000260818.6	37	c.304	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	A	9.572	1.121339	0.20877	.	.	ENSG00000138246	ENST00000260818	T	0.17213	2.29	5.59	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	N	0.11560	0.145	0.53688	D	0.999977	B;P	0.42735	0.001;0.788	B;B	0.38985	0.002;0.287	T	0.19484	-1.0304	10	0.08837	T	0.75	.	12.3175	0.54966	0.8732:0.0:0.0:0.1268	.	102;102	A7E2Y5;O75165	.;DJC13_HUMAN	A	102	ENSP00000260818:T102A	ENSP00000260818:T102A	T	+	1	0	DNAJC13	133649441	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.353000	0.90077	1.030000	0.39839	0.533000	0.62120	ACT	DNAJC13	-	NULL	ENSG00000138246		0.318	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	210	0.00	0	A	NM_015268		132166751	132166751	+1	no_errors	ENST00000260818	ensembl	human	known	69_37n	missense	191	30.58	85	SNP	1.000	G
EPPK1	83481	genome.wustl.edu	37	8	144945136	144945136	+	Silent	SNP	G	G	A			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr8:144945136G>A	ENST00000525985.1	-	2	2357	c.2286C>T	c.(2284-2286)gaC>gaT	p.D762D				P58107	EPIPL_HUMAN	epiplakin 1	762						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTGGTGTCGTCAGAAGGGT	0.627																																						dbGAP											0													109.0	119.0	115.0					8																	144945136		2116	4224	6340	-	-	-	SO:0001819	synonymous_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2286C>T	8.37:g.144945136G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.D762	ENST00000525985.1	37	c.2286		8																																																																																			EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	117	0.00	0	G	NM_031308		144945136	144945136	-1	no_errors	ENST00000525985	ensembl	human	known	69_37n	silent	173	16.43	34	SNP	0.975	A
GDF2	2658	genome.wustl.edu	37	10	48413719	48413719	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr10:48413719C>A	ENST00000249598.1	-	2	1308	c.1149G>T	c.(1147-1149)aaG>aaT	p.K383N		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	383					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTGTGGGGAACTTGAGATGCA	0.582																																						dbGAP											0													120.0	96.0	104.0					10																	48413719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.1149G>T	10.37:g.48413719C>A	ENSP00000249598:p.Lys383Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSQ9|Q9Y571	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.K383N	ENST00000249598.1	37	c.1149	CCDS7219.1	10	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269215	0.59540	.	.	ENSG00000128802	ENST00000249598	D	0.88818	-2.43	5.52	2.25	0.28309	Transforming growth factor-beta, C-terminal (3);	0.177236	0.64402	D	0.000013	D	0.86732	0.6003	L	0.38733	1.17	0.39207	D	0.963243	D	0.60160	0.987	P	0.58130	0.833	T	0.83247	-0.0055	10	0.35671	T	0.21	.	5.3738	0.16154	0.0:0.4722:0.0:0.5278	.	383	Q9UK05	GDF2_HUMAN	N	383	ENSP00000249598:K383N	ENSP00000249598:K383N	K	-	3	2	GDF2	48033725	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.467000	0.22035	0.696000	0.31696	0.585000	0.79938	AAG	GDF2	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000128802		0.582	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	HGNC	protein_coding	OTTHUMT00000047891.1	98	0.00	0	C	NM_016204		48413719	48413719	-1	no_errors	ENST00000249598	ensembl	human	known	69_37n	missense	32	56.76	42	SNP	0.999	A
MAPK6	5597	genome.wustl.edu	37	15	52350913	52350913	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr15:52350913G>C	ENST00000261845.5	+	4	1591	c.784G>C	c.(784-786)Gta>Cta	p.V262L	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GCTTCTCAGCGTAATTCCAGT	0.408																																						dbGAP											0													74.0	65.0	68.0					15																	52350913		2195	4293	6488	-	-	-	SO:0001583	missense	0			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.784G>C	15.37:g.52350913G>C	ENSP00000261845:p.Val262Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK3/4	p.V262L	ENST00000261845.5	37	c.784	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.182966	0.94885	.	.	ENSG00000069956	ENST00000261845	T	0.39056	1.1	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	N	0.13198	0.31	0.80722	D	1	D	0.53312	0.959	D	0.69824	0.966	T	0.53244	-0.8466	10	0.44086	T	0.13	-10.6822	18.9667	0.92700	0.0:0.0:1.0:0.0	.	262	Q16659	MK06_HUMAN	L	262	ENSP00000261845:V262L	ENSP00000261845:V262L	V	+	1	0	MAPK6	50138205	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.857000	0.99534	2.503000	0.84419	0.460000	0.39030	GTA	MAPK6	-	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,prints_MAPK_ERK3/4	ENSG00000069956		0.408	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	HGNC	protein_coding	OTTHUMT00000254841.2	83	0.00	0	G	NM_002748		52350913	52350913	+1	no_errors	ENST00000261845	ensembl	human	known	69_37n	missense	95	15.93	18	SNP	1.000	C
MON2	23041	genome.wustl.edu	37	12	62965209	62965209	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr12:62965209C>G	ENST00000393632.2	+	30	4752	c.4361C>G	c.(4360-4362)cCt>cGt	p.P1454R	MON2_ENST00000280379.6_Missense_Mutation_p.P1455R|MON2_ENST00000552738.1_Missense_Mutation_p.P1425R|MON2_ENST00000393629.2_Missense_Mutation_p.P1448R|MON2_ENST00000546600.1_Missense_Mutation_p.P1454R|MON2_ENST00000393630.3_Missense_Mutation_p.P1455R	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1454					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TATTCCTGCCCTTCTGAAAGC	0.383																																						dbGAP											0													128.0	134.0	132.0					12																	62965209		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4361C>G	12.37:g.62965209C>G	ENSP00000377252:p.Pro1454Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold	p.P1455R	ENST00000393632.2	37	c.4364	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607385	0.87157	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.75213	0.3819	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.76494	0.991;0.99;0.99;0.999;0.995	P;P;P;D;P	0.72625	0.762;0.828;0.828;0.978;0.88	T	0.72704	-0.4213	9	.	.	.	-15.383	19.3649	0.94458	0.0:1.0:0.0:0.0	.	1448;1425;1454;323;1454	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	R	1454;1455;1455;1454;1425;1448	ENSP00000377252:P1454R;ENSP00000377250:P1455R;ENSP00000280379:P1455R;ENSP00000447407:P1454R;ENSP00000449215:P1425R;ENSP00000377249:P1448R	.	P	+	2	0	MON2	61251476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.575000	0.86900	0.650000	0.86243	CCT	MON2	-	superfamily_ARM-type_fold	ENSG00000061987		0.383	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	126	0.00	0	C	NM_015026		62965209	62965209	+1	no_errors	ENST00000393630	ensembl	human	known	69_37n	missense	72	40.65	50	SNP	1.000	G
MOV10	4343	genome.wustl.edu	37	1	113231673	113231673	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr1:113231673T>G	ENST00000413052.2	+	3	644	c.254T>G	c.(253-255)gTg>gGg	p.V85G	MOV10_ENST00000369645.1_Missense_Mutation_p.V85G|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.V29G|MOV10_ENST00000357443.2_Missense_Mutation_p.V85G	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	85					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGGGCCGACGTGCGGTTCCCA	0.512																																						dbGAP											0													89.0	89.0	89.0					1																	113231673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.254T>G	1.37:g.113231673T>G	ENSP00000399797:p.Val85Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.V85G	ENST00000413052.2	37	c.254	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622607	0.46840	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	4.94	-0.114	0.13564	.	1.077960	0.07017	N	0.826143	D	0.84142	0.5407	N	0.24115	0.695	0.09310	N	0.999996	B;D;B	0.65815	0.118;0.995;0.003	B;P;B	0.61003	0.025;0.882;0.003	T	0.75388	-0.3335	10	0.49607	T	0.09	-2.858	3.1834	0.06592	0.1754:0.292:0.0:0.5326	.	29;85;85	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	G	85;85;85;29;85;58	ENSP00000399797:V85G;ENSP00000358659:V85G;ENSP00000358658:V29G;ENSP00000350028:V85G	ENSP00000285733:V85G	V	+	2	0	MOV10	113033196	0.000000	0.05858	0.130000	0.21974	0.979000	0.70002	-1.245000	0.02899	0.013000	0.14918	0.459000	0.35465	GTG	MOV10	-	NULL	ENSG00000155363		0.512	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	132	0.00	0	T	NM_020963		113231673	113231673	+1	no_errors	ENST00000357443	ensembl	human	known	69_37n	missense	106	25.69	37	SNP	0.004	G
MSR1	4481	genome.wustl.edu	37	8	16035439	16035439	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr8:16035439G>T	ENST00000262101.5	-	2	180	c.59C>A	c.(58-60)tCt>tAt	p.S20Y	MSR1_ENST00000445506.2_Missense_Mutation_p.S38Y|MSR1_ENST00000355282.2_Missense_Mutation_p.S20Y|MSR1_ENST00000536385.1_De_novo_Start_InFrame|MSR1_ENST00000350896.3_Missense_Mutation_p.S20Y|MSR1_ENST00000381998.4_Missense_Mutation_p.S20Y			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	20					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AAATTTCACAGATTCGGAGCA	0.423																																						dbGAP											0													87.0	80.0	82.0					8																	16035439		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.59C>A	8.37:g.16035439G>T	ENSP00000262101:p.Ser20Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.S20Y	ENST00000262101.5	37	c.59	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621861	0.66787	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998;ENST00000518960;ENST00000518026	D;D;D;D;D;T;T	0.92446	-2.65;-2.37;-2.38;-2.65;-3.04;0.76;0.48	5.36	5.36	0.76844	Macrophage scavenger receptor (1);	0.000000	0.52532	D	0.000080	D	0.95303	0.8476	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.67145	0.989;0.996;0.993;0.994	P;D;P;P	0.65874	0.726;0.939;0.858;0.87	D	0.95468	0.8549	10	0.87932	D	0	.	15.016	0.71584	0.0:0.0:1.0:0.0	.	38;20;20;20	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	Y	20;20;38;20;20;20;31	ENSP00000262100:S20Y;ENSP00000262101:S20Y;ENSP00000405453:S38Y;ENSP00000347430:S20Y;ENSP00000371428:S20Y;ENSP00000427905:S20Y;ENSP00000429498:S31Y	ENSP00000262101:S20Y	S	-	2	0	MSR1	16079810	0.999000	0.42202	0.996000	0.52242	0.621000	0.37620	2.926000	0.48892	2.703000	0.92315	0.543000	0.68304	TCT	MSR1	-	prints_Macro_scav_rcpt	ENSG00000038945		0.423	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2	85	0.00	0	G			16035439	16035439	-1	no_errors	ENST00000262101	ensembl	human	known	69_37n	missense	189	39.03	121	SNP	0.999	T
NKX2-8	26257	genome.wustl.edu	37	14	37051569	37051569	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr14:37051569delA	ENST00000258829.5	-	1	243	c.26delT	c.(25-27)ttcfs	p.F9fs		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	9					axonogenesis (GO:0007409)|liver development (GO:0001889)|lung development (GO:0030324)|negative regulation of epithelial cell proliferation (GO:0050680)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		GCGCACGGTGAAGCTCAGGCG	0.726																																						dbGAP											0													23.0	25.0	24.0					14																	37051569		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0				CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327		"""Homeoboxes / ANTP class : NKL subclass"""	16364	protein-coding gene	gene with protein product		603245	"""NK-2 homolog H (Drosophila)"", ""NK2 transcription factor related, locus 8 (Drosophila)"""	NKX2H		9446603	Standard	NM_014360		Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.26delT	14.37:g.37051569delA	ENSP00000258829:p.Phe9fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUT7	Frame_Shift_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.F9fs	ENST00000258829.5	37	c.26	CCDS9660.1	14																																																																																			NKX2-8	-	NULL	ENSG00000136327		0.726	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-8	HGNC	protein_coding	OTTHUMT00000071844.6	33	0.00	0	A			37051569	37051569	-1	no_errors	ENST00000258829	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	1.000	-
OFD1	8481	genome.wustl.edu	37	X	13781897	13781897	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chrX:13781897G>T	ENST00000340096.6	+	19	2849	c.2522G>T	c.(2521-2523)gGc>gTc	p.G841V	OFD1_ENST00000380567.1_Missense_Mutation_p.G701V|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.G801V	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	841	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTGGAAATGGGCGGGCTTTCT	0.502																																						dbGAP											0													166.0	155.0	159.0					X																	13781897		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2522G>T	X.37:g.13781897G>T	ENSP00000344314:p.Gly841Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.G841V	ENST00000340096.6	37	c.2522	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447503	0.26074	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.95788	-3.81;-3.8;-1.68	5.76	3.34	0.38264	.	0.623793	0.16785	N	0.199605	D	0.84781	0.5548	N	0.08118	0	0.09310	N	0.999995	P;B;P	0.41265	0.744;0.058;0.744	B;B;B	0.31686	0.134;0.006;0.134	T	0.77472	-0.2575	10	0.34782	T	0.22	-5.803	5.3214	0.15883	0.7329:0.1752:0.0919:0.0	.	841;801;841	A8K2T9;O75665-3;O75665	.;.;OFD1_HUMAN	V	801;841;701	ENSP00000369923:G801V;ENSP00000344314:G841V;ENSP00000369941:G701V	ENSP00000344314:G841V	G	+	2	0	OFD1	13691818	0.662000	0.27439	0.000000	0.03702	0.001000	0.01503	3.265000	0.51561	0.301000	0.22738	-1.232000	0.01568	GGC	OFD1	-	NULL	ENSG00000046651		0.502	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	138	0.00	0	G	NM_003611		13781897	13781897	+1	no_errors	ENST00000340096	ensembl	human	known	69_37n	missense	133	14.19	22	SNP	0.002	T
PIK3CA	5290	genome.wustl.edu	37	3	178922325	178922325	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr3:178922325A>T	ENST00000263967.3	+	6	1251	c.1094A>T	c.(1093-1095)gAa>gTa	p.E365V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	365	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATGGAGGAGAACCCTTATGT	0.343		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0													224.0	183.0	196.0					3																	178922325		1845	4097	5942	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1094A>T	3.37:g.178922325A>T	ENSP00000263967:p.Glu365Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E365V	ENST00000263967.3	37	c.1094	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662837	0.88251	.	.	ENSG00000121879	ENST00000263967	T	0.72505	-0.66	5.53	5.53	0.82687	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	D	0.82820	0.5120	M	0.81942	2.565	0.80722	D	1	D	0.58970	0.984	P	0.60236	0.871	D	0.85076	0.0943	10	0.59425	D	0.04	-11.3698	15.63	0.76899	1.0:0.0:0.0:0.0	.	365	P42336	PK3CA_HUMAN	V	365	ENSP00000263967:E365V	ENSP00000263967:E365V	E	+	2	0	PIK3CA	180405019	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.819000	0.91997	2.100000	0.63781	0.533000	0.62120	GAA	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	204	0.00	0	A			178922325	178922325	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	214	26.62	78	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	92	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	90	25.62	31	SNP	1.000	G
PLLP	51090	genome.wustl.edu	37	16	57290919	57290921	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	ATC	ATC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr16:57290919_57290921delATC	ENST00000219207.5	-	4	599_601	c.453_455delGAT	c.(451-456)atgatc>atc	p.M151del	PLLP_ENST00000569059.1_In_Frame_Del_p.M93del	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	151	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				ion transport (GO:0006811)|myelination (GO:0042552)|response to wounding (GO:0009611)	compact myelin (GO:0043218)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)				endometrium(1)|prostate(1)	2						TCCATAGGCGATCATCACCAAAC	0.567																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF137386	CCDS10777.1	16q13	2010-06-24	2010-06-24	2005-03-21	ENSG00000102934	ENSG00000102934			18553	protein-coding gene	gene with protein product	"""plasma membrane proteolipid"""	600340	"""transmembrane 4 superfamily member 11 (plasmolipin)"", ""plasma membrane proteolipid (plasmolipin)"""	TM4SF11		11707781	Standard	NM_015993		Approved	PMLP	uc002elg.2	Q9Y342	OTTHUMG00000133465	ENST00000219207.5:c.453_455delGAT	16.37:g.57290922_57290924delATC	ENSP00000219207:p.Met151del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9T6	In_Frame_Del	DEL	pfam_MARVEL-like_dom,prints_MAL	p.M151in_frame_del	ENST00000219207.5	37	c.455_453	CCDS10777.1	16																																																																																			PLLP	-	pfam_MARVEL-like_dom,prints_MAL	ENSG00000102934		0.567	PLLP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLLP	HGNC	protein_coding	OTTHUMT00000257341.2	53	0.00	0	ATC			57290919	57290921	-1	no_errors	ENST00000219207	ensembl	human	known	69_37n	in_frame_del	36	10.00	4	DEL	0.997:1.000:1.000	-
PLXNA1	5361	genome.wustl.edu	37	3	126730837	126730837	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr3:126730837G>A	ENST00000393409.2	+	9	2149	c.2149G>A	c.(2149-2151)Gtg>Atg	p.V717M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.V694M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	717					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCAGATCTACGTGCCAGTGGG	0.622																																						dbGAP											0													104.0	95.0	98.0					3																	126730837		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2149G>A	3.37:g.126730837G>A	ENSP00000377061:p.Val717Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V717M	ENST00000393409.2	37	c.2149	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860209	0.32884	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11385	2.78;2.78	3.87	2.99	0.34606	.	0.277729	0.25272	N	0.031868	T	0.07098	0.0180	L	0.41492	1.28	0.43678	D	0.996118	P	0.35612	0.512	B	0.29267	0.1	T	0.34403	-0.9830	10	0.35671	T	0.21	.	4.8312	0.13441	0.4128:0.0:0.5871:0.0	.	717	Q9UIW2	PLXA1_HUMAN	M	717;694	ENSP00000377061:V717M;ENSP00000251772:V694M	ENSP00000251772:V694M	V	+	1	0	PLXNA1	128213527	1.000000	0.71417	0.980000	0.43619	0.635000	0.38103	3.653000	0.54446	0.841000	0.35020	0.491000	0.48974	GTG	PLXNA1	-	NULL	ENSG00000114554		0.622	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	44	0.00	0	G	NM_032242		126730837	126730837	+1	no_errors	ENST00000393409	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	0.998	A
POLA2	23649	genome.wustl.edu	37	11	65064614	65064614	+	Silent	SNP	G	G	A			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr11:65064614G>A	ENST00000265465.3	+	18	2202	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	557					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GTGTCTGTGTGAACCCTGGGC	0.597																																						dbGAP											0													99.0	97.0	98.0					11																	65064614		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1671G>A	11.37:g.65064614G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNB4|Q9BPV3	Silent	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.V557	ENST00000265465.3	37	c.1671	CCDS8098.1	11																																																																																			POLA2	-	pirsf_DNA_pol_alpha_bsu	ENSG00000014138		0.597	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	82	0.00	0	G	NM_002689		65064614	65064614	+1	no_errors	ENST00000265465	ensembl	human	known	69_37n	silent	60	39.39	39	SNP	1.000	A
PPIL4	85313	genome.wustl.edu	37	6	149847870	149847870	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr6:149847870C>T	ENST00000253329.2	-	8	753	c.721G>A	c.(721-723)Gta>Ata	p.V241I		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	241	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		ACAAACAGTACATTTTCTGGA	0.338																																						dbGAP											0													114.0	105.0	108.0					6																	149847870		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.721G>A	6.37:g.149847870C>T	ENSP00000253329:p.Val241Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD34|Q7Z3Q5	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.V241I	ENST00000253329.2	37	c.721	CCDS34550.1	6	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465104	0.84425	.	.	ENSG00000131013	ENST00000253329	T	0.74421	-0.84	5.96	5.96	0.96718	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	L	0.31664	0.95	0.80722	D	1	P;P	0.46621	0.881;0.816	P;B	0.45037	0.467;0.152	T	0.66200	-0.5983	10	0.48119	T	0.1	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	241;241	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	I	241	ENSP00000253329:V241I	ENSP00000253329:V241I	V	-	1	0	PPIL4	149889563	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	2.832000	0.97577	0.655000	0.94253	GTA	PPIL4	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000131013		0.338	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL4	HGNC	protein_coding	OTTHUMT00000042642.1	161	0.00	0	C			149847870	149847870	-1	no_errors	ENST00000253329	ensembl	human	known	69_37n	missense	167	19.32	40	SNP	1.000	T
PPM1F	9647	genome.wustl.edu	37	22	22277563	22277563	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr22:22277563C>T	ENST00000263212.5	-	8	1372	c.1267G>A	c.(1267-1269)Ggg>Agg	p.G423R	PPM1F_ENST00000407142.1_Missense_Mutation_p.G255R|PPM1F_ENST00000538191.1_Missense_Mutation_p.G319R	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	423					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCCTGGTTCCCGCCCTCCAGC	0.667																																						dbGAP											0													49.0	58.0	55.0					22																	22277563		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1267G>A	22.37:g.22277563C>T	ENSP00000263212:p.Gly423Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.G423R	ENST00000263212.5	37	c.1267	CCDS13796.1	22	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072464	0.36566	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191	T;T;T	0.16743	2.54;2.32;2.57	5.05	-5.47	0.02600	.	1.395630	0.05360	N	0.533405	T	0.08626	0.0214	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.34279	-0.9835	10	0.27785	T	0.31	-12.1724	1.1176	0.01718	0.3039:0.2042:0.0977:0.3942	.	319;423	B7Z2C3;P49593	.;PPM1F_HUMAN	R	423;255;255;319	ENSP00000263212:G423R;ENSP00000384930:G255R;ENSP00000439915:G319R	ENSP00000263212:G423R	G	-	1	0	PPM1F	20607563	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.005000	0.03674	-0.623000	0.05618	-0.136000	0.14681	GGG	PPM1F	-	NULL	ENSG00000100034		0.667	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	21	0.00	0	C	NM_014634		22277563	22277563	-1	no_errors	ENST00000263212	ensembl	human	known	69_37n	missense	13	48.00	12	SNP	0.000	T
PRICKLE3	4007	genome.wustl.edu	37	X	49040116	49040117	+	Intron	DEL	GT	GT	-			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chrX:49040116_49040117delGT	ENST00000376317.3	-	3	407				PRICKLE3_ENST00000538114.1_Frame_Shift_Del_p.T128fs|PRICKLE3_ENST00000540849.1_Intron|PRICKLE3_ENST00000536904.1_Frame_Shift_Del_p.T60fs|PRICKLE3_ENST00000376310.3_Intron	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)								zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TCCCACCTGAGTGTGTGTGTGT	0.604																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.312+69AC>-	X.37:g.49040126_49040127delGT		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8F2|O76007|Q53XR5	Frame_Shift_Del	DEL	pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM	p.T60fs	ENST00000376317.3	37	c.179_178	CCDS14320.1	X																																																																																			PRICKLE3	-	NULL	ENSG00000012211		0.604	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRICKLE3	HGNC	protein_coding	OTTHUMT00000060811.1	23	0.00	0	GT	NM_006150		49040116	49040117	-1	no_errors	ENST00000536904	ensembl	human	known	69_37n	frame_shift_del	12	20.00	3	DEL	0.149:0.119	-
RB1	5925	genome.wustl.edu	37	13	48934189	48934189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr13:48934189C>A	ENST00000267163.4	+	7	782	c.644C>A	c.(643-645)tCa>tAa	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>A	13.37:g.48934189C>A	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	35	5.436869	0.96168	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	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	110	0.00	0	C			48934189	48934189	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	nonsense	41	47.44	37	SNP	1.000	A
RFX4	5992	genome.wustl.edu	37	12	107080750	107080750	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr12:107080750A>C	ENST00000392842.1	+	6	880	c.466A>C	c.(466-468)Acg>Ccg	p.T156P	RFX4_ENST00000357881.4_Missense_Mutation_p.T165P|RFX4_ENST00000229387.5_Missense_Mutation_p.T62P|RP11-482D24.2_ENST00000547531.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	156					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GGTGAGTGAGACGGGCAAGAA	0.463																																						dbGAP											0													188.0	181.0	184.0					12																	107080750		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.466A>C	12.37:g.107080750A>C	ENSP00000376585:p.Thr156Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.T165P	ENST00000392842.1	37	c.493	CCDS9106.1	12	.	.	.	.	.	.	.	.	.	.	A	15.66	2.898879	0.52227	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000552866;ENST00000229387	T;T;D;T;T	0.86432	-0.17;-0.17;-2.12;-1.13;0.78	5.75	3.16	0.36331	.	0.244896	0.47852	D	0.000202	T	0.66665	0.2812	N	0.02011	-0.69	0.58432	D	0.999999	B;B;B;P	0.45348	0.001;0.27;0.126;0.856	B;B;B;B	0.38803	0.002;0.122;0.086;0.282	T	0.71563	-0.4555	10	0.62326	D	0.03	-5.6734	8.6935	0.34282	0.8077:0.0:0.0686:0.1237	.	62;165;165;156	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	P	156;165;165;101;62;62	ENSP00000376585:T156P;ENSP00000350552:T165P;ENSP00000448694:T101P;ENSP00000447904:T62P;ENSP00000229387:T62P	ENSP00000229387:T62P	T	+	1	0	RFX4	105604880	1.000000	0.71417	0.957000	0.39632	0.874000	0.50279	5.864000	0.69575	1.021000	0.39600	0.533000	0.62120	ACG	RFX4	-	NULL	ENSG00000111783		0.463	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	106	0.00	0	A	NM_032491		107080750	107080750	+1	no_errors	ENST00000357881	ensembl	human	known	69_37n	missense	81	18.18	18	SNP	1.000	C
RUNX1	861	genome.wustl.edu	37	21	36206776	36206777	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr21:36206776_36206777insG	ENST00000344691.4	-	4	2231_2232	c.654_655insC	c.(652-657)cccacgfs	p.T219fs	RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.T246fs|RUNX1_ENST00000358356.5_Frame_Shift_Ins_p.T219fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.T234fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.T246fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	219	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.H242fs*14(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGGTTGGGCGTGGGGGCTGGGT	0.629			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	GRCh37	CD052120	RUNX1	D																																				-	-	-	SO:0001589	frameshift_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.655dupC	21.37:g.36206781_36206781dupG	ENSP00000340690:p.Thr219fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.T245fs	ENST00000344691.4	37	c.736_735	CCDS42922.1	21																																																																																			RUNX1	-	pirsf_TF_Runt-rel_RUNX	ENSG00000159216		0.629	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	175	0.00	0	-			36206776	36206777	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	frame_shift_ins	95	27.48	36	INS	1.000:1.000	G
SMG5	23381	genome.wustl.edu	37	1	156237972	156237972	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr1:156237972C>T	ENST00000361813.5	-	9	986	c.842G>A	c.(841-843)tGt>tAt	p.C281Y	SMG5_ENST00000368267.5_Missense_Mutation_p.C281Y|SMG5_ENST00000489907.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	281					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AATGTCTTTACATCTGAAATG	0.468																																						dbGAP											0													174.0	165.0	168.0					1																	156237972		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.842G>A	1.37:g.156237972C>T	ENSP00000355261:p.Cys281Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.C281Y	ENST00000361813.5	37	c.842	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077106	0.55753	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.17528	2.27;2.27	5.49	5.49	0.81192	.	0.217518	0.49916	D	0.000127	T	0.13713	0.0332	L	0.47716	1.5	0.36316	D	0.857928	P	0.40602	0.723	P	0.46885	0.53	T	0.05599	-1.0875	10	0.15499	T	0.54	-6.8028	18.1308	0.89600	0.0:1.0:0.0:0.0	.	281	Q9UPR3	SMG5_HUMAN	Y	281	ENSP00000355261:C281Y;ENSP00000357250:C281Y	ENSP00000355261:C281Y	C	-	2	0	SMG5	154504596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.981000	0.56902	2.865000	0.98341	0.655000	0.94253	TGT	SMG5	-	NULL	ENSG00000198952		0.468	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	190	0.52	1	C	NM_015327		156237972	156237972	-1	no_errors	ENST00000361813	ensembl	human	known	69_37n	missense	214	42.78	160	SNP	1.000	T
SYNPR	132204	genome.wustl.edu	37	3	63594947	63594947	+	Silent	SNP	C	C	T			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr3:63594947C>T	ENST00000295894.5	+	4	864	c.495C>T	c.(493-495)tgC>tgT	p.C165C	SYNPR_ENST00000465156.1_Intron|SYNPR_ENST00000460711.1_Silent_p.C176C|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000478300.1_Silent_p.C185C|SYNPR_ENST00000479198.1_Silent_p.C165C	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	165	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		CCAACAAATGCATGGCTATCC	0.413																																					NSCLC(29;1052 1116 20025 32519)	dbGAP											0													153.0	151.0	152.0					3																	63594947		1947	4142	6089	-	-	-	SO:0001819	synonymous_variant	0			AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.495C>T	3.37:g.63594947C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R675|G5E9W4	Silent	SNP	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	p.C185	ENST00000295894.5	37	c.555	CCDS46860.1	3																																																																																			SYNPR	-	pfam_MARVEL-like_dom	ENSG00000163630		0.413	SYNPR-004	KNOWN	basic|CCDS	protein_coding	SYNPR	HGNC	protein_coding	OTTHUMT00000351787.1	267	0.00	0	C			63594947	63594947	+1	no_errors	ENST00000478300	ensembl	human	known	69_37n	silent	253	35.46	139	SNP	1.000	T
TAS2R38	5726	genome.wustl.edu	37	7	141673070	141673070	+	Silent	SNP	G	G	T			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr7:141673070G>T	ENST00000547270.1	-	1	503	c.420C>A	c.(418-420)atC>atA	p.I140I		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	140					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GCATCTGGGAGATCTTCCTGG	0.517																																						dbGAP											0													45.0	42.0	43.0					7																	141673070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.420C>A	7.37:g.141673070G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	pfam_TAS2_rcpt	p.I140	ENST00000547270.1	37	c.420	CCDS34765.1	7																																																																																			TAS2R38	-	pfam_TAS2_rcpt	ENSG00000257138		0.517	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R38	HGNC	protein_coding	OTTHUMT00000350810.2	60	0.00	0	G	NM_176817		141673070	141673070	-1	no_errors	ENST00000547270	ensembl	human	known	69_37n	silent	44	13.73	7	SNP	0.000	T
TP53	7157	genome.wustl.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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"""	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132.0	118.0	123.0					17																	7578212		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	172	0.00	0	G	NM_000546		7578212	7578212	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	55	49.07	53	SNP	0.893	A
USH2A	7399	genome.wustl.edu	37	1	216219877	216219877	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr1:216219877G>T	ENST00000307340.3	-	32	6607	c.6221C>A	c.(6220-6222)tCc>tAc	p.S2074Y	USH2A_ENST00000366943.2_Missense_Mutation_p.S2074Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2074	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S2074C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGGTTCCAGGAGAGCAGCAA	0.428										HNSCC(13;0.011)																												dbGAP											1	Substitution - Missense(1)	lung(1)											101.0	91.0	94.0					1																	216219877		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6221C>A	1.37:g.216219877G>T	ENSP00000305941:p.Ser2074Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S2074Y	ENST00000307340.3	37	c.6221	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	7.121	0.577967	0.13686	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57752	0.38;0.38	5.48	1.02	0.19986	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.941127	0.08731	N	0.902044	T	0.35998	0.0951	L	0.45422	1.42	0.09310	N	1	B	0.30763	0.294	B	0.27262	0.078	T	0.23404	-1.0189	10	0.21014	T	0.42	.	1.1746	0.01832	0.4028:0.1588:0.2944:0.1439	.	2074	O75445	USH2A_HUMAN	Y	2074	ENSP00000305941:S2074Y;ENSP00000355910:S2074Y	ENSP00000305941:S2074Y	S	-	2	0	USH2A	214286500	0.107000	0.21998	0.070000	0.20053	0.936000	0.57629	0.486000	0.22340	0.362000	0.24319	0.655000	0.94253	TCC	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	134	0.00	0	G	NM_007123		216219877	216219877	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	206	16.60	41	SNP	0.000	T
ZNF224	7767	genome.wustl.edu	37	19	44612139	44612139	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A202-01A-11D-A14K-09	TCGA-BH-A202-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6feb69a-8827-4d43-94aa-036cf5150549	4cdd2f93-e0d1-4420-bf4d-ba004cc0599c	g.chr19:44612139C>T	ENST00000336976.6	+	6	2080	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	609					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AGCTGGTCCTCAACTCGTCTG	0.448																																						dbGAP											0													82.0	83.0	82.0					19																	44612139		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1826C>T	19.37:g.44612139C>T	ENSP00000337368:p.Ser609Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	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.S609L	ENST00000336976.6	37	c.1826	CCDS33046.1	19	.	.	.	.	.	.	.	.	.	.	c	12.95	2.092934	0.36952	.	.	ENSG00000186019	ENST00000336976	T	0.61859	0.07	2.26	0.625	0.17665	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72374	0.3452	M	0.85373	2.75	0.09310	N	1	D	0.62365	0.991	D	0.76071	0.987	T	0.58014	-0.7711	9	0.56958	D	0.05	.	4.3641	0.11216	0.1982:0.6267:0.0:0.1751	.	609	Q9NZL3	ZN224_HUMAN	L	609	ENSP00000337368:S609L	ENSP00000337368:S609L	S	+	2	0	ZNF224	49303979	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-6.721000	0.00056	0.215000	0.20761	0.591000	0.81541	TCA	ZNF224	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267680		0.448	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF224	HGNC	protein_coding	OTTHUMT00000460477.1	73	0.00	0	C	NM_013398		44612139	44612139	+1	no_errors	ENST00000336976	ensembl	human	known	69_37n	missense	62	41.51	44	SNP	0.000	T
