#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
A1CF	29974	genome.wustl.edu	37	10	52596055	52596055	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr10:52596055C>T	ENST00000373993.1	-	4	427	c.383G>A	c.(382-384)gGg>gAg	p.G128E	A1CF_ENST00000395495.1_Missense_Mutation_p.G128E|A1CF_ENST00000282641.2_Missense_Mutation_p.G128E|A1CF_ENST00000373997.3_Missense_Mutation_p.G128E|A1CF_ENST00000395489.2_Missense_Mutation_p.G121E|A1CF_ENST00000374001.2_Missense_Mutation_p.G128E|A1CF_ENST00000373995.3_Missense_Mutation_p.G136E			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	128	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGCACAAACCCCTAAGAGGCG	0.433																																						dbGAP											0													59.0	61.0	60.0					10																	52596055		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.383G>A	10.37:g.52596055C>T	ENSP00000363105:p.Gly128Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.G128E	ENST00000373993.1	37	c.383	CCDS7242.1	10	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902594	0.92035	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;3.46;1.09;3.46;3.46;3.46	6.04	6.04	0.98038	RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	N	0.12663	0.25	0.80722	D	1	B;P;D;P	0.89917	0.34;0.58;1.0;0.725	B;B;D;P	0.97110	0.234;0.322;1.0;0.537	T	0.54330	-0.8310	10	0.56958	D	0.05	-7.2268	18.0887	0.89466	0.0:1.0:0.0:0.0	.	121;128;128;136	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	E	128;128;128;136;128;128;111;121;128	ENSP00000363113:G128E;ENSP00000363105:G128E;ENSP00000363109:G128E;ENSP00000363107:G136E;ENSP00000282641:G128E;ENSP00000378873:G128E;ENSP00000378868:G121E;ENSP00000397953:G128E	ENSP00000282641:G128E	G	-	2	0	A1CF	52266061	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.731000	0.84895	2.873000	0.98535	0.563000	0.77884	GGG	A1CF	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000148584		0.433	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	A1CF	HGNC	protein_coding	OTTHUMT00000048086.2	93	0.00	0	C	NM_014576		52596055	52596055	-1	no_errors	ENST00000282641	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	1.000	T
ANKRD1	27063	genome.wustl.edu	37	10	92675332	92675332	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr10:92675332T>A	ENST00000371697.3	-	8	1065	c.817A>T	c.(817-819)Atg>Ttg	p.M273L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	273					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				GCGCCATACATAATCAGGAGT	0.458																																						dbGAP											0													117.0	104.0	108.0					10																	92675332		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.817A>T	10.37:g.92675332T>A	ENSP00000360762:p.Met273Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LE7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M273L	ENST00000371697.3	37	c.817	CCDS7412.1	10	.	.	.	.	.	.	.	.	.	.	T	0.353	-0.943571	0.02322	.	.	ENSG00000148677	ENST00000371697	T	0.63744	-0.06	5.56	4.36	0.52297	Ankyrin repeat-containing domain (4);	0.336681	0.28332	N	0.015738	T	0.36744	0.0978	N	0.03224	-0.385	0.30214	N	0.797469	B	0.02656	0.0	B	0.04013	0.001	T	0.30880	-0.9963	10	0.35671	T	0.21	.	10.9731	0.47450	0.0:0.0:0.345:0.655	.	273	Q15327	ANKR1_HUMAN	L	273	ENSP00000360762:M273L	ENSP00000360762:M273L	M	-	1	0	ANKRD1	92665312	1.000000	0.71417	0.964000	0.40570	0.109000	0.19521	2.099000	0.41767	2.097000	0.63578	0.533000	0.62120	ATG	ANKRD1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000148677		0.458	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD1	HGNC	protein_coding	OTTHUMT00000049357.1	119	0.00	0	T	NM_014391		92675332	92675332	-1	no_errors	ENST00000371697	ensembl	human	known	69_37n	missense	52	11.86	7	SNP	0.999	A
BCL11A	53335	genome.wustl.edu	37	2	60687466	60687466	+	3'UTR	SNP	G	G	T			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr2:60687466G>T	ENST00000335712.6	-	0	2808				BCL11A_ENST00000358510.4_3'UTR|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)						B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGTGGGGCTGGAGGGCGATGG	0.428			T	IGH@	B-CLL																																	dbGAP		Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.*73C>A	2.37:g.60687466G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	RNA	SNP	-	NULL	ENST00000335712.6	37	NULL	CCDS1862.1	2																																																																																			BCL11A	-	-	ENSG00000119866		0.428	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	12	0.00	0	G	NM_022893		60687466	60687466	-1	no_errors	ENST00000477659	ensembl	human	known	69_37n	rna	11	26.67	4	SNP	0.999	T
CBX8	57332	genome.wustl.edu	37	17	77768523	77768523	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr17:77768523C>G	ENST00000269385.4	-	5	1198	c.1081G>C	c.(1081-1083)Gtg>Ctg	p.V361L	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	361					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTGACCACCACCTTCTCCAGG	0.557																																						dbGAP											0													83.0	94.0	91.0					17																	77768523		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.1081G>C	17.37:g.77768523C>G	ENSP00000269385:p.Val361Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96H39|Q9NR07	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.V361L	ENST00000269385.4	37	c.1081	CCDS11765.1	17	.	.	.	.	.	.	.	.	.	.	c	21.6	4.179776	0.78564	.	.	ENSG00000141570	ENST00000269385	T	0.70399	-0.48	4.94	4.94	0.65067	.	0.067414	0.64402	D	0.000016	T	0.80549	0.4644	M	0.82517	2.595	0.54753	D	0.999987	D	0.53312	0.959	P	0.50109	0.631	D	0.84829	0.0801	10	0.87932	D	0	-18.2364	18.6749	0.91525	0.0:1.0:0.0:0.0	.	361	Q9HC52	CBX8_HUMAN	L	361	ENSP00000269385:V361L	ENSP00000269385:V361L	V	-	1	0	CBX8	75383118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.603000	0.67619	2.485000	0.83878	0.531000	0.56144	GTG	CBX8	-	NULL	ENSG00000141570		0.557	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1	31	0.00	0	C	NM_020649		77768523	77768523	-1	no_errors	ENST00000269385	ensembl	human	known	69_37n	missense	11	21.43	3	SNP	1.000	G
CD247	919	genome.wustl.edu	37	1	167404660	167404660	+	Silent	SNP	C	C	T			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr1:167404660C>T	ENST00000362089.5	-	5	384	c.312G>A	c.(310-312)aaG>aaA	p.K104K	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Silent_p.K103K			P20963	CD3Z_HUMAN	CD247 molecule	104	ITAM 2. {ECO:0000255|PROSITE- ProRule:PRU00379}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	CCTGAGGGTTCTTCCTTCTCT	0.532																																					Ovarian(192;1815 2869 36877 43334)	dbGAP											0													98.0	93.0	95.0					1																	167404660		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.312G>A	1.37:g.167404660C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK49|Q5VX13|Q8TAX4	Silent	SNP	pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.K104	ENST00000362089.5	37	c.312	CCDS1261.1	1																																																																																			CD247	-	NULL	ENSG00000198821		0.532	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD247	HGNC	protein_coding	OTTHUMT00000083707.1	87	0.00	0	C	NM_198053		167404660	167404660	-1	no_errors	ENST00000362089	ensembl	human	known	69_37n	silent	53	14.52	9	SNP	0.997	T
CEP112	201134	genome.wustl.edu	37	17	64173016	64173016	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr17:64173016C>T	ENST00000392769.2	-	3	447	c.229G>A	c.(229-231)Ggt>Agt	p.G77S	CEP112_ENST00000535342.2_Missense_Mutation_p.G77S|CEP112_ENST00000537949.1_Missense_Mutation_p.G77S	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	77					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TCAAGCGCACCTCGTTTAAGC	0.423																																						dbGAP											0													138.0	119.0	125.0					17																	64173016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.229G>A	17.37:g.64173016C>T	ENSP00000376522:p.Gly77Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	superfamily_t-SNARE	p.G77S	ENST00000392769.2	37	c.229	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882431	0.91740	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.58210	0.35;0.35;0.38	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	T	0.62986	0.2473	M	0.75264	2.295	0.80722	D	1	D;D	0.55605	0.972;0.972	P;P	0.52909	0.637;0.713	T	0.65216	-0.6222	10	0.46703	T	0.11	-21.0332	12.0644	0.53580	0.0:0.9208:0.0:0.0792	.	77;77	F5GYE8;Q8N8E3	.;CE112_HUMAN	S	77	ENSP00000442784:G77S;ENSP00000376522:G77S;ENSP00000440775:G77S	ENSP00000376522:G77S	G	-	1	0	CEP112	61603478	1.000000	0.71417	0.812000	0.32479	0.920000	0.55202	5.278000	0.65592	2.480000	0.83734	0.650000	0.86243	GGT	CEP112	-	NULL	ENSG00000154240		0.423	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	93	0.00	0	C	NM_145036		64173016	64173016	-1	no_errors	ENST00000392769	ensembl	human	known	69_37n	missense	66	10.81	8	SNP	0.991	T
DDR1	780	genome.wustl.edu	37	6	30859824	30859824	+	Silent	SNP	G	G	T			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr6:30859824G>T	ENST00000324771.8	+	9	1259	c.711G>T	c.(709-711)ggG>ggT	p.G237G	DDR1_ENST00000446312.1_Missense_Mutation_p.G204V|DDR1_ENST00000454612.2_Silent_p.G237G|DDR1_ENST00000508312.1_Silent_p.G255G|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Silent_p.G237G|DDR1_ENST00000418800.2_Silent_p.G237G|DDR1_ENST00000376567.2_Silent_p.G237G|DDR1_ENST00000376570.4_Silent_p.G237G|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000376569.3_Silent_p.G237G|DDR1_ENST00000513240.1_Silent_p.G237G|DDR1_ENST00000452441.1_Silent_p.G237G|DDR1_ENST00000376568.3_Silent_p.G237G			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	237	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GTGTGGTGGGGCTGGATGACT	0.572																																						dbGAP											0													109.0	109.0	109.0					6																	30859824		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.711G>T	6.37:g.30859824G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.G204V	ENST00000324771.8	37	c.611	CCDS34385.1	6	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683923	0.29872	.	.	ENSG00000204580	ENST00000446312	D	0.98207	-4.79	3.82	1.85	0.25348	.	0.000000	0.85682	D	0.000000	D	0.88198	0.6372	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.81037	-0.1114	9	0.12766	T	0.61	.	3.6287	0.08123	0.2556:0.2076:0.5367:0.0	.	204	Q08345-4	.	V	204	ENSP00000405998:G204V	ENSP00000405998:G204V	G	+	2	0	DDR1	30967803	0.879000	0.30193	1.000000	0.80357	0.950000	0.60333	-0.058000	0.11750	0.310000	0.22990	0.462000	0.41574	GGC	DDR1	-	NULL	ENSG00000204580		0.572	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	HGNC	protein_coding	OTTHUMT00000076494.3	102	0.00	0	G	NM_013994		30859824	30859824	+1	no_errors	ENST00000446312	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.998	T
DUS3L	56931	genome.wustl.edu	37	19	5789558	5789558	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr19:5789558delT	ENST00000309061.7	-	3	656	c.560delA	c.(559-561)gagfs	p.E187fs	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	187							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GTTCTGTCCCTCGGGCCTCAG	0.721																																						dbGAP											0													8.0	12.0	11.0					19																	5789558		2169	4257	6426	-	-	-	SO:0001589	frameshift_variant	0				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.560delA	19.37:g.5789558delT	ENSP00000311977:p.Glu187fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Frame_Shift_Del	DEL	pfam_tRNA_hU_synthase	p.E187fs	ENST00000309061.7	37	c.560	CCDS32880.1	19																																																																																			DUS3L	-	NULL	ENSG00000141994		0.721	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	17	0.00	0	T	NM_020175		5789558	5789558	-1	no_errors	ENST00000309061	ensembl	human	known	69_37n	frame_shift_del	3	40.00	2	DEL	0.104	-
GDF5	8200	genome.wustl.edu	37	20	34022326	34022326	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr20:34022326A>G	ENST00000374372.1	-	4	1390	c.887T>C	c.(886-888)aTc>aCc	p.I296T	GDF5_ENST00000374369.3_Missense_Mutation_p.I296T|GDF5OS_ENST00000374375.1_Missense_Mutation_p.M124V			P43026	GDF5_HUMAN	growth differentiation factor 5	296					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GAGCTTCCAGATGTCGAACAC	0.667																																						dbGAP											0													18.0	20.0	20.0					20																	34022326		2199	4299	6498	-	-	-	SO:0001583	missense	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.887T>C	20.37:g.34022326A>G	ENSP00000363492:p.Ile296Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Q2|Q96SB1	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.I296T	ENST00000374372.1	37	c.887	CCDS13254.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.938268|3.938268	0.73557|0.73557	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	T;T|.	0.70516|.	-0.49;-0.49|.	4.56|4.56	4.56|4.56	0.56223|0.56223	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70509|0.70509	0.3232|0.3232	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999996|0.999996	P;P|.	0.50066|.	0.881;0.931|.	P;P|.	0.57283|.	0.796;0.817|.	T|T	0.74639|0.74639	-0.3598|-0.3598	10|6	0.87932|0.87932	D|D	0|0	.|.	14.0729|14.0729	0.64870|0.64870	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	296;296|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	T|V	296|124	ENSP00000363489:I296T;ENSP00000363492:I296T|.	ENSP00000363489:I296T|ENSP00000363495:M124V	I|M	-|+	2|1	0|0	GDF5|GDF5OS	33485740|33485740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.131000|9.131000	0.94446|0.94446	1.907000|1.907000	0.55213|0.55213	0.402000|0.402000	0.26972|0.26972	ATC|ATG	GDF5	-	pfam_TGF-b_N	ENSG00000125965		0.667	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	27	0.00	0	A			34022326	34022326	-1	no_errors	ENST00000374369	ensembl	human	known	69_37n	missense	9	25.00	3	SNP	1.000	G
HNRNPKP3	399881	genome.wustl.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						dbGAP											0																																										-	-	-			0					11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000511537.1	37	NULL		11																																																																																			HNRNPKP3	-	-	ENSG00000251557		0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	HNRNPKP3	HGNC	pseudogene	OTTHUMT00000390385.1	11	0.00	0	A	NR_033868		43283606	43283606	-1	no_errors	ENST00000511537	ensembl	human	known	69_37n	rna	4	33.33	2	DEL	0.986	-
KIF1B	23095	genome.wustl.edu	37	1	10363725	10363725	+	Intron	SNP	G	G	T			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr1:10363725G>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377093.4_Missense_Mutation_p.D828Y|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.D828Y|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAAGCTGGAAGATATTTTGCA	0.403																																						dbGAP											0													54.0	56.0	55.0					1																	10363725		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6421G>T	1.37:g.10363725G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D828Y	ENST00000377086.1	37	c.2482		1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480884	0.63849	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.73575	-0.76;-0.76	5.58	5.58	0.84498	.	.	.	.	.	D	0.87212	0.6121	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.88088	0.2811	8	0.66056	D	0.02	.	19.5743	0.95436	0.0:0.0:1.0:0.0	.	828	O60333-3	.	Y	828	ENSP00000366297:D828Y;ENSP00000366287:D828Y	ENSP00000366287:D828Y	D	+	1	0	KIF1B	10286312	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.731000	0.98807	2.611000	0.88343	0.655000	0.94253	GAT	KIF1B	-	NULL	ENSG00000054523		0.403	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	32	0.00	0	G			10363725	10363725	+1	no_errors	ENST00000377083	ensembl	human	known	69_37n	missense	11	21.43	3	SNP	1.000	T
MYH9	4627	genome.wustl.edu	37	22	36702619	36702620	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr22:36702619_36702620insC	ENST00000216181.5	-	16	2107_2108	c.1877_1878insG	c.(1876-1878)ggcfs	p.G626fs		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	626	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTCCGACATGCCGGCCACCTG	0.634			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													dbGAP		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1878dupG	22.37:g.36702621_36702621dupC	ENSP00000216181:p.Gly626fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.M627fs	ENST00000216181.5	37	c.1878_1877	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000100345		0.634	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	46	0.00	0	-	NM_002473		36702619	36702620	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	1.000:1.000	C
NOTCH3	4854	genome.wustl.edu	37	19	15292514	15292514	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr19:15292514C>T	ENST00000263388.2	-	17	2740	c.2665G>A	c.(2665-2667)Gat>Aat	p.D889N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	889	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGCACTCATCCACATCGCGG	0.677																																						dbGAP											0													27.0	23.0	24.0					19																	15292514		2186	4286	6472	-	-	-	SO:0001583	missense	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2665G>A	19.37:g.15292514C>T	ENSP00000263388:p.Asp889Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.D889N	ENST00000263388.2	37	c.2665	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	2.456	-0.325183	0.05350	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.95482	-3.72	5.26	5.26	0.73747	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.33290	N	0.005074	D	0.87136	0.6102	N	0.11870	0.19	0.44073	D	0.99682	B;B	0.29432	0.244;0.054	B;B	0.32465	0.146;0.079	T	0.82319	-0.0516	10	0.02654	T	1	.	8.1628	0.31209	0.0:0.8281:0.0:0.1719	.	840;889	Q59FL3;Q9UM47	.;NOTC3_HUMAN	N	889;839	ENSP00000263388:D889N	ENSP00000263388:D889N	D	-	1	0	NOTCH3	15153514	1.000000	0.71417	0.988000	0.46212	0.019000	0.09904	2.131000	0.42074	2.466000	0.83321	0.561000	0.74099	GAT	NOTCH3	-	smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom	ENSG00000074181		0.677	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	27	0.00	0	C	NM_000435		15292514	15292514	-1	no_errors	ENST00000263388	ensembl	human	known	69_37n	missense	6	33.33	3	SNP	1.000	T
OSBPL10	114884	genome.wustl.edu	37	3	31871579	31871579	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr3:31871579G>A	ENST00000396556.2	-	4	804	c.682C>T	c.(682-684)Cga>Tga	p.R228*	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	228					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTGGCTCTTCGGGCGGCTGCA	0.592																																						dbGAP											0													61.0	55.0	57.0					3																	31871579		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.682C>T	3.37:g.31871579G>A	ENSP00000379804:p.Arg228*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E212|Q9BTU5	Nonsense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R228*	ENST00000396556.2	37	c.682	CCDS2651.1	3	.	.	.	.	.	.	.	.	.	.	G	38	7.238571	0.98157	.	.	ENSG00000144645	ENST00000396556;ENST00000428241	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-5.4575	14.5597	0.68126	0.0:0.0:0.8538:0.1462	.	.	.	.	X	228;7	.	ENSP00000379804:R228X	R	-	1	2	OSBPL10	31846583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.573000	0.60893	2.677000	0.91161	0.561000	0.74099	CGA	OSBPL10	-	NULL	ENSG00000144645		0.592	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL10	HGNC	protein_coding	OTTHUMT00000253165.2	47	0.00	0	G			31871579	31871579	-1	no_errors	ENST00000396556	ensembl	human	known	69_37n	nonsense	30	16.67	6	SNP	1.000	A
RUNX1	861	genome.wustl.edu	37	21	36259142	36259142	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr21:36259142T>A	ENST00000344691.4	-	1	1845	c.268A>T	c.(268-270)Aag>Tag	p.K90*	RUNX1_ENST00000399240.1_Nonsense_Mutation_p.K90*|RUNX1_ENST00000358356.5_Nonsense_Mutation_p.K90*|RUNX1_ENST00000325074.5_Nonsense_Mutation_p.K105*|RUNX1_ENST00000437180.1_Nonsense_Mutation_p.K117*|RUNX1_ENST00000300305.3_Nonsense_Mutation_p.K117*|RUNX1_ENST00000486278.2_Nonsense_Mutation_p.K93*	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	90	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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.V90_K117del(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						GCCAGTACCTTGAAAGCGATG	0.716			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 - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											48.0	47.0	47.0					21																	36259142		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.268A>T	21.37:g.36259142T>A	ENSP00000340690:p.Lys90*	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	Nonsense_Mutation	SNP	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.K117*	ENST00000344691.4	37	c.349	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	T	38	7.241919	0.98157	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278;ENST00000455571	.	.	.	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.5633	13.8705	0.63615	0.0:0.0:0.0:1.0	.	.	.	.	X	90;117;117;105;90;93;90;105;93;104	.	ENSP00000300305:K117X	K	-	1	0	RUNX1	35181012	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.370000	0.79589	1.858000	0.53909	0.455000	0.32223	AAG	RUNX1	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	ENSG00000159216		0.716	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	44	0.00	0	T			36259142	36259142	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	nonsense	11	31.25	5	SNP	1.000	A
TMEM132A	54972	genome.wustl.edu	37	11	60703785	60703787	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr11:60703785_60703787delGGA	ENST00000453848.2	+	11	2636_2638	c.2478_2480delGGA	c.(2476-2481)agggag>agg	p.E835del	TMEM132A_ENST00000005286.4_In_Frame_Del_p.E836del			Q24JP5	T132A_HUMAN	transmembrane protein 132A	835	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.|Glu-rich.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGAAGCCAGggaggaggaggag	0.635																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2478_2480delGGA	11.37:g.60703794_60703796delGGA	ENSP00000405823:p.Glu835del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	In_Frame_Del	DEL	NULL	p.E831in_frame_del	ENST00000453848.2	37	c.2481_2483	CCDS44618.1	11																																																																																			TMEM132A	-	NULL	ENSG00000006118		0.635	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	86	0.00	0	GGA	NM_017870		60703785	60703787	+1	no_errors	ENST00000005286	ensembl	human	known	69_37n	in_frame_del	16	11.11	2	DEL	0.159:0.667:0.684	-
TMEM175	84286	genome.wustl.edu	37	4	947114	947114	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr4:947114C>G	ENST00000264771.4	+	8	784	c.599C>G	c.(598-600)gCc>gGc	p.A200G	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Missense_Mutation_p.A118G|TMEM175_ENST00000515740.1_Missense_Mutation_p.A84G	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	200						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TTTGCAGCGGCCATCTTCTCT	0.657																																						dbGAP											0													132.0	114.0	120.0					4																	947114		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.599C>G	4.37:g.947114C>G	ENSP00000264771:p.Ala200Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVN4|Q8ND13	Missense_Mutation	SNP	pfam_DUF1211_TMEM175	p.A200G	ENST00000264771.4	37	c.599	CCDS3341.1	4	.	.	.	.	.	.	.	.	.	.	c	7.143	0.582287	0.13749	.	.	ENSG00000127419	ENST00000264771;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T	0.50001	1.35;1.33;0.76	4.6	4.6	0.57074	.	0.205916	0.43416	D	0.000570	T	0.54224	0.1845	M	0.61703	1.905	0.27935	N	0.937747	P;P;D	0.62365	0.931;0.856;0.991	B;B;P	0.53760	0.354;0.359;0.734	T	0.50499	-0.8821	10	0.21540	T	0.41	-19.9192	12.9396	0.58335	0.0:1.0:0.0:0.0	.	118;200;118	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	G	200;118;118;106;84;118;118	ENSP00000264771:A200G;ENSP00000427039:A84G;ENSP00000423669:A118G	ENSP00000264771:A200G	A	+	2	0	TMEM175	937114	0.998000	0.40836	0.030000	0.17652	0.022000	0.10575	3.597000	0.54031	2.097000	0.63578	0.574000	0.79327	GCC	TMEM175	-	NULL	ENSG00000127419		0.657	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM175	HGNC	protein_coding	OTTHUMT00000239193.2	130	0.00	0	C	NM_032326		947114	947114	+1	no_errors	ENST00000264771	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	0.479	G
TMX3	54495	genome.wustl.edu	37	18	66364475	66364475	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr18:66364475T>A	ENST00000299608.2	-	8	874	c.558A>T	c.(556-558)gaA>gaT	p.E186D	TMX3_ENST00000562706.1_Missense_Mutation_p.E186D|TMX3_ENST00000443099.2_Missense_Mutation_p.E159D	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	186					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CAGGAACCACTTCTTCTGAGG	0.249																																						dbGAP											0													34.0	34.0	34.0					18																	66364475		2200	4286	6486	-	-	-	SO:0001583	missense	0			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.558A>T	18.37:g.66364475T>A	ENSP00000299608:p.Glu186Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.E186D	ENST00000299608.2	37	c.558	CCDS32840.1	18	.	.	.	.	.	.	.	.	.	.	T	9.544	1.114120	0.20795	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T	0.32988	1.43;2.72	5.52	-8.32	0.00996	.	0.519976	0.22156	N	0.063843	T	0.06735	0.0172	N	0.08118	0	0.22620	N	0.998927	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.001;0.004;0.002	T	0.38265	-0.9669	10	0.02654	T	1	.	1.0733	0.01626	0.4145:0.2267:0.211:0.1477	.	159;186;186	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	D	186;186;159	ENSP00000299608:E186D;ENSP00000402605:E159D	ENSP00000299608:E186D	E	-	3	2	TMX3	64515455	0.016000	0.18221	0.955000	0.39395	0.951000	0.60555	-1.407000	0.02488	-0.983000	0.03511	-0.327000	0.08410	GAA	TMX3	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold	ENSG00000166479		0.249	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TMX3	HGNC	protein_coding	OTTHUMT00000420155.1	53	0.00	0	T	NM_019022		66364475	66364475	-1	no_errors	ENST00000299608	ensembl	human	known	69_37n	missense	27	10.00	3	SNP	0.199	A
VIL1	7429	genome.wustl.edu	37	2	219294019	219294019	+	Silent	SNP	G	G	T			TCGA-AC-A2FB-01A-11D-A17D-09	TCGA-AC-A2FB-11A-13D-A19T-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e15e39d-f36b-44bf-ae27-2f52d88ef9dd	edfc49b5-8519-44db-8c28-b6ad20a7a77a	g.chr2:219294019G>T	ENST00000248444.5	+	7	667	c.579G>T	c.(577-579)ctG>ctT	p.L193L	VIL1_ENST00000440053.1_Silent_p.L193L|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	193	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATGACTCTGGCCAAGGAGA	0.622																																						dbGAP											0													66.0	65.0	65.0					2																	219294019		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.579G>T	2.37:g.219294019G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9A7|Q53S11|Q96AC8	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.L193	ENST00000248444.5	37	c.579	CCDS2417.1	2																																																																																			VIL1	-	pfam_Gelsolin_dom,smart_Gelsolin	ENSG00000127831		0.622	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3	34	0.00	0	G	NM_007127		219294019	219294019	+1	no_errors	ENST00000248444	ensembl	human	known	69_37n	silent	14	17.65	3	SNP	1.000	T
