#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTS7	11173	genome.wustl.edu	37	15	79058298	79058298	+	Missense_Mutation	SNP	T	T	C	rs11630236	byFrequency	TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr15:79058298T>C	ENST00000388820.4	-	19	4165	c.3955A>G	c.(3955-3957)Acc>Gcc	p.T1319A	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1319			T -> A (in dbSNP:rs11630236). {ECO:0000269|PubMed:16585064}.		cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGTCCTGGGGTTGGGAAGGAG	0.642													t|||	907	0.18111	0.0363	0.2565	5008	,	,		17109	0.0188		0.4085	False		,,,				2504	0.2566					dbGAP											0													5.0	6.0	5.0					15																	79058298		1708	3753	5461	-	-	-	SO:0001583	missense	0			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3955A>G	15.37:g.79058298T>C	ENSP00000373472:p.Thr1319Ala		Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T1319A	ENST00000388820.4	37	c.3955	CCDS32303.1	15	439	0.20100732600732601	22	0.044715447154471545	106	0.292817679558011	10	0.017482517482517484	301	0.3970976253298153	t	7.545	0.661473	0.14645	.	.	ENSG00000136378	ENST00000388820	T	0.58652	0.32	3.67	-7.35	0.01422	.	1.897790	0.02172	N	0.059803	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.06786	0.001	B	0.06405	0.002	T	0.19910	-1.0291	9	0.07990	T	0.79	.	2.4445	0.04502	0.1436:0.4291:0.2859:0.1415	rs11630236	1319	Q9UKP4	ATS7_HUMAN	A	1319	ENSP00000373472:T1319A	ENSP00000373472:T1319A	T	-	1	0	ADAMTS7	76845353	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.554000	0.02172	-1.200000	0.02662	-0.670000	0.03821	ACC	ADAMTS7	-	NULL	ENSG00000136378		0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	8	0.00	0	T	NM_014272		79058298	79058298	-1	no_errors	ENST00000388820	ensembl	human	known	69_37n	missense	3	50.00	3	SNP	0.000	C
ANKRD12	23253	genome.wustl.edu	37	18	9255050	9255051	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr18:9255050_9255051delAA	ENST00000262126.4	+	9	2025_2026	c.1785_1786delAA	c.(1783-1788)tcaagtfs	p.SS595fs	ANKRD12_ENST00000383440.2_Frame_Shift_Del_p.SS572fs|ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.SS572fs	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	595						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CAGAAAGTTCAAGTGTAAAATC	0.322																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1785_1786delAA	18.37:g.9255050_9255051delAA	ENSP00000262126:p.Ser595fs		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S596fs	ENST00000262126.4	37	c.1785_1786	CCDS11843.1	18																																																																																			ANKRD12	-	NULL	ENSG00000101745		0.322	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	18	0.00	0	AA	NM_015208		9255050	9255051	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	frame_shift_del	10	28.57	4	DEL	0.892:1.000	-
CHTF18	63922	genome.wustl.edu	37	16	845185	845186	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr16:845185_845186delTG	ENST00000262315.9	+	16	2067_2068	c.2004_2005delTG	c.(2002-2007)gctgtgfs	p.V669fs	CHTF18_ENST00000317063.6_Frame_Shift_Del_p.V878fs|CHTF18_ENST00000455171.2_Frame_Shift_Del_p.V697fs	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	669					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GCCTGGGTGCTGTGTGTGTGGC	0.668																																						dbGAP											0										13,3939		5,3,1968						3.8	0.0			22	14,7876		3,8,3934	no	frameshift	CHTF18	NM_022092.2		8,11,5902	A1A1,A1R,RR		0.1774,0.3289,0.228				27,11815				-	-	-	SO:0001589	frameshift_variant	0			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2004_2005delTG	16.37:g.845193_845194delTG	ENSP00000262315:p.Val669fs		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Frame_Shift_Del	DEL	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.V880fs	ENST00000262315.9	37	c.2631_2632	CCDS45371.1	16																																																																																			CHTF18	-	NULL	ENSG00000127586		0.668	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF18	HGNC	protein_coding	OTTHUMT00000109061.3	27	0.00	0	TG	NM_022092		845185	845186	+1	no_errors	ENST00000317063	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.001:0.996	-
DUS4L	11062	genome.wustl.edu	37	7	107215657	107215657	+	Silent	SNP	G	G	T			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr7:107215657G>T	ENST00000265720.3	+	6	743	c.381G>T	c.(379-381)ggG>ggT	p.G127G	DUS4L_ENST00000402620.1_Silent_p.G6G	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	127							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						AAGGTTATGGGGCTTGCTTAA	0.363																																						dbGAP											0													90.0	95.0	94.0					7																	107215657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"""protein similar to E.coli yhdg and R. capsulatus nifR3"""						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.381G>T	7.37:g.107215657G>T			B4DLX0|Q2NKK1	Missense_Mutation	SNP	pfam_tRNA_hU_synthase	p.G88V	ENST00000265720.3	37	c.263	CCDS5745.1	7																																																																																			DUS4L	-	NULL	ENSG00000105865		0.363	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS4L	HGNC	protein_coding	OTTHUMT00000336967.2	55	0.00	0	G	NM_181581		107215657	107215657	+1	no_errors	ENST00000422290	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	0.999	T
EHMT1	79813	genome.wustl.edu	37	9	140710464	140710464	+	Silent	SNP	G	G	A	rs377320362	byFrequency	TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr9:140710464G>A	ENST00000460843.1	+	23	3351	c.3324G>A	c.(3322-3324)gcG>gcA	p.A1108A		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1108	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCAACCACGCGTGCTCCTGCT	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		19321	0.0		0.001	False		,,,				2504	0.002					dbGAP											0													65.0	56.0	59.0					9																	140710464		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3324G>A	9.37:g.140710464G>A			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.A1108	ENST00000460843.1	37	c.3324	CCDS7050.2	9																																																																																			EHMT1	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom	ENSG00000181090		0.597	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	31	0.00	0	G	NM_024757		140710464	140710464	+1	no_errors	ENST00000460843	ensembl	human	known	69_37n	silent	17	22.73	5	SNP	0.912	A
FAM179B	23116	genome.wustl.edu	37	14	45465069	45465069	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr14:45465069G>T	ENST00000361577.3	+	2	2381	c.2167G>T	c.(2167-2169)Gat>Tat	p.D723Y	FAM179B_ENST00000382233.2_Missense_Mutation_p.D723Y|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.D723Y	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	723										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAATAGTCGGGATTTTAACCC	0.363																																						dbGAP											0													104.0	102.0	103.0					14																	45465069		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2167G>T	14.37:g.45465069G>T	ENSP00000355045:p.Asp723Tyr		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D723Y	ENST00000361577.3	37	c.2167	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179957	0.78564	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	T;T;T;T	0.04454	3.62;3.62;3.62;3.62	5.51	5.51	0.81932	Armadillo-type fold (1);	0.150127	0.44688	D	0.000432	T	0.10465	0.0256	N	0.24115	0.695	0.45415	D	0.998392	P;P;D;P	0.63046	0.955;0.892;0.992;0.892	P;P;P;P	0.59761	0.643;0.643;0.863;0.643	T	0.05484	-1.0882	10	0.87932	D	0	-12.1779	16.14	0.81515	0.0:0.0:1.0:0.0	.	723;723;723;723	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	Y	723;723;723;723;42	ENSP00000355045:D723Y;ENSP00000354917:D723Y;ENSP00000371668:D723Y;ENSP00000451141:D42Y	ENSP00000354917:D723Y	D	+	1	0	FAM179B	44534819	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	5.462000	0.66707	2.601000	0.87937	0.585000	0.79938	GAT	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.363	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	95	0.00	0	G	XM_113781		45465069	45465069	+1	no_errors	ENST00000361577	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.999	T
FBXO15	201456	genome.wustl.edu	37	18	71797870	71797870	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr18:71797870G>C	ENST00000419743.2	-	4	435	c.356C>G	c.(355-357)tCa>tGa	p.S119*	FBXO15_ENST00000269500.5_Nonsense_Mutation_p.S43*	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	119						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAAAGCAGTTGAGTAGATTCC	0.353																																						dbGAP											0													75.0	76.0	75.0					18																	71797870		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.356C>G	18.37:g.71797870G>C	ENSP00000393154:p.Ser119*		B3KST3	Nonsense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S119*	ENST00000419743.2	37	c.356	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506957	0.44558	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	.	.	.	5.22	5.22	0.72569	.	0.452977	0.24396	N	0.038897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-13.0233	17.552	0.87879	0.0:0.0:1.0:0.0	.	.	.	.	X	43;119	.	ENSP00000269500:S43X	S	-	2	0	FBXO15	69948850	1.000000	0.71417	0.771000	0.31576	0.274000	0.26718	3.946000	0.56644	2.454000	0.82982	0.655000	0.94253	TCA	FBXO15	-	superfamily_F-box_dom_cyclin-like	ENSG00000141665		0.353	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	60	0.00	0	G	NM_152676		71797870	71797870	-1	no_errors	ENST00000419743	ensembl	human	known	69_37n	nonsense	31	26.19	11	SNP	0.955	C
FOLR1	2348	genome.wustl.edu	37	11	71906691	71906691	+	Silent	SNP	C	C	T	rs61735636	byFrequency	TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr11:71906691C>T	ENST00000393679.1	+	4	829	c.393C>T	c.(391-393)aaC>aaT	p.N131N	FOLR1_ENST00000393676.3_Silent_p.N131N|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Silent_p.N131N|FOLR1_ENST00000393681.2_Silent_p.N131N			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	131					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)	p.N131N(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GGGTACTGAACGTGCCCCTGT	0.537																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											77.0	67.0	70.0					11																	71906691		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.393C>T	11.37:g.71906691C>T			Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Silent	SNP	pfam_Folate_rcpt-like	p.N131	ENST00000393679.1	37	c.393	CCDS8211.1	11																																																																																			FOLR1	-	pfam_Folate_rcpt-like	ENSG00000110195		0.537	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOLR1	HGNC	protein_coding	OTTHUMT00000396773.1	43	0.00	0	C	NM_016725		71906691	71906691	+1	no_errors	ENST00000312293	ensembl	human	known	69_37n	silent	26	27.78	10	SNP	0.328	T
FLI1	2313	genome.wustl.edu	37	11	128628222	128628222	+	Splice_Site	SNP	G	G	A			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr11:128628222G>A	ENST00000527786.2	+	2	719		c.e2+1		FLI1_ENST00000344954.6_Splice_Site|FLI1_ENST00000534087.2_Splice_Site|FLI1_ENST00000525560.1_Splice_Site	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ATGGATCCAGGTAAGCTCACC	0.557			T	EWSR1	Ewing sarcoma																																	dbGAP		Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0													58.0	62.0	60.0					11																	128628222		2108	4221	6329	-	-	-	SO:0001630	splice_region_variant	0			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.230+1G>A	11.37:g.128628222G>A			B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Splice_Site	SNP	-	e2+1	ENST00000527786.2	37	c.230+1	CCDS44768.1	11	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841342	0.71488	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6631	0.91478	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLI1	128133432	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	9.433000	0.97501	2.404000	0.81709	0.561000	0.74099	.	FLI1	-	-	ENSG00000151702		0.557	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLI1	HGNC	protein_coding	OTTHUMT00000386226.2	48	0.00	0	G	NM_002017	Intron	128628222	128628222	+1	no_errors	ENST00000429175	ensembl	human	known	69_37n	splice_site	25	21.88	7	SNP	1.000	A
FOXA1	3169	genome.wustl.edu	37	14	38060747	38060748	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr14:38060747_38060748insT	ENST00000250448.2	-	2	1302_1303	c.1241_1242insA	c.(1240-1242)aagfs	p.K414fs	FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.K381fs|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	414					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGAAGTCCAGCTTATGCTGCTG	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1242dupA	14.37:g.38060749_38060749dupT	ENSP00000250448:p.Lys414fs		B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Ins	INS	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L415fs	ENST00000250448.2	37	c.1242_1241	CCDS9665.1	14																																																																																			FOXA1	-	pfam_Forkhead_box_C	ENSG00000129514		0.599	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1	55	0.00	0	-			38060747	38060748	-1	no_errors	ENST00000250448	ensembl	human	known	69_37n	frame_shift_ins	31	16.22	6	INS	1.000:1.000	T
CDKN2D	1032	genome.wustl.edu	37	19	10676488	10676488	+	IGR	DEL	C	C	-			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr19:10676488delC	ENST00000393599.2	-	0	1422				KRI1_ENST00000312962.6_Intron|KRI1_ENST00000537964.1_Intron|KRI1_ENST00000361821.5_Frame_Shift_Del_p.A27fs	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)						autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			AGACGGGATGCCCCCCCCCAG	0.731																																						dbGAP											0													11.0	11.0	11.0					19																	10676488		2147	4220	6367	-	-	-	SO:0001628	intergenic_variant	0				CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273			19.37:g.10676488delC			Q13102|Q6FGE9	Frame_Shift_Del	DEL	pfam_KRR1-interact_protein_1	p.A27fs	ENST00000393599.2	37	c.79	CCDS12244.1	19																																																																																			KRI1	-	NULL	ENSG00000129347		0.731	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000452030.1	10	0.00	0	C	NM_079421		10676488	10676488	-1	no_errors	ENST00000361821	ensembl	human	putative	69_37n	frame_shift_del	4	33.33	2	DEL	0.000	-
LAMA5	3911	genome.wustl.edu	37	20	60937537	60937537	+	Silent	SNP	G	G	A			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr20:60937537G>A	ENST00000252999.3	-	2	435	c.369C>T	c.(367-369)ggC>ggT	p.G123G	LAMA5_ENST00000370677.3_Silent_p.G123G|LAMA5_ENST00000370692.3_Silent_p.G123G	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	123	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGCGCTCCGTGCCATCGATGG	0.637																																						dbGAP											0													100.0	81.0	87.0					20																	60937537		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.369C>T	20.37:g.60937537G>A			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.G123	ENST00000252999.3	37	c.369	CCDS33502.1	20																																																																																			LAMA5	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N	ENSG00000130702		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	38	0.00	0	G	NM_005560		60937537	60937537	-1	no_errors	ENST00000252999	ensembl	human	known	69_37n	silent	21	27.59	8	SNP	1.000	A
C7orf55-LUC7L2	100996928	genome.wustl.edu	37	7	139083442	139083445	+	Splice_Site	DEL	ATGT	ATGT	-			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	ATGT	ATGT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr7:139083442_139083445delATGT	ENST00000354926.4	+	3	608_609	c.254_255delATGT	c.(253-255)gat>g	p.D85fs	C7orf55-LUC7L2_ENST00000263545.6_Splice_Site_p.D84fs|C7orf55-LUC7L2_ENST00000541170.3_Splice_Site_p.D82fs|LUC7L2_ENST00000541515.3_Splice_Site_p.D151fs	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		TTTGAACTTGATGTATGTGATTTT	0.338																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.255+1ATGT>-	7.37:g.139083446_139083449delATGT				Frame_Shift_Del	DEL	pfam_LUC7-rel	p.D151fs	ENST00000354926.4	37	c.452_453	CCDS43656.1	7																																																																																			LUC7L2	-	pfam_LUC7-rel	ENSG00000146963		0.338	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L2	HGNC	protein_coding	OTTHUMT00000323618.2	107	0.00	0	ATGT		Frame_Shift_Del	139083442	139083445	+1	no_errors	ENST00000541515	ensembl	human	known	69_37n	frame_shift_del	62	12.68	9	DEL	1.000:1.000	-
LYSMD1	388695	genome.wustl.edu	37	1	151137721	151137721	+	Missense_Mutation	SNP	G	G	A	rs200029870		TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr1:151137721G>A	ENST00000368908.5	-	1	674	c.14C>T	c.(13-15)tCt>tTt	p.S5F	LYSMD1_ENST00000440902.2_Intron|SCNM1_ENST00000368905.4_5'Flank	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	5								p.S5F(1)		endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGCTGTCTAGACGGGGAAGC	0.592																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											38.0	41.0	40.0					1																	151137721		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.14C>T	1.37:g.151137721G>A	ENSP00000357904:p.Ser5Phe		B4DQA1|Q69YX9	Missense_Mutation	SNP	pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr	p.S5F	ENST00000368908.5	37	c.14	CCDS986.1	1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508010	0.64410	.	.	ENSG00000163155	ENST00000368908	T	0.34472	1.36	5.04	5.04	0.67666	.	0.349858	0.30989	N	0.008479	T	0.32164	0.0820	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.03863	-1.0997	10	0.12430	T	0.62	.	17.3159	0.87224	0.0:0.0:1.0:0.0	.	5	Q96S90	LYSM1_HUMAN	F	5	ENSP00000357904:S5F	ENSP00000357904:S5F	S	-	2	0	LYSMD1	149404345	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.118000	0.57884	2.607000	0.88179	0.557000	0.71058	TCT	LYSMD1	-	NULL	ENSG00000163155		0.592	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYSMD1	HGNC	protein_coding	OTTHUMT00000034070.3	17	0.00	0	G	NM_212551		151137721	151137721	-1	no_errors	ENST00000368908	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.995	A
MATN2	4147	genome.wustl.edu	37	8	99039661	99039661	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr8:99039661A>C	ENST00000520016.1	+	13	2084	c.1960A>C	c.(1960-1962)Att>Ctt	p.I654L	RPL30_ENST00000518164.1_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.I613L|MATN2_ENST00000522025.2_Missense_Mutation_p.I370L|MATN2_ENST00000521689.1_Missense_Mutation_p.I654L|MATN2_ENST00000254898.5_Missense_Mutation_p.I654L			O00339	MATN2_HUMAN	matrilin 2	654						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGAAGGCCCAATTGACCTGGT	0.368																																						dbGAP											0													91.0	90.0	90.0					8																	99039661		1842	4096	5938	-	-	-	SO:0001583	missense	0			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1960A>C	8.37:g.99039661A>C	ENSP00000430487:p.Ile654Leu		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.I654L	ENST00000520016.1	37	c.1960	CCDS55264.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.18|11.18	1.563024|1.563024	0.27915|0.27915	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000518154;ENST00000517321	T;T;T;T;T|.	0.75477|.	-0.94;-0.94;-0.94;-0.94;-0.94|.	5.13|5.13	-7.65|-7.65	0.01281|0.01281	von Willebrand factor, type A (1);|.	0.706614|.	0.13231|.	N|.	0.403693|.	T|T	0.29882|0.29882	0.0747|0.0747	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.08055|.	0.001;0.003;0.001|.	T|T	0.22941|0.22941	-1.0202|-1.0202	10|5	0.13853|.	T|.	0.58|.	-0.3065|-0.3065	10.1025|10.1025	0.42513|0.42513	0.3312:0.1953:0.4735:0.0|0.3312:0.1953:0.4735:0.0	.|.	654;654;654|.	E9PF03;O00339-2;O00339|.	.;.;MATN2_HUMAN|.	L|T	654;654;613;613;370;654|436;87	ENSP00000429977:I654L;ENSP00000254898:I654L;ENSP00000430221:I613L;ENSP00000429010:I370L;ENSP00000430487:I654L|.	ENSP00000254898:I654L|.	I|N	+|+	1|2	0|0	MATN2|MATN2	99108837|99108837	0.000000|0.000000	0.05858|0.05858	0.012000|0.012000	0.15200|0.15200	0.970000|0.970000	0.65996|0.65996	-0.666000|-0.666000	0.05280|0.05280	-1.386000|-1.386000	0.02098|0.02098	0.477000|0.477000	0.44152|0.44152	ATT|AAT	MATN2	-	smart_VWF_A	ENSG00000132561		0.368	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	31	0.00	0	A			99039661	99039661	+1	no_errors	ENST00000254898	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	0.004	C
MCC	4163	genome.wustl.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup		D3DT05|Q6ZR04	In_Frame_Ins	INS	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.21in_frame_insG	ENST00000408903.3	37	c.64_63	CCDS43351.1	5																																																																																			MCC	-	NULL	ENSG00000171444		0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000370839.1	10	0.00	0	-	NM_001085377		112824048	112824049	-1	no_errors	ENST00000408903	ensembl	human	putative	69_37n	in_frame_ins	4	50.00	4	INS	0.854:0.894	GCC
WIPI1	55062	genome.wustl.edu	37	17	66420616	66420616	+	Intron	SNP	C	C	A			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr17:66420616C>A	ENST00000262139.5	-	12	1293				WIPI1_ENST00000546360.1_Intron|WIPI1_ENST00000589459.1_Intron|RP11-120M18.2_ENST00000592030.1_RNA|MIR635_ENST00000384830.1_RNA	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GGACACAAAACAATGATCAGG	0.478																																						dbGAP											0													109.0	101.0	103.0					17																	66420616		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1293+1599G>T	17.37:g.66420616C>A			Q8IXM5|Q9NWF8	RNA	SNP	-	NULL	ENST00000262139.5	37	NULL	CCDS11677.1	17																																																																																			MIR635	-	-	ENSG00000207561		0.478	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR635	HGNC	protein_coding	OTTHUMT00000448739.1	65	0.00	0	C	NM_017983		66420616	66420616	-1	no_errors	ENST00000384830	ensembl	human	known	69_37n	rna	28	30.00	12	SNP	0.000	A
MYB	4602	genome.wustl.edu	37	6	135511266	135511266	+	Splice_Site	SNP	T	T	C			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr6:135511266T>C	ENST00000367814.4	+	5	494	c.308T>C	c.(307-309)gTg>gCg	p.V103A	MYB_ENST00000533624.1_Splice_Site_p.V103A|MYB_ENST00000420123.2_Splice_Site_p.V79A|MYB_ENST00000341911.5_Splice_Site_p.V103A|MYB_ENST00000442647.2_Splice_Site_p.V103A|MYB_ENST00000527615.1_Splice_Site_p.V103A|MYB_ENST00000525369.1_Splice_Site_p.V103A|MYB_ENST00000528774.1_Splice_Site_p.V103A|MYB_ENST00000316528.8_Splice_Site_p.V103A|MYB_ENST00000534044.1_Splice_Site_p.V103A|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Splice_Site_p.V103A	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	103	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with HIPK2 and NLK. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TATCTGAAGGTGATAGAGCTT	0.353			T	NFIB	adenoid cystic carcinoma																																	dbGAP		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													98.0	96.0	97.0					6																	135511266		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.307-1T>C	6.37:g.135511266T>C			E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.V103A	ENST00000367814.4	37	c.308	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677386	0.88445	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.33216	2.6;2.15;2.16;2.16;1.42;1.86;2.6;2.58;1.83;2.2	5.85	5.85	0.93711	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.107851	0.64402	D	0.000006	T	0.51770	0.1694	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.996;0.994;0.996;1.0;0.999;0.994;1.0;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.998;0.984;0.972;0.995;0.998;0.995;0.972;0.999;0.998	T	0.59268	-0.7486	10	0.87932	D	0	-9.3101	16.2343	0.82363	0.0:0.0:0.0:1.0	.	103;103;103;103;103;103;103;103;103	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	A	103;103;103;103;103;103;79;103;103;103;103;103;57	ENSP00000339992:V103A;ENSP00000410825:V103A;ENSP00000326328:V103A;ENSP00000356788:V103A;ENSP00000433227:V103A;ENSP00000435938:V103A;ENSP00000434723:V103A;ENSP00000432851:V103A;ENSP00000435055:V103A;ENSP00000436605:V103A	ENSP00000237302:V103A	V	+	2	0	MYB	135552959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.234000	0.73211	0.533000	0.62120	GTG	MYB	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000118513		0.353	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	77	0.00	0	T		Missense_Mutation	135511266	135511266	+1	no_errors	ENST00000341911	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	1.000	C
NUP107	57122	genome.wustl.edu	37	12	69135710	69135710	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr12:69135710T>C	ENST00000229179.4	+	27	2952	c.2620T>C	c.(2620-2622)Tgc>Cgc	p.C874R	NUP107_ENST00000378905.2_Missense_Mutation_p.C635R|NUP107_ENST00000539906.1_Missense_Mutation_p.C845R	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	874					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTATCAGGAATGCCTACAGTT	0.388																																						dbGAP											0													213.0	189.0	197.0					12																	69135710		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2620T>C	12.37:g.69135710T>C	ENSP00000229179:p.Cys874Arg		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.C874R	ENST00000229179.4	37	c.2620	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869784	0.51588	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.51	5.51	0.81932	.	0.142110	0.64402	D	0.000005	T	0.77485	0.4137	M	0.78456	2.415	0.40273	D	0.978315	D;P;D	0.76494	0.999;0.834;0.998	D;B;D	0.70016	0.967;0.361;0.967	T	0.79841	-0.1633	8	.	.	.	-10.1457	12.4624	0.55738	0.0:0.0:0.1396:0.8604	.	845;635;874	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	R	874;635;845	.	.	C	+	1	0	NUP107	67421977	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	3.211000	0.51137	2.243000	0.73865	0.533000	0.62120	TGC	NUP107	-	pfam_Nup84_Nup100	ENSG00000111581		0.388	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	107	0.00	0	T	NM_020401		69135710	69135710	+1	no_errors	ENST00000229179	ensembl	human	known	69_37n	missense	33	26.67	12	SNP	0.997	C
OSBPL9	114883	genome.wustl.edu	37	1	52227617	52227617	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr1:52227617A>T	ENST00000428468.1	+	11	754	c.752A>T	c.(751-753)cAt>cTt	p.H251L	OSBPL9_ENST00000447887.1_Missense_Mutation_p.H261L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.H86L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.H256L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.H170L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.H238L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.H141L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.H86L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.H234L|OSBPL9_ENST00000371710.3_Missense_Mutation_p.H269L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.H73L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.H73L			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	251					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TTGGGACATCATCAGACTCCT	0.408																																						dbGAP											0													149.0	147.0	148.0					1																	52227617		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.752A>T	1.37:g.52227617A>T	ENSP00000407168:p.His251Leu		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H269L	ENST00000428468.1	37	c.806	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901681	0.33535	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000532975;ENST00000527631;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61	5.48	4.29	0.51040	.	0.310912	0.34268	N	0.004102	T	0.04770	0.0129	N	0.03115	-0.41	0.30359	N	0.784038	B;B;B;B;B	0.14438	0.01;0.0;0.0;0.0;0.0	B;B;B;B;B	0.12156	0.007;0.0;0.0;0.0;0.0	T	0.30937	-0.9961	10	0.07813	T	0.8	-9.3649	7.665	0.28426	0.7864:0.141:0.0726:0.0	.	234;141;267;251;256	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	L	238;269;256;261;86;251;234;170;73;86;86;141;73;73	ENSP00000360779:H238L;ENSP00000360775:H269L;ENSP00000337265:H256L;ENSP00000412733:H261L;ENSP00000402646:H86L;ENSP00000407168:H251L;ENSP00000413263:H234L;ENSP00000433675:H170L;ENSP00000432801:H73L;ENSP00000435129:H86L;ENSP00000433083:H86L;ENSP00000354970:H141L;ENSP00000433279:H73L;ENSP00000431980:H73L	ENSP00000337265:H256L	H	+	2	0	OSBPL9	52000205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.327000	0.52045	2.205000	0.71048	0.533000	0.62120	CAT	OSBPL9	-	NULL	ENSG00000117859		0.408	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	82	0.00	0	A			52227617	52227617	+1	no_errors	ENST00000371710	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	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		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	55	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	28	42.86	21	SNP	1.000	G
PLD6	201164	genome.wustl.edu	37	17	17106185	17106185	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr17:17106185G>A	ENST00000321560.3	-	2	683	c.655C>T	c.(655-657)Cca>Tca	p.P219S	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	219					DNA methylation involved in gamete generation (GO:0043046)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|meiotic nuclear division (GO:0007126)|mitochondrial fusion (GO:0008053)|P granule organization (GO:0030719)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|piRNA metabolic process (GO:0034587)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	cardiolipin hydrolase activity (GO:0035755)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(1)	2						CTTTTCTTTGGTGGGAAAAAG	0.507																																						dbGAP											0													87.0	82.0	84.0					17																	17106185		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090899	CCDS11182.1	17p11.2	2008-08-14			ENSG00000179598	ENSG00000179598			30447	protein-coding gene	gene with protein product		614960				12477932	Standard	NM_178836		Approved		uc002gqz.3	Q8N2A8	OTTHUMG00000059278	ENST00000321560.3:c.655C>T	17.37:g.17106185G>A	ENSP00000317177:p.Pro219Ser		Q8N5Y1	Missense_Mutation	SNP	smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.P219S	ENST00000321560.3	37	c.655	CCDS11182.1	17	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065723	0.36470	.	.	ENSG00000179598	ENST00000321560	T	0.31510	1.49	5.3	5.3	0.74995	.	0.341562	0.27429	N	0.019404	T	0.14442	0.0349	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.05354	-1.0890	10	0.49607	T	0.09	-18.928	5.0422	0.14465	0.0769:0.2499:0.5373:0.1359	.	219	Q8N2A8	PLD6_HUMAN	S	219	ENSP00000317177:P219S	ENSP00000317177:P219S	P	-	1	0	PLD6	17046910	0.003000	0.15002	0.212000	0.23672	0.264000	0.26372	0.532000	0.23067	2.643000	0.89663	0.655000	0.94253	CCA	PLD6	-	NULL	ENSG00000179598		0.507	PLD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD6	HGNC	protein_coding	OTTHUMT00000131600.2	42	0.00	0	G	NM_178836		17106185	17106185	-1	no_errors	ENST00000321560	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	0.054	A
RHOBTB1	9886	genome.wustl.edu	37	10	62671216	62671216	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr10:62671216G>A	ENST00000337910.5	-	3	422	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	RNU2-72P_ENST00000411175.1_RNA|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R29C	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	29	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CAGATCAAGCGCGTCTTCCCC	0.542																																						dbGAP											0													228.0	199.0	209.0					10																	62671216		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.85C>T	10.37:g.62671216G>A	ENSP00000338671:p.Arg29Cys			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.R29C	ENST00000337910.5	37	c.85	CCDS7261.1	10	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701182	0.88924	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	T;T	0.20598	2.06;2.06	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	N	0.02708	-0.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46925	-0.9156	10	0.27785	T	0.31	.	19.8397	0.96678	0.0:0.0:1.0:0.0	.	29	O94844	RHBT1_HUMAN	C	29	ENSP00000350595:R29C;ENSP00000338671:R29C	ENSP00000338671:R29C	R	-	1	0	RHOBTB1	62341222	1.000000	0.71417	0.962000	0.40283	0.894000	0.52154	7.754000	0.85163	2.774000	0.95407	0.484000	0.47621	CGC	RHOBTB1	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase	ENSG00000072422		0.542	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	HGNC	protein_coding	OTTHUMT00000048220.1	65	0.00	0	G			62671216	62671216	-1	no_errors	ENST00000337910	ensembl	human	known	69_37n	missense	34	30.61	15	SNP	1.000	A
RBM20	282996	genome.wustl.edu	37	10	112583260	112583260	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr10:112583260G>T	ENST00000369519.3	+	12	3397	c.3339G>T	c.(3337-3339)atG>atT	p.M1113I		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	1113					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						ACGTGGAAATGAAATCTCTGG	0.403																																						dbGAP											0													62.0	61.0	61.0					10																	112583260		692	1591	2283	-	-	-	SO:0001583	missense	0			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.3339G>T	10.37:g.112583260G>T	ENSP00000358532:p.Met1113Ile		A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.M1113I	ENST00000369519.3	37	c.3339	CCDS44477.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.79|10.79	1.450046|1.450046	0.26074|0.26074	.|.	.|.	ENSG00000203867|ENSG00000203867	ENST00000369519|ENST00000539821	T|.	0.74421|.	-0.84|.	6.16|6.16	3.26|3.26	0.37387|0.37387	.|.	.|.	.|.	.|.	.|.	T|.	0.33760|.	0.0874|.	L|L	0.29908|0.29908	0.895|0.895	0.20975|0.20975	N|N	0.999815|0.999815	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.19128|.	-1.0315|.	9|.	0.14656|.	T|.	0.56|.	2.1801|2.1801	9.6677|9.6677	0.39994|0.39994	0.1357:0.2677:0.5966:0.0|0.1357:0.2677:0.5966:0.0	.|.	1113|.	Q5T481|.	RBM20_HUMAN|.	I|L	1113|1126	ENSP00000358532:M1113I|.	ENSP00000358532:M1113I|.	M|X	+|+	3|2	0|2	RBM20|RBM20	112573250|112573250	0.996000|0.996000	0.38824|0.38824	0.768000|0.768000	0.31515|0.31515	0.835000|0.835000	0.47333|0.47333	0.660000|0.660000	0.25009|0.25009	0.927000|0.927000	0.37143|0.37143	0.650000|0.650000	0.86243|0.86243	ATG|TGA	RBM20	-	NULL	ENSG00000203867		0.403	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	31	0.00	0	G	NM_001134363		112583260	112583260	+1	no_errors	ENST00000369519	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.821	T
SCN9A	6335	genome.wustl.edu	37	2	167141168	167141171	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr2:167141168_167141171delACAA	ENST00000409435.1	-	11	1765_1768	c.1766_1769delTTGT	c.(1765-1770)tttgtgfs	p.FV589fs	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.FV590fs|SCN9A_ENST00000375387.4_Frame_Shift_Del_p.FV590fs|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.FV589fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	589					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTGTGGGGCACAAACAGTGAGCC	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1766_1769delTTGT	2.37:g.167141168_167141171delACAA	ENSP00000386330:p.Phe589fs		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.F590fs	ENST00000409435.1	37	c.1772_1769	CCDS46441.1	2																																																																																			SCN9A	-	pfam_DUF3451	ENSG00000169432		0.525	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	47	0.00	0	ACAA	NM_002977		167141168	167141171	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	frame_shift_del	40	16.00	8	DEL	1.000:0.499:0.383:1.000	-
SEC24A	10802	genome.wustl.edu	37	5	133996823	133996823	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr5:133996823G>A	ENST00000398844.2	+	2	400	c.112G>A	c.(112-114)Gca>Aca	p.A38T	SEC24A_ENST00000322887.4_Missense_Mutation_p.A38T	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	38					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCCAAAATGCATTGCTGTC	0.378																																						dbGAP											0													239.0	235.0	236.0					5																	133996823		1898	4112	6010	-	-	-	SO:0001583	missense	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.112G>A	5.37:g.133996823G>A	ENSP00000381823:p.Ala38Thr		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.A38T	ENST00000398844.2	37	c.112	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786587	0.31593	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97089	-4.24;-4.24	5.78	-0.808	0.10868	.	1.094290	0.07282	N	0.870914	D	0.90300	0.6966	N	0.12182	0.205	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.80939	-0.1158	10	0.10111	T	0.7	5.7197	7.4977	0.27498	0.3412:0.4237:0.235:0.0	.	38	O95486	SC24A_HUMAN	T	38	ENSP00000381823:A38T;ENSP00000321749:A38T	ENSP00000321749:A38T	A	+	1	0	SEC24A	134024722	0.767000	0.28508	0.390000	0.26220	0.988000	0.76386	0.197000	0.17197	-0.140000	0.11394	0.655000	0.94253	GCA	SEC24A	-	NULL	ENSG00000113615		0.378	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	40	0.00	0	G			133996823	133996823	+1	no_errors	ENST00000398844	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	0.648	A
SLC6A14	11254	genome.wustl.edu	37	X	115574821	115574821	+	Silent	SNP	T	T	C			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chrX:115574821T>C	ENST00000371900.4	+	5	607	c.519T>C	c.(517-519)tgT>tgC	p.C173C		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	173					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TAACTCACTGTAATGTGAGTA	0.303																																						dbGAP											0													60.0	53.0	56.0					X																	115574821		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.519T>C	X.37:g.115574821T>C			Q5H942	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.C173	ENST00000371900.4	37	c.519	CCDS14570.1	X																																																																																			SLC6A14	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000087916		0.303	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1	53	0.00	0	T			115574821	115574821	+1	no_errors	ENST00000371900	ensembl	human	known	69_37n	silent	24	29.41	10	SNP	0.998	C
TPRXL	348825	genome.wustl.edu	37	3	14106354	14106354	+	Silent	SNP	C	C	T			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr3:14106354C>T	ENST00000424053.1	+	3	1225	c.678C>T	c.(676-678)agC>agT	p.S226S	TPRXL_ENST00000429201.1_Silent_p.S226S|TPRXL_ENST00000326972.8_Silent_p.S226S|TPRXL_ENST00000532753.1_Intron			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like	0	Ser-rich.									endometrium(1)	1						gcagcagcagccccagcagca	0.701																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509	ENST00000424053.1:c.678C>T	3.37:g.14106354C>T			Q8NAM5	Silent	SNP	NULL	p.S226	ENST00000424053.1	37	c.678		3																																																																																			TPRXL	-	NULL	ENSG00000180438		0.701	TPRXL-003	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	TPRXL	HGNC	protein_coding	OTTHUMT00000340436.1	8	0.00	0	C	NR_002223		14106354	14106354	+1	no_errors	ENST00000326972	ensembl	human	known	69_37n	silent	3	57.14	4	SNP	0.580	T
TTYH1	57348	genome.wustl.edu	37	19	54941109	54941109	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr19:54941109C>G	ENST00000376530.3	+	7	960	c.857C>G	c.(856-858)aCc>aGc	p.T286S	TTYH1_ENST00000391739.3_Missense_Mutation_p.T335S|TTYH1_ENST00000301194.4_Missense_Mutation_p.T286S|TTYH1_ENST00000376531.3_Missense_Mutation_p.T286S|TTYH1_ENST00000489425.1_3'UTR|AC008746.3_ENST00000457113.1_RNA	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	286					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTGAACCTGACCCAGGAGGAG	0.612																																						dbGAP											0													75.0	70.0	72.0					19																	54941109		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.857C>G	19.37:g.54941109C>G	ENSP00000365713:p.Thr286Ser		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	pfam_Tweety	p.T286S	ENST00000376530.3	37	c.857	CCDS12893.1	19	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286618	0.80803	.	.	ENSG00000167614	ENST00000301194;ENST00000376530;ENST00000391739;ENST00000376531	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.21	4.21	0.49690	.	0.000000	0.85682	U	0.000000	T	0.35393	0.0930	M	0.71581	2.175	0.42596	D	0.993269	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.996;0.998;0.998;0.997;0.992	T	0.10989	-1.0606	10	0.44086	T	0.13	-24.5682	14.4152	0.67145	0.0:1.0:0.0:0.0	.	335;198;286;286;286	B7Z1H9;Q9H313-5;Q9H313-2;Q9H313-3;Q9H313	.;.;.;.;TTYH1_HUMAN	S	286;286;335;286	ENSP00000301194:T286S;ENSP00000365713:T286S;ENSP00000375619:T335S;ENSP00000365714:T286S	ENSP00000301194:T286S	T	+	2	0	TTYH1	59632921	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.944000	0.70219	2.050000	0.60909	0.455000	0.32223	ACC	TTYH1	-	pfam_Tweety	ENSG00000167614		0.612	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1	48	0.00	0	C			54941109	54941109	+1	no_errors	ENST00000376531	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	G
ULK3	25989	genome.wustl.edu	37	15	75131031	75131031	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr15:75131031T>C	ENST00000440863.2	-	10	1146	c.1055A>G	c.(1054-1056)aAt>aGt	p.N352S	ULK3_ENST00000569437.1_Missense_Mutation_p.N352S|ULK3_ENST00000568667.1_Missense_Mutation_p.N363S	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	352					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						CAGGGCCTGATTGGAAGAGGA	0.647																																						dbGAP											0													32.0	36.0	35.0					15																	75131031		1954	4143	6097	-	-	-	SO:0001583	missense	0			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.1055A>G	15.37:g.75131031T>C	ENSP00000400312:p.Asn352Ser		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_cat_dom	p.N352S	ENST00000440863.2	37	c.1055	CCDS45305.1	15	.	.	.	.	.	.	.	.	.	.	T	12.67	2.008193	0.35415	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.20598	2.06	5.29	1.63	0.23807	MIT (1);	.	.	.	.	T	0.13586	0.0329	L	0.35723	1.085	0.35694	D	0.815089	B;B;B;B	0.16396	0.006;0.011;0.006;0.017	B;B;B;B	0.12156	0.007;0.005;0.006;0.007	T	0.18335	-1.0340	9	0.22706	T	0.39	-8.647	5.6071	0.17385	0.0:0.1559:0.1449:0.6992	.	363;262;352;352	B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;ULK3_HUMAN;.	S	352;363	ENSP00000400312:N352S	ENSP00000393658:N363S	N	-	2	0	ULK3	72918084	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	2.325000	0.43840	0.022000	0.15160	0.402000	0.26972	AAT	ULK3	-	smart_MIT	ENSG00000140474		0.647	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ULK3	HGNC	protein_coding	OTTHUMT00000421734.4	19	0.00	0	T	NM_015518		75131031	75131031	-1	no_errors	ENST00000440863	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	1.000	C
VSIG1	340547	genome.wustl.edu	37	X	107310235	107310235	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chrX:107310235G>T	ENST00000217957.5	+	3	400	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000415430.3_Missense_Mutation_p.D131Y	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	95	Ig-like V-type 1.					integral component of membrane (GO:0016021)		p.D131N(1)|p.D95N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						AGGGTCCAACGATCCAGGTAA	0.433																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											159.0	135.0	143.0					X																	107310235		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.283G>T	X.37:g.107310235G>T	ENSP00000217957:p.Asp95Tyr		C9J4P2|Q6MZS4	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D131Y	ENST00000217957.5	37	c.391	CCDS14535.1	X	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534354	0.27475	.	.	ENSG00000101842	ENST00000415430;ENST00000217957;ENST00000458383	T;T;T	0.68331	-0.32;-0.32;-0.32	5.19	-4.43	0.03568	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.315700	0.00682	N	0.000686	T	0.63861	0.2547	N	0.24115	0.695	0.09310	N	1	D;D	0.60160	0.987;0.983	P;P	0.56163	0.793;0.715	T	0.60078	-0.7333	10	0.62326	D	0.03	.	8.034	0.30482	0.6647:0.12:0.2153:0.0	.	131;95	C9J4P2;Q86XK7	.;VSIG1_HUMAN	Y	131;95;131	ENSP00000402219:D131Y;ENSP00000217957:D95Y;ENSP00000407102:D131Y	ENSP00000217957:D95Y	D	+	1	0	VSIG1	107196891	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.099000	0.15210	-0.856000	0.04120	-0.390000	0.06520	GAT	VSIG1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000101842		0.433	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	53	0.00	0	G	NM_182607		107310235	107310235	+1	no_errors	ENST00000415430	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	0.000	T
ZNF879	345462	genome.wustl.edu	37	5	178459857	178459857	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A1FZ-01A-51D-A17G-09	TCGA-A2-A1FZ-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0f7038bb-fd25-468e-8bd9-dcd4312d13cb	d8d7bb7f-6f0a-4eb4-aa04-61b5bffb24e1	g.chr5:178459857T>A	ENST00000444149.2	+	5	1096	c.908T>A	c.(907-909)cTt>cAt	p.L303H		NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						AGTTCATCTCTTAATAATCAC	0.418																																						dbGAP											0													47.0	42.0	44.0					5																	178459857		692	1591	2283	-	-	-	SO:0001583	missense	0			AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.908T>A	5.37:g.178459857T>A	ENSP00000414887:p.Leu303His			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.L303H	ENST00000444149.2	37	c.908	CCDS47352.1	5	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126180	0.37533	.	.	ENSG00000234284	ENST00000444149	T	0.54071	0.59	4.59	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75354	0.3838	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.79184	-0.1908	9	0.72032	D	0.01	-10.4791	6.9658	0.24623	0.0:0.1011:0.0:0.8988	.	303	B4DU55	ZN879_HUMAN	H	303	ENSP00000414887:L303H	ENSP00000414887:L303H	L	+	2	0	ZNF879	178392463	0.997000	0.39634	0.937000	0.37676	0.290000	0.27261	5.924000	0.70054	2.039000	0.60335	0.482000	0.46254	CTT	ZNF879	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000234284		0.418	ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF879	HGNC	protein_coding	OTTHUMT00000374447.1	35	0.00	0	T	NM_001136116		178459857	178459857	+1	no_errors	ENST00000444149	ensembl	human	known	69_37n	missense	10	50.00	10	SNP	0.849	A
