#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
AHNAK2	113146	genome.wustl.edu	37	14	105417180	105417180	+	Silent	SNP	G	G	C	rs201828332	byFrequency	TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr14:105417180G>C	ENST00000333244.5	-	7	4727	c.4608C>G	c.(4606-4608)ctC>ctG	p.L1536L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1536						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTGGCCTTGAGGTCCCCCT	0.652													.|||	8	0.00159744	0.0053	0.0	5008	,	,		14281	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													122.0	110.0	114.0					14																	105417180		1956	4073	6029	-	-	-	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4608C>G	14.37:g.105417180G>C			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L1536	ENST00000333244.5	37	c.4608	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.652	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	117	0.00	0	G	NM_138420		105417180	105417180	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	silent	69	25.00	23	SNP	0.000	C
AKAP9	10142	genome.wustl.edu	37	7	91718705	91718705	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr7:91718705G>C	ENST00000359028.2	+	38	9457	c.9232G>C	c.(9232-9234)Gaa>Caa	p.E3078Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E3024Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E3074Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3078					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGGGTGTTGAATATCAAGC	0.368			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													123.0	120.0	121.0					7																	91718705		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9232G>C	7.37:g.91718705G>C	ENSP00000351922:p.Glu3078Gln		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.E3078Q	ENST00000359028.2	37	c.9232		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.825|9.825	1.186959|1.186959	0.21870|0.21870	.|.	.|.	ENSG00000127914|ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534|ENST00000435423	T;T;T;T|.	0.03124|.	4.12;4.12;4.11;4.04|.	5.01|5.01	4.1|4.1	0.47936|0.47936	.|.	0.168916|.	0.28409|.	N|.	0.015445|.	T|T	0.43523|0.43523	0.1251|0.1251	L|L	0.46157|0.46157	1.445|1.445	0.32870|0.32870	D|D	0.509127|0.509127	P;B;B;B;B|.	0.40332|.	0.713;0.17;0.106;0.17;0.17|.	B;B;B;B;B|.	0.37198|.	0.243;0.067;0.031;0.067;0.067|.	T|T	0.53837|0.53837	-0.8382|-0.8382	10|5	0.11485|.	T|.	0.65|.	.|.	5.0881|5.0881	0.14693|0.14693	0.0841:0.1487:0.6135:0.1537|0.0841:0.1487:0.6135:0.1537	.|.	3078;3078;3078;3074;3066|.	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3|.	.;.;AKAP9_HUMAN;.;.|.	Q|F	3074;3078;3024;3078;920|218	ENSP00000348573:E3074Q;ENSP00000351922:E3078Q;ENSP00000350813:E3024Q;ENSP00000378042:E920Q|.	ENSP00000348573:E3074Q|.	E|L	+|+	1|3	0|2	AKAP9|AKAP9	91556641|91556641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.856000|0.856000	0.48823|0.48823	0.957000|0.957000	0.29215|0.29215	1.441000|1.441000	0.47550|0.47550	0.591000|0.591000	0.81541|0.81541	GAA|TTG	AKAP9	-	NULL	ENSG00000127914		0.368	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		78	0.00	0	G	NM_005751		91718705	91718705	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	missense	74	15.91	14	SNP	0.994	C
ALOX5AP	241	genome.wustl.edu	37	13	31338226	31338226	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr13:31338226C>G	ENST00000380490.3	+	5	567	c.469C>G	c.(469-471)Cta>Gta	p.L157V		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	157					arachidonic acid metabolic process (GO:0019369)|cellular response to calcium ion (GO:0071277)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|positive regulation of acute inflammatory response (GO:0002675)|protein homotrimerization (GO:0070207)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	arachidonic acid binding (GO:0050544)|enzyme activator activity (GO:0008047)|protein N-terminus binding (GO:0047485)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		CATCTCCCCTCTACTTCTCAT	0.418																																						dbGAP											0													204.0	177.0	186.0					13																	31338226		2203	4300	6503	-	-	-	SO:0001583	missense	0			AH001462	CCDS9337.1, CCDS73558.1	13q12	2008-07-18			ENSG00000132965	ENSG00000132965			436	protein-coding gene	gene with protein product	"""five-lipoxygenase activating protein"", ""MK-886-binding protein"""	603700				1673682, 10036194	Standard	NM_001629		Approved	FLAP	uc010tdr.2	P20292	OTTHUMG00000016677	ENST00000380490.3:c.469C>G	13.37:g.31338226C>G	ENSP00000369858:p.Leu157Val		Q5VV04	Missense_Mutation	SNP	pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP	p.L157V	ENST00000380490.3	37	c.469	CCDS9337.1	13	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776943	0.49786	.	.	ENSG00000132965	ENST00000380490	T	0.79247	-1.25	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83954	0.5366	L	0.59436	1.845	0.54753	D	0.999985	D	0.63880	0.993	D	0.70016	0.967	D	0.85039	0.0922	10	0.87932	D	0	-27.3058	10.2823	0.43548	0.0:0.8466:0.0:0.1534	.	157	P20292	AL5AP_HUMAN	V	157	ENSP00000369858:L157V	ENSP00000369858:L157V	L	+	1	2	ALOX5AP	30236226	0.994000	0.37717	0.828000	0.32881	0.476000	0.33039	2.884000	0.48562	2.395000	0.81488	0.655000	0.94253	CTA	ALOX5AP	-	NULL	ENSG00000132965		0.418	ALOX5AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5AP	HGNC	protein_coding	OTTHUMT00000044372.1	67	0.00	0	C	NM_001629		31338226	31338226	+1	no_errors	ENST00000380490	ensembl	human	known	69_37n	missense	72	16.28	14	SNP	0.959	G
ANKRD11	29123	genome.wustl.edu	37	16	89351908	89351908	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr16:89351908C>T	ENST00000301030.4	-	9	1502	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E348K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	348					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCATCAAACTCATACTCGTCC	0.517																																						dbGAP											0													153.0	152.0	152.0					16																	89351908		2198	4300	6498	-	-	-	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1042G>A	16.37:g.89351908C>T	ENSP00000301030:p.Glu348Lys		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E348K	ENST00000301030.4	37	c.1042	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508634	0.85282	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.47869	0.83;0.83	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.67878	0.2940	M	0.64404	1.975	0.80722	D	1	D	0.59767	0.986	D	0.69654	0.965	T	0.68969	-0.5269	10	0.87932	D	0	.	19.8716	0.96853	0.0:1.0:0.0:0.0	.	348	Q6UB99	ANR11_HUMAN	K	348;348;362	ENSP00000301030:E348K;ENSP00000367581:E348K	ENSP00000301030:E348K	E	-	1	0	ANKRD11	87879409	1.000000	0.71417	0.996000	0.52242	0.471000	0.32888	7.622000	0.83099	2.704000	0.92352	0.563000	0.77884	GAG	ANKRD11	-	NULL	ENSG00000167522		0.517	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	111	0.00	0	C	NM_013275		89351908	89351908	-1	no_errors	ENST00000301030	ensembl	human	known	69_37n	missense	67	26.37	24	SNP	1.000	T
BBS12	166379	genome.wustl.edu	37	4	123664254	123664254	+	Missense_Mutation	SNP	G	G	A	rs78000298	byFrequency	TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr4:123664254G>A	ENST00000314218.3	+	2	1400	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	BBS12_ENST00000542236.1_Missense_Mutation_p.V403M	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	403					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CGTGTTACAGGTGTTAATCCA	0.408									Bardet-Biedl syndrome				G|||	32	0.00638978	0.0	0.0	5008	,	,		22803	0.0317		0.0	False		,,,				2504	0.0					dbGAP											0													68.0	73.0	71.0					4																	123664254		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1207G>A	4.37:g.123664254G>A	ENSP00000319062:p.Val403Met		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.V403M	ENST00000314218.3	37	c.1207	CCDS3728.1	4	21	0.009615384615384616	0	0.0	0	0.0	21	0.03671328671328671	0	0.0	G	8.898	0.955655	0.18507	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.78595	-1.19;-1.19	5.58	-0.206	0.13193	.	0.427001	0.24508	N	0.037911	T	0.33294	0.0858	L	0.54323	1.7	0.09310	N	1	B	0.31125	0.309	B	0.28232	0.087	T	0.34650	-0.9820	10	0.25751	T	0.34	-23.2432	7.1293	0.25490	0.4843:0.1182:0.3976:0.0	.	403	Q6ZW61	BBS12_HUMAN	M	403	ENSP00000319062:V403M;ENSP00000438273:V403M	ENSP00000319062:V403M	V	+	1	0	BBS12	123883704	0.009000	0.17119	0.000000	0.03702	0.084000	0.17831	-0.003000	0.12901	-0.004000	0.14419	-0.142000	0.14014	GTG	BBS12	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000181004		0.408	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	35	0.00	0	G	NM_152618		123664254	123664254	+1	no_errors	ENST00000314218	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	0.001	A
DHX9	1660	genome.wustl.edu	37	1	182836152	182836152	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr1:182836152G>T	ENST00000367549.3	+	14	1641	c.1531G>T	c.(1531-1533)Gat>Tat	p.D511Y		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	511	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGTAATTGTAGATGAAATACA	0.313																																					Colon(69;210 1162 3697 13559 39565)	dbGAP											0													162.0	146.0	151.0					1																	182836152		1827	4084	5911	-	-	-	SO:0001583	missense	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1531G>T	1.37:g.182836152G>T	ENSP00000356520:p.Asp511Tyr		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.D511Y	ENST00000367549.3	37	c.1531	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480810	0.84747	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.62232	0.04	5.36	5.36	0.76844	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.052685	0.64402	D	0.000001	D	0.89206	0.6649	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94105	0.7365	10	0.87932	D	0	.	17.8433	0.88721	0.0:0.0:1.0:0.0	.	511	Q08211	DHX9_HUMAN	Y	511	ENSP00000356520:D511Y	ENSP00000356520:D511Y	D	+	1	0	DHX9	181102775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.869000	0.92326	2.514000	0.84764	0.591000	0.81541	GAT	DHX9	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000135829		0.313	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	16	0.00	0	G	NM_030588		182836152	182836152	+1	no_errors	ENST00000367549	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	T
METTL21B	25895	genome.wustl.edu	37	12	58176985	58176985	+	IGR	SNP	C	C	T			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr12:58176985C>T	ENST00000300209.8	+	0	2563				TSFM_ENST00000548851.1_Silent_p.L50L|TSFM_ENST00000543727.1_Silent_p.L50L|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000454289.3_Silent_p.L50L|TSFM_ENST00000323833.8_Silent_p.L50L|RP11-571M6.15_ENST00000471530.1_Missense_Mutation_p.S65L|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000550559.1_Silent_p.L50L|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000540550.1_Silent_p.L50L	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						AGGAGCTCCTCATGAAGCTGC	0.572											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													90.0	99.0	96.0					12																	58176985		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58176985C>T		1028	Q9H749|Q9Y3W2	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.S65L	ENST00000300209.8	37	c.194	CCDS8957.1	12	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514446	0.27123	.	.	ENSG00000257921	ENST00000546504	.	.	.	5.29	2.03	0.26663	.	.	.	.	.	T	0.23727	0.0574	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17319	-1.0373	5	0.02654	T	1	.	4.6981	0.12813	0.0:0.3594:0.3547:0.2858	.	.	.	.	Y	57	.	ENSP00000449544:H57Y	H	+	1	0	RP11-571M6.15	56463252	0.974000	0.33945	0.855000	0.33649	0.657000	0.38888	0.506000	0.22658	0.648000	0.30732	0.462000	0.41574	CAT	RP11-571M6.15	-	NULL	ENSG00000257921		0.572	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257921	Clone_based_vega_gene	protein_coding	OTTHUMT00000409268.1	25	0.00	0	C	NM_015433		58176985	58176985	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000471530	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.974	T
DTX1	1840	genome.wustl.edu	37	12	113534596	113534596	+	Nonsense_Mutation	SNP	C	C	A	rs144113606		TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr12:113534596C>A	ENST00000257600.3	+	9	2218	c.1715C>A	c.(1714-1716)tCg>tAg	p.S572*	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	572					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ACGGGCGAGTCGGACACCGTG	0.617																																						dbGAP											0													82.0	55.0	64.0					12																	113534596		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1715C>A	12.37:g.113534596C>A	ENSP00000257600:p.Ser572*		O60630|Q9BS04	Nonsense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.S572*	ENST00000257600.3	37	c.1715	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	C	42	9.551669	0.99202	.	.	ENSG00000135144	ENST00000257600	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3606	17.0651	0.86557	0.0:1.0:0.0:0.0	.	.	.	.	X	572	.	ENSP00000257600:S572X	S	+	2	0	DTX1	112018979	1.000000	0.71417	0.991000	0.47740	0.541000	0.35023	4.892000	0.63193	2.306000	0.77630	0.561000	0.74099	TCG	DTX1	-	NULL	ENSG00000135144		0.617	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	67	0.00	0	C			113534596	113534596	+1	no_errors	ENST00000257600	ensembl	human	known	69_37n	nonsense	49	31.94	23	SNP	1.000	A
EPB41L3	23136	genome.wustl.edu	37	18	5433996	5433996	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr18:5433996C>T	ENST00000341928.2	-	7	1070	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E244K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E244K|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E244K|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E244K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	244	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCCCACATTCATCTGGGTCA	0.517																																						dbGAP											0													224.0	199.0	207.0					18																	5433996		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.730G>A	18.37:g.5433996C>T	ENSP00000343158:p.Glu244Lys		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E244K	ENST00000341928.2	37	c.730	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992719	0.74703	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	6.16	6.16	0.99307	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.086825	0.85682	D	0.000000	D	0.85801	0.5781	L	0.47716	1.5	0.80722	D	1	D;B;D;D;B	0.67145	0.987;0.426;0.996;0.995;0.312	D;B;D;D;B	0.74348	0.956;0.147;0.983;0.971;0.307	D	0.84483	0.0606	10	0.54805	T	0.06	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	244;244;135;244;244	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	K	244;135;244;135;244;244	ENSP00000343158:E244K;ENSP00000441174:E244K;ENSP00000341138:E244K;ENSP00000382981:E244K	ENSP00000343158:E244K	E	-	1	0	EPB41L3	5423996	1.000000	0.71417	0.961000	0.40146	0.291000	0.27294	7.601000	0.82783	2.937000	0.99478	0.650000	0.86243	GAA	EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000082397		0.517	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	40	0.00	0	C	NM_012307		5433996	5433996	-1	no_errors	ENST00000341928	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	1.000	T
FAT1	2195	genome.wustl.edu	37	4	187535469	187535469	+	Silent	SNP	G	G	A			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr4:187535469G>A	ENST00000441802.2	-	12	9314	c.9105C>T	c.(9103-9105)gaC>gaT	p.D3035D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3035	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGGAAGGACGTCTTCAGGAA	0.398										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													108.0	103.0	105.0					4																	187535469		1877	4107	5984	-	-	-	SO:0001819	synonymous_variant	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9105C>T	4.37:g.187535469G>A				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.D3035	ENST00000441802.2	37	c.9105	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000083857		0.398	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	38	0.00	0	G	NM_005245		187535469	187535469	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	silent	33	17.50	7	SNP	0.950	A
RPL23AP87	388574	genome.wustl.edu	37	17	81187931	81187931	+	RNA	SNP	G	G	A	rs534861947		TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr17:81187931G>A	ENST00000425566.1	+	0	1614					NR_029406.1																						TCAAGTTTCCGCTGGCCACTG	0.532													.|||	1	0.000199681	0.0008	0.0	5008	,	,		7893	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0																															17.37:g.81187931G>A				RNA	SNP	-	NULL	ENST00000425566.1	37	NULL		17																																																																																			AC139099.3	-	-	ENSG00000232938		0.532	AC139099.3-002	KNOWN	basic	processed_transcript	FLJ43681	Clone_based_vega_gene	pseudogene	OTTHUMT00000438917.1	123	0.00	0	G			81187931	81187931	+1	no_errors	ENST00000425566	ensembl	human	known	69_37n	rna	68	18.07	15	SNP	0.995	A
FRG1	2483	genome.wustl.edu	37	4	190878562	190878562	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr4:190878562G>C	ENST00000226798.4	+	6	664	c.442G>C	c.(442-444)Gct>Cct	p.A148P	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	148					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGGGAAAATGGCTTTGTTGGC	0.363																																						dbGAP											0													12.0	17.0	16.0					4																	190878562		2131	4254	6385	-	-	-	SO:0001583	missense	0			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.442G>C	4.37:g.190878562G>C	ENSP00000226798:p.Ala148Pro		A8K775	Missense_Mutation	SNP	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	p.A148P	ENST00000226798.4	37	c.442	CCDS34121.1	4	.	.	.	.	.	.	.	.	.	.	.	19.12	3.766684	0.69878	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.58506	1.64;0.33	4.19	4.19	0.49359	Actin cross-linking (1);	0.049541	0.85682	D	0.000000	T	0.79545	0.4464	M	0.90369	3.11	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.84484	0.0607	10	0.72032	D	0.01	9.1062	14.4711	0.67517	0.0:0.0:1.0:0.0	.	148	Q14331	FRG1_HUMAN	P	148;20;85	ENSP00000226798:A148P;ENSP00000435943:A85P	ENSP00000226798:A148P	A	+	1	0	FRG1	191115556	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	9.545000	0.98095	2.063000	0.61619	0.454000	0.30748	GCT	FRG1	-	pfam_FRG1,superfamily_Actin_cross-linking	ENSG00000109536		0.363	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4	74	0.00	0	G	NM_004477		190878562	190878562	+1	no_errors	ENST00000226798	ensembl	human	known	69_37n	missense	63	11.27	8	SNP	1.000	C
GOLGA8T	653075	genome.wustl.edu	37	15	30437636	30437636	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr15:30437636G>A	ENST00000569052.1	+	19	1762	c.1762G>A	c.(1762-1764)Gcc>Acc	p.A588T	RN7SL469P_ENST00000491512.2_RNA|AC120045.2_ENST00000408858.1_RNA					golgin A8 family, member T																		CCAAGGAGAGGCCAGGGAGGA	0.612																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					15q13.2	2013-01-17			ENSG00000261247	ENSG00000261247			44410	other	unknown							Standard	NR_033933		Approved		uc021sha.1		OTTHUMG00000175638	ENST00000569052.1:c.1762G>A	15.37:g.30437636G>A	ENSP00000455826:p.Ala588Thr			Missense_Mutation	SNP	NULL	p.A588T	ENST00000569052.1	37	c.1762		15																																																																																			RP5-1086D14.3	-	NULL	ENSG00000261247		0.612	GOLGA8T-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8J	Clone_based_vega_gene	protein_coding	OTTHUMT00000430690.1	9	0.00	0	G	NR_033933		30437636	30437636	+1	no_errors	ENST00000569052	ensembl	human	novel	69_37n	missense	4	50.00	4	SNP	0.079	A
HDAC1	3065	genome.wustl.edu	37	1	32790085	32790085	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr1:32790085G>A	ENST00000373548.3	+	4	370	c.286G>A	c.(286-288)Gtt>Att	p.V96I	HDAC1_ENST00000373541.2_De_novo_Start_OutOfFrame	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	96	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TCAAGTCAACGTTGGTGAGGA	0.388																																						dbGAP											0													272.0	234.0	247.0					1																	32790085		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.286G>A	1.37:g.32790085G>A	ENSP00000362649:p.Val96Ile		Q92534	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.V96I	ENST00000373548.3	37	c.286	CCDS360.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184243	0.78677	.	.	ENSG00000116478	ENST00000373548	T	0.69685	-0.42	5.2	5.2	0.72013	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	L	0.38838	1.175	0.80722	D	1	B;P	0.39352	0.013;0.669	B;B	0.35039	0.014;0.194	T	0.62817	-0.6774	10	0.49607	T	0.09	-8.6806	19.1337	0.93417	0.0:0.0:1.0:0.0	.	96;96	B4DSK9;Q13547	.;HDAC1_HUMAN	I	96	ENSP00000362649:V96I	ENSP00000362649:V96I	V	+	1	0	HDAC1	32562672	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	9.605000	0.98321	2.607000	0.88179	0.655000	0.94253	GTT	HDAC1	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1	ENSG00000116478		0.388	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC1	HGNC	protein_coding	OTTHUMT00000019815.3	148	0.00	0	G	NM_004964		32790085	32790085	+1	no_errors	ENST00000373548	ensembl	human	known	69_37n	missense	119	13.77	19	SNP	1.000	A
HDLBP	3069	genome.wustl.edu	37	2	242170255	242170255	+	Silent	SNP	G	G	A			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr2:242170255G>A	ENST00000391975.1	-	25	3620	c.3393C>T	c.(3391-3393)gaC>gaT	p.D1131D	HDLBP_ENST00000427183.2_Silent_p.D1098D|HDLBP_ENST00000310931.4_Silent_p.D1131D|HDLBP_ENST00000391976.2_Silent_p.D1131D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1131	KH 13. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCAGCGGGACGTCCTCAGAAA	0.537																																						dbGAP											0													160.0	129.0	139.0					2																	242170255		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3393C>T	2.37:g.242170255G>A			B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.D1131	ENST00000391975.1	37	c.3393	CCDS2547.1	2																																																																																			HDLBP	-	smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.537	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	46	0.00	0	G	NM_203346		242170255	242170255	-1	no_errors	ENST00000310931	ensembl	human	known	69_37n	silent	56	18.84	13	SNP	0.787	A
KCNA7	3743	genome.wustl.edu	37	19	49573895	49573895	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr19:49573895C>T	ENST00000221444.1	-	2	1151	c.796G>A	c.(796-798)Ggg>Agg	p.G266R		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	266					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	TGGCCCACCCCTCGCTGCCGG	0.572																																					Colon(74;686 1235 3793 23366 48562)	dbGAP											0													77.0	71.0	73.0					19																	49573895		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.796G>A	19.37:g.49573895C>T	ENSP00000221444:p.Gly266Arg		A1KYX7|Q9BYS4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1	p.G266R	ENST00000221444.1	37	c.796	CCDS12755.1	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048442	0.75846	.	.	ENSG00000104848	ENST00000221444	D	0.98329	-4.87	4.65	4.65	0.58169	Ion transport (1);	0.314070	0.29699	U	0.011425	D	0.95456	0.8524	L	0.28556	0.865	0.45648	D	0.998572	P	0.35050	0.482	B	0.31686	0.134	D	0.95474	0.8554	10	0.51188	T	0.08	.	16.6617	0.85242	0.0:1.0:0.0:0.0	.	266	Q96RP8	KCNA7_HUMAN	R	266	ENSP00000221444:G266R	ENSP00000221444:G266R	G	-	1	0	KCNA7	54265707	0.997000	0.39634	0.979000	0.43373	0.866000	0.49608	3.324000	0.52022	2.321000	0.78463	0.491000	0.48974	GGG	KCNA7	-	pfam_Ion_trans_dom	ENSG00000104848		0.572	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA7	HGNC	protein_coding	OTTHUMT00000466263.1	34	0.00	0	C	NM_031886		49573895	49573895	-1	no_errors	ENST00000221444	ensembl	human	known	69_37n	missense	23	36.11	13	SNP	1.000	T
KDR	3791	genome.wustl.edu	37	4	55955041	55955042	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr4:55955041_55955042insG	ENST00000263923.4	-	26	3798_3799	c.3503_3504insC	c.(3502-3504)gctfs	p.A1168fs	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1168					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAACCTGCTGAGCATTAGCTTG	0.505			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												dbGAP		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0																																										-	-	-	SO:0001589	frameshift_variant	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3504dupC	4.37:g.55955042_55955042dupG	ENSP00000263923:p.Ala1168fs		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	p.Q1169fs	ENST00000263923.4	37	c.3504_3503	CCDS3497.1	4																																																																																			KDR	-	NULL	ENSG00000128052		0.505	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	64	0.00	0	-			55955041	55955042	-1	no_errors	ENST00000263923	ensembl	human	known	69_37n	frame_shift_ins	51	10.53	6	INS	0.721:0.984	G
FAM230C	26080	genome.wustl.edu	37	22	21662329	21662329	+	lincRNA	SNP	G	G	A			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr22:21662329G>A	ENST00000436681.1	-	0	1841																											CGTTAGCAATGCCTTGTACAG	0.463																																						dbGAP											0																																										-	-	-			0																															22.37:g.21662329G>A				RNA	SNP	-	NULL	ENST00000436681.1	37	NULL		22																																																																																			LINC00281	-	-	ENSG00000206142		0.463	KB-1183D5.13-003	KNOWN	basic	lincRNA	LINC00281	HGNC	lincRNA	OTTHUMT00000320109.1	11	0.00	0	G			21662329	21662329	-1	no_errors	ENST00000436681	ensembl	human	known	69_37n	rna	11	31.25	5	SNP	0.124	A
MAP3K1	4214	genome.wustl.edu	37	5	56179458	56179458	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr5:56179458delT	ENST00000399503.3	+	15	3771	c.3771delT	c.(3769-3771)tgtfs	p.C1257fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTTCTTCTTGTTATCAGGCTC	0.393																																						dbGAP											0													182.0	172.0	175.0					5																	56179458		1857	4106	5963	-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3771delT	5.37:g.56179458delT	ENSP00000382423:p.Cys1257fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.Y1258fs	ENST00000399503.3	37	c.3771	CCDS43318.1	5																																																																																			MAP3K1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095015		0.393	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	28	0.00	0	T	XM_042066		56179458	56179458	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_del	42	17.31	9	DEL	1.000	-
MARC1	64757	genome.wustl.edu	37	1	220964935	220964935	+	Silent	SNP	C	C	A			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr1:220964935C>A	ENST00000366910.5	+	2	564	c.378C>A	c.(376-378)ctC>ctA	p.L126L		NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	126					detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CCCTGACTCTCAGTGCAGCCT	0.537																																						dbGAP											0													143.0	117.0	126.0					1																	220964935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.378C>A	1.37:g.220964935C>A			A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Missense_Mutation	SNP	pfam_MoCF_Sase_C,pfam_MOSC_N,superfamily_Pyrv_Knase-like_insert_dom	p.Q35K	ENST00000366910.5	37	c.103	CCDS1526.1	1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237501	0.22711	.	.	ENSG00000186205	ENST00000407981	.	.	.	5.27	2.12	0.27331	.	.	.	.	.	T	0.70072	0.3182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70163	-0.4947	4	.	.	.	-0.3927	16.43	0.83839	0.0:0.4879:0.5121:0.0	.	.	.	.	K	35	.	.	Q	+	1	0	MOSC1	219031558	0.998000	0.40836	0.989000	0.46669	0.985000	0.73830	0.427000	0.21379	0.576000	0.29452	0.655000	0.94253	CAG	MARC1	-	pfam_MOSC_N	ENSG00000186205		0.537	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARC1	HGNC	protein_coding	OTTHUMT00000090904.1	65	0.00	0	C	NM_022746		220964935	220964935	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000407981	ensembl	human	putative	69_37n	missense	71	10.13	8	SNP	1.000	A
MEGF11	84465	genome.wustl.edu	37	15	66273187	66273187	+	Missense_Mutation	SNP	G	G	A	rs145333107	byFrequency	TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr15:66273187G>A	ENST00000409699.2	-	7	863	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	MEGF11_ENST00000395625.2_Missense_Mutation_p.R156C|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Missense_Mutation_p.R231C|MEGF11_ENST00000288745.3_Missense_Mutation_p.R156C|MEGF11_ENST00000422354.1_Missense_Mutation_p.R231C			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	231	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CAGGGGCAGCGCAGCTCACAG	0.632																																						dbGAP											0													23.0	18.0	20.0					15																	66273187		2199	4298	6497	-	-	-	SO:0001583	missense	0			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.691C>T	15.37:g.66273187G>A	ENSP00000386908:p.Arg231Cys		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain	p.R231C	ENST00000409699.2	37	c.691	CCDS10213.2	15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207642	0.79240	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698	T;T;T;T;T	0.68025	0.37;0.37;0.37;0.37;-0.3	4.21	4.21	0.49690	EGF-like, laminin (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.42964	U	0.000636	T	0.81654	0.4868	M	0.83012	2.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.67900	0.932;0.954	D	0.85075	0.0942	10	0.66056	D	0.02	.	15.3217	0.74126	0.0:0.0:1.0:0.0	.	231;156	A6BM72;A6BM72-2	MEG11_HUMAN;.	C	231;156;231;156;231	ENSP00000386908:R231C;ENSP00000288745:R156C;ENSP00000414475:R231C;ENSP00000378987:R156C;ENSP00000353919:R231C	ENSP00000288745:R156C	R	-	1	0	MEGF11	64060241	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.279000	0.65597	2.166000	0.68216	0.549000	0.68633	CGC	MEGF11	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000157890		0.632	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	HGNC	protein_coding	OTTHUMT00000329307.2	53	0.00	0	G	NM_032445		66273187	66273187	-1	no_errors	ENST00000409699	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	1.000	A
METTL18	92342	genome.wustl.edu	37	1	169762443	169762443	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr1:169762443C>A	ENST00000310392.4	-	2	747	c.394G>T	c.(394-396)Gtg>Ttg	p.V132L	C1orf112_ENST00000498289.1_Intron|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000456684.1_5'Flank|METTL18_ENST00000303469.2_Missense_Mutation_p.V132L	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	132						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						ATGGTTTTCACTACTGATAAC	0.363																																						dbGAP											0													61.0	63.0	63.0					1																	169762443		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.394G>T	1.37:g.169762443C>A	ENSP00000307975:p.Val132Leu		B2R9T5	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom	p.V132L	ENST00000310392.4	37	c.394	CCDS1284.1	1	.	.	.	.	.	.	.	.	.	.	C	6.637	0.486089	0.12641	.	.	ENSG00000171806	ENST00000310392;ENST00000303469;ENST00000454472	T;T;T	0.52983	2.37;2.37;0.64	5.8	2.95	0.34219	.	0.278842	0.29046	N	0.013303	T	0.25269	0.0614	M	0.70275	2.135	0.31758	N	0.633692	B	0.15473	0.013	B	0.10450	0.005	T	0.10965	-1.0607	10	0.30078	T	0.28	-0.341	9.8222	0.40889	0.0:0.7775:0.0:0.2225	.	132	O95568	MET18_HUMAN	L	132	ENSP00000307975:V132L;ENSP00000307077:V132L;ENSP00000402305:V132L	ENSP00000307077:V132L	V	-	1	0	METTL18	168029067	0.869000	0.29996	0.397000	0.26308	0.094000	0.18550	1.579000	0.36536	0.382000	0.24878	0.655000	0.94253	GTG	METTL18	-	NULL	ENSG00000171806		0.363	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL18	HGNC	protein_coding	OTTHUMT00000087109.1	35	0.00	0	C	NM_033418		169762443	169762443	-1	no_errors	ENST00000303469	ensembl	human	known	69_37n	missense	66	15.38	12	SNP	0.751	A
MICAL3	57553	genome.wustl.edu	37	22	18371885	18371885	+	Silent	SNP	G	G	A			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr22:18371885G>A	ENST00000441493.2	-	13	2158	c.1806C>T	c.(1804-1806)gcC>gcT	p.A602A	MICAL3_ENST00000383094.3_Silent_p.A602A|MICAL3_ENST00000414725.2_Silent_p.A602A|MICAL3_ENST00000400561.2_Silent_p.A602A|MICAL3_ENST00000207726.7_Silent_p.A602A|MICAL3_ENST00000444520.1_Silent_p.A602A|MICAL3_ENST00000585038.1_Silent_p.A602A|MICAL3_ENST00000429452.1_Silent_p.A602A	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	602	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCCCCACGGAGGCCATTTCTT	0.498											OREG0026284	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													116.0	104.0	108.0					22																	18371885		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1806C>T	22.37:g.18371885G>A		725	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.P121L	ENST00000441493.2	37	c.362	CCDS46659.1	22																																																																																			MICAL3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000243156		0.498	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	65	0.00	0	G			18371885	18371885	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000461307	ensembl	human	putative	69_37n	missense	49	12.50	7	SNP	0.996	A
MUC12	10071	genome.wustl.edu	37	7	100641745	100641745	+	Missense_Mutation	SNP	G	G	A	rs201151723	byFrequency	TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr7:100641745G>A	ENST00000379442.3	+	5	8330	c.8330G>A	c.(8329-8331)cGc>cAc	p.R2777H	MUC12_ENST00000536621.1_Missense_Mutation_p.R2634H			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2777	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ACAACCTCACGCATCAGTCCA	0.512																																						dbGAP											0													1.0	1.0	1.0					7																	100641745		281	720	1001	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.8330G>A	7.37:g.100641745G>A	ENSP00000368755:p.Arg2777His		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.R2777H	ENST00000379442.3	37	c.8330		7	.	.	.	.	.	.	.	.	.	.	N	2.539	-0.306802	0.05458	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13657	2.57;2.57	0.704	-1.41	0.08941	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.34900	-0.9810	6	0.29301	T	0.29	.	.	.	.	.	.	.	.	H	2777;2634	ENSP00000368755:R2777H;ENSP00000441929:R2634H	ENSP00000368755:R2777H	R	+	2	0	MUC12	100428465	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.895000	0.01606	-1.425000	0.01997	-1.402000	0.01139	CGC	MUC12	-	NULL	ENSG00000205277		0.512	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	17	0.00	0	G	XM_379904		100641745	100641745	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	4	33.33	2	SNP	0.000	A
KMT2C	58508	genome.wustl.edu	37	7	152007146	152007146	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr7:152007146G>A	ENST00000262189.6	-	6	972	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.H252Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	252					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAACGGTGATGAGCCCAACAA	0.383																																						dbGAP											0													77.0	67.0	70.0					7																	152007146		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.754C>T	7.37:g.152007146G>A	ENSP00000262189:p.His252Tyr		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.H252Y	ENST00000262189.6	37	c.754	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936009	0.73442	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84146	-1.81;-1.81	5.88	5.88	0.94601	.	0.000000	0.47852	D	0.000202	D	0.95306	0.8477	H	0.96301	3.8	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96115	0.9080	10	0.87932	D	0	.	19.8137	0.96557	0.0:0.0:1.0:0.0	.	252	Q8NEZ4	MLL3_HUMAN	Y	252	ENSP00000262189:H252Y;ENSP00000347325:H252Y	ENSP00000262189:H252Y	H	-	1	0	MLL3	151638079	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.729000	0.91490	2.780000	0.95670	0.655000	0.94253	CAT	MLL3	-	NULL	ENSG00000055609		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	43	0.00	0	G			152007146	152007146	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	33	26.67	12	SNP	1.000	A
PATE3	100169851	genome.wustl.edu	37	11	125659317	125659317	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr11:125659317G>A	ENST00000445202.1	+	2	127	c.86G>A	c.(85-87)cGc>cAc	p.R29H		NM_001129883.3	NP_001123355.3	B3GLJ2	PATE3_HUMAN	prostate and testis expressed 3	29						extracellular region (GO:0005576)											TGCCACCTTCGCACACGGACA	0.502																																						dbGAP											0													172.0	142.0	151.0					11																	125659317		692	1591	2283	-	-	-	SO:0001583	missense	0			EF426753	CCDS44764.1	11q24.2	2008-12-17			ENSG00000236027	ENSG00000236027		"""PATE family"""	35426	protein-coding gene	gene with protein product						18390568	Standard	NM_001129883		Approved	PATE-DJ, HEL-127	uc009zbs.3	B3GLJ2	OTTHUMG00000165857	ENST00000445202.1:c.86G>A	11.37:g.125659317G>A	ENSP00000395505:p.Arg29His		B5KFZ3	Missense_Mutation	SNP	NULL	p.R29H	ENST00000445202.1	37	c.86	CCDS44764.1	11	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768598	0.31320	.	.	ENSG00000236027	ENST00000445202	T	0.21932	1.98	3.98	-0.288	0.12855	.	.	.	.	.	T	0.13415	0.0325	.	.	.	0.09310	N	0.999999	B	0.24132	0.098	B	0.18871	0.023	T	0.24368	-1.0162	8	0.49607	T	0.09	.	6.6217	0.22806	0.4655:0.0:0.5345:0.0	.	29	B3GLJ2	PATE3_HUMAN	H	29	ENSP00000395505:R29H	ENSP00000395505:R29H	R	+	2	0	PATE3	125164527	0.006000	0.16342	0.058000	0.19502	0.132000	0.20833	-0.093000	0.11111	-0.039000	0.13602	0.555000	0.69702	CGC	PATE3	-	NULL	ENSG00000236027		0.502	PATE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATE3	HGNC	protein_coding	OTTHUMT00000386731.1	38	0.00	0	G	NM_001129883		125659317	125659317	+1	no_errors	ENST00000445202	ensembl	human	known	69_37n	missense	50	21.88	14	SNP	0.063	A
PBX2P1	5088	genome.wustl.edu	37	3	142897223	142897223	+	RNA	SNP	T	T	G	rs2167114|rs563195327	byFrequency	TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr3:142897223T>G	ENST00000560287.1	+	0	2097									pre-B-cell leukemia homeobox 2 pseudogene 1																		gttgttgttgttgGTGGTGGT	0.264																																						dbGAP											0																																										-	-	-			0					3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142897223T>G				RNA	SNP	-	NULL	ENST00000560287.1	37	NULL		3																																																																																			PBX2P1	-	-	ENSG00000244171		0.264	PBX2P1-002	KNOWN	basic	processed_transcript	PBX2P1	HGNC	pseudogene	OTTHUMT00000417717.1	13	0.00	0	T	NG_002434		142897223	142897223	+1	no_errors	ENST00000560287	ensembl	human	known	69_37n	rna	8	33.33	4	SNP	0.003	G
PCDHA9	9752	genome.wustl.edu	37	5	140229433	140229433	+	Silent	SNP	C	C	T			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr5:140229433C>T	ENST00000532602.1	+	1	2386	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA9_ENST00000378122.3_Silent_p.N451N|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	451	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCACCAGCGT	0.672																																					Melanoma(55;1800 1972 14909)	dbGAP											0													90.0	83.0	85.0					5																	140229433		2196	4270	6466	-	-	-	SO:0001819	synonymous_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1353C>T	5.37:g.140229433C>T			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N451	ENST00000532602.1	37	c.1353	CCDS54920.1	5																																																																																			PCDHA9	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000204961		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	115	0.00	0	C	NM_031857		140229433	140229433	+1	no_errors	ENST00000532602	ensembl	human	known	69_37n	silent	50	44.44	40	SNP	0.993	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	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	22	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	G
RACGAP1	29127	genome.wustl.edu	37	12	50410433	50410433	+	Silent	SNP	G	G	T			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr12:50410433G>T	ENST00000427314.2	-	4	289	c.66C>A	c.(64-66)ctC>ctA	p.L22L	RACGAP1_ENST00000312377.5_Silent_p.L22L|RACGAP1_ENST00000454520.2_Silent_p.L22L|RACGAP1_ENST00000551016.1_Silent_p.L22L|RACGAP1_ENST00000547905.1_Silent_p.L22L|RACGAP1_ENST00000434422.1_Silent_p.L22L	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTCCTTCACTGAGAATCTCCA	0.413																																						dbGAP											0													126.0	134.0	131.0					12																	50410433		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.66C>A	12.37:g.50410433G>T				Nonsense_Mutation	SNP	NULL	p.S16*	ENST00000427314.2	37	c.47	CCDS8795.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.198081	0.97367	.	.	ENSG00000161800	ENST00000550149;ENST00000546786;ENST00000548247	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4606	10.4817	0.44698	0.0:0.2896:0.5862:0.1242	.	.	.	.	X	16	.	ENSP00000447429:S16X	S	-	2	0	RACGAP1	48696700	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.904000	0.28491	2.683000	0.91414	0.650000	0.86243	TCA	RACGAP1	-	NULL	ENSG00000161800		0.413	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RACGAP1	HGNC	protein_coding	OTTHUMT00000405997.1	30	0.00	0	G	NM_013277		50410433	50410433	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000548247	ensembl	human	putative	69_37n	nonsense	32	11.11	4	SNP	1.000	T
SOAT2	8435	genome.wustl.edu	37	12	53498996	53498996	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A5ZW-01A-12D-A29N-09	TCGA-A7-A5ZW-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	625e623d-6b89-4f8d-8b99-21e8d3178b73	3e7894de-ba96-4306-844b-f675ef3f4566	g.chr12:53498996C>G	ENST00000301466.3	+	3	304	c.244C>G	c.(244-246)Ctg>Gtg	p.L82V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	82					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	AGACAAACCTCTGCCCCCACC	0.572																																						dbGAP											0													77.0	66.0	70.0					12																	53498996		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.244C>G	12.37:g.53498996C>G	ENSP00000301466:p.Leu82Val		F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	pfam_MBOAT_fam	p.L82V	ENST00000301466.3	37	c.244	CCDS8847.1	12	.	.	.	.	.	.	.	.	.	.	C	8.094	0.775233	0.16051	.	.	ENSG00000167780	ENST00000551896;ENST00000301466	T;T	0.44482	0.92;1.98	4.94	3.05	0.35203	.	1.682050	0.02977	N	0.145107	T	0.36303	0.0962	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26121	-1.0112	10	0.28530	T	0.3	-0.0443	11.5717	0.50836	0.0:0.6291:0.3709:0.0	.	82	O75908	SOAT2_HUMAN	V	82	ENSP00000450120:L82V;ENSP00000301466:L82V	ENSP00000301466:L82V	L	+	1	2	SOAT2	51785263	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.068000	0.14531	0.757000	0.33036	0.655000	0.94253	CTG	SOAT2	-	NULL	ENSG00000167780		0.572	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	HGNC	protein_coding	OTTHUMT00000405817.1	26	0.00	0	C			53498996	53498996	+1	no_errors	ENST00000301466	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.001	G
