#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CSPP1	79848	genome.wustl.edu	37	8	67988761	67988761	+	Silent	SNP	C	C	T			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr8:67988761C>T	ENST00000262210.5	+	3	283	c.252C>T	c.(250-252)atC>atT	p.I84I	CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	84					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGATACTGATCTCTATGGCTA	0.348																																						dbGAP											0													102.0	93.0	96.0					8																	67988761		1830	4078	5908	-	-	-	SO:0001819	synonymous_variant	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.252C>T	8.37:g.67988761C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND63|Q70F00|Q8TBC1	Silent	SNP	NULL	p.I84	ENST00000262210.5	37	c.252	CCDS43744.1	8																																																																																			CSPP1	-	NULL	ENSG00000104218		0.348	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	44	0.00	0	C	NM_024790		67988761	67988761	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	silent	91	18.02	20	SNP	1.000	T
DDX52	11056	genome.wustl.edu	37	17	35981486	35981486	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr17:35981486C>A	ENST00000349699.2	-	10	1350	c.1307G>T	c.(1306-1308)gGt>gTt	p.G436V	DDX52_ENST00000394367.3_Missense_Mutation_p.G328V	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	436	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CACATTAATACCTTCATATAT	0.323																																						dbGAP											0													96.0	92.0	93.0					17																	35981486		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.1307G>T	17.37:g.35981486C>A	ENSP00000268854:p.Gly436Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G436V	ENST00000349699.2	37	c.1307	CCDS11323.1	17	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711303	0.89112	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.09073	3.02;3.02	5.8	5.8	0.92144	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06356	-1.0831	10	0.87932	D	0	.	19.0392	0.92991	0.0:1.0:0.0:0.0	.	436	Q9Y2R4	DDX52_HUMAN	V	436;328	ENSP00000268854:G436V;ENSP00000377893:G328V	ENSP00000268854:G436V	G	-	2	0	DDX52	33055599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.951000	0.75983	2.740000	0.93945	0.650000	0.86243	GGT	DDX52	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000141141		0.323	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX52	HGNC	protein_coding	OTTHUMT00000256795.1	87	0.00	0	C	NM_152300		35981486	35981486	-1	no_errors	ENST00000349699	ensembl	human	known	69_37n	missense	81	21.36	22	SNP	1.000	A
DGAT1	8694	genome.wustl.edu	37	8	145542158	145542158	+	Silent	SNP	C	C	T	rs375597889		TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr8:145542158C>T	ENST00000332324.4	-	6	813	c.540G>A	c.(538-540)gcG>gcA	p.A180A	DGAT1_ENST00000527438.1_5'Flank|DGAT1_ENST00000531896.1_Silent_p.A180A	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	180					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGACCACAGCCGCTGGGAAAC	0.657																																						dbGAP											0													30.0	30.0	30.0					8																	145542158		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.540G>A	8.37:g.145542158C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWQ2|D3DWL6|Q96BB8	Silent	SNP	pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom	p.A180	ENST00000332324.4	37	c.540	CCDS6420.1	8																																																																																			DGAT1	-	pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom	ENSG00000185000		0.657	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	HGNC	protein_coding	OTTHUMT00000382059.3	18	0.00	0	C	NM_012079		145542158	145542158	-1	no_errors	ENST00000332324	ensembl	human	known	69_37n	silent	25	40.48	17	SNP	0.001	T
EIF2AK1	27102	genome.wustl.edu	37	7	6084237	6084237	+	Missense_Mutation	SNP	T	T	A			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr7:6084237T>A	ENST00000199389.6	-	7	832	c.686A>T	c.(685-687)tAt>tTt	p.Y229F	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.Y105F|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CGCGGTGTGATAGCCAACAAT	0.468																																						dbGAP											0													106.0	88.0	94.0					7																	6084237		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.686A>T	7.37:g.6084237T>A	ENSP00000199389:p.Tyr229Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y229F	ENST00000199389.6	37	c.686	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	.	28.6	4.931013	0.92389	.	.	ENSG00000086232	ENST00000199389;ENST00000536084	T;T	0.23950	2.02;1.88	5.61	5.61	0.85477	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	L	0.41079	1.255	0.53688	D	0.999977	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.75484	0.939;0.977;0.986	T	0.32348	-0.9910	10	0.66056	D	0.02	-22.0964	15.477	0.75489	0.0:0.0:0.0:1.0	.	105;229;229	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	F	229;105	ENSP00000199389:Y229F;ENSP00000445784:Y105F	ENSP00000199389:Y229F	Y	-	2	0	EIF2AK1	6050763	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.403000	0.73264	2.132000	0.65825	0.528000	0.53228	TAT	EIF2AK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000086232		0.468	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	26	0.00	0	T	NM_014413		6084237	6084237	-1	no_errors	ENST00000199389	ensembl	human	known	69_37n	missense	21	63.16	36	SNP	1.000	A
ELMO1	9844	genome.wustl.edu	37	7	36934508	36934508	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr7:36934508G>A	ENST00000310758.4	-	17	2199	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	ELMO1_ENST00000341056.3_Missense_Mutation_p.R220C|ELMO1_ENST00000442504.1_Missense_Mutation_p.R518C|ELMO1_ENST00000396045.3_Missense_Mutation_p.R38C|ELMO1_ENST00000448602.1_Missense_Mutation_p.R518C|ELMO1_ENST00000396040.2_Missense_Mutation_p.R38C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	518					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCGGACTGGCGGATTTTCAGG	0.478																																						dbGAP											0													188.0	168.0	175.0					7																	36934508		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1552C>T	7.37:g.36934508G>A	ENSP00000312185:p.Arg518Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.R518C	ENST00000310758.4	37	c.1552	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.394510	0.96009	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.72795	-0.4185	10	0.66056	D	0.02	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	518	Q92556	ELMO1_HUMAN	C	220;38;518;422;38;518;518	ENSP00000342142:R220C;ENSP00000379360:R38C;ENSP00000312185:R518C;ENSP00000379355:R38C;ENSP00000406952:R518C;ENSP00000394458:R518C	ENSP00000312185:R518C	R	-	1	0	ELMO1	36901033	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.805000	0.96524	0.655000	0.94253	CGC	ELMO1	-	NULL	ENSG00000155849		0.478	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	135	0.00	0	G	NM_130442		36934508	36934508	-1	no_errors	ENST00000310758	ensembl	human	known	69_37n	missense	93	48.04	86	SNP	1.000	A
GNL3L	54552	genome.wustl.edu	37	X	54585017	54585017	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chrX:54585017C>T	ENST00000336470.4	+	15	1734	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	GNL3L_ENST00000360845.2_Missense_Mutation_p.T532M	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	532					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ATCATGGAGACGGACCCCCTG	0.582																																						dbGAP											0													70.0	51.0	58.0					X																	54585017		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1595C>T	X.37:g.54585017C>T	ENSP00000338573:p.Thr532Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain	p.T532M	ENST00000336470.4	37	c.1595	CCDS14360.1	X	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384977	0.25031	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.17691	2.26;2.26	4.76	2.96	0.34315	.	0.358117	0.31636	N	0.007318	T	0.06690	0.0171	N	0.14661	0.345	0.26835	N	0.968493	P	0.36909	0.573	B	0.23275	0.045	T	0.24799	-1.0150	10	0.40728	T	0.16	-7.6563	5.5069	0.16858	0.0:0.7504:0.0:0.2496	.	532	Q9NVN8	GNL3L_HUMAN	M	532	ENSP00000338573:T532M;ENSP00000354091:T532M	ENSP00000338573:T532M	T	+	2	0	GNL3L	54601742	0.836000	0.29430	0.993000	0.49108	0.527000	0.34593	1.516000	0.35856	1.065000	0.40693	0.513000	0.50165	ACG	GNL3L	-	NULL	ENSG00000130119		0.582	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3L	HGNC	protein_coding	OTTHUMT00000056805.1	42	0.00	0	C	NM_019067		54585017	54585017	+1	no_errors	ENST00000336470	ensembl	human	known	69_37n	missense	38	35.59	21	SNP	0.931	T
GOLGA8K	653125	genome.wustl.edu	37	15	32686875	32686875	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr15:32686875G>A	ENST00000512626.2	-	14	1267	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	RN7SL185P_ENST00000492212.2_RNA|AC139426.1_ENST00000408517.1_RNA					golgin A8 family, member K																		CCTTCCCCAGGGAGAGCCATG	0.617																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS61577.1	15q13.3	2012-10-05			ENSG00000249931	ENSG00000249931			38652	protein-coding gene	gene with protein product							Standard	NM_001282493		Approved			D6RF30	OTTHUMG00000175395	ENST00000512626.2:c.1267C>T	15.37:g.32686875G>A	ENSP00000426691:p.Pro423Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.P400S	ENST00000512626.2	37	c.1198		15	.	.	.	.	.	.	.	.	.	.	g	9.432	1.085731	0.20390	.	.	ENSG00000249931	ENST00000510574;ENST00000512626	.	.	.	1.66	1.66	0.24008	.	.	.	.	.	T	0.18383	0.0441	.	.	.	0.22446	N	0.999098	.	.	.	.	.	.	T	0.24657	-1.0154	5	0.12430	T	0.62	.	6.8302	0.23905	0.0:0.0:1.0:0.0	.	.	.	.	S	371;400	.	ENSP00000427681:P371S	P	-	1	0	RP13-395E19.1	30474167	0.714000	0.27936	0.730000	0.30809	0.069000	0.16628	1.660000	0.37397	1.241000	0.43820	0.162000	0.16502	CCT	RP13-395E19.1	-	NULL	ENSG00000249931		0.617	GOLGA8K-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	GOLGA8J	Clone_based_vega_gene	protein_coding	OTTHUMT00000371108.2	14	0.00	0	G	XM_003118652.2		32686875	32686875	-1	no_errors	ENST00000512626	ensembl	human	novel	69_37n	missense	12	50.00	12	SNP	0.917	A
HLA-DRB1	3123	genome.wustl.edu	37	6	32549452	32549452	+	Missense_Mutation	SNP	C	C	G	rs77637983		TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr6:32549452C>G	ENST00000360004.5	-	3	639	c.534G>C	c.(532-534)caG>caC	p.Q178H		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	178	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						AGTCTCCATTCTGGATCAGGC	0.552										Multiple Myeloma(14;0.17)																												dbGAP											0													141.0	159.0	152.0					6																	32549452		1511	2709	4220	-	-	-	SO:0001583	missense	0			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.534G>C	6.37:g.32549452C>G	ENSP00000353099:p.Gln178His	Somatic		WXS	Illumina GAIIx	Phase_IV	P01914|Q9MYF5	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.Q178H	ENST00000360004.5	37	c.534	CCDS47409.1	6	.	.	.	.	.	.	.	.	.	.	.	9.019	0.984432	0.18889	.	.	ENSG00000196126	ENST00000360004	T	0.03181	4.02	3.87	-6.02	0.02192	Immunoglobulin-like (3);Immunoglobulin C1-set (6);Immunoglobulin-like fold (3);	1.094850	0.06883	N	0.802821	T	0.00815	0.0027	.	.	.	0.80722	P	0.0	B;B;B	0.17038	0.02;0.003;0.003	B;B;B	0.15870	0.014;0.014;0.007	T	0.47711	-0.9096	8	0.34782	T	0.22	.	8.422	0.32707	0.401:0.5079:0.0:0.0911	rs2308771;rs9269801	178;178;178	P04229;Q29974;P01911	2B11_HUMAN;2B1G_HUMAN;2B1F_HUMAN	H	178	ENSP00000353099:Q178H	ENSP00000353099:Q178H	Q	-	3	2	HLA-DRB1	32657430	0.000000	0.05858	0.048000	0.18961	0.990000	0.78478	-3.650000	0.00403	-1.028000	0.03321	0.453000	0.30009	CAG	HLA-DRB1	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000196126		0.552	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	8	0.00	0	C	NM_002124		32549452	32549452	-1	no_errors	ENST00000360004	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	0.016	G
ICAM3	3385	genome.wustl.edu	37	19	10444840	10444840	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr19:10444840delA	ENST00000160262.5	-	6	1645	c.1437delT	c.(1435-1437)attfs	p.I479fs	ICAM3_ENST00000589261.1_Frame_Shift_Del_p.I402fs|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	479					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GCTCACCCTCAATGTCCATCA	0.572																																						dbGAP											0													73.0	68.0	70.0					19																	10444840		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1437delT	19.37:g.10444840delA	ENSP00000160262:p.Ile479fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PD68	Frame_Shift_Del	DEL	pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM	p.I479fs	ENST00000160262.5	37	c.1437	CCDS12235.1	19																																																																																			ICAM3	-	NULL	ENSG00000076662		0.572	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	HGNC	protein_coding	OTTHUMT00000451234.1	42	0.00	0	A			10444840	10444840	-1	no_errors	ENST00000160262	ensembl	human	known	69_37n	frame_shift_del	19	40.54	15	DEL	0.031	-
KLHL41	10324	genome.wustl.edu	37	2	170366849	170366849	+	Silent	SNP	C	C	T			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr2:170366849C>T	ENST00000284669.1	+	1	638	c.561C>T	c.(559-561)agC>agT	p.S187S	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	187	BACK.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											CAAATGACAGCCTAAATGTAG	0.398																																						dbGAP											0													129.0	138.0	135.0					2																	170366849		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.561C>T	2.37:g.170366849C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53R42	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S187	ENST00000284669.1	37	c.561	CCDS2234.1	2																																																																																			KBTBD10	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000239474		0.398	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD10	HGNC	protein_coding	OTTHUMT00000255263.1	35	0.00	0	C	NM_006063		170366849	170366849	+1	no_errors	ENST00000284669	ensembl	human	known	69_37n	silent	55	32.53	27	SNP	1.000	T
KRTAP4-11	653240	genome.wustl.edu	37	17	39274455	39274455	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr17:39274455G>T	ENST00000391413.2	-	1	151	c.113C>A	c.(112-114)aCc>aAc	p.T38N		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	38	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCGACAGTAGGTGGTCCTGCA	0.662																																						dbGAP											0													22.0	25.0	24.0					17																	39274455		692	1591	2283	-	-	-	SO:0001583	missense	0			AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.113C>A	17.37:g.39274455G>T	ENSP00000375232:p.Thr38Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUY2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.T38N	ENST00000391413.2	37	c.113	CCDS45675.1	17	.	.	.	.	.	.	.	.	.	.	.	9.504	1.103858	0.20632	.	.	ENSG00000212721	ENST00000391413	T	0.01446	4.88	4.02	-5.74	0.02391	.	.	.	.	.	T	0.04137	0.0115	H	0.94582	3.555	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.34179	-0.9839	9	0.39692	T	0.17	.	5.2633	0.15586	0.0798:0.4942:0.207:0.2189	.	38	Q9BYQ6	KR411_HUMAN	N	38	ENSP00000375232:T38N	ENSP00000375232:T38N	T	-	2	0	KRTAP4-11	36527981	0.530000	0.26330	0.037000	0.18230	0.002000	0.02628	0.100000	0.15231	-0.845000	0.04179	-0.235000	0.12190	ACC	KRTAP4-11	-	pfam_Keratin-assoc	ENSG00000212721		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-11	HGNC	protein_coding	OTTHUMT00000257690.1	33	0.00	0	G			39274455	39274455	-1	no_errors	ENST00000391413	ensembl	human	known	69_37n	missense	92	20.00	23	SNP	0.002	T
PCDHB12	56124	genome.wustl.edu	37	5	140590325	140590325	+	Missense_Mutation	SNP	G	G	A	rs528495738	byFrequency	TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr5:140590325G>A	ENST00000239450.2	+	1	2035	c.1846G>A	c.(1846-1848)Ggc>Agc	p.G616S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.G279S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCTATTCGGCGTGTGGGC	0.682																																						dbGAP											0													12.0	14.0	13.0					5																	140590325		1700	3512	5212	-	-	-	SO:0001583	missense	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1846G>A	5.37:g.140590325G>A	ENSP00000239450:p.Gly616Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G616S	ENST00000239450.2	37	c.1846	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	G	1.708	-0.499745	0.04291	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.48201	0.82;0.82	3.53	-6.48	0.01896	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.08582	0.0213	N	0.00086	-2.195	0.09310	N	1	B	0.12630	0.006	B	0.21360	0.034	T	0.37150	-0.9718	9	0.02654	T	1	.	9.1299	0.36839	0.6694:0.2212:0.1094:0.0	.	616	Q9Y5F1	PCDBC_HUMAN	S	279;616;236	ENSP00000440199:G279S;ENSP00000239450:G616S	ENSP00000239450:G616S	G	+	1	0	PCDHB12	140570509	0.000000	0.05858	0.635000	0.29338	0.945000	0.59286	-3.765000	0.00372	-1.468000	0.01892	-1.234000	0.01563	GGC	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120328		0.682	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	13	0.00	0	G	NM_018932		140590325	140590325	+1	no_errors	ENST00000239450	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	0.092	A
PMVK	10654	genome.wustl.edu	37	1	154897637	154897637	+	Missense_Mutation	SNP	T	T	A			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr1:154897637T>A	ENST00000368467.3	-	5	852	c.547A>T	c.(547-549)Aac>Tac	p.N183Y		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	183					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCTATCAGGTTCTCCAACTGC	0.552																																						dbGAP											0													166.0	167.0	166.0					1																	154897637		2203	4300	6503	-	-	-	SO:0001583	missense	0			L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.547A>T	1.37:g.154897637T>A	ENSP00000357452:p.Asn183Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZW9	Missense_Mutation	SNP	pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim	p.N183Y	ENST00000368467.3	37	c.547	CCDS1073.1	1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.133811	0.37630	.	.	ENSG00000163344	ENST00000368467	T	0.44482	0.92	5.31	0.124	0.14714	.	0.994711	0.08178	N	0.985923	T	0.07279	0.0184	N	0.03608	-0.345	0.09310	N	1	B	0.17268	0.021	B	0.15870	0.014	T	0.36866	-0.9730	10	0.59425	D	0.04	-5.9915	7.0711	0.25179	0.0:0.0847:0.4819:0.4334	.	183	Q15126	PMVK_HUMAN	Y	183	ENSP00000357452:N183Y	ENSP00000357452:N183Y	N	-	1	0	PMVK	153164261	0.000000	0.05858	0.002000	0.10522	0.387000	0.30353	-0.161000	0.10026	-0.129000	0.11620	-0.415000	0.06103	AAC	PMVK	-	pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim	ENSG00000163344		0.552	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMVK	HGNC	protein_coding	OTTHUMT00000091088.1	48	0.00	0	T	NM_006556		154897637	154897637	-1	no_errors	ENST00000368467	ensembl	human	known	69_37n	missense	72	29.41	30	SNP	0.018	A
PPP5C	5536	genome.wustl.edu	37	19	46891947	46891947	+	Silent	SNP	C	C	T			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr19:46891947C>T	ENST00000012443.4	+	11	1417	c.1314C>T	c.(1312-1314)caC>caT	p.H438H	PPP5C_ENST00000391919.1_Silent_p.H310H|AC007193.8_ENST00000598616.1_RNA	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	438	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		AGGTGGCTCACGGAGGCCGCT	0.567																																						dbGAP											0													120.0	105.0	110.0					19																	46891947		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1314C>T	19.37:g.46891947C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16722|Q53XV2	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T437M	ENST00000012443.4	37	c.1310	CCDS12684.1	19																																																																																			PPP5C	-	smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000011485		0.567	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2	57	0.00	0	C	NM_006247		46891947	46891947	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000478046	ensembl	human	known	69_37n	missense	43	27.12	16	SNP	0.969	T
PXDN	7837	genome.wustl.edu	37	2	1687851	1687851	+	Splice_Site	SNP	C	C	A			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr2:1687851C>A	ENST00000252804.4	-	5	539		c.e5+1			NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)						extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACACAACTCACAGCCTCTCGA	0.428																																						dbGAP											0													42.0	47.0	45.0					2																	1687851		1898	4125	6023	-	-	-	SO:0001630	splice_region_variant	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.488+1G>T	2.37:g.1687851C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8QM65|D6W4Y0|Q4KMG2	Splice_Site	SNP	-	e5+1	ENST00000252804.4	37	c.488+1	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217825	0.58560	.	.	ENSG00000130508	ENST00000252804;ENST00000433670;ENST00000447941;ENST00000425171	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8514	0.96741	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PXDN	1666858	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	7.665000	0.83852	2.688000	0.91661	0.563000	0.77884	.	PXDN	-	-	ENSG00000130508		0.428	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	52	0.00	0	C	XM_056455	Intron	1687851	1687851	-1	no_errors	ENST00000252804	ensembl	human	known	69_37n	splice_site	30	33.33	15	SNP	1.000	A
SLC19A2	10560	genome.wustl.edu	37	1	169446894	169446894	+	Silent	SNP	T	T	G			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr1:169446894T>G	ENST00000236137.5	-	2	542	c.306A>C	c.(304-306)ctA>ctC	p.L102L	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	102					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	GCCCCTGCAGTAGAACAACAG	0.438																																						dbGAP											0													62.0	61.0	61.0					1																	169446894		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.306A>C	1.37:g.169446894T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Silent	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier	p.L102	ENST00000236137.5	37	c.306	CCDS1280.1	1																																																																																			SLC19A2	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier	ENSG00000117479		0.438	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A2	HGNC	protein_coding	OTTHUMT00000086106.1	16	0.00	0	T	NM_006996		169446894	169446894	-1	no_errors	ENST00000236137	ensembl	human	known	69_37n	silent	32	20.00	8	SNP	0.981	G
SRPX2	27286	genome.wustl.edu	37	X	99920275	99920275	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chrX:99920275C>T	ENST00000373004.3	+	6	996	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	190	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TCCCCACTCACGTGAGAAGAT	0.537																																						dbGAP											0													83.0	70.0	74.0					X																	99920275		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.568C>T	X.37:g.99920275C>T	ENSP00000362095:p.Arg190Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQT3|Q8WW85	Missense_Mutation	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.R190C	ENST00000373004.3	37	c.568	CCDS14471.1	X	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842780	0.71488	.	.	ENSG00000102359	ENST00000373004	T	0.22945	1.93	5.61	5.61	0.85477	Hyalin (2);	0.000000	0.85682	D	0.000000	T	0.49133	0.1539	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.36625	-0.9740	9	.	.	.	-12.682	18.6939	0.91593	0.0:1.0:0.0:0.0	.	190	O60687	SRPX2_HUMAN	C	190	ENSP00000362095:R190C	.	R	+	1	0	SRPX2	99806931	0.985000	0.35326	1.000000	0.80357	0.996000	0.88848	2.700000	0.47085	2.359000	0.80004	0.529000	0.55759	CGT	SRPX2	-	pfam_Hyalin,pfscan_Hyalin	ENSG00000102359		0.537	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX2	HGNC	protein_coding	OTTHUMT00000057486.1	72	0.00	0	C	NM_014467		99920275	99920275	+1	no_errors	ENST00000373004	ensembl	human	known	69_37n	missense	45	35.71	25	SNP	1.000	T
TNC	3371	genome.wustl.edu	37	9	117808755	117808755	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr9:117808755C>T	ENST00000350763.4	-	17	5470	c.5059G>A	c.(5059-5061)Gaa>Aaa	p.E1687K	TNC_ENST00000542877.1_Missense_Mutation_p.E1324K|TNC_ENST00000346706.3_Missense_Mutation_p.E1141K|TNC_ENST00000423613.2_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.E1323K|TNC_ENST00000535648.1_Missense_Mutation_p.E1232K|TNC_ENST00000537320.1_Intron|TNC_ENST00000481475.1_5'Flank|TNC_ENST00000341037.4_Missense_Mutation_p.E1505K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1687	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGTTCAATTTCGTATTCAGTA	0.443																																						dbGAP											0													223.0	209.0	214.0					9																	117808755		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5059G>A	9.37:g.117808755C>T	ENSP00000265131:p.Glu1687Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E1687K	ENST00000350763.4	37	c.5059	CCDS6811.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.14|12.14	1.847912|1.847912	0.32699|0.32699	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000350763;ENST00000341037;ENST00000542877|ENST00000544972	T;T;T;T;T;T|.	0.58210|.	0.35;0.35;0.35;0.35;0.35;0.35|.	5.81|5.81	4.91|4.91	0.64330|0.64330	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.240480|.	0.41294|.	D|.	0.000913|.	T|T	0.48768|0.48768	0.1518|0.1518	N|N	0.21194|0.21194	0.64|0.64	0.80722|0.80722	D|D	1|1	B|.	0.31519|.	0.327|.	B|.	0.27380|.	0.079|.	T|T	0.42258|0.42258	-0.9462|-0.9462	10|5	0.06099|.	T|.	0.92|.	.|.	11.8032|11.8032	0.52139|0.52139	0.0:0.8588:0.0:0.1412|0.0:0.8588:0.0:0.1412	.|.	1687|.	P24821|.	TENA_HUMAN|.	K|Q	1323;1232;1141;1687;1505;1324|249	ENSP00000344400:E1323K;ENSP00000438152:E1232K;ENSP00000344555:E1141K;ENSP00000265131:E1687K;ENSP00000339553:E1505K;ENSP00000442242:E1324K|.	ENSP00000344400:E1323K|.	E|R	-|-	1|2	0|0	TNC|TNC	116848576|116848576	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	3.744000|3.744000	0.55112|0.55112	1.438000|1.438000	0.47492|0.47492	0.563000|0.563000	0.77884|0.77884	GAA|CGA	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.443	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	87	0.00	0	C	NM_002160		117808755	117808755	-1	no_errors	ENST00000350763	ensembl	human	known	69_37n	missense	51	31.08	23	SNP	1.000	T
ZFP36L1	677	genome.wustl.edu	37	14	69257168	69257169	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr14:69257168_69257169insC	ENST00000439696.2	-	2	399_400	c.98_99insG	c.(97-99)ggtfs	p.G33fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.G33fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	33					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCAGCAGGCAACCCCCTGCACT	0.579											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.99dupG	14.37:g.69257173_69257173dupC	ENSP00000388402:p.Gly33fs	Somatic	1113	WXS	Illumina GAIIx	Phase_IV	Q13851	Frame_Shift_Ins	INS	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.C34fs	ENST00000439696.2	37	c.99_98	CCDS9791.1	14																																																																																			ZFP36L1	-	pfam_Tis11B_N	ENSG00000185650		0.579	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	25	0.00	0	-			69257168	69257169	-1	no_errors	ENST00000336440	ensembl	human	known	69_37n	frame_shift_ins	15	34.78	8	INS	0.993:0.997	C
ZNF20	7568	genome.wustl.edu	37	19	12251081	12251081	+	5'UTR	SNP	A	A	C			TCGA-GM-A2DC-01A-11D-A18P-09	TCGA-GM-A2DC-10C-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c38c65b0-3e79-4351-badc-922a01dbb9ce	ca5e8f90-befe-401c-8897-34209b1b6e2e	g.chr19:12251081A>C	ENST00000334213.5	-	0	141				CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000542938.1_3'UTR|ZNF20_ENST00000600335.1_5'UTR|ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_Missense_Mutation_p.L109R	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						GAGCGACAGAAGTTGTGGCAG	0.592											OREG0025268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													24.0	26.0	25.0					19																	12251081		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.-84T>G	19.37:g.12251081A>C		Somatic	678	WXS	Illumina GAIIx	Phase_IV	Q8N457|Q9UG41	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.L109R	ENST00000334213.5	37	c.326	CCDS45986.1	19																																																																																			ZNF625	-	NULL	ENSG00000213297		0.592	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF625	HGNC	protein_coding	OTTHUMT00000344101.1	20	0.00	0	A	NM_021143		12251081	12251081	-1	no_errors	ENST00000430024	ensembl	human	known	69_37n	missense	9	62.50	15	SNP	0.000	C
