#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
GNAZ	2781	genome.wustl.edu	37	22	23465451	23465451	+	Missense_Mutation	SNP	G	G	A	rs545366122		TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr22:23465451G>A	ENST00000248996.4	+	3	1567	c.901G>A	c.(901-903)Gct>Act	p.A301T	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	301					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CGAGGAGGCCGCTGTCTACAT	0.567																																																	0								ENSG00000128266						113.0	91.0	99.0					22																	23465451		2203	4300	6503	GNAZ	SO:0001583	missense	0			-	HGNC		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.901G>A	22.37:g.23465451G>A	ENSP00000248996:p.Ala301Thr	Somatic	0	28	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B2R6C1|Q4QRJ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.A301T	ENST00000248996.4	37	c.901	CCDS13804.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.682893	0.96774	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.88741	-2.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.93070	0.7794	L	0.55017	1.72	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.93563	0.6897	10	0.72032	D	0.01	.	17.9627	0.89090	0.0:0.0:1.0:0.0	.	301	P19086	GNAZ_HUMAN	T	301;249	ENSP00000248996:A301T	ENSP00000248996:A301T	A	+	1	0	GNAZ	21795451	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.596000	0.98267	2.580000	0.87095	0.655000	0.94253	GCT	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I		0.567	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAZ	protein_coding	OTTHUMT00000319073.1	G	NM_002073	-		23465451	+1	no_errors	ENST00000248996	ensembl	human	known	74_37	missense	SNP	1.000	A
BTN2A3P	54718	genome.wustl.edu	37	6	26422387	26422388	+	RNA	INS	-	-	CTTCCTCCTCCT	rs141260282	byFrequency	TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr6:26422387_26422388insCTTCCTCCTCCT	ENST00000466808.2	+	0	41_42							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											CGGCCAGCCTCCCTCCTCCTCC	0.589														503	0.100439	0.1188	0.1427	5008	,	,		16333	0.0258		0.1083	False		,,,				2504	0.1145																0								ENSG00000124549																																			BTN2A3P			0				HGNC	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422387_26422388insCTTCCTCCTCCT		Somatic	NA	NA	NA		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A6NEF4	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000466808.2	37	NULL		6																																																																																			-	-		0.589	BTN2A3P-001	KNOWN	basic	processed_transcript	BTN2A3P	pseudogene	OTTHUMT00000040118.4	-	NR_027795			26422388	+1	no_errors	ENST00000465856	ensembl	human	known	74_37	rna	INS	0.003:0.002	CTTCCTCCTCCT
TUBB8P12	260334	genome.wustl.edu	37	18	49507	49507	+	Silent	SNP	G	G	C			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr18:49507G>C	ENST00000308911.6	-	1	50	c.51C>G	c.(49-51)ggC>ggG	p.G17G	RP11-683L23.1_ENST00000594555.1_5'Flank|RP11-683L23.1_ENST00000573909.1_Intron																							CAACCTTGGCGCCGATCTGGT	0.682																																																	0								ENSG00000173213																																			RP11-683L23.1	SO:0001819	synonymous_variant	0			-	Clone_based_vega_gene																												ENST00000308911.6:c.51C>G	18.37:g.49507G>C		Somatic	0	41	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.G17	ENST00000308911.6	37	c.51		18																																																																																			-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin		0.682	RP11-683L23.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000173213	protein_coding		G		-		49507	-1	no_errors	ENST00000308911	ensembl	human	known	74_37	silent	SNP	0.875	C
OR2AG1	144125	genome.wustl.edu	37	11	6806992	6806992	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr11:6806992T>C	ENST00000307401.4	+	1	745	c.724T>C	c.(724-726)Tct>Cct	p.S242P		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGTCACCTGCTCTTCCCACCT	0.493																																																	0								ENSG00000170803						185.0	162.0	169.0					11																	6806992		2201	4296	6497	OR2AG1	SO:0001583	missense	0			-	HGNC	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.724T>C	11.37:g.6806992T>C	ENSP00000307447:p.Ser242Pro	Somatic	0	82	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	70	10.26	B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S242P	ENST00000307401.4	37	c.724	CCDS31414.1	11	.	.	.	.	.	.	.	.	.	.	T	16.43	3.119959	0.56613	.	.	ENSG00000170803	ENST00000307401	T	0.38722	1.12	4.23	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000156	T	0.66528	0.2798	M	0.93328	3.405	0.30419	N	0.778329	D	0.76494	0.999	D	0.74674	0.984	T	0.66814	-0.5828	10	0.87932	D	0	.	4.9213	0.13871	0.1871:0.0:0.1943:0.6186	.	242	Q9H205	O2AG1_HUMAN	P	242	ENSP00000307447:S242P	ENSP00000307447:S242P	S	+	1	0	OR2AG1	6763568	0.000000	0.05858	0.994000	0.49952	0.991000	0.79684	0.014000	0.13333	0.746000	0.32786	0.528000	0.53228	TCT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.493	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG1	protein_coding	OTTHUMT00000385980.1	T	NM_001004489	-		6806992	+1	no_errors	ENST00000307401	ensembl	human	known	74_37	missense	SNP	0.963	C
HRNR	388697	genome.wustl.edu	37	1	152186899	152186899	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:152186899C>G	ENST00000368801.2	-	3	7281	c.7206G>C	c.(7204-7206)caG>caC	p.Q2402H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2402					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAAAGACTGACGGGAGC	0.587																																																	0								ENSG00000197915																																			HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7206G>C	1.37:g.152186899C>G	ENSP00000357791:p.Gln2402His	Somatic	0	110	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	106	22.63	Q5DT20|Q5U1F4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Q2402H	ENST00000368801.2	37	c.7206	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	6.699	0.497554	0.12762	.	.	ENSG00000197915	ENST00000368801	T	0.02498	4.27	2.76	0.731	0.18277	.	.	.	.	.	T	0.02571	0.0078	L	0.38838	1.175	0.21967	N	0.999446	D	0.76494	0.999	D	0.79784	0.993	T	0.46952	-0.9154	9	0.41790	T	0.15	.	6.5005	0.22166	0.0:0.7311:0.0:0.2689	.	2402	Q86YZ3	HORN_HUMAN	H	2402	ENSP00000357791:Q2402H	ENSP00000357791:Q2402H	Q	-	3	2	HRNR	150453523	0.005000	0.15991	0.026000	0.17262	0.090000	0.18270	-0.029000	0.12329	0.053000	0.16036	0.650000	0.86243	CAG	-	NULL		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	-		152186899	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.868	G
HSPBP1	23640	genome.wustl.edu	37	19	55790886	55790887	+	In_Frame_Ins	INS	-	-	GCCGCCGCC	rs199849782|rs10701478|rs3040014		TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr19:55790886_55790887insGCCGCCGCC	ENST00000255631.5	-	3	400_401	c.90_91insGGCGGCGGC	c.(88-93)ggctcc>ggcGGCGGCGGCtcc	p.29_30insGGG	HSPBP1_ENST00000587922.1_In_Frame_Ins_p.29_30insGGG|BRSK1_ENST00000590333.1_5'Flank|HSPBP1_ENST00000433386.2_In_Frame_Ins_p.29_30insGGG|HSPBP1_ENST00000376343.3_In_Frame_Ins_p.29_30insGGG	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	29	Gly-rich.				negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGCCGAGGAGCCGCCGCCGC	0.713																																																	0								ENSG00000133265																																			HSPBP1	SO:0001652	inframe_insertion	0				HGNC		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.82_90dupGGCGGCGGC	19.37:g.55790887_55790895dupGCCGCCGCC	ENSP00000255631:p.Gly27_Gly29dup	Somatic	NA	NA	NA		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B3KQP0|B4DG11|O95351|Q6ZNU5	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	superfamily_ARM-type_fold	p.30in_frame_insGGG	ENST00000255631.5	37	c.91_90	CCDS33111.1	19																																																																																			-	NULL		0.713	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HSPBP1	protein_coding	OTTHUMT00000452670.1	-	NM_012267			55790887	-1	no_errors	ENST00000255631	ensembl	human	known	74_37	in_frame_ins	INS	0.883:0.989	GCCGCCGCC
HRNR	388697	genome.wustl.edu	37	1	152187081	152187081	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:152187081C>G	ENST00000368801.2	-	3	7099	c.7024G>C	c.(7024-7026)Ggt>Cgt	p.G2342R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2342					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGTGGTGACCAAATCCAGAA	0.577																																																	0								ENSG00000197915						362.0	577.0	505.0					1																	152187081		2182	4297	6479	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7024G>C	1.37:g.152187081C>G	ENSP00000357791:p.Gly2342Arg	Somatic	0	355	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	109	411	20.96	Q5DT20|Q5U1F4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G2342R	ENST00000368801.2	37	c.7024	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	4.933	0.173348	0.09391	.	.	ENSG00000197915	ENST00000368801	T	0.06849	3.25	3.29	0.209	0.15226	.	.	.	.	.	T	0.05456	0.0144	L	0.55481	1.735	0.09310	N	1	D	0.64830	0.994	P	0.56865	0.808	T	0.21042	-1.0257	9	0.52906	T	0.07	.	0.8888	0.01249	0.1855:0.4101:0.1816:0.2229	.	2342	Q86YZ3	HORN_HUMAN	R	2342	ENSP00000357791:G2342R	ENSP00000357791:G2342R	G	-	1	0	HRNR	150453705	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.277000	0.08502	0.055000	0.16094	0.650000	0.86243	GGT	-	NULL		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	-		152187081	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.001	G
LOC400499	400499	genome.wustl.edu	37	16	11553770	11553770	+	Silent	SNP	C	C	A			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr16:11553770C>A	ENST00000344649.3	-	15	2153	c.621G>T	c.(619-621)ctG>ctT	p.L207L																								AGTGATTGCTCAGGGCGGGCC	0.617																																																	0								ENSG00000188897																																			CTD-3088G3.8	SO:0001819	synonymous_variant	0			-	Clone_based_vega_gene																												ENST00000344649.3:c.621G>T	16.37:g.11553770C>A		Somatic	0	34	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L207	ENST00000344649.3	37	c.621		16																																																																																			-	NULL		0.617	CTD-3088G3.8-201	KNOWN	basic|appris_principal	protein_coding	LOC101929274	protein_coding		C		-		11553770	-1	no_errors	ENST00000344649	ensembl	human	known	74_37	silent	SNP	0.986	A
XPNPEP1	7511	genome.wustl.edu	37	10	111651337	111651337	+	Intron	DEL	T	T	-	rs112429910		TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr10:111651337delT	ENST00000502935.1	-	5	535				XPNPEP1_ENST00000369680.4_Intron|XPNPEP1_ENST00000322238.8_Intron|XPNPEP1_ENST00000430337.1_Intron|XPNPEP1_ENST00000369683.1_Intron					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		aggcatgccattttttttttt	0.438																																																	0								ENSG00000108039																																			XPNPEP1	SO:0001627	intron_variant	0				HGNC		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.415+142A>-	10.37:g.111651337delT		Somatic	0	16	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000502935.1	37	NULL	CCDS7560.2	10																																																																																			-	-		0.438	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	protein_coding	OTTHUMT00000050264.2	T				111651337	-1	no_errors	ENST00000475123	ensembl	human	known	74_37	rna	DEL	0.005	-
PKD2	5311	genome.wustl.edu	37	4	88929174	88929176	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr4:88929174_88929176delGAG	ENST00000237596.2	+	1	355_357	c.289_291delGAG	c.(289-291)gagdel	p.E102del		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|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 fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTCGAGGCCgaggaggaggagg	0.739																																																	0								ENSG00000118762			18,82,2250		6,0,6,18,46,1099						-3.4	0.9			2	8,117,4707		2,0,4,14,89,2307	no	codingComplex	PKD2	NM_000297.3		8,0,10,32,135,3406	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5869,4.2553,3.1328				26,199,6957				PKD2	SO:0001651	inframe_deletion	0				HGNC	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.289_291delGAG	4.37:g.88929183_88929185delGAG	ENSP00000237596:p.Glu102del	Somatic	0	32	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	Q8TB08|Q9P0T6|Q9Y3X8	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.E100in_frame_del	ENST00000237596.2	37	c.289_291	CCDS3627.1	4																																																																																			-	NULL		0.739	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	protein_coding	OTTHUMT00000253042.4	GAG	NM_000297			88929176	+1	no_errors	ENST00000237596	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
QDPR	5860	genome.wustl.edu	37	4	17510934	17510934	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr4:17510934A>G	ENST00000281243.5	-	2	337	c.158T>C	c.(157-159)aTt>aCt	p.I53T	QDPR_ENST00000428702.2_Intron|QDPR_ENST00000508623.1_Missense_Mutation_p.I53T|QDPR_ENST00000513615.1_Missense_Mutation_p.I53T	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	53					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						CATTTTAACAATGATGCTAGC	0.507																																																	0								ENSG00000151552						125.0	107.0	113.0					4																	17510934		2203	4300	6503	QDPR	SO:0001583	missense	0			-	HGNC	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.158T>C	4.37:g.17510934A>G	ENSP00000281243:p.Ile53Thr	Somatic	0	56	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	66	9.59	A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH_sc/Rdtase_SDR	p.I53T	ENST00000281243.5	37	c.158	CCDS3421.1	4	.	.	.	.	.	.	.	.	.	.	A	5.272	0.235552	0.10023	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000508623	D;D;D	0.94613	-3.47;-3.47;-3.47	5.52	5.52	0.82312	NAD(P)-binding domain (1);	0.556427	0.18452	N	0.140818	D	0.89037	0.6601	N	0.21583	0.68	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.72887	-0.4156	10	0.11485	T	0.65	-17.5901	15.3324	0.74223	1.0:0.0:0.0:0.0	.	53	P09417	DHPR_HUMAN	T	53	ENSP00000422759:I53T;ENSP00000281243:I53T;ENSP00000426377:I53T	ENSP00000281243:I53T	I	-	2	0	QDPR	17120032	0.352000	0.24895	0.003000	0.11579	0.002000	0.02628	5.020000	0.64066	2.091000	0.63221	0.533000	0.62120	ATT	-	pfam_DH_sc/Rdtase_SDR		0.507	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QDPR	protein_coding	OTTHUMT00000250372.1	A	NM_000320	-		17510934	-1	no_errors	ENST00000281243	ensembl	human	known	74_37	missense	SNP	0.022	G
TCHH	7062	genome.wustl.edu	37	1	152084230	152084235	+	In_Frame_Del	DEL	CAACGT	CAACGT	-	rs72477385	byFrequency	TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	CAACGT	CAACGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:152084230_152084235delCAACGT	ENST00000368804.1	-	2	1457_1462	c.1458_1463delACGTTG	c.(1456-1464)gaacgttgg>gag	p.RW487del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	487	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R487S(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTTCAGCCAACGTTCGCGCCTct	0.67																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000159450																																			TCHH	SO:0001651	inframe_deletion	0				HGNC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1458_1463delACGTTG	1.37:g.152084230_152084235delCAACGT	ENSP00000357794:p.Arg487_Trp488del	Somatic	NA	NA	NA		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q5VUI3	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.RW487in_frame_del	ENST00000368804.1	37	c.1463_1458	CCDS41396.1	1																																																																																			-	NULL		0.670	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	protein_coding	OTTHUMT00000036671.2	CAACGT	NM_007113			152084235	-1	no_errors	ENST00000368804	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000	-
ZNF251	90987	genome.wustl.edu	37	8	145948119	145948119	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr8:145948119A>G	ENST00000292562.7	-	5	1201	c.926T>C	c.(925-927)aTt>aCt	p.I309T	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CCGATGTTGAATAAGAGTTGA	0.463																																																	0								ENSG00000198169						46.0	51.0	49.0					8																	145948119		2147	4280	6427	ZNF251	SO:0001583	missense	0			-	HGNC	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.926T>C	8.37:g.145948119A>G	ENSP00000292562:p.Ile309Thr	Somatic	0	59	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.76	Q2M219	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I309T	ENST00000292562.7	37	c.926	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	A	4.466	0.086369	0.08583	.	.	ENSG00000198169	ENST00000292562	T	0.37584	1.19	3.0	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16257	0.0391	N	0.11927	0.2	0.09310	N	1	B	0.18166	0.026	B	0.17098	0.017	T	0.30327	-0.9982	9	0.06757	T	0.87	-11.5111	5.9532	0.19259	0.8715:0.0:0.1285:0.0	.	309	Q9BRH9	ZN251_HUMAN	T	309	ENSP00000292562:I309T	ENSP00000292562:I309T	I	-	2	0	ZNF251	145918928	0.000000	0.05858	0.607000	0.28956	0.992000	0.81027	0.437000	0.21543	1.362000	0.46000	0.460000	0.39030	ATT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	protein_coding	OTTHUMT00000382541.1	A	NM_138367	-		145948119	-1	no_errors	ENST00000292562	ensembl	human	known	74_37	missense	SNP	0.000	G
KIF1A	547	genome.wustl.edu	37	2	241702149	241702151	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr2:241702149_241702151delCTC	ENST00000320389.7	-	22	2232_2234	c.2074_2076delGAG	c.(2074-2076)gagdel	p.E692del	KIF1A_ENST00000498729.2_In_Frame_Del_p.E701del	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	692					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CATCCTCGGGCTCCTCCTCCTCC	0.621																																																	0								ENSG00000130294																																			KIF1A	SO:0001651	inframe_deletion	0				HGNC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2074_2076delGAG	2.37:g.241702158_241702160delCTC	ENSP00000322791:p.Glu692del	Somatic	0	15	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E701in_frame_del	ENST00000320389.7	37	c.2103_2101	CCDS46561.1	2																																																																																			-	NULL		0.621	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	CTC	NM_138483			241702151	-1	no_errors	ENST00000498729	ensembl	human	known	74_37	in_frame_del	DEL	0.996:1.000:1.000	-
HRNR	388697	genome.wustl.edu	37	1	152187037	152187037	+	Silent	SNP	C	C	T			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:152187037C>T	ENST00000368801.2	-	3	7143	c.7068G>A	c.(7066-7068)caG>caA	p.Q2356Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2356					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGATCCATGCTGAGTGTAAC	0.547																																																	0								ENSG00000197915						388.0	608.0	534.0					1																	152187037		2182	4297	6479	HRNR	SO:0001819	synonymous_variant	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7068G>A	1.37:g.152187037C>T		Somatic	0	416	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	135	471	22.24	Q5DT20|Q5U1F4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Q2356	ENST00000368801.2	37	c.7068	CCDS30859.1	1																																																																																			-	NULL		0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	-		152187037	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	SNP	0.000	T
BMF	90427	genome.wustl.edu	37	15	40400420	40400421	+	Intron	INS	-	-	ACACACACAC	rs140876953|rs143336176|rs58924044	byFrequency	TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr15:40400420_40400421insACACACACAC	ENST00000354670.4	-	2	230				BMF_ENST00000561282.1_5'Flank|BMF_ENST00000561360.1_5'Flank|BMF_ENST00000431415.3_5'Flank|BMF_ENST00000559701.1_Intron|BMF_ENST00000397573.1_5'Flank|BMF_ENST00000220446.4_5'Flank|BMF_ENST00000558057.1_5'UTR|BMF_ENST00000558774.1_Intron	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor						anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		AGTGACTAGGAacacacacaca	0.589																																																	0								ENSG00000104081																																			BMF	SO:0001627	intron_variant	0				HGNC	BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.4+38->GTGTGTGTGT	15.37:g.40400421_40400430dupACACACACAC		Somatic	NA	NA	NA		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000354670.4	37	NULL	CCDS10052.1	15																																																																																			-	-		0.589	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMF	protein_coding	OTTHUMT00000252119.1	-	NM_033503			40400421	-1	no_errors	ENST00000558057	ensembl	human	known	74_37	rna	INS	0.000:0.001	ACACACACAC
FAHD2CP	729234	genome.wustl.edu	37	2	96676301	96676301	+	RNA	SNP	C	C	A	rs369749400		TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr2:96676301C>A	ENST00000607780.1	+	0	0									fumarylacetoacetate hydrolase domain containing 2C, pseudogene																		GTGACGTCACCGGACGCGCCC	0.711																																																	0								ENSG00000231584																																			FAHD2CP			0			-	HGNC			2q11.1	2012-06-29			ENSG00000231584	ENSG00000231584			44135	pseudogene	pseudogene							Standard	NR_003698		Approved		uc010fht.3		OTTHUMG00000155210		2.37:g.96676301C>A		Somatic	0	8	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000607780.1	37	NULL		2																																																																																			-	-		0.711	FAHD2CP-005	KNOWN	non_canonical_TEC|basic	processed_transcript	FAHD2CP	pseudogene	OTTHUMT00000470200.1	C	NR_003698	-		96676301	+1	no_errors	ENST00000467292	ensembl	human	known	74_37	rna	SNP	0.018	A
LRIG3	121227	genome.wustl.edu	37	12	59281683	59281683	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr12:59281683C>G	ENST00000320743.3	-	8	1265	c.979G>C	c.(979-981)Gat>Cat	p.D327H	LRIG3_ENST00000379141.4_Missense_Mutation_p.D267H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	327					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTTGAATCATCTAACCTTGAT	0.378			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0								ENSG00000139263						103.0	102.0	103.0					12																	59281683		2203	4300	6503	LRIG3	SO:0001583	missense	0			-	HGNC	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.979G>C	12.37:g.59281683C>G	ENSP00000326759:p.Asp327His	Somatic	0	40	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	111	8.26	Q6UXL7|Q8NC72	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D327H	ENST00000320743.3	37	c.979	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890427	0.72524	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.25749	1.78;1.78	5.86	5.86	0.93980	.	0.000000	0.38326	N	0.001725	T	0.40839	0.1133	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.71674	0.985;0.998	P;D	0.69654	0.881;0.965	T	0.02326	-1.1176	9	.	.	.	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	267;327	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	H	267;327	ENSP00000368436:D267H;ENSP00000326759:D327H	.	D	-	1	0	LRIG3	57567950	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.050000	0.71063	2.937000	0.99478	0.650000	0.86243	GAT	-	smart_Leu-rich_rpt_typical-subtyp		0.378	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	protein_coding	OTTHUMT00000406623.1	C	NM_153377	-		59281683	-1	no_errors	ENST00000320743	ensembl	human	known	74_37	missense	SNP	1.000	G
MSH3	4437	genome.wustl.edu	37	5	79950700	79950717	+	In_Frame_Del	DEL	GCAGCGGCTGCAGCGGCC	GCAGCGGCTGCAGCGGCC	-	rs530525176|rs2431220|rs2405875|rs144776112|rs201874762|rs201906899	byFrequency	TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	GCAGCGGCTGCAGCGGCC	GCAGCGGCTGCAGCGGCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr5:79950700_79950717delGCAGCGGCTGCAGCGGCC	ENST00000265081.6	+	1	234_251	c.154_171delGCAGCGGCTGCAGCGGCC	c.(154-171)gcagcggctgcagcggccdel	p.AAAAAA52del	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	52	Poly-Ala.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCCTGGCGCTgcagcggctgcagcggccgcagcggccg	0.693								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318		,	1153,2933		197,759,1087					,		0.2		dbSNP_100	12	2199,5723		382,1435,2144	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	579,2194,3231	A1A1,A1R,RR		27.7581,28.2183,27.9147	,	,		3352,8656				MSH3	SO:0001651	inframe_deletion	0				HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.154_171delGCAGCGGCTGCAGCGGCC	5.37:g.79950700_79950717delGCAGCGGCTGCAGCGGCC	ENSP00000265081:p.Ala52_Ala57del	Somatic	NA	NA	NA		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.AAAAAA55in_frame_del	ENST00000265081.6	37	c.154_171	CCDS34195.1	5																																																																																			-	NULL		0.693	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	GCAGCGGCTGCAGCGGCC	NM_002439			79950717	+1	no_errors	ENST00000265081	ensembl	human	known	74_37	in_frame_del	DEL	0.640:0.607:0.574:0.541:0.508:0.474:0.440:0.406:0.372:0.338:0.304:0.271:0.238:0.205:0.172:0.140:0.107:0.075	-
TRIO	7204	genome.wustl.edu	37	5	14487871	14487871	+	Silent	SNP	C	C	T			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr5:14487871C>T	ENST00000344204.4	+	48	7158	c.7134C>T	c.(7132-7134)ccC>ccT	p.P2378P	TRIO_ENST00000344135.5_5'Flank|TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2378					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCTGCCTCCCCCTggcgcgg	0.756																																																	0								ENSG00000038382						4.0	5.0	5.0					5																	14487871		1980	3966	5946	TRIO	SO:0001819	synonymous_variant	0			-	HGNC	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7134C>T	5.37:g.14487871C>T		Somatic	0	9	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.P2378	ENST00000344204.4	37	c.7134	CCDS3883.1	5																																																																																			-	NULL		0.756	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	C	NM_007118	-		14487871	+1	no_errors	ENST00000344204	ensembl	human	known	74_37	silent	SNP	0.171	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150524368	150524368	+	Intron	DEL	A	A	-	rs199813152		TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:150524368delA	ENST00000271643.4	+	3	152				ADAMTSL4_ENST00000369039.5_Intron|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_5'Flank|ADAMTSL4_ENST00000483335.1_3'UTR|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369041.5_Intron	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4						apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			tctccatctcaaaaaaaaaaa	0.527																																																	0								ENSG00000143382																																			ADAMTSL4	SO:0001627	intron_variant	0				HGNC	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000271643.4:c.-84-313A>-	1.37:g.150524368delA		Somatic	0	16	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	63	10.00	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000271643.4	37	NULL	CCDS955.1	1																																																																																			-	-		0.527	ADAMTSL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL4	protein_coding		A	NM_019032			150524368	+1	no_errors	ENST00000483335	ensembl	human	known	74_37	rna	DEL	0.000	-
CCDC114	93233	genome.wustl.edu	37	19	48807309	48807309	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr19:48807309G>A	ENST00000315396.7	-	7	1325	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	215					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AAGATCTGCCGCTGCAGGACC	0.642																																																	0								ENSG00000105479						81.0	79.0	80.0					19																	48807309		2203	4300	6503	CCDC114	SO:0001583	missense	0			-	HGNC	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.643C>T	19.37:g.48807309G>A	ENSP00000318429:p.Arg215Trp	Somatic	0	33	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R215W	ENST00000315396.7	37	c.643	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626840	0.46840	.	.	ENSG00000105479	ENST00000315396	T	0.38240	1.15	3.26	2.09	0.27110	.	.	.	.	.	T	0.54967	0.1891	M	0.79011	2.435	0.42996	D	0.994504	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.995	T	0.58825	-0.7568	9	0.87932	D	0	-12.03	7.0347	0.24987	0.0:0.0:0.7294:0.2706	.	8;215;215	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	W	215	ENSP00000318429:R215W	ENSP00000318429:R215W	R	-	1	2	CCDC114	53499121	1.000000	0.71417	0.996000	0.52242	0.294000	0.27393	1.515000	0.35845	1.837000	0.53436	0.591000	0.81541	CGG	-	NULL		0.642	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	protein_coding	OTTHUMT00000343207.1	G	NM_144577	-		48807309	-1	no_errors	ENST00000315396	ensembl	human	known	74_37	missense	SNP	1.000	A
OSBPL5	114879	genome.wustl.edu	37	11	3121429	3121429	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr11:3121429G>T	ENST00000263650.7	-	14	1739	c.1580C>A	c.(1579-1581)gCc>gAc	p.A527D	OSBPL5_ENST00000525498.1_Missense_Mutation_p.A438D|OSBPL5_ENST00000348039.5_Missense_Mutation_p.A459D|OSBPL5_ENST00000542243.1_Missense_Mutation_p.A158D|OSBPL5_ENST00000389989.3_Missense_Mutation_p.A459D	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	527					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTAATCCTCGGCTCGGTTCAG	0.612																																																	0								ENSG00000021762						144.0	113.0	123.0					11																	3121429		2202	4298	6500	OSBPL5	SO:0001583	missense	0			-	HGNC	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1580C>A	11.37:g.3121429G>T	ENSP00000263650:p.Ala527Asp	Somatic	0	33	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A527D	ENST00000263650.7	37	c.1580	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	g	7.256	0.604143	0.14002	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74	3.59	-1.45	0.08828	.	0.444286	0.21795	N	0.069014	T	0.08403	0.0209	N	0.01464	-0.85	0.23162	N	0.998195	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.11329	0.002;0.004;0.006;0.004	T	0.31503	-0.9941	10	0.42905	T	0.14	2.9866	10.2277	0.43236	0.0:0.6512:0.2251:0.1238	.	438;488;459;527	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	D	527;459;80;438;158;459;146	ENSP00000263650:A527D;ENSP00000374639:A459D;ENSP00000431412:A80D;ENSP00000433342:A438D;ENSP00000441551:A158D;ENSP00000302872:A459D	ENSP00000263650:A527D	A	-	2	0	OSBPL5	3078005	0.001000	0.12720	0.004000	0.12327	0.114000	0.19823	0.186000	0.16978	-0.047000	0.13423	0.457000	0.33378	GCC	-	pfam_Oxysterol-bd		0.612	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	protein_coding	OTTHUMT00000032332.2	G		-		3121429	-1	no_errors	ENST00000263650	ensembl	human	known	74_37	missense	SNP	0.447	T
CDC42BPA	8476	genome.wustl.edu	37	1	227300601	227300601	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:227300601G>T	ENST00000366769.3	-	13	2952	c.1661C>A	c.(1660-1662)gCt>gAt	p.A554D	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A554D|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A554D|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.A554D|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A554D|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A554D	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCGCTCACTAGCCTGGACTAG	0.408																																																	0								ENSG00000143776						115.0	117.0	116.0					1																	227300601		2203	4300	6503	CDC42BPA	SO:0001583	missense	0			-	HGNC	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1661C>A	1.37:g.227300601G>T	ENSP00000355731:p.Ala554Asp	Somatic	0	32	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.A554D	ENST00000366769.3	37	c.1661	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288730	0.80914	.	.	ENSG00000143776	ENST00000366769;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T	0.67345	-0.24;-0.25;-0.25;-0.25;-0.23;-0.26	5.68	4.76	0.60689	.	0.102782	0.64402	D	0.000002	T	0.73606	0.3608	L	0.54323	1.7	0.36546	D	0.871555	B;P;P	0.39665	0.062;0.624;0.682	B;B;P	0.50490	0.055;0.206;0.642	T	0.79899	-0.1608	10	0.56958	D	0.05	.	16.6952	0.85333	0.0:0.1297:0.8703:0.0	.	554;554;554	F5H5N0;Q5VT25-4;Q5VT25-5	.;.;.	D	554	ENSP00000355731:A554D;ENSP00000335341:A554D;ENSP00000355728:A554D;ENSP00000355726:A554D;ENSP00000443275:A554D;ENSP00000355727:A554D	ENSP00000335341:A554D	A	-	2	0	CDC42BPA	225367224	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	1.380000	0.46344	0.591000	0.81541	GCT	-	NULL		0.408	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	protein_coding	OTTHUMT00000091696.1	G	NM_014826	-		227300601	-1	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	SNP	1.000	T
LARP4B	23185	genome.wustl.edu	37	10	861057	861057	+	Intron	SNP	C	C	T	rs372892538		TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr10:861057C>T	ENST00000316157.3	-	15	1736				LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B						positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CGGCACTAAGCGGAGCTGGTA	0.562																																																	0								ENSG00000107929	C		0,4406		0,0,2203	53.0	47.0	49.0			-4.7	0.0	10		49	1,8599	1.2+/-3.3	0,1,4299	no	intron	LARP4B	NM_015155.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			861057	1,13005	2203	4300	6503	LARP4B	SO:0001627	intron_variant	0			-	HGNC	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1696-47G>A	10.37:g.861057C>T		Somatic	0	21	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000316157.3	37	NULL	CCDS31131.1	10																																																																																			-	-		0.562	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	protein_coding	OTTHUMT00000046395.2	C	NM_015155	-		861057	-1	no_errors	ENST00000469487	ensembl	human	known	74_37	rna	SNP	0.000	T
PCLO	27445	genome.wustl.edu	37	7	82581481	82581481	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr7:82581481C>T	ENST00000333891.9	-	5	9125	c.8788G>A	c.(8788-8790)Gtt>Att	p.V2930I	PCLO_ENST00000423517.2_Missense_Mutation_p.V2930I|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTAAATCAACGGGTTTTTCA	0.433																																																	0								ENSG00000186472						120.0	120.0	120.0					7																	82581481		1906	4122	6028	PCLO	SO:0001583	missense	0			-	HGNC	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8788G>A	7.37:g.82581481C>T	ENSP00000334319:p.Val2930Ile	Somatic	0	87	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	79	8.14		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.V2930I	ENST00000333891.9	37	c.8788	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402034	0.25291	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20738	2.05;2.08	5.67	5.67	0.87782	.	.	.	.	.	T	0.47525	0.1450	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.40515	-0.9559	9	0.87932	D	0	.	19.7661	0.96342	0.0:1.0:0.0:0.0	.	2930;2930	Q9Y6V0-5;Q9Y6V0-6	.;.	I	2861;2930;2930	ENSP00000334319:V2930I;ENSP00000388393:V2930I	ENSP00000334319:V2930I	V	-	1	0	PCLO	82419417	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	6.044000	0.71012	2.660000	0.90430	0.557000	0.71058	GTT	-	NULL		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510	-		82581481	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	SNP	1.000	T
DCAF5	8816	genome.wustl.edu	37	14	69520843	69520843	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr14:69520843G>T	ENST00000341516.5	-	9	2707	c.2560C>A	c.(2560-2562)Ctg>Atg	p.L854M	DCAF5_ENST00000557386.1_Missense_Mutation_p.L853M|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000556847.1_Missense_Mutation_p.L772M|DCAF5_ENST00000554215.1_Missense_Mutation_p.L772M	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	854					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ACCACCTCCAGCTCCCCCAAG	0.562																																																	0								ENSG00000139990						122.0	108.0	113.0					14																	69520843		2203	4300	6503	DCAF5	SO:0001583	missense	0			-	HGNC	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2560C>A	14.37:g.69520843G>T	ENSP00000341351:p.Leu854Met	Somatic	0	30	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L854M	ENST00000341516.5	37	c.2560	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	G	8.663	0.900980	0.17760	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.68765	-0.35;-0.18;-0.18;0.27	5.09	4.12	0.48240	.	0.556295	0.15681	N	0.249906	T	0.57242	0.2040	N	0.19112	0.55	0.80722	D	1	P;P	0.42620	0.785;0.679	P;B	0.45138	0.471;0.28	T	0.58020	-0.7710	10	0.40728	T	0.16	-3.1001	14.1372	0.65295	0.0833:0.0:0.9167:0.0	.	853;854	G3V4J7;Q96JK2	.;DCAF5_HUMAN	M	854;772;772;853	ENSP00000341351:L854M;ENSP00000451551:L772M;ENSP00000452052:L772M;ENSP00000451845:L853M	ENSP00000341351:L854M	L	-	1	2	DCAF5	68590596	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	4.812000	0.62613	2.648000	0.89879	0.561000	0.74099	CTG	-	NULL		0.562	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	protein_coding	OTTHUMT00000414806.2	G	NM_003861	-		69520843	-1	no_errors	ENST00000341516	ensembl	human	known	74_37	missense	SNP	1.000	T
EHD3	30845	genome.wustl.edu	37	2	31489522	31489522	+	Silent	SNP	G	G	A			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr2:31489522G>A	ENST00000322054.5	+	6	1845	c.1560G>A	c.(1558-1560)gaG>gaA	p.E520E	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	520	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGCCCAACGAGCTGCCTGCCC	0.612																																																	0								ENSG00000013016						66.0	64.0	65.0					2																	31489522		2203	4300	6503	EHD3	SO:0001819	synonymous_variant	0			-	HGNC	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1560G>A	2.37:g.31489522G>A		Somatic	0	50	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.E520	ENST00000322054.5	37	c.1560	CCDS1774.1	2																																																																																			-	smart_EPS15_homology,pfscan_EPS15_homology		0.612	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	protein_coding	OTTHUMT00000216810.1	G	NM_014600	-		31489522	+1	no_errors	ENST00000322054	ensembl	human	known	74_37	silent	SNP	1.000	A
LAMB1	3912	genome.wustl.edu	37	7	107577718	107577718	+	Silent	SNP	G	G	A			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr7:107577718G>A	ENST00000222399.6	-	26	3996	c.3766C>T	c.(3766-3768)Ctg>Ttg	p.L1256L	LAMB1_ENST00000474380.1_5'Flank|LAMB1_ENST00000393561.1_Silent_p.L1280L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1256	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TCTTTAATCAGTTTCCTGTAA	0.343																																																	0								ENSG00000091136						161.0	148.0	152.0					7																	107577718		2203	4300	6503	LAMB1	SO:0001819	synonymous_variant	0			-	HGNC	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3766C>T	7.37:g.107577718G>A		Somatic	0	60	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	72	16.28	Q14D91	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1256	ENST00000222399.6	37	c.3766	CCDS5750.1	7																																																																																			-	superfamily_t-SNARE		0.343	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	protein_coding	OTTHUMT00000314584.1	G	NM_002291	-		107577718	-1	no_errors	ENST00000222399	ensembl	human	known	74_37	silent	SNP	1.000	A
MB21D2	151963	genome.wustl.edu	37	3	192516631	192516631	+	Silent	SNP	G	G	A			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr3:192516631G>A	ENST00000392452.2	-	2	1340	c.1020C>T	c.(1018-1020)tgC>tgT	p.C340C		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	340							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GAAGTCTGTCGCAGGCCCAGA	0.537																																																	0								ENSG00000180611						56.0	53.0	54.0					3																	192516631		2203	4300	6503	MB21D2	SO:0001819	synonymous_variant	0			-	HGNC	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1020C>T	3.37:g.192516631G>A		Somatic	0	22	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q86VD8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Mab-21_dom	p.C340	ENST00000392452.2	37	c.1020	CCDS3302.2	3																																																																																			-	pfam_Mab-21_dom		0.537	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	protein_coding	OTTHUMT00000341543.1	G	NM_178496	-		192516631	-1	no_errors	ENST00000392452	ensembl	human	known	74_37	silent	SNP	0.983	A
EXOC8	149371	genome.wustl.edu	37	1	231472575	231472575	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chr1:231472575G>T	ENST00000360394.2	-	1	1003	c.917C>A	c.(916-918)tCc>tAc	p.S306Y	SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.S302Y|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	306					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGTGGCCTTGGAAGTCACTTG	0.577																																																	0								ENSG00000116903						106.0	94.0	98.0					1																	231472575		2203	4300	6503	EXOC8	SO:0001583	missense	0			-	HGNC	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.917C>A	1.37:g.231472575G>T	ENSP00000353564:p.Ser306Tyr	Somatic	0	44	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B3KU33|Q5TE82	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S306Y	ENST00000360394.2	37	c.917	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912738	0.52439	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.78595	-1.19;-1.19	5.55	4.63	0.57726	.	0.294857	0.31636	N	0.007309	T	0.53818	0.1820	N	0.08118	0	0.37831	D	0.928722	P	0.42785	0.79	B	0.28784	0.094	T	0.62407	-0.6861	10	0.37606	T	0.19	-4.1596	14.1217	0.65192	0.0723:0.0:0.9277:0.0	.	306	Q8IYI6	EXOC8_HUMAN	Y	306;302	ENSP00000353564:S306Y;ENSP00000355605:S302Y	ENSP00000353564:S306Y	S	-	2	0	EXOC8	229539198	0.749000	0.28305	0.807000	0.32361	0.968000	0.65278	2.205000	0.42770	1.320000	0.45209	0.561000	0.74099	TCC	-	NULL		0.577	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	protein_coding		G	NM_175876	-		231472575	-1	no_errors	ENST00000360394	ensembl	human	known	74_37	missense	SNP	0.958	T
MED12	9968	genome.wustl.edu	37	X	70352782	70352782	+	Silent	SNP	C	C	T			TCGA-DX-AB2S-01A-11D-A38Z-09	TCGA-DX-AB2S-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1fcf2d5-ca57-48a0-9a53-25a98af18d44	204c8358-19d2-4a10-9df1-fa03c655b6c9	g.chrX:70352782C>T	ENST00000374080.3	+	32	4535	c.4503C>T	c.(4501-4503)acC>acT	p.T1501T	MED12_ENST00000333646.6_Silent_p.T1501T|MED12_ENST00000374102.1_Silent_p.T1501T			Q93074	MED12_HUMAN	mediator complex subunit 12	1501					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GACTCCTTACCTCCCTCTACA	0.547			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0								ENSG00000184634						41.0	38.0	39.0					X																	70352782		2004	4157	6161	MED12	SO:0001819	synonymous_variant	0			-	HGNC	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4503C>T	X.37:g.70352782C>T		Somatic	0	32	0.00		0.7040775030559974	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.T1501	ENST00000374080.3	37	c.4503	CCDS43970.1	X																																																																																			-	NULL		0.547	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	protein_coding	OTTHUMT00000057105.1	C	NM_005120	-		70352782	+1	no_errors	ENST00000333646	ensembl	human	known	74_37	silent	SNP	1.000	T
