#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
LRP1B	53353	genome.wustl.edu	37	2	141298623	141298623	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:141298623A>T	ENST00000389484.3	-	45	8403	c.7432T>A	c.(7432-7434)Ttg>Atg	p.L2478M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2478	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L2478L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAAGGCACAAGTCATGGCAG	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000168702						125.0	117.0	120.0					2																	141298623		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7432T>A	2.37:g.141298623A>T	ENSP00000374135:p.Leu2478Met	Somatic	0	68	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	41	24.07	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L2478M	ENST00000389484.3	37	c.7432	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234072	0.79688	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	6.03	4.18	0.49190	Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000009	D	0.94791	0.8318	M	0.84948	2.725	0.44155	D	0.996951	D	0.76494	0.999	D	0.85130	0.997	D	0.93869	0.7160	10	0.56958	D	0.05	.	9.1736	0.37098	0.2724:0.0:0.7276:0.0	.	2478	Q9NZR2	LRP1B_HUMAN	M	2478;2416	ENSP00000374135:L2478M	ENSP00000374135:L2478M	L	-	1	2	LRP1B	141015093	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.193000	0.50997	0.882000	0.36016	-0.177000	0.13119	TTG	-	smart_EG-like_dom		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	A	NM_018557	-		141298623	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	T
RN7SL319P	106479339	genome.wustl.edu	37	15	76077689	76077690	+	RNA	INS	-	-	G	rs200411336	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr15:76077689_76077690insG	ENST00000395215.3	+	0	1184				RN7SL319P_ENST00000480656.2_RNA																							agcaagatcttgttcttaaaag	0.515													|||unknown(NO_COVERAGE)	899	0.179513	0.0817	0.255	5008	,	,		17448	0.2599		0.2028	False		,,,				2504	0.1513																0								ENSG00000241807																																			RN7SL319P			0				HGNC																													15.37:g.76077690_76077690dupG		Somatic	0	41	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	58	13.43		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000395215.3	37	NULL		15																																																																																			-	-		0.515	RP11-24M17.5-001	KNOWN	basic	processed_transcript	RN7SL319P	pseudogene	OTTHUMT00000420501.1	-				76077690	+1	no_errors	ENST00000480656	ensembl	human	known	74_37	rna	INS	0.981:0.985	G
DCHS2	54798	genome.wustl.edu	37	4	155244445	155244445	+	Intron	SNP	C	C	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:155244445C>A	ENST00000357232.4	-	13	2653				DCHS2_ENST00000339452.1_Missense_Mutation_p.G1352V	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGACTGCTTCCCAAATGCTGT	0.408																																																	0								ENSG00000197410						78.0	59.0	65.0					4																	155244445		692	1591	2283	DCHS2	SO:0001627	intron_variant	0			-	HGNC	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2654-805G>T	4.37:g.155244445C>A		Somatic	0	48	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1352V	ENST00000357232.4	37	c.4055	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	0.410	-0.913673	0.02415	.	.	ENSG00000197410	ENST00000339452;ENST00000544161	T	0.58506	0.33	2.27	-4.54	0.03452	.	.	.	.	.	T	0.36826	0.0981	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26121	-1.0112	9	0.87932	D	0	.	10.8587	0.46815	0.2654:0.7346:0.0:0.0	.	1352	E9PC11	.	V	1352	ENSP00000345062:G1352V	ENSP00000345062:G1352V	G	-	2	0	DCHS2	155463895	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.522000	0.06237	-1.127000	0.02925	-1.956000	0.00482	GGG	-	NULL		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	C	NM_001142552	-		155244445	-1	no_errors	ENST00000339452	ensembl	human	known	74_37	missense	SNP	0.000	A
AC026320.1	0	genome.wustl.edu	37	3	191693744	191693749	+	RNA	DEL	GTGTGT	GTGTGT	-	rs199865256|rs371584059		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	GTGTGT	GTGTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr3:191693744_191693749delGTGTGT	ENST00000401201.1	+	0	2_7																											ctctctctcCgtgtgtgtgtgtgtgt	0.49																																																	0								ENSG00000216020																																			AC026320.1			0				Clone_based_ensembl_gene																													3.37:g.191693750_191693755delGTGTGT		Somatic	NA	NA	NA		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000401201.1	37	NULL		3																																																																																			-	-		0.490	AC026320.1-201	NOVEL	basic	miRNA	ENSG00000216020	miRNA		GTGTGT				191693749	+1	no_errors	ENST00000401201	ensembl	human	novel	74_37	rna	DEL	0.000:0.000:0.000:0.000:0.000:0.000	-
ZNF180	7733	genome.wustl.edu	37	19	44981660	44981660	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr19:44981660A>C	ENST00000221327.4	-	5	1319	c.1038T>G	c.(1036-1038)aaT>aaG	p.N346K	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Missense_Mutation_p.N319K|ZNF180_ENST00000391956.4_Missense_Mutation_p.N321K	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTTCAGAATTATTTCTCATGT	0.383																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												0								ENSG00000167384						72.0	75.0	74.0					19																	44981660		2203	4300	6503	ZNF180	SO:0001583	missense	0			-	HGNC	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1038T>G	19.37:g.44981660A>C	ENSP00000221327:p.Asn346Lys	Somatic	0	44	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	47	20.34	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	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.N346K	ENST00000221327.4	37	c.1038	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	A	14.21	2.467974	0.43839	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.00737	5.76;5.76	5.01	1.79	0.24919	.	0.492323	0.17176	N	0.184078	T	0.00440	0.0014	N	0.02412	-0.56	0.28809	N	0.898344	P;P;P	0.38677	0.589;0.642;0.642	B;B;B	0.34991	0.122;0.193;0.193	T	0.51252	-0.8729	10	0.66056	D	0.02	-14.4897	6.9385	0.24481	0.7032:0.0:0.2968:0.0	.	321;345;346	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	K	346;321	ENSP00000221327:N346K;ENSP00000375818:N321K	ENSP00000221327:N346K	N	-	3	2	ZNF180	49673500	0.000000	0.05858	0.909000	0.35828	0.943000	0.58893	0.031000	0.13710	0.262000	0.21774	0.533000	0.62120	AAT	-	NULL		0.383	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	protein_coding	OTTHUMT00000451601.1	A	NM_013256	-		44981660	-1	no_errors	ENST00000221327	ensembl	human	known	74_37	missense	SNP	0.534	C
IL10RA	3587	genome.wustl.edu	37	11	117864124	117864124	+	Splice_Site	SNP	C	C	T	rs564148493		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:117864124C>T	ENST00000227752.3	+	4	656	c.536C>T	c.(535-537)aCg>aTg	p.T179M	IL10RA_ENST00000545409.1_Splice_Site_p.T30M|IL10RA_ENST00000541785.1_Splice_Site_p.T159M|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	179					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGAAACTTCACGGTATGGGGT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		20063	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000110324						61.0	57.0	59.0					11																	117864124		2200	4296	6496	IL10RA	SO:0001630	splice_region_variant	0			-	HGNC	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.537+1C>T	11.37:g.117864124C>T		Somatic	0	26	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	7	69.57	A8K6I0|B0YJ27	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Fibronectin_type3	p.T179M	ENST00000227752.3	37	c.536	CCDS8388.1	11	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945095	0.53079	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.51071	0.72;0.72;0.72	5.84	-2.23	0.06930	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.348970	0.04352	N	0.355872	T	0.43010	0.1228	L	0.47716	1.5	0.24126	N	0.995786	P;D	0.67145	0.855;0.996	B;B	0.42495	0.119;0.389	T	0.53760	-0.8393	10	0.51188	T	0.08	-0.0138	11.4315	0.50043	0.7419:0.1875:0.0:0.0706	.	159;179	F5GYV8;Q13651	.;I10R1_HUMAN	M	179;159;30;159	ENSP00000227752:T179M;ENSP00000441397:T159M;ENSP00000443019:T30M	ENSP00000227752:T179M	T	+	2	0	IL10RA	117369334	0.000000	0.05858	0.009000	0.14445	0.008000	0.06430	-0.943000	0.03917	-0.357000	0.08175	-0.274000	0.10170	ACG	-	superfamily_Fibronectin_type3		0.567	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10RA	protein_coding	OTTHUMT00000390167.1	C		-	Missense_Mutation	117864124	+1	no_errors	ENST00000227752	ensembl	human	known	74_37	missense	SNP	0.006	T
OTOP1	133060	genome.wustl.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	CCACAGCAG	CCACAGCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)						ENSG00000163982																																			OTOP1	SO:0001651	inframe_deletion	0				HGNC	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del	Somatic	NA	NA	NA		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A1L476	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Otopetrin	p.LLW104in_frame_del	ENST00000296358.4	37	c.318_310	CCDS3372.1	4																																																																																			-	NULL		0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	protein_coding	OTTHUMT00000206661.2	CCACAGCAG	NM_177998			4228282	-1	no_errors	ENST00000296358	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:0.995:0.999:0.998:0.998:1.000:1.000	-
COL6A4P1	344875	genome.wustl.edu	37	3	15219382	15219382	+	RNA	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr3:15219382C>T	ENST00000446690.2	-	0	561					NR_027927.1				collagen, type VI, alpha 4 pseudogene 1																		TTGGCTTGCCCGGCTCCCTGA	0.562																																																	0								ENSG00000230524																																			COL6A4P1			0			-	HGNC	AB299979		3p25.1	2013-01-16	2010-05-24	2010-05-24	ENSG00000230524	ENSG00000230524		"""Collagens"""	33484	pseudogene	pseudogene	"""von Willebrand factor A domain containing 6"", ""collagen, type VI, alpha 4"", ""collagen, type VI, alpha 4, pseudogene"""	612397	"""dual von Willebrand factor A domains"""	DVWA		19507504, 19486942	Standard	NR_027927		Approved	VWA6, DIVA, COL6A4, COL6A4P	uc011avo.1		OTTHUMG00000154983		3.37:g.15219382C>T		Somatic	0	42	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000446690.2	37	NULL		3																																																																																			-	-		0.562	COL6A4P1-002	KNOWN	basic	processed_transcript	COL6A4P1	pseudogene	OTTHUMT00000337912.1	C	NR_027927	-		15219382	-1	no_errors	ENST00000446690	ensembl	human	known	74_37	rna	SNP	0.995	T
TTYH1	57348	genome.wustl.edu	37	19	54940506	54940506	+	Silent	SNP	G	G	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr19:54940506G>A	ENST00000376530.3	+	6	859	c.756G>A	c.(754-756)ctG>ctA	p.L252L	TTYH1_ENST00000391739.3_Silent_p.L301L|AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000376531.3_Silent_p.L252L|TTYH1_ENST00000301194.4_Silent_p.L252L|TTYH1_ENST00000489425.1_3'UTR	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	252					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGAGTCTCCTGGTTCTCGTCC	0.632																																																	0								ENSG00000167614						63.0	64.0	64.0					19																	54940506		2203	4300	6503	TTYH1	SO:0001819	synonymous_variant	0			-	HGNC	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.756G>A	19.37:g.54940506G>A		Somatic	1	113	0.88		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	85	39.44	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tweety	p.L252	ENST00000376530.3	37	c.756	CCDS12893.1	19																																																																																			-	pfam_Tweety		0.632	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	protein_coding	OTTHUMT00000140498.1	G		-		54940506	+1	no_errors	ENST00000376531	ensembl	human	known	74_37	silent	SNP	1.000	A
TESK2	10420	genome.wustl.edu	37	1	45809610	45809610	+	3'UTR	DEL	A	A	-			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:45809610delA	ENST00000372086.3	-	0	3018				TOE1_ENST00000495703.1_3'UTR|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_3'UTR|TESK2_ENST00000341771.6_3'UTR|TOE1_ENST00000372090.5_3'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2						actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AAAGTTTTACAAAAAAAAAAA	0.363																																																	0								ENSG00000070759																																			TESK2	SO:0001624	3_prime_UTR_variant	0				HGNC	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.*902T>-	1.37:g.45809610delA		Somatic	0	19	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q5T422|Q5T423|Q8N520|Q9Y3Q6	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000372086.3	37	NULL	CCDS41323.1	1																																																																																			-	-		0.363	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	protein_coding	OTTHUMT00000020523.1	A	NM_007170			45809610	-1	no_errors	ENST00000486676	ensembl	human	known	74_37	rna	DEL	0.794	-
CTTN	2017	genome.wustl.edu	37	11	70277327	70277327	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:70277327C>A	ENST00000301843.8	+	15	1413	c.1207C>A	c.(1207-1209)Cct>Act	p.P403T	CTTN_ENST00000538675.1_Missense_Mutation_p.P87T|CTTN_ENST00000346329.3_Missense_Mutation_p.P366T|CTTN_ENST00000376561.3_Missense_Mutation_p.P366T	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	403					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GCAAACGCCCCCTGTGTCGCC	0.552																																																	0								ENSG00000085733						120.0	130.0	127.0					11																	70277327		2200	4294	6494	CTTN	SO:0001583	missense	0			-	HGNC	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1207C>A	11.37:g.70277327C>A	ENSP00000301843:p.Pro403Thr	Somatic	0	42	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q8N707|Q96H99	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.P403T	ENST00000301843.8	37	c.1207	CCDS41680.1	11	.	.	.	.	.	.	.	.	.	.	C	5.094	0.202924	0.09704	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000538675;ENST00000529736	T;T;T;T;T	0.35421	1.38;1.41;1.31;1.62;1.5	4.99	0.295	0.15752	Src homology-3 domain (1);	0.156567	0.41194	D	0.000932	T	0.20618	0.0496	L	0.29908	0.895	0.19300	N	0.999977	P;B;B;B	0.38551	0.636;0.002;0.0;0.03	B;B;B;B	0.34242	0.178;0.001;0.001;0.01	T	0.11227	-1.0596	10	0.48119	T	0.1	-1.4765	7.3314	0.26584	0.1223:0.6529:0.0:0.2248	.	87;366;403;366	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	T	366;403;366;87;60	ENSP00000317189:P366T;ENSP00000301843:P403T;ENSP00000365745:P366T;ENSP00000439762:P87T;ENSP00000431421:P60T	ENSP00000301843:P403T	P	+	1	0	CTTN	69954975	0.963000	0.33076	0.001000	0.08648	0.002000	0.02628	1.666000	0.37460	0.153000	0.19213	-0.267000	0.10333	CCT	-	superfamily_SH3_domain,prints_p67phox		0.552	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTN	protein_coding	OTTHUMT00000259233.2	C	NM_138565	-		70277327	+1	no_errors	ENST00000301843	ensembl	human	known	74_37	missense	SNP	0.007	A
CLEC18B	497190	genome.wustl.edu	37	16	74446949	74446949	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr16:74446949G>T	ENST00000339953.5	-	5	783	c.662C>A	c.(661-663)gCa>gAa	p.A221E		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	221						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGCCCCCCTGCATGGTCCCA	0.607																																																	0								ENSG00000140839						35.0	40.0	38.0					16																	74446949		2196	4274	6470	CLEC18B	SO:0001583	missense	0			-	HGNC	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.662C>A	16.37:g.74446949G>T	ENSP00000341051:p.Ala221Glu	Somatic	0	122	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	76	14.61	B4DF90	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.A221E	ENST00000339953.5	37	c.662	CCDS32484.1	16	.	.	.	.	.	.	.	.	.	.	g	9.877	1.200487	0.22121	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.22743	1.94	3.14	-0.771	0.11002	.	0.473962	0.22396	N	0.060601	T	0.08044	0.0201	N	0.19112	0.55	0.26034	N	0.981699	B;B;B	0.31680	0.335;0.002;0.004	B;B;B	0.30943	0.122;0.004;0.004	T	0.35450	-0.9788	10	0.02654	T	1	.	5.0197	0.14354	0.0:0.2074:0.3703:0.4222	.	141;221;221	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	E	221;221;221;141	ENSP00000341051:A221E	ENSP00000268492:A221E	A	-	2	0	CLEC18B	73004450	0.006000	0.16342	0.850000	0.33497	0.959000	0.62525	1.447000	0.35101	0.122000	0.18314	-0.723000	0.03601	GCA	-	NULL		0.607	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	protein_coding	OTTHUMT00000434697.1	G	NM_001011880	-		74446949	-1	no_errors	ENST00000339953	ensembl	human	known	74_37	missense	SNP	0.729	T
DPH6	89978	genome.wustl.edu	37	15	35530356	35530357	+	Intron	INS	-	-	T	rs141813373		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr15:35530356_35530357insT	ENST00000560386.1	-	4	200				ANP32AP1_ENST00000560832.1_RNA			Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										CCTGAAACTTATTTTTTTTTCT	0.46																																																	0								ENSG00000259516																																			ANP32AP1	SO:0001627	intron_variant	0				HGNC		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000560386.1:c.3239-17573->A	15.37:g.35530365_35530365dupT		Somatic	0	27	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	31	8.82	B3KWG1|Q96HJ6	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000560386.1	37	NULL		15																																																																																			-	-		0.460	DPH6-003	KNOWN	basic	processed_transcript	ANP32AP1	protein_coding	OTTHUMT00000417824.1	-	NM_080650			35530357	+1	no_errors	ENST00000560832	ensembl	human	known	74_37	rna	INS	0.997:0.996	T
KCNK10	54207	genome.wustl.edu	37	14	88652381	88652381	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr14:88652381A>G	ENST00000340700.5	-	7	1566	c.1115T>C	c.(1114-1116)aTc>aCc	p.I372T	KCNK10_ENST00000319231.5_Missense_Mutation_p.I377T|KCNK10_ENST00000312350.5_Missense_Mutation_p.I377T	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	372					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CATGCTGCGGATGGTGGCCGC	0.667																																																	0								ENSG00000100433						26.0	27.0	27.0					14																	88652381		2193	4279	6472	KCNK10	SO:0001583	missense	0			-	HGNC	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1115T>C	14.37:g.88652381A>G	ENSP00000343104:p.Ile372Thr	Somatic	0	49	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	51	23.88	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.I377T	ENST00000340700.5	37	c.1130	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	A	19.01	3.744354	0.69418	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.91792	-2.9;-2.9;-2.91	5.95	5.95	0.96441	.	0.108661	0.64402	D	0.000006	D	0.92273	0.7549	L	0.54323	1.7	0.51233	D	0.999913	B;P;P	0.35527	0.288;0.507;0.507	B;B;B	0.43838	0.433;0.433;0.433	D	0.92254	0.5811	10	0.62326	D	0.03	.	15.6048	0.76658	1.0:0.0:0.0:0.0	.	372;377;377	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	T	372;377;377	ENSP00000343104:I372T;ENSP00000310568:I377T;ENSP00000312811:I377T	ENSP00000310568:I377T	I	-	2	0	KCNK10	87722134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.315000	0.96313	2.279000	0.76181	0.533000	0.62120	ATC	-	prints_2pore_dom_K_chnl_TREK		0.667	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	protein_coding	OTTHUMT00000410167.1	A	NM_021161	-		88652381	-1	no_errors	ENST00000312350	ensembl	human	known	74_37	missense	SNP	1.000	G
LOC400743	400743	genome.wustl.edu	37	1	17520942	17520943	+	lincRNA	DEL	TT	TT	-			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:17520942_17520943delTT	ENST00000412427.1	+	0	1506_1507																											cttcgttctgttcctccctctg	0.554																																																	0								ENSG00000204362																																			RP11-380J14.1			0				Clone_based_vega_gene																													1.37:g.17520942_17520943delTT		Somatic	0	107	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	99	10.81		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000412427.1	37	NULL		1																																																																																			-	-		0.554	RP11-380J14.1-001	KNOWN	basic	lincRNA	LOC400743	lincRNA	OTTHUMT00000006615.1	TT				17520943	+1	no_errors	ENST00000412427	ensembl	human	known	74_37	rna	DEL	0.032:0.027	-
ARF1	375	genome.wustl.edu	37	1	228286501	228286501	+	3'UTR	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:228286501C>T	ENST00000541182.1	+	0	1595				MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000272102.5_3'UTR|C1orf35_ENST00000472617.1_5'Flank|ARF1_ENST00000540651.1_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				AGAGTGGGTCCGTCGTCCCCA	0.682																																																	0								ENSG00000143761																																			ARF1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.*787C>T	1.37:g.228286501C>T		Somatic	0	73	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	40	43.66	P10947|P32889	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000541182.1	37	NULL	CCDS1565.1	1																																																																																			-	-		0.682	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF1	protein_coding	OTTHUMT00000091650.1	C	NM_001024227	-		228286501	+1	no_errors	ENST00000477821	ensembl	human	putative	74_37	rna	SNP	0.000	T
SRBD1	55133	genome.wustl.edu	37	2	45620241	45620241	+	Silent	SNP	C	C	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:45620241C>A	ENST00000263736.4	-	20	2603	c.2541G>T	c.(2539-2541)ctG>ctT	p.L847L	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Silent_p.L366L	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	847					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CAACCTCATACAGTGTCCCTC	0.363																																																	0								ENSG00000068784						131.0	111.0	118.0					2																	45620241		2203	4300	6503	SRBD1	SO:0001819	synonymous_variant	0			-	HGNC	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2541G>T	2.37:g.45620241C>A		Somatic	0	46	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q53T56|Q96TA4|Q9NW11	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.L847	ENST00000263736.4	37	c.2541	CCDS1823.1	2																																																																																			-	NULL		0.363	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	protein_coding	OTTHUMT00000250747.3	C	NM_018079	-		45620241	-1	no_errors	ENST00000263736	ensembl	human	known	74_37	silent	SNP	0.007	A
CACNA1H	8912	genome.wustl.edu	37	16	1265078	1265078	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr16:1265078A>G	ENST00000348261.5	+	28	5284	c.5036A>G	c.(5035-5037)gAc>gGc	p.D1679G	CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1673G|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1673G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1679					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TTCTTCAAGGACAGGTGTGTG	0.617																																																	0								ENSG00000196557						148.0	141.0	143.0					16																	1265078		2003	4151	6154	CACNA1H	SO:0001583	missense	0			-	HGNC	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5036A>G	16.37:g.1265078A>G	ENSP00000334198:p.Asp1679Gly	Somatic	0	79	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	85	27.35	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.D1679G	ENST00000348261.5	37	c.5036	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114187	0.56505	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98862	-5.19;-5.19	4.04	4.04	0.47022	Ion transport (1);	0.063541	0.64402	D	0.000002	D	0.99020	0.9665	M	0.84585	2.705	0.58432	D	0.99999	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.992;0.992	D;D;D;D;D	0.78314	0.991;0.99;0.99;0.917;0.952	D	0.99441	1.0938	10	0.87932	D	0	.	12.5884	0.56430	1.0:0.0:0.0:0.0	.	425;414;420;1673;1679	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	G	1679;1673	ENSP00000334198:D1679G;ENSP00000351401:D1673G	ENSP00000334198:D1679G	D	+	2	0	CACNA1H	1205079	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.031000	0.76491	1.810000	0.52873	0.402000	0.26972	GAC	-	pfam_Ion_trans_dom		0.617	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	protein_coding	OTTHUMT00000421601.1	A	NM_001005407	-		1265078	+1	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	SNP	1.000	G
AC136188.1	0	genome.wustl.edu	37	12	74293692	74293701	+	RNA	DEL	ATACACATAC	ATACACATAC	-	rs146159159|rs199815745|rs11179832|rs375254855|rs61932864|rs61932865|rs199501745|rs370436341|rs142009105	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	ATACACATAC	ATACACATAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr12:74293692_74293701delATACACATAC	ENST00000606199.1	+	0	43_52																											atatatatatatacacatacacacacacac	0.281																																																	0								ENSG00000272231																																			AC136188.1			0				Clone_based_ensembl_gene																													12.37:g.74293692_74293701delATACACATAC		Somatic	NA	NA	NA		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000606199.1	37	NULL		12																																																																																			-	-		0.281	AC136188.1-201	NOVEL	basic	miRNA	ENSG00000272231	miRNA		ATACACATAC				74293701	+1	no_errors	ENST00000606199	ensembl	human	novel	74_37	rna	DEL	0.002:0.002:0.002:0.002:0.004:0.007:0.009:0.010:0.011:0.011	-
DBNL	28988	genome.wustl.edu	37	7	44089997	44089997	+	Intron	SNP	G	G	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr7:44089997G>T	ENST00000448521.1	+	2	237				DBNL_ENST00000440166.1_Intron|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Intron|DBNL_ENST00000452943.1_Intron|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000494774.1_Intron|DBNL_ENST00000468694.1_Intron	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GTGCTCACTGGCCACTTCTGG	0.557																																					NSCLC(68;573 1327 18604 34760 37992)												0								ENSG00000136279																																			DBNL	SO:0001627	intron_variant	0			-	HGNC	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.139+118G>T	7.37:g.44089997G>T		Somatic	0	23	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	21.43	A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000448521.1	37	NULL	CCDS34623.1	7																																																																																			-	-		0.557	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBNL	protein_coding	OTTHUMT00000339572.2	G	NM_014063	-		44089997	+1	no_errors	ENST00000497184	ensembl	human	known	74_37	rna	SNP	0.000	T
GRHPR	9380	genome.wustl.edu	37	9	37430673	37430673	+	Intron	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr9:37430673C>T	ENST00000318158.6	+	7	819				GRHPR_ENST00000607784.1_Intron	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase						cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CCCAGCAAGCCTGGAGAGGAG	0.532																																																	0								ENSG00000137106						40.0	34.0	36.0					9																	37430673		2202	4300	6502	GRHPR	SO:0001627	intron_variant	0			-	HGNC	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.734+30C>T	9.37:g.37430673C>T		Somatic	0	81	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	67	39.29	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_D-isomer_2_OHA_DH_NAD-bd	p.P112L	ENST00000318158.6	37	c.335	CCDS6609.1	9	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327980	0.41197	.	.	ENSG00000137106	ENST00000377824;ENST00000438860	T	0.80480	-1.38	3.35	3.35	0.38373	.	1.007950	0.07958	N	0.981909	T	0.76919	0.4055	.	.	.	0.80722	D	1	P;P	0.44627	0.503;0.839	B;B	0.39971	0.315;0.264	T	0.76263	-0.3023	9	0.72032	D	0.01	.	12.4963	0.55929	0.0:1.0:0.0:0.0	.	255;112	Q5T946;Q9H636	.;.	L	255;112	ENSP00000367055:P255L	ENSP00000367055:P255L	P	+	2	0	GRHPR	37420673	0.000000	0.05858	0.009000	0.14445	0.136000	0.21042	0.104000	0.15313	2.184000	0.69523	0.563000	0.77884	CCT	-	NULL		0.532	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHPR	protein_coding	OTTHUMT00000052442.1	C	NM_012203	-		37430673	+1	no_errors	ENST00000494290	ensembl	human	known	74_37	missense	SNP	0.017	T
CSMD1	64478	genome.wustl.edu	37	8	4494979	4494979	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr8:4494979T>C	ENST00000520002.1	-	2	742	c.187A>G	c.(187-189)Atc>Gtc	p.I63V	CSMD1_ENST00000602723.1_Missense_Mutation_p.I63V|CSMD1_ENST00000400186.3_Missense_Mutation_p.I63V|CSMD1_ENST00000542608.1_Missense_Mutation_p.I63V|CSMD1_ENST00000602557.1_Missense_Mutation_p.I63V|CSMD1_ENST00000537824.1_Missense_Mutation_p.I63V|CSMD1_ENST00000539096.1_Missense_Mutation_p.I63V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	63	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCGCCCGTGATGATGATCCAG	0.483																																																	0								ENSG00000183117						123.0	123.0	123.0					8																	4494979		1948	4172	6120	CSMD1	SO:0001583	missense	0			-	HGNC			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.187A>G	8.37:g.4494979T>C	ENSP00000430733:p.Ile63Val	Somatic	0	39	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.I63V	ENST00000520002.1	37	c.187		8	.	.	.	.	.	.	.	.	.	.	T	8.448	0.852377	0.17106	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.12	-1.99	0.07457	.	.	.	.	.	T	0.04588	0.0125	N	0.02736	-0.51	0.18873	N	0.999987	B	0.02656	0.0	B	0.04013	0.001	T	0.39623	-0.9605	9	0.02654	T	1	.	4.95	0.14009	0.0:0.2374:0.275:0.4876	.	63	E5RIG2	.	V	63	ENSP00000383047:I63V;ENSP00000430733:I63V;ENSP00000441462:I63V;ENSP00000446243:I63V;ENSP00000441675:I63V	ENSP00000383047:I63V	I	-	1	0	CSMD1	4482387	0.577000	0.26708	0.003000	0.11579	0.955000	0.61496	0.848000	0.27710	-0.622000	0.05626	0.477000	0.44152	ATC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	T	NM_033225	-		4494979	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	SNP	0.277	C
ITGB2	3689	genome.wustl.edu	37	21	46311876	46311876	+	Silent	SNP	G	G	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr21:46311876G>A	ENST00000397850.2	-	12	1712	c.1260C>T	c.(1258-1260)tgC>tgT	p.C420C	ITGB2_ENST00000397857.1_Silent_p.C420C|ITGB2_ENST00000302347.5_Silent_p.C420C|ITGB2_ENST00000355153.4_Silent_p.C420C|ITGB2_ENST00000397852.1_Silent_p.C420C|ITGB2_ENST00000397854.3_Silent_p.C363C			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	420					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCTCCTGGATGCACTCTGTGG	0.647																																																	0								ENSG00000160255						88.0	67.0	74.0					21																	46311876		2200	4300	6500	ITGB2	SO:0001819	synonymous_variant	0			-	HGNC	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1260C>T	21.37:g.46311876G>A		Somatic	0	36	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.C420	ENST00000397850.2	37	c.1260	CCDS13716.1	21																																																																																			-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N		0.647	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	protein_coding	OTTHUMT00000206566.2	G	NM_000211	-		46311876	-1	no_errors	ENST00000302347	ensembl	human	known	74_37	silent	SNP	0.930	A
AC026320.1	0	genome.wustl.edu	37	3	191693737	191693749	+	RNA	DEL	TCTCTCCGTGTGT	TCTCTCCGTGTGT	-	rs199865256|rs371584059		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	TCTCTCCGTGTGT	TCTCTCCGTGTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr3:191693737_191693749delTCTCTCCGTGTGT	ENST00000401201.1	+	0	0_7																											tctctctctctctctcCgtgtgtgtgtgtgtgt	0.484																																																	0								ENSG00000216020																																			AC026320.1			0				Clone_based_ensembl_gene																													3.37:g.191693737_191693749delTCTCTCCGTGTGT		Somatic	NA	NA	NA		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000401201.1	37	NULL		3																																																																																			-	-		0.484	AC026320.1-201	NOVEL	basic	miRNA	ENSG00000216020	miRNA		TCTCTCCGTGTGT				191693749	+1	no_errors	ENST00000401201	ensembl	human	novel	74_37	rna	DEL	0.003:0.003:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-
CRB1	23418	genome.wustl.edu	37	1	197396672	197396672	+	Silent	SNP	C	C	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:197396672C>A	ENST00000367400.3	+	7	2352	c.2217C>A	c.(2215-2217)ctC>ctA	p.L739L	CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Silent_p.L220L|CRB1_ENST00000367399.2_Silent_p.L627L|CRB1_ENST00000535699.1_Silent_p.L670L|CRB1_ENST00000367397.1_Silent_p.L120L|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	739	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCATCAGCCTCTCCATGTTTG	0.468																																																	0								ENSG00000134376						87.0	78.0	81.0					1																	197396672		2203	4300	6503	CRB1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2217C>A	1.37:g.197396672C>A		Somatic	0	43	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	35	43.55	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L739	ENST00000367400.3	37	c.2217	CCDS1390.1	1																																																																																			-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	protein_coding	OTTHUMT00000086565.2	C	NM_201253	-		197396672	+1	no_errors	ENST00000367400	ensembl	human	known	74_37	silent	SNP	0.727	A
BCR	613	genome.wustl.edu	37	22	23659864	23659864	+	3'UTR	SNP	C	C	T	rs3869874	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr22:23659864C>T	ENST00000305877.8	+	0	6722				BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region						actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GCTCCTCTCCCGCAGGGTCCC	0.537			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								c|||	2505	0.5002	0.6225	0.5735	5008	,	,		14906	0.3998		0.5388	False		,,,				2504	0.3466							Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0								ENSG00000186716																																			BCR	SO:0001624	3_prime_UTR_variant	0			-	HGNC		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.*2155C>T	22.37:g.23659864C>T		Somatic	0	23	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	P78501|Q12842|Q4LE80|Q6NZI3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000305877.8	37	NULL	CCDS13806.1	22																																																																																			-	-		0.537	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	protein_coding	OTTHUMT00000075819.1	C	NM_004327	rs202061168		23659864	+1	no_errors	ENST00000436990	ensembl	human	known	74_37	rna	SNP	0.000	T
CYP1A2	1544	genome.wustl.edu	37	15	75042751	75042751	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr15:75042751T>A	ENST00000343932.4	+	2	735	c.672T>A	c.(670-672)caT>caA	p.H224Q		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	224					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	AGAACACTCATGAGTTCGTGG	0.577																																																	0								ENSG00000140505						250.0	218.0	229.0					15																	75042751		2197	4296	6493	CYP1A2	SO:0001583	missense	0			-	HGNC	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.672T>A	15.37:g.75042751T>A	ENSP00000342007:p.His224Gln	Somatic	0	41	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.H224Q	ENST00000343932.4	37	c.672	CCDS32293.1	15	.	.	.	.	.	.	.	.	.	.	t	6.925	0.540409	0.13250	.	.	ENSG00000140505	ENST00000343932	T	0.66460	-0.21	4.98	-8.72	0.00845	.	0.882939	0.10181	N	0.705816	T	0.27697	0.0681	N	0.04245	-0.25	0.09310	N	0.999997	P	0.36712	0.566	B	0.24541	0.054	T	0.34030	-0.9845	10	0.66056	D	0.02	.	2.9746	0.05933	0.1726:0.3927:0.214:0.2207	.	224	P05177-2	.	Q	224	ENSP00000342007:H224Q	ENSP00000342007:H224Q	H	+	3	2	CYP1A2	72829804	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-5.382000	0.00126	-1.998000	0.00968	-0.361000	0.07541	CAT	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.577	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	protein_coding	OTTHUMT00000421263.2	T	NM_000761	-		75042751	+1	no_errors	ENST00000343932	ensembl	human	known	74_37	missense	SNP	0.000	A
CYP11B1	1584	genome.wustl.edu	37	8	143956671	143956671	+	Silent	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr8:143956671C>T	ENST00000292427.4	-	7	1211	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	CYP11B1_ENST00000377675.3_Silent_p.Q464Q|CYP11B1_ENST00000517471.1_Silent_p.Q393Q	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	393					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGTGGTAGTTCTGAAGCACCA	0.617									Familial Hyperaldosteronism type I																																								0								ENSG00000160882						72.0	66.0	68.0					8																	143956671		2203	4300	6503	CYP11B1	SO:0001819	synonymous_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	-	HGNC	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1179G>A	8.37:g.143956671C>T		Somatic	0	72	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	90	11.76	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.Q393	ENST00000292427.4	37	c.1179	CCDS6392.1	8																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B		0.617	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	protein_coding	OTTHUMT00000379475.2	C		-		143956671	-1	no_errors	ENST00000292427	ensembl	human	known	74_37	silent	SNP	1.000	T
COMP	1311	genome.wustl.edu	37	19	18895797	18895797	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr19:18895797C>T	ENST00000222271.2	-	16	1867	c.1823G>A	c.(1822-1824)aGc>aAc	p.S608N	COMP_ENST00000542601.2_Missense_Mutation_p.S575N|COMP_ENST00000425807.1_Missense_Mutation_p.S555N	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	608	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CACGTAGAAGCTGGAGCTGTC	0.577																																																	0								ENSG00000105664						191.0	150.0	164.0					19																	18895797		2203	4300	6503	COMP	SO:0001583	missense	0			-	HGNC	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1823G>A	19.37:g.18895797C>T	ENSP00000222271:p.Ser608Asn	Somatic	0	88	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	59	49.15	B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.S608N	ENST00000222271.2	37	c.1823	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821896	0.90873	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.95205	-3.64;-3.64;-3.64	4.19	4.19	0.49359	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.85682	U	0.000000	D	0.96131	0.8739	M	0.61703	1.905	0.80722	D	1	P;D	0.65815	0.902;0.995	P;D	0.67725	0.869;0.953	D	0.95971	0.8970	10	0.49607	T	0.09	-55.3166	15.2116	0.73227	0.0:1.0:0.0:0.0	.	555;608	B4DKJ3;P49747	.;COMP_HUMAN	N	575;608;555;595	ENSP00000439156:S575N;ENSP00000222271:S608N;ENSP00000403792:S555N	ENSP00000222271:S608N	S	-	2	0	COMP	18756797	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.514000	0.81750	2.169000	0.68431	0.484000	0.47621	AGC	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf		0.577	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	protein_coding	OTTHUMT00000403457.1	C	NM_000095	-		18895797	-1	no_errors	ENST00000222271	ensembl	human	known	74_37	missense	SNP	1.000	T
CPSF7	79869	genome.wustl.edu	37	11	61183765	61183767	+	In_Frame_Del	DEL	AGG	AGG	-	rs370932425		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:61183765_61183767delAGG	ENST00000394888.4	-	6	947_949	c.775_777delCCT	c.(775-777)cctdel	p.P259del	CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000340437.4_In_Frame_Del_p.P302del|CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	259	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AGTGGATACCAGGAGGAGGAGGA	0.611																																																	0								ENSG00000149532																																			CPSF7	SO:0001651	inframe_deletion	0				HGNC		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.775_777delCCT	11.37:g.61183774_61183776delAGG	ENSP00000378352:p.Pro259del	Somatic	0	33	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P302in_frame_del	ENST00000394888.4	37	c.906_904	CCDS44619.1	11																																																																																			-	NULL		0.611	CPSF7-006	KNOWN	basic|CCDS	protein_coding	CPSF7	protein_coding	OTTHUMT00000347835.2	AGG	NM_024811			61183767	-1	no_errors	ENST00000340437	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
ULK3	25989	genome.wustl.edu	37	15	75130779	75130779	+	Splice_Site	SNP	A	A	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr15:75130779A>G	ENST00000440863.2	-	11	1259		c.e11+1		ULK3_ENST00000568667.1_Splice_Site|ULK3_ENST00000569437.1_Splice_Site	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3						autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						ACTGGCACAAACCTTGGCCAT	0.642																																																	0								ENSG00000140474						19.0	23.0	22.0					15																	75130779		2020	4152	6172	ULK3	SO:0001630	splice_region_variant	0			-	HGNC	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.1167+1T>C	15.37:g.75130779A>G		Somatic	0	48	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	53	37.65	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e11+2	ENST00000440863.2	37	c.1167+2	CCDS45305.1	15	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054124	0.36277	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1273	0.59363	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ULK3	72917832	1.000000	0.71417	0.922000	0.36590	0.239000	0.25481	7.607000	0.82883	2.033000	0.60031	0.454000	0.30748	.	-	-		0.642	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ULK3	protein_coding	OTTHUMT00000421734.4	A	NM_015518	-	Intron	75130779	-1	no_errors	ENST00000440863	ensembl	human	known	74_37	splice_site	SNP	0.995	G
OR4D5	219875	genome.wustl.edu	37	11	123810992	123810992	+	Silent	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:123810992C>T	ENST00000307033.2	+	1	743	c.669C>T	c.(667-669)gtC>gtT	p.V223V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CACTGCTAGTCATGCTCCGAA	0.517																																																	0								ENSG00000171014						233.0	212.0	219.0					11																	123810992		2202	4299	6501	OR4D5	SO:0001819	synonymous_variant	0			-	HGNC	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.669C>T	11.37:g.123810992C>T		Somatic	0	62	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	B9EGZ4|Q6IFE6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V223	ENST00000307033.2	37	c.669	CCDS31699.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	protein_coding	OTTHUMT00000387263.1	C	NM_001001965	-		123810992	+1	no_errors	ENST00000307033	ensembl	human	known	74_37	silent	SNP	0.280	T
FRAS1	80144	genome.wustl.edu	37	4	79403057	79403057	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:79403057C>T	ENST00000264895.6	+	57	8983	c.8543C>T	c.(8542-8544)cCa>cTa	p.P2848L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2844	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTGCCACACCAGGAGTTGAC	0.537																																																	0								ENSG00000138759						129.0	134.0	133.0					4																	79403057		1954	4142	6096	FRAS1	SO:0001583	missense	0			-	HGNC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8543C>T	4.37:g.79403057C>T	ENSP00000264895:p.Pro2848Leu	Somatic	0	64	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	29	62.34	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.P2848L	ENST00000264895.6	37	c.8543	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162488	0.78226	.	.	ENSG00000138759	ENST00000264895	T	0.28666	1.6	5.69	5.69	0.88448	.	0.058912	0.64402	D	0.000001	T	0.56992	0.2023	M	0.72479	2.2	0.80722	D	1	D	0.63880	0.993	D	0.67382	0.951	T	0.57871	-0.7736	10	0.72032	D	0.01	.	19.8771	0.96880	0.0:1.0:0.0:0.0	.	2848	E9PHH6	.	L	2848	ENSP00000264895:P2848L	ENSP00000264895:P2848L	P	+	2	0	FRAS1	79622081	1.000000	0.71417	0.998000	0.56505	0.118000	0.20060	7.709000	0.84645	2.687000	0.91594	0.650000	0.86243	CCA	-	pfam_Calx_beta,smart_Calx_beta		0.537	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	protein_coding		C		-		79403057	+1	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	SNP	1.000	T
ARHGAP18	93663	genome.wustl.edu	37	6	129939838	129939838	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr6:129939838delT	ENST00000368149.2	-	6	1034	c.946delA	c.(946-948)acafs	p.T316fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TTACCTTTTGTTTTGATTTTC	0.373																																																	0								ENSG00000146376						81.0	69.0	73.0					6																	129939838		2200	4295	6495	ARHGAP18	SO:0001589	frameshift_variant	0				HGNC	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.946delA	6.37:g.129939838delT	ENSP00000357131:p.Thr316fs	Somatic	0	108	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	76	46.48		Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.T316fs	ENST00000368149.2	37	c.946	CCDS34535.1	6																																																																																			-	superfamily_Rho_GTPase_activation_prot		0.373	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	protein_coding	OTTHUMT00000042185.2	T	NM_033515			129939838	-1	no_errors	ENST00000368149	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-
KRT37	8688	genome.wustl.edu	37	17	39577807	39577807	+	Silent	SNP	C	C	T	rs138622207	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr17:39577807C>T	ENST00000225550.3	-	6	1052	c.1053G>A	c.(1051-1053)gcG>gcA	p.A351A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	351	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AGCGGTCCTCCGCTTCACACA	0.542																																																	0								ENSG00000108417	G		2,4404		0,2,2201	58.0	56.0	56.0		1053	-10.7	0.0	17	dbSNP_134	56	5,8595		0,5,4295	no	coding-synonymous	KRT37	NM_003770.4		0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538		351/450	39577807	7,12999	2203	4300	6503	KRT37	SO:0001819	synonymous_variant	0			-	HGNC	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1053G>A	17.37:g.39577807C>T		Somatic	0	64	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	37	42.19		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,prints_Keratin_I	p.A351	ENST00000225550.3	37	c.1053	CCDS32653.1	17																																																																																			-	pfam_IF		0.542	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT37	protein_coding	OTTHUMT00000257714.2	C	NM_003770	rs138622207		39577807	-1	no_errors	ENST00000225550	ensembl	human	known	74_37	silent	SNP	0.000	T
LPA	4018	genome.wustl.edu	37	6	161010662	161010662	+	Silent	SNP	A	A	T	rs373702099		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr6:161010662A>T	ENST00000316300.5	-	24	3914	c.3870T>A	c.(3868-3870)gtT>gtA	p.V1290V	LPA_ENST00000447678.1_Silent_p.V1290V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3798	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCCTTCCTGTAACAGTGGTGG	0.488																																																	0								ENSG00000198670						170.0	175.0	174.0					6																	161010662		2184	4294	6478	LPA	SO:0001819	synonymous_variant	0			-	HGNC	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3870T>A	6.37:g.161010662A>T		Somatic	0	93	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	126	31.15	Q5VTD7|Q9UD88	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.V1290	ENST00000316300.5	37	c.3870	CCDS43523.1	6																																																																																			-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.488	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	protein_coding	OTTHUMT00000042957.1	A	NM_005577	-		161010662	-1	no_errors	ENST00000316300	ensembl	human	known	74_37	silent	SNP	0.288	T
BGLT3	103344929	genome.wustl.edu	37	11	5263299	5263320	+	RNA	DEL	CATAGGTACAAACATAGTGGAC	CATAGGTACAAACATAGTGGAC	-	rs113355107|rs73402614|rs547059693	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	CATAGGTACAAACATAGTGGAC	CATAGGTACAAACATAGTGGAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:5263299_5263320delCATAGGTACAAACATAGTGGAC	ENST00000564523.1	-	0	1988				HBBP1_ENST00000454892.1_RNA																							GATTTTGGGACATAGGTACAAACATAGTGGACCATAGGTACA	0.432														54	0.0107827	0.0015	0.013	5008	,	,		24332	0.001		0.0328	False		,,,				2504	0.0092																0								ENSG00000229988																																			HBBP1			0				HGNC																													11.37:g.5263299_5263320delCATAGGTACAAACATAGTGGAC		Somatic	NA	NA	NA		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000564523.1	37	NULL		11																																																																																			-	-		0.432	CTD-2643I7.1-001	KNOWN	basic	sense_overlapping	HBBP1	sense_overlapping	OTTHUMT00000422245.1	CATAGGTACAAACATAGTGGAC				5263320	-1	no_errors	ENST00000454892	ensembl	human	known	74_37	rna	DEL	0.001:0.001:0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.002:0.002:0.003:0.002:0.002:0.002:0.002:0.002	-
THSD7A	221981	genome.wustl.edu	37	7	11418974	11418974	+	Intron	SNP	T	T	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr7:11418974T>A	ENST00000423059.4	-	26	4842				AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000421121.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAGACCTGACTTGAAGAGAAG	0.343										HNSCC(18;0.044)																																							0								ENSG00000230333																																			AC004538.3	SO:0001627	intron_variant	0			-	Clone_based_vega_gene		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4591-67A>T	7.37:g.11418974T>A		Somatic	0	32	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	11	60.71		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000423059.4	37	NULL	CCDS47543.1	7																																																																																			-	-		0.343	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000230333	protein_coding	OTTHUMT00000325944.4	T	XM_928187.2	-		11418974	+1	no_errors	ENST00000421121	ensembl	human	known	74_37	rna	SNP	0.000	A
MYPN	84665	genome.wustl.edu	37	10	69881497	69881497	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr10:69881497C>T	ENST00000358913.5	+	2	790	c.302C>T	c.(301-303)tCt>tTt	p.S101F	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.S101F|MYPN_ENST00000540630.1_Missense_Mutation_p.S101F	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	101	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.S101Y(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAACGACTTTCTCCTGATCAG	0.448																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000138347						50.0	49.0	50.0					10																	69881497		2203	4300	6503	MYPN	SO:0001583	missense	0			-	HGNC	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.302C>T	10.37:g.69881497C>T	ENSP00000351790:p.Ser101Phe	Somatic	0	57	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	14	58.82	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S101F	ENST00000358913.5	37	c.302	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976348	0.53720	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.63744	0.37;0.35;-0.06	5.76	5.76	0.90799	.	0.236333	0.44483	D	0.000445	T	0.73385	0.3580	L	0.56769	1.78	0.44188	D	0.997003	D;B	0.59767	0.986;0.294	P;B	0.57152	0.814;0.057	T	0.70757	-0.4785	9	.	.	.	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	101;101	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	F	101	ENSP00000351790:S101F;ENSP00000441668:S101F;ENSP00000362779:S101F	.	S	+	2	0	MYPN	69551503	0.949000	0.32298	1.000000	0.80357	0.956000	0.61745	1.687000	0.37680	2.713000	0.92767	0.655000	0.94253	TCT	-	NULL		0.448	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	protein_coding	OTTHUMT00000048307.1	C	NM_032578	-		69881497	+1	no_errors	ENST00000358913	ensembl	human	known	74_37	missense	SNP	0.998	T
HS3ST5	222537	genome.wustl.edu	37	6	114383953	114383953	+	Silent	SNP	A	A	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr6:114383953A>T	ENST00000312719.5	-	4	1245	c.57T>A	c.(55-57)ctT>ctA	p.L19L	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L19L			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	19					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCCCAACGGCAAGGCTTCCCA	0.527																																																	0								ENSG00000249853						140.0	137.0	138.0					6																	114383953		2203	4300	6503	HS3ST5	SO:0001819	synonymous_variant	0			-	HGNC	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.57T>A	6.37:g.114383953A>T		Somatic	0	50	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	50	37.50	A8K1J2|Q52LI2|Q8N285	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L19	ENST00000312719.5	37	c.57	CCDS34517.1	6																																																																																			-	NULL		0.527	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	protein_coding	OTTHUMT00000041911.2	A	NM_153612	-		114383953	-1	no_errors	ENST00000312719	ensembl	human	known	74_37	silent	SNP	1.000	T
BOD1L1	259282	genome.wustl.edu	37	4	13588097	13588097	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:13588097C>T	ENST00000040738.5	-	17	8491	c.8356G>A	c.(8356-8358)Gat>Aat	p.D2786N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2786						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTGGATTATCATCTGTAAAT	0.353																																																	0								ENSG00000038219						79.0	75.0	76.0					4																	13588097		2203	4300	6503	BOD1L1	SO:0001583	missense	0			-	HGNC	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8356G>A	4.37:g.13588097C>T	ENSP00000040738:p.Asp2786Asn	Somatic	0	51	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	44	38.89	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.D2786N	ENST00000040738.5	37	c.8356	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581079	0.65992	.	.	ENSG00000038219	ENST00000040738	T	0.07216	3.21	5.35	4.49	0.54785	.	0.491635	0.19410	N	0.114949	T	0.05914	0.0154	N	0.19112	0.55	0.24171	N	0.995624	B	0.20550	0.046	B	0.18263	0.021	T	0.19289	-1.0310	10	0.72032	D	0.01	-9.833	8.1364	0.31056	0.0:0.8385:0.0:0.1615	.	2786	Q8NFC6	BOD1L_HUMAN	N	2786	ENSP00000040738:D2786N	ENSP00000040738:D2786N	D	-	1	0	BOD1L	13197195	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.827000	0.39102	2.780000	0.95670	0.650000	0.86243	GAT	-	NULL		0.353	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	protein_coding	OTTHUMT00000207321.1	C	NM_148894	-		13588097	-1	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	SNP	0.991	T
CYP21A2	1589	genome.wustl.edu	37	6	32008845	32008845	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr6:32008845G>A	ENST00000418967.2	+	10	1580	c.1422G>A	c.(1420-1422)atG>atA	p.M474I	CYP21A2_ENST00000435122.2_Missense_Mutation_p.M444I	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	473					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	TCCTCAAGATGCAGCCTTTCC	0.697																																					Melanoma(174;1669 1998 3915 34700 46447)												0								ENSG00000231852						7.0	7.0	7.0					6																	32008845		1264	2434	3698	CYP21A2	SO:0001583	missense	0			-	HGNC	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1422G>A	6.37:g.32008845G>A	ENSP00000408860:p.Met474Ile	Somatic	0	32	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.M474I	ENST00000418967.2	37	c.1422	CCDS4735.1	6	.	.	.	.	.	.	.	.	.	.	g	2.495	-0.316623	0.05422	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	T;T	0.78924	-1.22;-1.22	5.44	-4.46	0.03536	.	1.031490	0.07677	N	0.936495	T	0.21718	0.0523	N	0.02315	-0.6	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.003	T	0.11767	-1.0574	10	0.17369	T	0.5	.	4.1678	0.10315	0.0755:0.3141:0.1665:0.4439	.	444;474	Q5ST44;Q16874	.;.	I	474;444	ENSP00000408860:M474I;ENSP00000415043:M444I	ENSP00000408860:M474I	M	+	3	0	CYP21A2	32116824	0.000000	0.05858	0.007000	0.13788	0.035000	0.12851	-0.217000	0.09253	-0.450000	0.07107	-0.871000	0.02989	ATG	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.697	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	protein_coding	OTTHUMT00000268768.2	G	NM_000500	-		32008845	+1	no_errors	ENST00000418967	ensembl	human	known	74_37	missense	SNP	0.000	A
ARPP21	10777	genome.wustl.edu	37	3	35835202	35835202	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr3:35835202A>T	ENST00000187397.4	+	20	2647	c.2191A>T	c.(2191-2193)Acc>Tcc	p.T731S	ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000417925.1_Missense_Mutation_p.T732S|ARPP21_ENST00000444190.1_Missense_Mutation_p.T712S|ARPP21_ENST00000337271.5_Missense_Mutation_p.T712S|ARPP21_ENST00000458225.1_Missense_Mutation_p.T732S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	731	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGTGCCAATGACCCAGGGTTC	0.458																																																	0								ENSG00000172995						71.0	73.0	72.0					3																	35835202		2203	4300	6503	ARPP21	SO:0001583	missense	0			-	HGNC	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2191A>T	3.37:g.35835202A>T	ENSP00000187397:p.Thr731Ser	Somatic	0	106	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	88	32.33	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.T732S	ENST00000187397.4	37	c.2194	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945957	0.34377	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.22743	1.94;1.95;1.95;1.94;1.94	6.03	4.83	0.62350	.	0.079177	0.53938	D	0.000048	T	0.28366	0.0701	L	0.51422	1.61	0.28392	N	0.91906	P;D;P;P	0.56968	0.783;0.978;0.677;0.94	P;P;B;P	0.53954	0.461;0.738;0.254;0.616	T	0.07252	-1.0782	10	0.15066	T	0.55	-19.7288	12.2373	0.54522	0.7336:0.2664:0.0:0.0	.	732;254;731;712	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	S	732;712;712;731;732	ENSP00000414351:T732S;ENSP00000337792:T712S;ENSP00000405276:T712S;ENSP00000187397:T731S;ENSP00000412326:T732S	ENSP00000187397:T731S	T	+	1	0	ARPP21	35810206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.084000	0.50143	2.302000	0.77476	0.533000	0.62120	ACC	-	NULL		0.458	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	protein_coding	OTTHUMT00000253334.2	A	NM_198399	-		35835202	+1	no_errors	ENST00000417925	ensembl	human	known	74_37	missense	SNP	1.000	T
TCHHL1	126637	genome.wustl.edu	37	1	152057569	152057569	+	Silent	SNP	A	A	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:152057569A>G	ENST00000368806.1	-	3	2653	c.2589T>C	c.(2587-2589)ctT>ctC	p.L863L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	863							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATCAAGTGGAAGTCCCCTGG	0.507																																																	0								ENSG00000182898						167.0	155.0	159.0					1																	152057569		2203	4300	6503	TCHHL1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2589T>C	1.37:g.152057569A>G		Somatic	0	126	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	87	30.40	B2RPK8|Q5VTJ9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_S100_Ca-bd_sub	p.L863	ENST00000368806.1	37	c.2589	CCDS30857.1	1																																																																																			-	NULL		0.507	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	protein_coding	OTTHUMT00000036638.2	A	XM_060104	-		152057569	-1	no_errors	ENST00000368806	ensembl	human	known	74_37	silent	SNP	0.002	G
HHLA1	10086	genome.wustl.edu	37	8	133100132	133100132	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr8:133100132T>A	ENST00000414222.1	-	8	548	c.549A>T	c.(547-549)gaA>gaT	p.E183D	OC90_ENST00000262283.5_5'Flank|HHLA1_ENST00000434736.2_Missense_Mutation_p.E219D	NM_001145095.1	NP_001138567.1	C9JL84	HHLA1_HUMAN	HERV-H LTR-associating 1	183						extracellular region (GO:0005576)				endometrium(6)|kidney(1)|lung(2)|skin(1)|stomach(2)	12						TGCAATCTGATTCATTGCTTT	0.373																																																	0								ENSG00000132297						205.0	178.0	186.0					8																	133100132		692	1591	2283	HHLA1	SO:0001583	missense	0			-	HGNC	AF110315		8q24	2011-03-01			ENSG00000132297	ENSG00000132297			4904	protein-coding gene	gene with protein product		604109		PLA2L		10329003	Standard	NM_001145095		Approved		uc011liy.1	C9JL84	OTTHUMG00000140390	ENST00000414222.1:c.549A>T	8.37:g.133100132T>A	ENSP00000388322:p.Glu183Asp	Somatic	0	56	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	34	39.29		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.E183D	ENST00000414222.1	37	c.549		8	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590653	0.46214	.	.	ENSG00000132297	ENST00000414222;ENST00000434736	.	.	.	5.73	-0.147	0.13428	.	.	.	.	.	T	0.26304	0.0642	L	0.34521	1.04	0.21020	N	0.9998	B	0.10296	0.003	B	0.08055	0.003	T	0.26189	-1.0110	8	0.56958	D	0.05	.	2.0723	0.03616	0.3048:0.0699:0.2077:0.4177	.	183	C9JL84	HHLA1_HUMAN	D	183;219	.	ENSP00000388322:E183D	E	-	3	2	HHLA1	133169314	0.128000	0.22383	0.253000	0.24343	0.868000	0.49771	0.011000	0.13264	0.062000	0.16340	0.528000	0.53228	GAA	-	NULL		0.373	HHLA1-201	KNOWN	basic|appris_principal	protein_coding	HHLA1	protein_coding		T	XR_017860	-		133100132	-1	no_errors	ENST00000414222	ensembl	human	known	74_37	missense	SNP	0.638	A
CTBP1-AS2	92070	genome.wustl.edu	37	4	1246223	1246223	+	RNA	SNP	A	A	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:1246223A>T	ENST00000507044.1	+	0	1478				CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000505364.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000581398.1_RNA					CTBP1 antisense RNA 2 (head to head)																		TTTTTTAACAATAAAATGACC	0.353																																																	0								ENSG00000196810																																			CTBP1-AS2			0			-	HGNC	AK056133		4p16.3	2013-06-14	2013-06-14	2013-06-14	ENSG00000196810	ENSG00000196810		"""Long non-coding RNAs"""	28307	non-coding RNA	RNA, long non-coding			"""chromosome 4 open reading frame 42"", ""CTBP1 antisense RNA 1 (head to head)"""	C4orf42, CTBP1-AS1		12477932	Standard	NR_033339		Approved	MGC21675	uc003gcz.3		OTTHUMG00000160166		4.37:g.1246223A>T		Somatic	0	48	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000507044.1	37	NULL		4																																																																																			-	-		0.353	CTBP1-AS2-001	KNOWN	basic|exp_conf	antisense	CTBP1-AS2	antisense	OTTHUMT00000359476.1	A	NR_033339	-		1246223	+1	no_errors	ENST00000581398	ensembl	human	known	74_37	rna	SNP	0.000	T
SNX13	23161	genome.wustl.edu	37	7	17861150	17861150	+	Silent	SNP	G	G	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr7:17861150G>A	ENST00000409389.1	-	18	2032	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	SNX13_ENST00000428135.3_Silent_p.H609H|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	620	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TGATTCTCATGTGGAAGTCAT	0.373																																																	0								ENSG00000071189						160.0	155.0	157.0					7																	17861150		1895	4108	6003	SNX13	SO:0001819	synonymous_variant	0			-	HGNC	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1860C>T	7.37:g.17861150G>A		Somatic	0	77	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	96	10.28	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.H609	ENST00000409389.1	37	c.1827		7																																																																																			-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.373	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	protein_coding	OTTHUMT00000327608.1	G	NM_015132	-		17861150	-1	no_errors	ENST00000428135	ensembl	human	known	74_37	silent	SNP	1.000	A
MAPK15	225689	genome.wustl.edu	37	8	144803216	144803216	+	Frame_Shift_Del	DEL	C	C	-	rs5895783		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr8:144803216delC	ENST00000338033.4	+	10	1083	c.964delC	c.(964-966)cccfs	p.P322fs	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	322					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGATGTGCGGCCCCGGGCACA	0.682																																																	0								ENSG00000181085						19.0	25.0	23.0					8																	144803216		2004	4167	6171	MAPK15	SO:0001589	frameshift_variant	0				HGNC	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.964delC	8.37:g.144803216delC	ENSP00000337691:p.Pro322fs	Somatic	0	15	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q2TCF9|Q8N362	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_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_dom	p.R323fs	ENST00000338033.4	37	c.964	CCDS6409.2	8																																																																																			-	superfamily_Kinase-like_dom		0.682	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	protein_coding	OTTHUMT00000300348.1	C	NM_139021			144803216	+1	no_errors	ENST00000338033	ensembl	human	known	74_37	frame_shift_del	DEL	0.223	-
ANKRD30BL	554226	genome.wustl.edu	37	2	132912272	132912272	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:132912272T>G	ENST00000409867.1	-	4	826	c.577A>C	c.(577-579)Aaa>Caa	p.K193Q	RNU6-1132P_ENST00000459214.1_RNA|ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	193										endometrium(1)|kidney(3)	4						TTTGCATTTTTTGTCAGTAAA	0.318																																																	0								ENSG00000163046																																			ANKRD30BL	SO:0001583	missense	0			-	HGNC			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.577A>C	2.37:g.132912272T>G	ENSP00000386398:p.Lys193Gln	Somatic	0	83	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	62	13.89	B8ZZL7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K193Q	ENST00000409867.1	37	c.577		2	.	.	.	.	.	.	.	.	.	.	.	11.00	1.510531	0.27036	.	.	ENSG00000163046	ENST00000409867	T	0.66460	-0.21	0.569	-1.14	0.09741	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.52793	-0.8528	5	0.56958	D	0.05	.	.	.	.	.	.	.	.	Q	193	ENSP00000386398:K193Q	ENSP00000295181:K193Q	K	-	1	0	ANKRD30BL	132628742	0.001000	0.12720	0.017000	0.16124	0.387000	0.30353	0.406000	0.21032	-0.574000	0.05990	0.155000	0.16302	AAA	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.318	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	ANKRD30BL	protein_coding	OTTHUMT00000331353.2	T	NR_027019	-		132912272	-1	no_errors	ENST00000295181	ensembl	human	known	74_37	missense	SNP	0.042	G
PALD1	27143	genome.wustl.edu	37	10	72291112	72291113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr10:72291112_72291113insC	ENST00000263563.6	+	5	803_804	c.535_536insC	c.(535-537)tccfs	p.S179fs		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	179						cytosol (GO:0005829)											GGACTTTGTGTCCTACACACCT	0.594																																																	0								ENSG00000107719																																			PALD1	SO:0001589	frameshift_variant	0				HGNC	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.537dupC	10.37:g.72291114_72291114dupC	ENSP00000263563:p.Ser179fs	Somatic	0	105	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	29	63.75	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	smart_Tyr_Pase_cat	p.Y180fs	ENST00000263563.6	37	c.535_536	CCDS31215.1	10																																																																																			-	NULL		0.594	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	protein_coding	OTTHUMT00000048515.2	-	NM_014431			72291113	+1	no_errors	ENST00000263563	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	C
OR1S2	219958	genome.wustl.edu	37	11	57971513	57971513	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:57971513C>G	ENST00000302592.6	-	1	140	c.141G>C	c.(139-141)atG>atC	p.M47I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGACCACATACATACTCAGGA	0.463																																																	0								ENSG00000197887						186.0	176.0	179.0					11																	57971513		2201	4296	6497	OR1S2	SO:0001583	missense	0			-	HGNC	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.141G>C	11.37:g.57971513C>G	ENSP00000305469:p.Met47Ile	Somatic	0	103	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	97	13.39	Q6IFG5|Q96R85	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M47I	ENST00000302592.6	37	c.141	CCDS31545.1	11	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776429	0.49786	.	.	ENSG00000197887	ENST00000302592	T	0.00421	7.46	4.25	4.25	0.50352	.	0.120652	0.38778	N	0.001567	T	0.00637	0.0021	L	0.33624	1.015	0.28941	N	0.890993	D	0.65815	0.995	D	0.75020	0.985	T	0.58498	-0.7626	10	0.62326	D	0.03	.	11.0541	0.47907	0.0:0.6971:0.3029:0.0	.	47	Q8NGQ3	OR1S2_HUMAN	I	47	ENSP00000305469:M47I	ENSP00000305469:M47I	M	-	3	0	OR1S2	57728089	0.002000	0.14202	1.000000	0.80357	0.729000	0.41735	-0.855000	0.04295	2.366000	0.80165	0.650000	0.86243	ATG	-	prints_GPCR_Rhodpsn		0.463	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S2	protein_coding	OTTHUMT00000394703.2	C	NM_001004459	-		57971513	-1	no_errors	ENST00000302592	ensembl	human	known	74_37	missense	SNP	0.997	G
IL36B	27177	genome.wustl.edu	37	2	113786528	113786528	+	Silent	SNP	A	A	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:113786528A>G	ENST00000259213.4	-	4	356	c.249T>C	c.(247-249)acT>acC	p.T83T	IL36B_ENST00000327407.2_Silent_p.T83T	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	83					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						TAAGCTGCAAAGTAGGCTTGC	0.378																																																	0								ENSG00000136696						168.0	145.0	153.0					2																	113786528		2203	4300	6503	IL36B	SO:0001819	synonymous_variant	0			-	HGNC	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.249T>C	2.37:g.113786528A>G		Somatic	0	73	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	39	53.01	Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_Cytokine_IL1-like	p.T83	ENST00000259213.4	37	c.249	CCDS2109.1	2																																																																																			-	superfamily_Cytokine_IL1-like		0.378	IL36B-001	KNOWN	basic|CCDS	protein_coding	IL36B	protein_coding	OTTHUMT00000254110.1	A	NM_014438	-		113786528	-1	no_errors	ENST00000259213	ensembl	human	known	74_37	silent	SNP	0.001	G
SLC9A9	285195	genome.wustl.edu	37	3	143551065	143551066	+	Splice_Site	INS	-	-	A	rs373202846|rs537840717	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr3:143551065_143551066insA	ENST00000316549.6	-	2	384		c.e2-2			NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9						ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTATAAGGCCTAAAAAAAAAAG	0.347																																																	0								ENSG00000181804																																			SLC9A9	SO:0001630	splice_region_variant	0				HGNC	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.176-2->T	3.37:g.143551075_143551075dupA		Somatic	0	27	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Splice_Site	INS	NA	NA	NA	NA	NA	NA	-	e2-2	ENST00000316549.6	37	c.176-3_176-2	CCDS33872.1	3																																																																																			-	-		0.347	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	protein_coding	OTTHUMT00000354994.1	-	NM_173653		Intron	143551066	-1	no_errors	ENST00000316549	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.997	A
UBE2K	3093	genome.wustl.edu	37	4	39780194	39780194	+	3'UTR	DEL	A	A	-			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:39780194delA	ENST00000261427.5	+	0	1027				UBE2K_ENST00000503368.1_3'UTR|UBE2K_ENST00000295963.6_3'UTR|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000445950.2_3'UTR	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K						intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						TTGGAGACTGAAAAAAAAAAA	0.299																																					NSCLC(101;689 1592 16105 29682 31745)												0								ENSG00000078140																																			UBE2K	SO:0001624	3_prime_UTR_variant	0				HGNC	U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"""Ubiquitin-conjugating enzymes E2"""	4914	protein-coding gene	gene with protein product		602846	"""huntingtin interacting protein 2"", ""ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"""	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.*140A>-	4.37:g.39780194delA		Somatic	0	51	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	48	12.73	A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000261427.5	37	NULL	CCDS33976.1	4																																																																																			-	-		0.299	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2K	protein_coding	OTTHUMT00000361061.1	A	NM_005339			39780194	+1	no_errors	ENST00000438068	ensembl	human	known	74_37	rna	DEL	0.844	-
KIAA1257	57501	genome.wustl.edu	37	3	128664475	128664475	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr3:128664475G>A	ENST00000508239.1	-	3	481	c.335C>T	c.(334-336)gCc>gTc	p.A112V	KIAA1257_ENST00000511438.1_Intron																							ACTGACCTGGGCGATGCCATA	0.552																																																	0								ENSG00000187695																																			RP11-723O4.6	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000508239.1:c.335C>T	3.37:g.128664475G>A	ENSP00000424951:p.Ala112Val	Somatic	0	37	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	23	34.29		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A112V	ENST00000508239.1	37	c.335		3	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847164	0.71603	.	.	ENSG00000187695	ENST00000508239;ENST00000344062;ENST00000511204	D;D	0.91237	-2.81;-2.81	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.95303	0.8476	M	0.77820	2.39	0.44316	D	0.997195	D	0.89917	1.0	D	0.91635	0.999	D	0.95504	0.8580	10	0.87932	D	0	-30.3571	17.2531	0.87048	0.0:0.0:1.0:0.0	.	112	Q6ZUG5	YC006_HUMAN	V	112	ENSP00000424951:A112V;ENSP00000422463:A112V	ENSP00000342380:A112V	A	-	2	0	RP11-723O4.6	130147165	1.000000	0.71417	0.276000	0.24689	0.387000	0.30353	8.191000	0.89716	2.678000	0.91216	0.305000	0.20034	GCC	-	NULL		0.552	RP11-723O4.6-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	ENSG00000187695	protein_coding	OTTHUMT00000369697.1	G		-		128664475	-1	no_errors	ENST00000508239	ensembl	human	known	74_37	missense	SNP	0.979	A
ECT2	1894	genome.wustl.edu	37	3	172480561	172480561	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr3:172480561G>C	ENST00000392692.3	+	10	1146	c.970G>C	c.(970-972)Gaa>Caa	p.E324Q	ECT2_ENST00000232458.5_Missense_Mutation_p.E293Q|ECT2_ENST00000427830.1_Missense_Mutation_p.E293Q|ECT2_ENST00000441497.2_Missense_Mutation_p.E293Q|ECT2_ENST00000540509.1_Missense_Mutation_p.E324Q|ECT2_ENST00000417960.1_Missense_Mutation_p.E292Q	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	324	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCTTCCCTTTGAACCTTCAAA	0.323																																																	0								ENSG00000114346						92.0	94.0	93.0					3																	172480561		2203	4298	6501	ECT2	SO:0001583	missense	0			-	HGNC	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.970G>C	3.37:g.172480561G>C	ENSP00000376457:p.Glu324Gln	Somatic	0	55	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	55	11.29	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.E293Q	ENST00000392692.3	37	c.877	CCDS58860.1	3	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563633	0.27915	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.84	5.84	0.93424	BRCT (1);	0.224065	0.47852	D	0.000212	T	0.71600	0.3359	L	0.33485	1.01	0.46478	D	0.999062	B;B;B;B	0.25609	0.032;0.13;0.032;0.108	B;B;B;B	0.29524	0.041;0.103;0.064;0.089	T	0.64816	-0.6318	10	0.19590	T	0.45	-23.2438	20.1294	0.97995	0.0:0.0:1.0:0.0	.	324;324;293;292	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	Q	293;324;293;292;293;324	ENSP00000232458:E293Q;ENSP00000376457:E324Q;ENSP00000401910:E293Q;ENSP00000415876:E292Q;ENSP00000412259:E293Q;ENSP00000443160:E324Q	ENSP00000232458:E293Q	E	+	1	0	ECT2	173963255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.389000	0.66255	2.758000	0.94735	0.591000	0.81541	GAA	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.323	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	protein_coding	OTTHUMT00000345994.2	G	NM_018098	-		172480561	+1	no_errors	ENST00000427830	ensembl	human	known	74_37	missense	SNP	1.000	C
MASP2	10747	genome.wustl.edu	37	1	11087529	11087529	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:11087529C>A	ENST00000400897.3	-	11	1489	c.1474G>T	c.(1474-1476)Gca>Tca	p.A492S	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	492	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGGGCGGATGCATCATGTTTT	0.453																																					GBM(35;611 746 20780 22741 36496)												0								ENSG00000009724						180.0	170.0	173.0					1																	11087529		2203	4300	6503	MASP2	SO:0001583	missense	0			-	HGNC	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1474G>T	1.37:g.11087529C>A	ENSP00000383690:p.Ala492Ser	Somatic	0	81	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	64	32.63	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A492S	ENST00000400897.3	37	c.1474	CCDS123.1	1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.865749	0.00547	.	.	ENSG00000009724	ENST00000400897	D	0.88975	-2.45	5.16	0.897	0.19258	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.909542	0.09426	N	0.803672	T	0.74068	0.3668	N	0.11255	0.115	0.09310	N	0.999998	B	0.09022	0.002	B	0.12837	0.008	T	0.59026	-0.7531	10	0.14252	T	0.57	.	5.3733	0.16152	0.1022:0.5926:0.1482:0.157	.	492	O00187	MASP2_HUMAN	S	492	ENSP00000383690:A492S	ENSP00000383690:A492S	A	-	1	0	MASP2	11010116	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.050000	0.14120	0.532000	0.28657	0.563000	0.77884	GCA	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.453	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP2	protein_coding	OTTHUMT00000006072.1	C	NM_006610	-		11087529	-1	no_errors	ENST00000400897	ensembl	human	known	74_37	missense	SNP	0.000	A
DNAJC8	22826	genome.wustl.edu	37	1	28534923	28534923	+	Splice_Site	SNP	A	A	C			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:28534923A>C	ENST00000263697.4	-	6	427	c.401T>G	c.(400-402)gTg>gGg	p.V134G	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	134					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTTTCACCTAAAAAGA	0.358																																																	0								ENSG00000126698						81.0	69.0	73.0					1																	28534923		1824	4086	5910	DNAJC8	SO:0001630	splice_region_variant	0			-	HGNC	AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.400-1T>G	1.37:g.28534923A>C		Somatic	0	52	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	32	36.00	B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.V134G	ENST00000263697.4	37	c.401	CCDS41292.1	1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037384	0.54896	.	.	ENSG00000126698	ENST00000263697	T	0.64803	-0.12	5.92	5.92	0.95590	.	0.114747	0.64402	D	0.000015	T	0.54382	0.1855	L	0.44542	1.39	0.80722	D	1	B	0.24092	0.097	B	0.30029	0.11	T	0.54860	-0.8230	10	0.49607	T	0.09	-3.91	8.6592	0.34081	0.8583:0.0:0.1417:0.0	.	134	O75937	DNJC8_HUMAN	G	134	ENSP00000263697:V134G	ENSP00000263697:V134G	V	-	2	0	DNAJC8	28407510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.517000	0.67061	2.266000	0.75297	0.455000	0.32223	GTG	-	NULL		0.358	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC8	protein_coding	OTTHUMT00000009860.1	A	NM_014280	-	Missense_Mutation	28534923	-1	no_errors	ENST00000263697	ensembl	human	known	74_37	missense	SNP	1.000	C
C11orf97	643037	genome.wustl.edu	37	11	94265072	94265072	+	lincRNA	SNP	A	A	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:94265072A>T	ENST00000542198.1	+	0	335																											GATAAGATGAATTAGATTTTC	0.318																																																	0								ENSG00000257057																																			RP11-867G2.2			0			-	Clone_based_vega_gene																													11.37:g.94265072A>T		Somatic	0	52	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	28	44.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000542198.1	37	NULL		11																																																																																			-	-		0.318	RP11-867G2.2-001	KNOWN	basic	lincRNA	ENSG00000257057	lincRNA	OTTHUMT00000396326.1	A		-		94265072	+1	no_errors	ENST00000542198	ensembl	human	known	74_37	rna	SNP	0.790	T
ZCCHC3	85364	genome.wustl.edu	37	20	279424	279424	+	Silent	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr20:279424C>T	ENST00000382352.3	+	1	1688	c.1197C>T	c.(1195-1197)acC>acT	p.T399T		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	399							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTCAGCTAACCGGCGTGGCCG	0.542																																																	0								ENSG00000177764						22.0	24.0	23.0					20																	279424		2011	4179	6190	ZCCHC3	SO:0001819	synonymous_variant	0			-	HGNC	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.1197C>T	20.37:g.279424C>T		Somatic	0	27	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	18	51.35	Q3B7J3|Q6NT79	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.T399	ENST00000382352.3	37	c.1197	CCDS42844.1	20																																																																																			-	NULL		0.542	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC3	protein_coding	OTTHUMT00000077447.1	C		-		279424	+1	no_errors	ENST00000382352	ensembl	human	known	74_37	silent	SNP	0.926	T
FRMD4B	23150	genome.wustl.edu	37	3	69299250	69299250	+	Splice_Site	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr3:69299250C>T	ENST00000398540.3	-	6	585	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	FRMD4B_ENST00000542259.1_Splice_Site_p.G114R	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	168	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TCGATTTGCCCCTGTTGATGG	0.458																																																	0								ENSG00000114541						257.0	248.0	251.0					3																	69299250		1944	4140	6084	FRMD4B	SO:0001630	splice_region_variant	0			-	HGNC	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.502-1G>A	3.37:g.69299250C>T		Somatic	0	99	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	74	24.49	Q8TAI3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.G168R	ENST00000398540.3	37	c.502	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648224	0.67358	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000493880;ENST00000473029;ENST00000460709	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.33	5.33	0.75918	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.114804	0.64402	D	0.000016	D	0.89543	0.6745	M	0.78049	2.395	0.49798	D	0.999828	D;D	0.89917	1.0;0.966	D;P	0.97110	1.0;0.889	D	0.90037	0.4139	10	0.59425	D	0.04	-20.9889	16.2906	0.82750	0.0:1.0:0.0:0.0	.	12;168	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	R	168;114;59;114;114	ENSP00000381549:G168R;ENSP00000437658:G114R;ENSP00000418962:G59R;ENSP00000418373:G114R;ENSP00000418023:G114R	ENSP00000381549:G168R	G	-	1	0	FRMD4B	69381940	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	4.570000	0.60872	2.657000	0.90304	0.591000	0.81541	GGG	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.458	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	protein_coding	OTTHUMT00000352111.1	C		-	Missense_Mutation	69299250	-1	no_errors	ENST00000398540	ensembl	human	known	74_37	missense	SNP	1.000	T
PRB3	5544	genome.wustl.edu	37	12	11420653	11420653	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr12:11420653G>A	ENST00000279573.7	-	3	665	c.530C>T	c.(529-531)cCg>cTg	p.P177L	PRB3_ENST00000381842.3_Missense_Mutation_p.P177L|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.P156L			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	177	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CGGATGAGGCGGGGGACCTTG	0.642																																																	0								ENSG00000197870						130.0	164.0	153.0					12																	11420653		1854	4086	5940	PRB3	SO:0001583	missense	0			-	HGNC			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.530C>T	12.37:g.11420653G>A	ENSP00000279573:p.Pro177Leu	Somatic	0	92	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	55	32.10	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P177L	ENST00000279573.7	37	c.530		12	.	.	.	.	.	.	.	.	.	.	.	4.080	0.012774	0.07912	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.18502	2.21;2.21	0.684	-1.37	0.09056	.	0.000000	0.35772	U	0.002998	T	0.06096	0.0158	.	.	.	0.09310	N	1	P	0.44478	0.836	B	0.27076	0.076	T	0.37502	-0.9703	9	0.37606	T	0.19	.	3.7165	0.08439	0.2006:0.2512:0.5482:0.0	.	177	Q04118	PRB3_HUMAN	L	177;156	ENSP00000371264:P177L;ENSP00000442626:P156L	ENSP00000279573:P177L	P	-	2	0	PRB3	11311920	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.276000	0.08514	-0.831000	0.04256	-1.725000	0.00704	CCG	-	NULL		0.642	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	protein_coding	OTTHUMT00000402119.5	G	NM_006249	-		11420653	-1	no_errors	ENST00000381842	ensembl	human	known	74_37	missense	SNP	0.000	A
SCN4B	6330	genome.wustl.edu	37	11	118006807	118006808	+	3'UTR	INS	-	-	GGGGGAGAAGC	rs144216378|rs397753873|rs59423170	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:118006807_118006808insGGGGGAGAAGC	ENST00000324727.4	-	0	1767_1768				SCN4B_ENST00000423160.2_5'UTR	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit						AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCAGGTAGGAGGGGGAGAAGC	0.683														1426	0.284744	0.2837	0.3343	5008	,	,		13940	0.2599		0.3588	False		,,,				2504	0.2004																0								ENSG00000177098																																			SCN4B	SO:0001624	3_prime_UTR_variant	0				HGNC	AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.*935->GCTTCTCCCCC	11.37:g.118006808_118006818dupGGGGGAGAAGC		Somatic	NA	NA	NA		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	E9PPT5|Q6PIG5	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000324727.4	37	NULL	CCDS8389.1	11																																																																																			-	-		0.683	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN4B	protein_coding	OTTHUMT00000392326.1	-				118006808	-1	no_errors	ENST00000423160	ensembl	human	known	74_37	rna	INS	0.000:0.000	GGGGGAGAAGC
TTN	7273	genome.wustl.edu	37	2	179451905	179451905	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:179451905C>T	ENST00000591111.1	-	257	59334	c.59110G>A	c.(59110-59112)Gaa>Aaa	p.E19704K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18777K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12280K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12405K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12472K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E21345K			Q8WZ42	TITIN_HUMAN	titin	19704	Fibronectin type-III 42. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCCATATTCGTTGACAGCA	0.453																																																	0								ENSG00000155657						194.0	196.0	195.0					2																	179451905		1952	4134	6086	TTN	SO:0001583	missense	0			-	HGNC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59110G>A	2.37:g.179451905C>T	ENSP00000465570:p.Glu19704Lys	Somatic	0	60	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	42	19.23	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E18777K	ENST00000591111.1	37	c.56329		2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516644	0.85495	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35364	0.0929	N	0.04959	-0.14	0.58432	D	0.999999	B;B;B;B	0.34147	0.438;0.438;0.438;0.438	B;B;B;B	0.27887	0.084;0.084;0.084;0.084	T	0.39860	-0.9593	9	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	12280;12405;12472;19704	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	18777;12280;12472;12405;12278	ENSP00000343764:E18777K;ENSP00000434586:E12280K;ENSP00000340554:E12472K;ENSP00000352154:E12405K	ENSP00000340554:E12472K	E	-	1	0	TTN	179160151	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.787000	0.55439	2.835000	0.97688	0.650000	0.86243	GAA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179451905	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	T
OR8A1	390275	genome.wustl.edu	37	11	124440623	124440623	+	Missense_Mutation	SNP	G	G	C	rs188075743		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:124440623G>C	ENST00000284287.3	+	1	731	c.659G>C	c.(658-660)gGa>gCa	p.G220A		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	220					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TTTTCGGCTGGATTCAACATC	0.483																																																	0								ENSG00000196119						120.0	115.0	117.0					11																	124440623		2201	4299	6500	OR8A1	SO:0001583	missense	0			-	HGNC	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.659G>C	11.37:g.124440623G>C	ENSP00000284287:p.Gly220Ala	Somatic	0	50	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	14	54.84	Q6IEW7|Q96RC6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G220A	ENST00000284287.3	37	c.659	CCDS31712.1	11	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918691	0.33908	.	.	ENSG00000196119	ENST00000284287	T	0.36878	1.23	5.03	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000340	T	0.40297	0.1111	L	0.35542	1.07	0.09310	N	1	P	0.47545	0.897	P	0.61874	0.895	T	0.07927	-1.0747	10	0.32370	T	0.25	.	7.4881	0.27445	0.08:0.0:0.4175:0.5025	.	220	Q8NGG7	OR8A1_HUMAN	A	220	ENSP00000284287:G220A	ENSP00000284287:G220A	G	+	2	0	OR8A1	123945833	0.000000	0.05858	1.000000	0.80357	0.659000	0.38960	0.189000	0.17037	1.308000	0.44962	0.650000	0.86243	GGA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8A1	protein_coding	OTTHUMT00000387062.1	G	NM_001005194	-		124440623	+1	no_errors	ENST00000284287	ensembl	human	known	74_37	missense	SNP	0.009	C
BCL11A	53335	genome.wustl.edu	37	2	60687304	60687304	+	3'UTR	SNP	A	A	G	rs35238724|rs397872300		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:60687304A>G	ENST00000335712.6	-	0	2970				BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)						B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AACATaaaggaaaaaaaaaaa	0.328			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0								ENSG00000119866																																			BCL11A	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.*235T>C	2.37:g.60687304A>G		Somatic	0	32	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	17.50	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000335712.6	37	NULL	CCDS1862.1	2																																																																																			-	-		0.328	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	protein_coding	OTTHUMT00000251579.2	A	NM_022893	-		60687304	-1	no_errors	ENST00000477659	ensembl	human	known	74_37	rna	SNP	0.436	G
SLC7A4	6545	genome.wustl.edu	37	22	21385529	21385529	+	Silent	SNP	G	G	C			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr22:21385529G>C	ENST00000382932.2	-	2	640	c.573C>G	c.(571-573)tcC>tcG	p.S191S	SLC7A4_ENST00000403586.1_Silent_p.S191S|MIR649_ENST00000384843.1_RNA|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	191				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263). {ECO:0000305}.	basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAGCCAGGAGGACACGCGGG	0.607																																																	0								ENSG00000099960						61.0	58.0	59.0					22																	21385529		2203	4300	6503	SLC7A4	SO:0001819	synonymous_variant	0			-	HGNC	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.573C>G	22.37:g.21385529G>C		Somatic	0	34	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	5	88.64	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.S191	ENST00000382932.2	37	c.573	CCDS33608.1	22																																																																																			-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1		0.607	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A4	protein_coding	OTTHUMT00000320467.1	G	NM_004173	-		21385529	-1	no_errors	ENST00000382932	ensembl	human	known	74_37	silent	SNP	0.957	C
EPHA7	2045	genome.wustl.edu	37	6	93964481	93964481	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr6:93964481C>T	ENST00000369303.4	-	14	2600	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	806	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGGATGGCTTCGGGTGCTGTC	0.368																																																	0								ENSG00000135333						113.0	97.0	103.0					6																	93964481		2203	4300	6503	EPHA7	SO:0001583	missense	0			-	HGNC	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2416G>A	6.37:g.93964481C>T	ENSP00000358309:p.Glu806Lys	Somatic	0	37	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	35	25.53	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E806K	ENST00000369303.4	37	c.2416	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.678301	0.96764	.	.	ENSG00000135333	ENST00000369303	D	0.84370	-1.84	5.39	5.39	0.77823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.103813	0.64402	D	0.000005	D	0.95705	0.8603	H	0.98487	4.245	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.986;1.0;1.0	D	0.97370	0.9975	10	0.87932	D	0	.	19.1563	0.93511	0.0:1.0:0.0:0.0	.	802;801;806	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	K	806	ENSP00000358309:E806K	ENSP00000358309:E806K	E	-	1	0	EPHA7	94021202	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.715000	0.84713	2.542000	0.85734	0.655000	0.94253	GAA	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.368	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	protein_coding	OTTHUMT00000041545.1	C		-		93964481	-1	no_errors	ENST00000369303	ensembl	human	known	74_37	missense	SNP	1.000	T
LOC285556	285556	genome.wustl.edu	37	4	100572534	100572534	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:100572534T>G	ENST00000511828.1	-	1	3271	c.3272A>C	c.(3271-3273)gAc>gCc	p.D1091A																								GTCTCTGATGTCTCTCACCTG	0.522																																																	0								ENSG00000248713																																			RP11-766F14.2	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000511828.1:c.3272A>C	4.37:g.100572534T>G	ENSP00000427555:p.Asp1091Ala	Somatic	0	66	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	49	38.75		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.D1091A	ENST00000511828.1	37	c.3272		4	.	.	.	.	.	.	.	.	.	.	T	18.45	3.625705	0.66901	.	.	ENSG00000248713	ENST00000511828	T	0.56275	0.47	4.13	4.13	0.48395	.	.	.	.	.	T	0.52500	0.1738	L	0.32530	0.975	.	.	.	.	.	.	.	.	.	T	0.67719	-0.5598	6	0.87932	D	0	.	13.2843	0.60235	0.0:0.0:0.0:1.0	.	.	.	.	A	1091	ENSP00000427555:D1091A	ENSP00000427555:D1091A	D	-	2	0	RP11-766F14.2	100791557	1.000000	0.71417	0.892000	0.35008	0.691000	0.40173	7.038000	0.76537	1.864000	0.54056	0.459000	0.35465	GAC	-	NULL		0.522	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	protein_coding	OTTHUMT00000365456.1	T		-		100572534	-1	no_errors	ENST00000511828	ensembl	human	putative	74_37	missense	SNP	0.997	G
FAM129A	116496	genome.wustl.edu	37	1	184859248	184859248	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:184859248G>A	ENST00000367511.3	-	4	620	c.427C>T	c.(427-429)Cct>Tct	p.P143S		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	143					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCACCAAGAGGGTCTGGGAAA	0.458																																																	0								ENSG00000135842						89.0	86.0	87.0					1																	184859248		2203	4300	6503	FAM129A	SO:0001583	missense	0			-	HGNC	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.427C>T	1.37:g.184859248G>A	ENSP00000356481:p.Pro143Ser	Somatic	0	47	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	19	47.22	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P143S	ENST00000367511.3	37	c.427	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344569	0.82022	.	.	ENSG00000135842	ENST00000367511	T	0.15718	2.4	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000020	T	0.36496	0.0969	M	0.62723	1.935	0.51233	D	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.04128	-1.0975	10	0.12766	T	0.61	-16.3166	15.358	0.74443	0.0:0.0:1.0:0.0	.	143	Q9BZQ8	NIBAN_HUMAN	S	143	ENSP00000356481:P143S	ENSP00000356481:P143S	P	-	1	0	FAM129A	183125871	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.784000	0.68990	2.687000	0.91594	0.655000	0.94253	CCT	-	NULL		0.458	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	protein_coding	OTTHUMT00000085786.1	G		-		184859248	-1	no_errors	ENST00000367511	ensembl	human	known	74_37	missense	SNP	1.000	A
SRRT	51593	genome.wustl.edu	37	7	100478923	100478923	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr7:100478923G>A	ENST00000347433.4	+	3	298	c.140G>A	c.(139-141)cGt>cAt	p.R47H	SRRT_ENST00000457580.2_Missense_Mutation_p.R47H|SRRT_ENST00000388793.4_Missense_Mutation_p.R47H|SRRT_ENST00000432932.1_Missense_Mutation_p.R47H			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	47	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACCGTGGCCGTGAGCGCCGT	0.582																																																	0								ENSG00000087087						97.0	87.0	91.0					7																	100478923		2203	4300	6503	SRRT	SO:0001583	missense	0			-	HGNC		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.140G>A	7.37:g.100478923G>A	ENSP00000314491:p.Arg47His	Somatic	0	61	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	35	39.66	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Arsenite-R_2,pfam_DUF3546	p.R47H	ENST00000347433.4	37	c.140	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389419	0.61956	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000431645	.	.	.	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000001	T	0.67785	0.2930	L	0.51422	1.61	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.991;0.991;0.991;0.98	T	0.62086	-0.6928	9	0.14656	T	0.56	.	15.3558	0.74425	0.0:0.0:1.0:0.0	.	47;47;47;47	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	H	47;47;47;47;54	.	ENSP00000314491:R47H	R	+	2	0	SRRT	100316859	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	8.871000	0.92346	2.273000	0.75805	0.585000	0.79938	CGT	-	NULL		0.582	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	protein_coding	OTTHUMT00000347168.1	G	NM_015908	-		100478923	+1	no_errors	ENST00000388793	ensembl	human	known	74_37	missense	SNP	1.000	A
PRDM10	56980	genome.wustl.edu	37	11	129785666	129785666	+	Silent	SNP	G	G	A	rs145915939		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:129785666G>A	ENST00000360871.3	-	16	2646	c.2415C>T	c.(2413-2415)ccC>ccT	p.P805P	PRDM10_ENST00000423662.2_Silent_p.P723P|PRDM10_ENST00000304538.6_Silent_p.P719P|PRDM10_ENST00000526082.1_Silent_p.P723P|PRDM10_ENST00000358825.5_Silent_p.P809P|PRDM10_ENST00000528746.1_Silent_p.P779P	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	809					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAGGACCAGCGGGTCGGAGCT	0.597																																																	0								ENSG00000170325	G	,,,	0,4402		0,0,2201	127.0	123.0	125.0		2427,2415,2169,2157	-4.3	0.9	11	dbSNP_134	125	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRDM10	NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1	,,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,,	809/1161,805/1157,723/1062,719/1024	129785666	1,12995	2201	4297	6498	PRDM10	SO:0001819	synonymous_variant	0			-	HGNC	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2415C>T	11.37:g.129785666G>A		Somatic	0	69	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	8	76.32	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P809	ENST00000360871.3	37	c.2427	CCDS8484.1	11																																																																																			-	NULL		0.597	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	protein_coding	OTTHUMT00000386076.1	G	NM_199437	rs145915939		129785666	-1	no_errors	ENST00000358825	ensembl	human	known	74_37	silent	SNP	0.479	A
FAM129A	116496	genome.wustl.edu	37	1	184859249	184859249	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:184859249G>C	ENST00000367511.3	-	4	619	c.426C>G	c.(424-426)gaC>gaG	p.D142E		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	142					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CACCAAGAGGGTCTGGGAAAT	0.453																																																	0								ENSG00000135842						90.0	87.0	88.0					1																	184859249		2203	4300	6503	FAM129A	SO:0001583	missense	0			-	HGNC	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.426C>G	1.37:g.184859249G>C	ENSP00000356481:p.Asp142Glu	Somatic	0	47	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	19	48.65	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.D142E	ENST00000367511.3	37	c.426	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910893	0.72983	.	.	ENSG00000135842	ENST00000367511	T	0.16743	2.32	5.71	2.83	0.33086	.	0.048839	0.85682	D	0.000000	T	0.30665	0.0772	M	0.64997	1.995	0.40791	D	0.983259	D	0.89917	1.0	D	0.83275	0.996	T	0.19386	-1.0307	10	0.13470	T	0.59	-36.2116	8.0471	0.30555	0.2568:0.0:0.7432:0.0	.	142	Q9BZQ8	NIBAN_HUMAN	E	142	ENSP00000356481:D142E	ENSP00000356481:D142E	D	-	3	2	FAM129A	183125872	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.268000	0.18571	0.773000	0.33404	0.655000	0.94253	GAC	-	NULL		0.453	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	protein_coding	OTTHUMT00000085786.1	G		-		184859249	-1	no_errors	ENST00000367511	ensembl	human	known	74_37	missense	SNP	1.000	C
CHRNA9	55584	genome.wustl.edu	37	4	40339266	40339266	+	Missense_Mutation	SNP	C	C	T	rs534300891		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:40339266C>T	ENST00000310169.2	+	3	389	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	84					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TTTGTGGATCCGCCAAATCTG	0.478													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20936	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(115;1297 1602 22235 25158 43327)												0								ENSG00000174343						104.0	81.0	89.0					4																	40339266		2203	4300	6503	CHRNA9	SO:0001583	missense	0			-	HGNC	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.250C>T	4.37:g.40339266C>T	ENSP00000312663:p.Arg84Cys	Somatic	0	43	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	26	45.83	Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R84C	ENST00000310169.2	37	c.250	CCDS3459.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125138	0.77436	.	.	ENSG00000174343	ENST00000310169	T	0.80566	-1.39	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.046822	0.85682	D	0.000000	D	0.92163	0.7515	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92890	0.6330	10	0.87932	D	0	.	20.1175	0.97942	0.0:1.0:0.0:0.0	.	84	Q9UGM1	ACHA9_HUMAN	C	84	ENSP00000312663:R84C	ENSP00000312663:R84C	R	+	1	0	CHRNA9	40034023	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	2.817000	0.48034	2.771000	0.95319	0.591000	0.81541	CGC	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.478	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA9	protein_coding	OTTHUMT00000216822.1	C		-		40339266	+1	no_errors	ENST00000310169	ensembl	human	known	74_37	missense	SNP	1.000	T
GALNTL6	442117	genome.wustl.edu	37	4	173873290	173873290	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:173873290C>A	ENST00000506823.1	+	10	1909	c.1252C>A	c.(1252-1254)Cag>Aag	p.Q418K	GALNTL6_ENST00000508122.1_Missense_Mutation_p.Q401K	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	418					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CATCTCTGCCCAGAAGGAGCT	0.582																																																	0								ENSG00000174473						58.0	60.0	59.0					4																	173873290		2203	4300	6503	GALNTL6	SO:0001583	missense	0			-	HGNC		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1252C>A	4.37:g.173873290C>A	ENSP00000423313:p.Gln418Lys	Somatic	0	145	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	111	31.90	Q2L4S6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Q418K	ENST00000506823.1	37	c.1252	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	c	25.4	4.633572	0.87660	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.68025	-0.3;-0.3	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	D	0.85465	0.5703	M	0.91459	3.21	0.80722	D	1	D	0.69078	0.997	D	0.65773	0.938	D	0.88172	0.2865	10	0.66056	D	0.02	.	19.4536	0.94878	0.0:1.0:0.0:0.0	.	418	Q49A17	GLTL6_HUMAN	K	418;401	ENSP00000423313:Q418K;ENSP00000423827:Q401K	ENSP00000423313:Q418K	Q	+	1	0	GALNTL6	174109865	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	7.747000	0.85070	2.668000	0.90789	0.478000	0.44815	CAG	-	NULL		0.582	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	protein_coding	OTTHUMT00000362395.1	C	NM_001034845	-		173873290	+1	no_errors	ENST00000506823	ensembl	human	known	74_37	missense	SNP	1.000	A
TUBD1	51174	genome.wustl.edu	37	17	57944036	57944036	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr17:57944036G>T	ENST00000592426.1	-	6	1009	c.1009C>A	c.(1009-1011)Cat>Aat	p.H337N	TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.H121N|TUBD1_ENST00000340993.6_Missense_Mutation_p.H282N|TUBD1_ENST00000325752.3_Missense_Mutation_p.H337N|TUBD1_ENST00000394239.3_Missense_Mutation_p.H337N|TUBD1_ENST00000346141.6_Missense_Mutation_p.H83N			Q9UJT1	TBD_HUMAN	tubulin, delta 1	337					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	GTGTTAAAATGCAGGTCCTTG	0.378																																																	0								ENSG00000108423						109.0	99.0	102.0					17																	57944036		2203	4300	6503	TUBD1	SO:0001583	missense	0			-	HGNC	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1009C>A	17.37:g.57944036G>T	ENSP00000468518:p.His337Asn	Somatic	0	88	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.H337N	ENST00000592426.1	37	c.1009	CCDS11620.1	17	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200179	0.38905	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000539018	T;T;T;T	0.79141	-1.07;-0.77;-1.24;-0.69	5.4	5.4	0.78164	Tubulin/FtsZ, C-terminal (1);	0.296830	0.41194	D	0.000925	T	0.70842	0.3270	L	0.31120	0.905	0.32868	D	0.508893	B;B;B;B;B	0.28880	0.0;0.2;0.145;0.226;0.001	B;B;B;B;B	0.29598	0.002;0.03;0.048;0.104;0.002	T	0.74278	-0.3717	10	0.44086	T	0.13	-5.9564	19.5343	0.95242	0.0:0.0:1.0:0.0	.	337;83;282;282;337	E9PCA7;Q9UJT1-3;Q5KU37;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	N	337;282;83;337;121	ENSP00000320797:H337N;ENSP00000342399:H282N;ENSP00000342561:H83N;ENSP00000377785:H337N	ENSP00000320797:H337N	H	-	1	0	TUBD1	55298818	1.000000	0.71417	0.387000	0.26183	0.664000	0.39144	5.366000	0.66122	2.684000	0.91462	0.650000	0.86243	CAT	-	superfamily_Tub_FtsZ_C		0.378	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	protein_coding	OTTHUMT00000448815.1	G	NM_016261	-		57944036	-1	no_errors	ENST00000325752	ensembl	human	known	74_37	missense	SNP	0.802	T
BTNL8	79908	genome.wustl.edu	37	5	180377117	180377117	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr5:180377117G>A	ENST00000340184.4	+	8	1282	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.R243Q|BTNL8_ENST00000533815.2_Missense_Mutation_p.R175Q|BTNL8_ENST00000400707.3_Missense_Mutation_p.R234Q|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.R152Q	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	359	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.R359Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGTGTGCCGGGATGATGTG	0.498																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000113303						148.0	146.0	147.0					5																	180377117		2123	3926	6049	BTNL8	SO:0001583	missense	0			-	HGNC	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1076G>A	5.37:g.180377117G>A	ENSP00000342197:p.Arg359Gln	Somatic	0	57	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	32	56.16	A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.R359Q	ENST00000340184.4	37	c.1076	CCDS43413.1	5	.	.	.	.	.	.	.	.	.	.	G	8.888	0.953311	0.18431	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	1.89	0.913	0.19354	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.62011	0.2393	L	0.37800	1.135	0.09310	N	1	P;D;B	0.57257	0.896;0.979;0.253	B;P;B	0.51582	0.16;0.674;0.041	T	0.50508	-0.8820	9	0.31617	T	0.26	.	2.4348	0.04480	0.1838:0.0:0.5198:0.2963	.	234;243;359	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	Q	359;234;243;152;175	ENSP00000342197:R359Q;ENSP00000383543:R234Q;ENSP00000425207:R243Q;ENSP00000427441:R152Q;ENSP00000435098:R175Q	ENSP00000342197:R359Q	R	+	2	0	BTNL8	180309723	0.013000	0.17824	0.151000	0.22473	0.260000	0.26232	0.475000	0.22164	0.111000	0.17947	0.430000	0.28490	CGG	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY		0.498	BTNL8-002	KNOWN	basic|CCDS	protein_coding	BTNL8	protein_coding	OTTHUMT00000368440.1	G	NM_024850	-		180377117	+1	no_errors	ENST00000340184	ensembl	human	known	74_37	missense	SNP	0.042	A
HERC1	8925	genome.wustl.edu	37	15	63958195	63958199	+	Frame_Shift_Del	DEL	ATTTG	ATTTG	-			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	ATTTG	ATTTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr15:63958195_63958199delATTTG	ENST00000443617.2	-	42	8561_8565	c.8474_8478delCAAAT	c.(8473-8478)tcaaatfs	p.SN2825fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2825					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AACAGGGATCATTTGACTTCCCGCC	0.512																																																	0								ENSG00000103657																																			HERC1	SO:0001589	frameshift_variant	0				HGNC	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8474_8478delCAAAT	15.37:g.63958195_63958199delATTTG	ENSP00000390158:p.Ser2825fs	Somatic	NA	NA	NA		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q8IW65	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.S2825fs	ENST00000443617.2	37	c.8478_8474	CCDS45277.1	15																																																																																			-	NULL		0.512	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	protein_coding	OTTHUMT00000418523.1	ATTTG	NM_003922			63958199	-1	no_errors	ENST00000443617	ensembl	human	known	74_37	frame_shift_del	DEL	0.652:0.646:0.643:0.586:1.000	-
BRINP2	57795	genome.wustl.edu	37	1	177249986	177249986	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr1:177249986G>C	ENST00000361539.4	+	8	1986	c.1674G>C	c.(1672-1674)aaG>aaC	p.K558N	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	558					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											AGAGCAACAAGTACAAGCCTG	0.552																																																	0								ENSG00000198797						57.0	47.0	51.0					1																	177249986		2203	4300	6503	BRINP2	SO:0001583	missense	0			-	HGNC		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1674G>C	1.37:g.177249986G>C	ENSP00000354481:p.Lys558Asn	Somatic	0	36	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	14	63.16	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MACPF,smart_MACPF	p.K558N	ENST00000361539.4	37	c.1674	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428776	0.43122	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.18810	2.19	5.36	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	M	0.68317	2.08	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.991	T	0.07635	-1.0762	10	0.39692	T	0.17	-27.5365	9.6307	0.39778	0.2905:0.0:0.7095:0.0	.	453;558	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	N	311;558	ENSP00000354481:K558N	ENSP00000354481:K558N	K	+	3	2	FAM5B	175516609	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.538000	0.36094	0.649000	0.30751	0.313000	0.20887	AAG	-	NULL		0.552	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	protein_coding	OTTHUMT00000084599.1	G	NM_021165	-		177249986	+1	no_errors	ENST00000361539	ensembl	human	known	74_37	missense	SNP	1.000	C
GRID2IP	392862	genome.wustl.edu	37	7	6541514	6541514	+	Silent	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr7:6541514C>T	ENST00000457091.2	-	20	3296	c.3297G>A	c.(3295-3297)ctG>ctA	p.L1099L	GRID2IP_ENST00000435185.1_Silent_p.L915L|GRID2IP_ENST00000452113.1_Silent_p.L908L	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	1099	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						GGTCACTGGTCAGGGCCCGTT	0.602																																																	0								ENSG00000215045						55.0	54.0	54.0					7																	6541514		692	1591	2283	GRID2IP	SO:0001819	synonymous_variant	0			-	HGNC		CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.3297G>A	7.37:g.6541514C>T		Somatic	0	36	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	31	32.61		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ	p.L1099	ENST00000457091.2	37	c.3297	CCDS47537.1	7																																																																																			-	pfam_FH2_Formin,smart_FH2_Formin		0.602	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	GRID2IP	protein_coding	OTTHUMT00000340534.1	C	XM_294249	-		6541514	-1	no_errors	ENST00000457091	ensembl	human	putative	74_37	silent	SNP	1.000	T
SLC18A2	6571	genome.wustl.edu	37	10	119013728	119013728	+	Intron	SNP	G	G	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr10:119013728G>T	ENST00000298472.5	+	5	750				SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2						aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TATTGGTGGTGGTTGGGGTGC	0.522																																																	0								ENSG00000165646																																			SLC18A2	SO:0001627	intron_variant	0			-	HGNC	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.607+86G>T	10.37:g.119013728G>T		Somatic	0	39	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	14	51.72	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000298472.5	37	NULL	CCDS7599.1	10																																																																																			-	-		0.522	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	protein_coding	OTTHUMT00000050563.1	G	NM_003054	-		119013728	+1	no_errors	ENST00000497497	ensembl	human	known	74_37	rna	SNP	0.012	T
TRPM7	54822	genome.wustl.edu	37	15	50920375	50920375	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr15:50920375G>T	ENST00000313478.7	-	11	1557	c.1276C>A	c.(1276-1278)Cat>Aat	p.H426N	TRPM7_ENST00000560955.1_Missense_Mutation_p.H426N	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	426					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ACAAATACATGATTTTTGGCA	0.338																																																	0								ENSG00000092439						99.0	91.0	94.0					15																	50920375		1857	4091	5948	TRPM7	SO:0001583	missense	0			-	HGNC	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1276C>A	15.37:g.50920375G>T	ENSP00000320239:p.His426Asn	Somatic	0	39	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.H426N	ENST00000313478.7	37	c.1276	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867550	0.91587	.	.	ENSG00000092439	ENST00000313478	T	0.35048	1.33	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	M	0.65975	2.015	0.80722	D	1	D	0.59357	0.985	P	0.60886	0.88	T	0.58679	-0.7594	10	0.72032	D	0.01	-22.0066	19.5489	0.95310	0.0:0.0:1.0:0.0	.	426	Q96QT4	TRPM7_HUMAN	N	426	ENSP00000320239:H426N	ENSP00000320239:H426N	H	-	1	0	TRPM7	48707667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.773000	0.85462	2.850000	0.98022	0.655000	0.94253	CAT	-	NULL		0.338	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	protein_coding	OTTHUMT00000418604.1	G	NM_017672	-		50920375	-1	no_errors	ENST00000313478	ensembl	human	known	74_37	missense	SNP	1.000	T
SPIC	121599	genome.wustl.edu	37	12	101880268	101880268	+	Missense_Mutation	SNP	A	A	G	rs574189804		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr12:101880268A>G	ENST00000551346.1	+	6	625	c.466A>G	c.(466-468)Aaa>Gaa	p.K156E	SPIC_ENST00000299272.5_Missense_Mutation_p.K156E			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	156					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						GCTTTGGGGGAAAAGAAAAGG	0.423													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19073	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000166211						57.0	58.0	58.0					12																	101880268		2203	4300	6503	SPIC	SO:0001583	missense	0			-	HGNC	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.466A>G	12.37:g.101880268A>G	ENSP00000448580:p.Lys156Glu	Somatic	0	42	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.K156E	ENST00000551346.1	37	c.466	CCDS9082.1	12	.	.	.	.	.	.	.	.	.	.	A	9.059	0.994081	0.19043	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.21191	2.02;2.02	4.69	0.604	0.17547	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.374301	0.32372	N	0.006199	T	0.07863	0.0197	N	0.12422	0.21	0.22127	N	0.999342	B	0.17465	0.022	B	0.17433	0.018	T	0.40384	-0.9566	10	0.02654	T	1	-2.7786	6.6927	0.23181	0.4693:0.4291:0.1016:0.0	.	156	Q8N5J4	SPIC_HUMAN	E	156	ENSP00000448580:K156E;ENSP00000299272:K156E	ENSP00000299272:K156E	K	+	1	0	SPIC	100404399	0.862000	0.29867	0.113000	0.21522	0.921000	0.55340	1.579000	0.36536	-0.077000	0.12752	-0.321000	0.08615	AAA	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom		0.423	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIC	protein_coding	OTTHUMT00000408260.1	A	NM_152323	-		101880268	+1	no_errors	ENST00000299272	ensembl	human	known	74_37	missense	SNP	0.385	G
OC90	729330	genome.wustl.edu	37	8	133051332	133051332	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr8:133051332C>T	ENST00000443356.2	-	7	582	c.496G>A	c.(496-498)Gat>Aat	p.D166N	OC90_ENST00000603859.1_Missense_Mutation_p.D166N|OC90_ENST00000262283.5_Missense_Mutation_p.D362N|OC90_ENST00000254627.3_Missense_Mutation_p.D166N			Q02509	OC90_HUMAN	otoconin 90	166	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GCAGCCTTATCACAGGTACAC	0.522																																																	0								ENSG00000258417						75.0	81.0	79.0					8																	133051332		2044	4211	6255	OC90	SO:0001583	missense	0			-	Uniprot_gn	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.496G>A	8.37:g.133051332C>T	ENSP00000390050:p.Asp166Asn	Somatic	0	42	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	B4DNG8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.D166N	ENST00000443356.2	37	c.496		8	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188782	0.78789	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.48836	0.8;0.8;0.8	4.61	3.73	0.42828	Phospholipase A2 (3);	0.058598	0.64402	N	0.000004	T	0.62575	0.2439	M	0.89534	3.04	0.41209	D	0.986427	P;P	0.44877	0.814;0.845	P;P	0.48654	0.449;0.585	T	0.69007	-0.5259	10	0.52906	T	0.07	-18.5336	11.8596	0.52459	0.0:0.9147:0.0:0.0853	.	166;166	Q02509-2;Q02509	.;OC90_HUMAN	N	166;166;362	ENSP00000254627:D166N;ENSP00000390050:D166N;ENSP00000262283:D362N	ENSP00000254627:D166N	D	-	1	0	RP11-240B13.2;OC90	133120514	0.999000	0.42202	0.995000	0.50966	0.987000	0.75469	3.783000	0.55409	0.943000	0.37553	0.561000	0.74099	GAT	-	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2		0.522	OC90-201	KNOWN	basic	protein_coding	OC90	protein_coding		C	NM_001080399	-		133051332	-1	no_errors	ENST00000443356	ensembl	human	known	74_37	missense	SNP	1.000	T
CAMSAP1	157922	genome.wustl.edu	37	9	138714789	138714789	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr9:138714789G>A	ENST00000389532.4	-	11	1782	c.1718C>T	c.(1717-1719)gCc>gTc	p.A573V	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A295V|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A584V	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	573					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGGAGACCGGGCATTTGCTGT	0.567																																																	0								ENSG00000130559						90.0	101.0	97.0					9																	138714789		2203	4300	6503	CAMSAP1	SO:0001583	missense	0			-	HGNC	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1718C>T	9.37:g.138714789G>A	ENSP00000374183:p.Ala573Val	Somatic	0	43	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.A584V	ENST00000389532.4	37	c.1751	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348552	0.24426	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.16897	2.35;2.31;2.35	5.2	4.29	0.51040	.	0.393440	0.27504	N	0.019061	T	0.16896	0.0406	L	0.43152	1.355	0.24380	N	0.994796	B;B	0.13594	0.002;0.008	B;B	0.13407	0.007;0.009	T	0.16394	-1.0404	10	0.87932	D	0	-8.4349	12.8343	0.57765	0.0803:0.0:0.9197:0.0	.	573;584	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	V	573;295;584	ENSP00000374183:A573V;ENSP00000312463:A295V;ENSP00000386420:A584V	ENSP00000312463:A295V	A	-	2	0	CAMSAP1	137854610	0.684000	0.27642	0.356000	0.25785	0.079000	0.17450	3.792000	0.55476	1.170000	0.42753	0.655000	0.94253	GCC	-	NULL		0.567	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	protein_coding	OTTHUMT00000055024.2	G	XM_351857	-		138714789	-1	no_errors	ENST00000409386	ensembl	human	known	74_37	missense	SNP	0.479	A
DDX10	1662	genome.wustl.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	TGA	TGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																			Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0								ENSG00000178105			25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				DDX10	SO:0001651	inframe_deletion	0				HGNC	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del	Somatic	0	34	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B2RCQ3|Q5BJD8	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D784in_frame_del	ENST00000322536.3	37	c.2340_2342	CCDS8342.1	11																																																																																			-	NULL		0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX10	protein_coding	OTTHUMT00000390343.1	TGA	NM_004398			108788637	+1	no_errors	ENST00000322536	ensembl	human	known	74_37	in_frame_del	DEL	0.998:0.997:0.996	-
AFAP1L2	84632	genome.wustl.edu	37	10	116062144	116062144	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr10:116062144C>A	ENST00000304129.4	-	12	1413	c.1384G>T	c.(1384-1386)Gcc>Tcc	p.A462S	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.A462S|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A515S|AFAP1L2_ENST00000491814.1_5'Flank			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	462					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		ACCCTATCGGCATCCACATAG	0.527																																																	0								ENSG00000169129						148.0	161.0	156.0					10																	116062144		2203	4300	6503	AFAP1L2	SO:0001583	missense	0			-	HGNC	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1384G>T	10.37:g.116062144C>A	ENSP00000303042:p.Ala462Ser	Somatic	0	27	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	6	66.67	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A515S	ENST00000304129.4	37	c.1543	CCDS31286.1	10	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126070	0.77436	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.29397	1.57;1.57;1.57	5.67	5.67	0.87782	.	0.111674	0.64402	D	0.000011	T	0.53029	0.1771	M	0.62723	1.935	0.43714	D	0.996184	D;P;P;P;D;D	0.71674	0.965;0.865;0.941;0.863;0.998;0.997	P;P;P;P;P;P	0.61874	0.838;0.521;0.571;0.666;0.895;0.788	T	0.51140	-0.8743	10	0.59425	D	0.04	-25.651	19.773	0.96379	0.0:1.0:0.0:0.0	.	515;28;516;490;462;462	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;AF1L2_HUMAN	S	462;462;489;515	ENSP00000358276:A462S;ENSP00000303042:A462S;ENSP00000444511:A515S	ENSP00000303042:A462S	A	-	1	0	AFAP1L2	116052134	1.000000	0.71417	0.961000	0.40146	0.799000	0.45148	2.400000	0.44504	2.677000	0.91161	0.655000	0.94253	GCC	-	NULL		0.527	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	protein_coding	OTTHUMT00000050462.1	C	NM_032550	-		116062144	-1	no_errors	ENST00000545353	ensembl	human	known	74_37	missense	SNP	0.992	A
DLC1	10395	genome.wustl.edu	37	8	12943085	12943086	+	3'UTR	INS	-	-	T	rs60094700|rs556885940		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr8:12943085_12943086insT	ENST00000276297.4	-	0	5230_5231				DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_3'UTR|DLC1_ENST00000512044.2_Intron	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein						actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATACACataaattttttttttt	0.297																																																	0								ENSG00000164741																																			DLC1	SO:0001624	3_prime_UTR_variant	0				HGNC	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.*235->A	8.37:g.12943096_12943096dupT		Somatic	0	35	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	34	8.11	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000276297.4	37	NULL	CCDS5989.1	8																																																																																			-	-		0.297	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	protein_coding	OTTHUMT00000207632.2	-	NM_182643, NM_006094			12943086	-1	no_errors	ENST00000510318	ensembl	human	known	74_37	rna	INS	0.000:0.000	T
HPSE2	60495	genome.wustl.edu	37	10	100481499	100481499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr10:100481499G>A	ENST00000370552.3	-	5	930	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	HPSE2_ENST00000370546.1_Nonsense_Mutation_p.Q291*|HPSE2_ENST00000370549.1_Nonsense_Mutation_p.Q233*|HPSE2_ENST00000404542.1_Nonsense_Mutation_p.Q179*	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	291					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CGGATGGGCTGCAACAGGCTC	0.493																																																	0								ENSG00000172987						78.0	71.0	74.0					10																	100481499		2203	4300	6503	HPSE2	SO:0001587	stop_gained	0			-	HGNC	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.871C>T	10.37:g.100481499G>A	ENSP00000359583:p.Gln291*	Somatic	0	65	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	47	11.32	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.Q291*	ENST00000370552.3	37	c.871	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.745860	0.96882	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-1.2801	19.6357	0.95731	0.0:0.0:1.0:0.0	.	.	.	.	X	291;233;291;179	.	ENSP00000359577:Q291X	Q	-	1	0	HPSE2	100471489	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.872000	0.92352	2.706000	0.92434	0.551000	0.68910	CAG	-	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF		0.493	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	protein_coding	OTTHUMT00000049789.1	G	NM_021828	-		100481499	-1	no_errors	ENST00000370552	ensembl	human	known	74_37	nonsense	SNP	1.000	A
ITGA4	3676	genome.wustl.edu	37	2	182346351	182346351	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:182346351C>T	ENST00000397033.2	+	7	1211	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	261					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGGTCATTTTCGGAGCCAGCA	0.383																																																	0								ENSG00000115232						61.0	57.0	58.0					2																	182346351		1814	4083	5897	ITGA4	SO:0001583	missense	0			-	HGNC		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.781C>T	2.37:g.182346351C>T	ENSP00000380227:p.Arg261Trp	Somatic	0	65	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R261W	ENST00000397033.2	37	c.781	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749299	0.30955	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.71579	-0.58;-0.58	5.54	3.72	0.42706	.	0.717535	0.13491	N	0.383966	T	0.61850	0.2380	L	0.43152	1.355	0.28421	N	0.917743	B;B	0.12630	0.004;0.006	B;B	0.06405	0.002;0.002	T	0.53563	-0.8421	10	0.38643	T	0.18	.	10.4261	0.44378	0.0:0.7862:0.0:0.2138	.	261;261	E7EP60;P13612	.;ITA4_HUMAN	W	261	ENSP00000380227:R261W;ENSP00000233573:R261W	ENSP00000233573:R261W	R	+	1	2	ITGA4	182054596	0.813000	0.29090	0.289000	0.24876	0.391000	0.30476	1.053000	0.30442	0.667000	0.31107	0.591000	0.81541	CGG	-	smart_Int_alpha_beta-p		0.383	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	protein_coding	OTTHUMT00000334427.1	C		-		182346351	+1	no_errors	ENST00000397033	ensembl	human	known	74_37	missense	SNP	0.961	T
CEP44	80817	genome.wustl.edu	37	4	175225412	175225412	+	Silent	SNP	A	A	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr4:175225412A>G	ENST00000503780.1	+	6	813	c.399A>G	c.(397-399)caA>caG	p.Q133Q	CEP44_ENST00000457424.2_Silent_p.Q133Q|CEP44_ENST00000296519.4_Silent_p.Q133Q|CEP44_ENST00000426172.1_Silent_p.Q133Q	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	133						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						CATCACAACAAAGAAAGAAAA	0.313																																																	0								ENSG00000164118						59.0	63.0	62.0					4																	175225412		2203	4300	6503	CEP44	SO:0001819	synonymous_variant	0			-	HGNC	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.399A>G	4.37:g.175225412A>G		Somatic	0	41	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.Q133	ENST00000503780.1	37	c.399	CCDS34106.1	4																																																																																			-	NULL		0.313	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP44	protein_coding	OTTHUMT00000362109.2	A	NM_030633	-		175225412	+1	no_errors	ENST00000426172	ensembl	human	known	74_37	silent	SNP	0.982	G
ZBED9	114821	genome.wustl.edu	37	6	28542992	28542992	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr6:28542992T>G	ENST00000452236.2	-	3	2107	c.1490A>C	c.(1489-1491)gAa>gCa	p.E497A	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCACAAAAATTCAGTCCAGTG	0.443																																																	0								ENSG00000232040						129.0	128.0	128.0					6																	28542992		2203	4300	6503	SCAND3	SO:0001583	missense	0			-	HGNC																												ENST00000452236.2:c.1490A>C	6.37:g.28542992T>G	ENSP00000395259:p.Glu497Ala	Somatic	0	22	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.E497A	ENST00000452236.2	37	c.1490	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266641	0.40095	.	.	ENSG00000232040	ENST00000452236	T	0.46063	0.88	3.37	2.14	0.27477	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.19805	0.0476	M	0.65498	2.005	0.23277	N	0.997996	B	0.22800	0.075	B	0.17433	0.018	T	0.28459	-1.0043	9	0.56958	D	0.05	.	6.5009	0.22168	0.0:0.0:0.2503:0.7497	.	497	Q6R2W3	SCND3_HUMAN	A	497	ENSP00000395259:E497A	ENSP00000395259:E497A	E	-	2	0	SCAND3	28650971	0.998000	0.40836	0.972000	0.41901	0.713000	0.41058	1.756000	0.38390	0.465000	0.27167	0.379000	0.24179	GAA	-	superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core		0.443	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	T		-		28542992	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	SNP	0.983	G
ACSS2	55902	genome.wustl.edu	37	20	33501958	33501958	+	Nonsense_Mutation	SNP	C	C	T	rs140958101	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr20:33501958C>T	ENST00000360596.2	+	6	914	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	ACSS2_ENST00000253382.5_Nonsense_Mutation_p.Q235*|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Nonsense_Mutation_p.Q185*	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	235					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGAGGCCCTGCAGAAGTGTCA	0.532																																																	0								ENSG00000131069						97.0	102.0	100.0					20																	33501958		2203	4300	6503	ACSS2	SO:0001587	stop_gained	0			-	HGNC	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.703C>T	20.37:g.33501958C>T	ENSP00000353804:p.Gln235*	Somatic	0	42	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	30	38.78	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AMP-dep_Synth/Lig	p.Q235*	ENST00000360596.2	37	c.703	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352825	0.82132	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000253382	.	.	.	5.24	3.21	0.36854	.	0.270397	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9308	8.76	0.34669	0.0906:0.4608:0.4487:0.0	.	.	.	.	X	185;235;235;235	.	ENSP00000253382:Q235X	Q	+	1	0	ACSS2	32965619	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.128000	0.42045	1.441000	0.47550	-0.165000	0.13383	CAG	-	pfam_AMP-dep_Synth/Lig		0.532	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	protein_coding	OTTHUMT00000078823.3	C	NM_018677	-		33501958	+1	no_errors	ENST00000253382	ensembl	human	known	74_37	nonsense	SNP	1.000	T
SGOL2	151246	genome.wustl.edu	37	2	201435917	201435917	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr2:201435917A>G	ENST00000357799.4	+	7	946	c.848A>G	c.(847-849)aAt>aGt	p.N283S		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	283					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGGGAATCAAATAATCTTTCT	0.398																																																	0								ENSG00000163535						141.0	131.0	134.0					2																	201435917		1880	4114	5994	SGOL2	SO:0001583	missense	0			-	HGNC	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.848A>G	2.37:g.201435917A>G	ENSP00000350447:p.Asn283Ser	Somatic	0	25	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.N283S	ENST00000357799.4	37	c.848	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	A	9.916	1.210725	0.22289	.	.	ENSG00000163535	ENST00000357799	T	0.13089	2.62	5.02	-1.69	0.08186	.	1.454290	0.03960	N	0.289922	T	0.08980	0.0222	L	0.34521	1.04	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.09377	0.004;0.004;0.004	T	0.31166	-0.9953	10	0.21014	T	0.42	0.4011	1.452	0.02377	0.4416:0.2631:0.1671:0.1281	.	283;283;283	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	S	283	ENSP00000350447:N283S	ENSP00000350447:N283S	N	+	2	0	SGOL2	201144162	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	-0.035000	0.12205	-0.167000	0.10871	0.528000	0.53228	AAT	-	NULL		0.398	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	protein_coding	OTTHUMT00000335834.1	A	NM_152524	-		201435917	+1	no_errors	ENST00000357799	ensembl	human	known	74_37	missense	SNP	0.000	G
CEACAM5	1048	genome.wustl.edu	37	19	42224051	42224051	+	Silent	SNP	C	C	T			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr19:42224051C>T	ENST00000221992.6	+	7	1809	c.1695C>T	c.(1693-1695)gaC>gaT	p.D565D	CEACAM5_ENST00000398599.4_Silent_p.D564D|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.D565D	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	565	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAAGAAATGACGCAAGAGCCT	0.517																																																	0								ENSG00000105388						202.0	183.0	189.0					19																	42224051		2203	4300	6503	CEACAM5	SO:0001819	synonymous_variant	0			-	HGNC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1695C>T	19.37:g.42224051C>T		Somatic	0	144	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	119	88	57.49	H9KVA7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D565	ENST00000221992.6	37	c.1695	CCDS12584.1	19	.	.	.	.	.	.	.	.	.	.	C	1.416	-0.574235	0.03882	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.54	-2.53	0.06326	.	.	.	.	.	T	0.28267	0.0698	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.31586	-0.9938	4	.	.	.	.	6.6999	0.23219	0.0:0.3274:0.0:0.6726	.	.	.	.	C	561	.	.	R	+	1	0	CEACAM5	46915891	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.781000	0.01774	-0.549000	0.06191	0.404000	0.27445	CGC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	protein_coding	OTTHUMT00000321132.2	C	NM_004363	-		42224051	+1	no_errors	ENST00000221992	ensembl	human	known	74_37	silent	SNP	0.000	T
TPH2	121278	genome.wustl.edu	37	12	72425339	72425339	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr12:72425339A>G	ENST00000333850.3	+	11	1478	c.1337A>G	c.(1336-1338)tAc>tGc	p.Y446C		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	446					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.Y446F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTCTCAGTATACTTCAATCCC	0.418																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000139287						110.0	98.0	102.0					12																	72425339		2203	4299	6502	TPH2	SO:0001583	missense	0			-	HGNC	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1337A>G	12.37:g.72425339A>G	ENSP00000329093:p.Tyr446Cys	Somatic	0	79	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	52	29.33	A6NGA4|Q14CB0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.Y446C	ENST00000333850.3	37	c.1337	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308950	0.60305	.	.	ENSG00000139287	ENST00000333850	D	0.99515	-6.06	5.86	5.86	0.93980	Aromatic amino acid hydroxylase, C-terminal (4);	0.207187	0.43260	D	0.000591	D	0.98969	0.9649	L	0.34521	1.04	0.58432	D	0.999999	P	0.35226	0.491	P	0.52627	0.704	D	0.99864	1.1087	10	0.66056	D	0.02	-7.4104	16.2526	0.82494	1.0:0.0:0.0:0.0	.	446	Q8IWU9	TPH2_HUMAN	C	446	ENSP00000329093:Y446C	ENSP00000329093:Y446C	Y	+	2	0	TPH2	70711606	1.000000	0.71417	0.921000	0.36526	0.974000	0.67602	5.381000	0.66208	2.241000	0.73720	0.482000	0.46254	TAC	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase		0.418	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	protein_coding	OTTHUMT00000405234.1	A	NM_173353	-		72425339	+1	no_errors	ENST00000333850	ensembl	human	known	74_37	missense	SNP	1.000	G
GAPVD1	26130	genome.wustl.edu	37	9	128025963	128025989	+	Intron	DEL	CAGCACTCCATCTGTAGGTATGTCTGT	CAGCACTCCATCTGTAGGTATGTCTGT	-	rs551743640|rs71374244|rs143312600	byFrequency	TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	CAGCACTCCATCTGTAGGTATGTCTGT	CAGCACTCCATCTGTAGGTATGTCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr9:128025963_128025989delCAGCACTCCATCTGTAGGTATGTCTGT	ENST00000495955.1	+	1	92				GAPVD1_ENST00000394104.2_Intron|GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000394105.2_Intron|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000394084.1_Intron|GAPVD1_ENST00000297933.6_Intron|GAPVD1_ENST00000265956.4_Intron|GAPVD1_ENST00000469528.1_3'UTR			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1						endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTAAGTGGCACAGCACTCCATCTGTAGGTATGTCTGTCAGCACTCCA	0.564														2105	0.420327	0.4516	0.3818	5008	,	,		19587	0.4454		0.3777	False		,,,				2504	0.4233																0								ENSG00000165219																																			GAPVD1	SO:0001627	intron_variant	0				HGNC		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.-199+1725CAGCACTCCATCTGTAGGTATGTCTGT>-	9.37:g.128025963_128025989delCAGCACTCCATCTGTAGGTATGTCTGT		Somatic	NA	NA	NA		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Splice_Site	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000495955.1	37	c.NULL		9																																																																																			-	-		0.564	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	protein_coding	OTTHUMT00000355644.1	CAGCACTCCATCTGTAGGTATGTCTGT				128025989	+1	no_errors	ENST00000469528	ensembl	human	known	74_37	splice_site_del	DEL	1.000:1.000:1.000:1.000:1.000:0.999:0.996:0.980:0.970:0.963:0.961:0.959:0.952:0.948:0.947:0.950:0.961:0.966:0.966:0.969:0.974:0.982:0.984:0.985:0.984:0.985:0.993	-
LOC101927755	101927755	genome.wustl.edu	37	17	58066651	58066651	+	lincRNA	SNP	C	C	T	rs376360537		TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333																																																	0								ENSG00000267104																																			TBC1D3P1-DHX40P1			0			-	HGNC																													17.37:g.58066651C>T		Somatic	0	48	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000586209.1	37	NULL		17																																																																																			-	-		0.333	RP11-178C3.2-001	KNOWN	basic	lincRNA	TBC1D3P1-DHX40P1	lincRNA	OTTHUMT00000449162.1	C		-		58066651	-1	no_errors	ENST00000587125	ensembl	human	known	74_37	rna	SNP	1.000	T
CARD14	79092	genome.wustl.edu	37	17	78177536	78177536	+	Intron	SNP	C	C	G			TCGA-DX-A3U9-01A-11D-A307-09	TCGA-DX-A3U9-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	757e3c75-8782-4f76-89b7-c2736223db4d	c8fc1be9-0d23-4f7b-8759-d4076ab6651d	g.chr17:78177536C>G	ENST00000573882.1	+	18	2755				CARD14_ENST00000392434.2_Intron|RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000344227.2_Intron|RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14						activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCGGCCATCTCCCCCACTCTC	0.672																																																	0								ENSG00000262580																																			RP11-334C17.5	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2220-85C>G	17.37:g.78177536C>G		Somatic	0	42	0.00		0.6701103044248838	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	B8QQJ3|Q9BVB5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000573882.1	37	NULL	CCDS11768.1	17																																																																																			-	-		0.672	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929888	protein_coding	OTTHUMT00000437507.1	C		-		78177536	-1	no_errors	ENST00000570309	ensembl	human	known	74_37	rna	SNP	0.006	G
