#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
LOC101927616	101927616	genome.wustl.edu	37	12	127808712	127808716	+	lincRNA	DEL	TTATT	TTATT	-	rs113199941|rs71856986|rs147898607	byFrequency	TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	TTATT	TTATT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:127808712_127808716delTTATT	ENST00000545739.1	-	0	835_839				RNU1-104P_ENST00000517280.1_RNA																							GTGTGCATTAttattttattttatt	0.312														550	0.109824	0.2625	0.0793	5008	,	,		17484	0.004		0.1054	False		,,,				2504	0.0389																0								ENSG00000256362																																			RP11-955H22.3			0				Clone_based_vega_gene																													12.37:g.127808722_127808726delTTATT		Somatic	NA	NA	NA		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000545739.1	37	NULL		12																																																																																			-	-		0.312	RP11-955H22.3-001	KNOWN	basic	lincRNA	LOC101927616	lincRNA	OTTHUMT00000399773.1	TTATT				127808716	-1	no_errors	ENST00000545739	ensembl	human	known	74_37	rna	DEL	0.001:0.001:0.001:0.002:0.002	-
BTN2A3P	54718	genome.wustl.edu	37	6	26422387	26422388	+	RNA	INS	-	-	CTTCCTCCTCCT	rs141260282	byFrequency	TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr6:26422387_26422388insCTTCCTCCTCCT	ENST00000466808.2	+	0	41_42							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											CGGCCAGCCTCCCTCCTCCTCC	0.589														503	0.100439	0.1188	0.1427	5008	,	,		16333	0.0258		0.1083	False		,,,				2504	0.1145																0								ENSG00000124549																																			BTN2A3P			0				HGNC	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422387_26422388insCTTCCTCCTCCT		Somatic	NA	NA	NA		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A6NEF4	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000466808.2	37	NULL		6																																																																																			-	-		0.589	BTN2A3P-001	KNOWN	basic	processed_transcript	BTN2A3P	pseudogene	OTTHUMT00000040118.4	-	NR_027795			26422388	+1	no_errors	ENST00000465856	ensembl	human	known	74_37	rna	INS	0.003:0.002	CTTCCTCCTCCT
PEX11B	8799	genome.wustl.edu	37	1	145522894	145522894	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr1:145522894A>G	ENST00000369306.3	+	4	904	c.755A>G	c.(754-756)tAt>tGt	p.Y252C	PEX11B_ENST00000537888.1_Missense_Mutation_p.Y238C|ITGA10_ENST00000369304.3_5'Flank|ITGA10_ENST00000538811.1_5'Flank|ITGA10_ENST00000539363.1_5'Flank	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	252	Interaction with PEX19 and peroxisome targeting.				peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCCTAATCTATCCCTGGCTA	0.552																																																	0								ENSG00000131779						95.0	85.0	88.0					1																	145522894		2203	4300	6503	PEX11B	SO:0001583	missense	0			-	HGNC	AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.755A>G	1.37:g.145522894A>G	ENSP00000358312:p.Tyr252Cys	Somatic	0	28	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PEX11	p.Y252C	ENST00000369306.3	37	c.755	CCDS917.1	1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.508849	0.27036	.	.	ENSG00000131779	ENST00000369306;ENST00000537888;ENST00000428634	T;T	0.42900	0.98;0.96	5.44	-0.747	0.11091	.	0.284838	0.40302	N	0.001127	T	0.10680	0.0261	N	0.25485	0.75	0.29447	N	0.85873	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26916	-1.0089	10	0.36615	T	0.2	0.1628	9.6263	0.39752	0.5936:0.0:0.4064:0.0	.	238;252	B4DXH9;O96011	.;PX11B_HUMAN	C	252;238;74	ENSP00000358312:Y252C;ENSP00000437510:Y238C	ENSP00000358312:Y252C	Y	+	2	0	PEX11B	144234251	0.799000	0.28903	0.947000	0.38551	0.913000	0.54294	2.223000	0.42936	-0.288000	0.09051	-0.912000	0.02778	TAT	-	NULL		0.552	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX11B	protein_coding	OTTHUMT00000038549.1	A	NM_003846	-		145522894	+1	no_errors	ENST00000369306	ensembl	human	known	74_37	missense	SNP	0.992	G
WRN	7486	genome.wustl.edu	37	8	30938397	30938397	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr8:30938397T>G	ENST00000298139.5	+	9	1103	c.854T>G	c.(853-855)cTa>cGa	p.L285R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	285					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCTATCTTACTAAAGGATATT	0.299			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0								ENSG00000165392						24.0	27.0	26.0					8																	30938397		2180	4285	6465	WRN	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria	-	HGNC		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.854T>G	8.37:g.30938397T>G	ENSP00000298139:p.Leu285Arg	Somatic	0	41	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	27	47.06	A1KYY9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.L285R	ENST00000298139.5	37	c.854	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210894	0.39102	.	.	ENSG00000165392	ENST00000298139	T	0.57107	0.42	5.83	5.83	0.93111	.	0.167294	0.39687	N	0.001293	T	0.70675	0.3251	M	0.70275	2.135	0.09310	N	1	D	0.76494	0.999	D	0.71656	0.974	T	0.66598	-0.5883	10	0.87932	D	0	-5.7871	14.4426	0.67327	0.0:0.0:0.0:1.0	.	285	Q14191	WRN_HUMAN	R	285	ENSP00000298139:L285R	ENSP00000298139:L285R	L	+	2	0	WRN	31057939	0.943000	0.32029	0.211000	0.23655	0.108000	0.19459	4.608000	0.61141	2.236000	0.73375	0.533000	0.62120	CTA	-	NULL		0.299	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	protein_coding	OTTHUMT00000376248.1	T		-		30938397	+1	no_errors	ENST00000298139	ensembl	human	known	74_37	missense	SNP	0.045	G
KIF26A	26153	genome.wustl.edu	37	14	104638995	104638995	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr14:104638995C>A	ENST00000423312.2	+	7	1410	c.1410C>A	c.(1408-1410)caC>caA	p.H470Q	KIF26A_ENST00000315264.7_Missense_Mutation_p.H331Q	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	470	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTTTGGCCACATGAGCCTGG	0.617																																																	0								ENSG00000066735						81.0	82.0	82.0					14																	104638995		2071	4194	6265	KIF26A	SO:0001583	missense	0			-	HGNC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1410C>A	14.37:g.104638995C>A	ENSP00000388241:p.His470Gln	Somatic	0	115	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	64	16.88	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.H470Q	ENST00000423312.2	37	c.1410	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667664	0.29604	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.34472	1.36;1.36	4.25	1.02	0.19986	Kinesin, motor domain (5);	.	.	.	.	T	0.08492	0.0211	N	0.00308	-1.67	0.42244	D	0.991943	B	0.29552	0.248	B	0.30179	0.112	T	0.09684	-1.0663	9	0.25106	T	0.35	.	4.8344	0.13456	0.0:0.4343:0.3285:0.2372	.	470	Q9ULI4	KI26A_HUMAN	Q	470;331	ENSP00000388241:H470Q;ENSP00000325452:H331Q	ENSP00000325452:H331Q	H	+	3	2	KIF26A	103708748	0.997000	0.39634	0.232000	0.24009	0.223000	0.24884	0.485000	0.22324	0.229000	0.21039	0.462000	0.41574	CAC	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.617	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	protein_coding	OTTHUMT00000414356.1	C		-		104638995	+1	no_errors	ENST00000423312	ensembl	human	known	74_37	missense	SNP	0.976	A
NRP2	8828	genome.wustl.edu	37	2	206608046	206608046	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr2:206608046C>T	ENST00000357785.5	+	9	1442	c.1411C>T	c.(1411-1413)Cgc>Tgc	p.R471C	NRP2_ENST00000417189.1_Missense_Mutation_p.R471C|NRP2_ENST00000357118.4_Missense_Mutation_p.R471C|NRP2_ENST00000360409.3_Missense_Mutation_p.R471C|NRP2_ENST00000540178.1_Missense_Mutation_p.R471C|NRP2_ENST00000412873.2_Missense_Mutation_p.R471C|NRP2_ENST00000272849.3_Missense_Mutation_p.R471C|NRP2_ENST00000355117.4_Missense_Mutation_p.R471C|NRP2_ENST00000540841.1_Missense_Mutation_p.R471C			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGTTAGCAGCCGCTCGGGCTG	0.612																																																	0								ENSG00000118257						62.0	72.0	68.0					2																	206608046		2203	4298	6501	NRP2	SO:0001583	missense	0			-	HGNC	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1411C>T	2.37:g.206608046C>T	ENSP00000350432:p.Arg471Cys	Somatic	0	86	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	69	17.86	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.R471C	ENST00000357785.5	37	c.1411	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844395	0.91197	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-1.67;-1.67;-5.25;-5.25;-5.25;-5.25	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99318	0.9761	M	0.89214	3.015	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.995;0.998;0.998;0.999	D	0.99289	1.0898	10	0.87932	D	0	-25.3417	20.3928	0.98949	0.0:1.0:0.0:0.0	.	471;471;471;471;471;471	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	471	ENSP00000353582:R471C;ENSP00000439658:R471C;ENSP00000439261:R471C;ENSP00000347238:R471C;ENSP00000387519:R471C;ENSP00000349632:R471C;ENSP00000350432:R471C;ENSP00000407626:R471C;ENSP00000272849:R471C	ENSP00000272849:R471C	R	+	1	0	NRP2	206316291	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	7.756000	0.85195	2.813000	0.96785	0.655000	0.94253	CGC	-	pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.612	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	protein_coding	OTTHUMT00000336467.1	C		-		206608046	+1	no_errors	ENST00000360409	ensembl	human	known	74_37	missense	SNP	1.000	T
CDKAL1	54901	genome.wustl.edu	37	6	20781386	20781386	+	Silent	SNP	G	G	C			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr6:20781386G>C	ENST00000378610.1	+	6	538	c.528G>C	c.(526-528)gtG>gtC	p.V176V	CDKAL1_ENST00000378624.4_Silent_p.V106V|CDKAL1_ENST00000274695.4_Silent_p.V176V|RP3-348I23.2_ENST00000421167.1_RNA			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	176					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GTCACTCTGTGAGACTGCTGG	0.398																																																	0								ENSG00000145996						153.0	150.0	151.0					6																	20781386		2203	4300	6503	CDKAL1	SO:0001819	synonymous_variant	0			-	HGNC	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.528G>C	6.37:g.20781386G>C		Somatic	0	45	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	11	67.65	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	p.V176	ENST00000378610.1	37	c.528	CCDS4546.1	6																																																																																			-	tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase		0.398	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKAL1	protein_coding	OTTHUMT00000039986.1	G	NM_017774	-		20781386	+1	no_errors	ENST00000274695	ensembl	human	known	74_37	silent	SNP	1.000	C
DDAH1	23576	genome.wustl.edu	37	1	85787222	85787222	+	Silent	SNP	C	C	G			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr1:85787222C>G	ENST00000284031.8	-	6	865	c.771G>C	c.(769-771)ctG>ctC	p.L257L	DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000535924.2_Silent_p.L154L|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000542148.1_Silent_p.L157L|DDAH1_ENST00000426972.3_Silent_p.L164L|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Silent_p.L257L	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	257					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TCACGGGGATCAGCATATGGT	0.443																																																	0								ENSG00000153904						112.0	100.0	104.0					1																	85787222		2203	4300	6503	DDAH1	SO:0001819	synonymous_variant	0			-	HGNC	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.771G>C	1.37:g.85787222C>G		Somatic	0	67	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	48	17.24	Q5HYC8|Q86XK5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Amidino_trans	p.L257	ENST00000284031.8	37	c.771	CCDS705.1	1																																																																																			-	pfam_Amidino_trans		0.443	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	protein_coding	OTTHUMT00000029189.1	C		-		85787222	-1	no_errors	ENST00000284031	ensembl	human	known	74_37	silent	SNP	1.000	G
HSD3B1	3283	genome.wustl.edu	37	1	120056737	120056737	+	Silent	SNP	C	C	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr1:120056737C>T	ENST00000369413.3	+	4	736	c.591C>T	c.(589-591)ttC>ttT	p.F197F	HSD3B1_ENST00000528909.1_Silent_p.F197F|HSD3B1_ENST00000235547.6_Silent_p.F199F			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	197					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GAAGCCGATTCCTTTCTGCTA	0.498																																																	0								ENSG00000203857						89.0	87.0	87.0					1																	120056737		2203	4300	6503	HSD3B1	SO:0001819	synonymous_variant	0			-	HGNC	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.591C>T	1.37:g.120056737C>T		Somatic	0	64	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	32	37.74	A8K691|Q14545|Q8IV65	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	p.F199	ENST00000369413.3	37	c.597	CCDS903.1	1																																																																																			-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct		0.498	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	protein_coding	OTTHUMT00000034993.3	C	NM_000862	-		120056737	+1	no_errors	ENST00000235547	ensembl	human	known	74_37	silent	SNP	0.006	T
MYRFL	196446	genome.wustl.edu	37	12	70297595	70297595	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:70297595G>C	ENST00000552032.2	+	11	1568	c.1354G>C	c.(1354-1356)Gac>Cac	p.D452H	MYRFL_ENST00000547771.2_Missense_Mutation_p.D452H|RP11-611E13.2_ENST00000549419.1_RNA			Q96LU7	MRFL_HUMAN	myelin regulatory factor-like	452	Peptidase S74.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCATCCCTCTGACAGCCGGGC	0.582																																																	0								ENSG00000166268																																			MYRFL	SO:0001583	missense	0			-	HGNC	AK057785		12q15	2012-12-19	2012-12-19	2012-12-19	ENSG00000166268	ENSG00000166268			26316	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 15"", ""chromosome 12 open reading frame 28"""	C12orf15, C12orf28			Standard	XM_006709961		Approved	FLJ25056, bcm1377		Q96LU7	OTTHUMG00000169438	ENST00000552032.2:c.1354G>C	12.37:g.70297595G>C	ENSP00000448753:p.Asp452His	Somatic	0	44	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	84	19.23		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.D452H	ENST00000552032.2	37	c.1354		12	.	.	.	.	.	.	.	.	.	.	G	34	5.291622	0.95546	.	.	ENSG00000166268	ENST00000552032	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	D	0.88808	0.6537	H	0.96048	3.76	0.80722	D	1	.	.	.	.	.	.	D	0.90871	0.4746	6	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	H	156	.	ENSP00000449598:D452H	D	+	1	0	C12orf28	68583862	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GAC	-	NULL		0.582	MYRFL-004	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	MYRFL	protein_coding	OTTHUMT00000404016.2	G	NM_182530	-		70297595	+1	no_errors	ENST00000552032	ensembl	human	putative	74_37	missense	SNP	1.000	C
WWP2	11060	genome.wustl.edu	37	16	69974022	69974022	+	3'UTR	SNP	G	G	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr16:69974022G>T	ENST00000359154.2	+	0	2893				WWP2_ENST00000568684.1_3'UTR|WWP2_ENST00000448661.1_3'UTR|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2						cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGTTCCCCCGACCCGCGGAT	0.617																																																	0								ENSG00000198373																																			WWP2	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.*179G>T	16.37:g.69974022G>T		Somatic	0	47	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	34	45.16	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000359154.2	37	NULL	CCDS10885.1	16																																																																																			-	-		0.617	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	protein_coding	OTTHUMT00000268954.1	G	NM_007014	-		69974022	+1	no_errors	ENST00000544162	ensembl	human	known	74_37	rna	SNP	0.000	T
GREB1	9687	genome.wustl.edu	37	2	11780503	11780503	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr2:11780503C>T	ENST00000381486.2	+	33	6073	c.5773C>T	c.(5773-5775)Cgg>Tgg	p.R1925W	GREB1_ENST00000234142.5_Missense_Mutation_p.R1925W|GREB1_ENST00000396123.1_Missense_Mutation_p.R923W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1925						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTGGCAGTTCCGGCTGCGCGA	0.617																																					Ovarian(39;850 945 2785 23371 33093)												0								ENSG00000196208						48.0	57.0	54.0					2																	11780503		2028	4163	6191	GREB1	SO:0001583	missense	0			-	HGNC		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5773C>T	2.37:g.11780503C>T	ENSP00000370896:p.Arg1925Trp	Somatic	0	41	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	22	47.62	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_P-loop_NTPase	p.R1925W	ENST00000381486.2	37	c.5773	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232348	0.79688	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.33438	2.73;2.73;1.41	5.04	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.73217	2.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.61451	-0.7060	10	0.87932	D	0	-27.1738	16.0839	0.81025	0.1433:0.8566:0.0:0.0	.	1925	Q4ZG55	GREB1_HUMAN	W	1925;1925;923	ENSP00000370896:R1925W;ENSP00000234142:R1925W;ENSP00000379429:R923W	ENSP00000234142:R1925W	R	+	1	2	GREB1	11697954	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.852000	0.48310	2.316000	0.78162	0.563000	0.77884	CGG	-	NULL		0.617	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	protein_coding	OTTHUMT00000280490.1	C	NM_014668	-		11780503	+1	no_errors	ENST00000234142	ensembl	human	known	74_37	missense	SNP	1.000	T
SIN3A	25942	genome.wustl.edu	37	15	75722672	75722672	+	Silent	SNP	G	G	A			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr15:75722672G>A	ENST00000394947.3	-	2	359	c.45C>T	c.(43-45)gcC>gcT	p.A15A	SIN3A_ENST00000567289.1_Silent_p.A15A|SIN3A_ENST00000360439.4_Silent_p.A15A|SIN3A_ENST00000394949.4_Silent_p.A15A	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GACGCTGCTGGGCTGCATACA	0.567																																																	0								ENSG00000169375						66.0	56.0	59.0					15																	75722672		2197	4294	6491	SIN3A	SO:0001819	synonymous_variant	0			-	HGNC	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.45C>T	15.37:g.75722672G>A		Somatic	0	52	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	14	57.58		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.A15	ENST00000394947.3	37	c.45	CCDS10279.1	15																																																																																			-	NULL		0.567	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	protein_coding	OTTHUMT00000286469.1	G	NM_015477	-		75722672	-1	no_errors	ENST00000360439	ensembl	human	known	74_37	silent	SNP	0.998	A
MED13L	23389	genome.wustl.edu	37	12	116586415	116586416	+	Intron	DEL	TA	TA	-	rs556083996|rs10549054|rs3043743|rs140957424|rs199554727|rs113328518	byFrequency	TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:116586415_116586416delTA	ENST00000281928.3	-	3	517				MIR620_ENST00000385232.1_RNA|MED13L_ENST00000551197.1_Intron	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		tggagatatctatatatatata	0.248																																																	0								ENSG00000207967																																			MIR620	SO:0001627	intron_variant	0				HGNC	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.311-37098TA>-	12.37:g.116586425_116586426delTA		Somatic	0	28	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000281928.3	37	NULL	CCDS9177.1	12																																																																																			-	-		0.248	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR620	protein_coding	OTTHUMT00000403879.3	TA				116586416	-1	no_errors	ENST00000385232	ensembl	human	known	74_37	rna	DEL	0.000:0.000	-
CD163	9332	genome.wustl.edu	37	12	7633778	7633778	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:7633778G>T	ENST00000359156.4	-	15	3524	c.3322C>A	c.(3322-3324)Ctg>Atg	p.L1108M	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.L1108M|CD163_ENST00000396620.3_Missense_Mutation_p.L1141M|CD163_ENST00000541972.1_Missense_Mutation_p.L1096M	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1108					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ATTAGGTCCAGATCATCTGCA	0.468																																																	0								ENSG00000177575						130.0	123.0	125.0					12																	7633778		2203	4300	6503	CD163	SO:0001583	missense	0			-	HGNC	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3322C>A	12.37:g.7633778G>T	ENSP00000352071:p.Leu1108Met	Somatic	0	49	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.L1108M	ENST00000359156.4	37	c.3322	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781282	0.49891	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01369	5.07;5.01;4.97;5.01	5.28	3.4	0.38934	.	0.492611	0.15233	N	0.273302	T	0.02767	0.0083	L	0.27053	0.805	0.26626	N	0.97256	P;D;P	0.61080	0.736;0.989;0.877	B;P;P	0.59487	0.372;0.858;0.467	T	0.50947	-0.8767	10	0.41790	T	0.15	.	8.5593	0.33501	0.0861:0.1576:0.7562:0.0	.	1141;1108;1108	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	M	1108;1096;1141;1108	ENSP00000352071:L1108M;ENSP00000444071:L1096M;ENSP00000379863:L1141M;ENSP00000403885:L1108M	ENSP00000352071:L1108M	L	-	1	2	CD163	7525045	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	0.586000	0.23894	1.341000	0.45600	0.455000	0.32223	CTG	-	NULL		0.468	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	protein_coding	OTTHUMT00000399396.2	G	NM_004244, NM_203416	-		7633778	-1	no_errors	ENST00000359156	ensembl	human	known	74_37	missense	SNP	0.997	T
OPRM1	4988	genome.wustl.edu	37	6	154412167	154412167	+	Missense_Mutation	SNP	G	G	A	rs552231464		TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr6:154412167G>A	ENST00000330432.7	+	3	961	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	OPRM1_ENST00000428397.2_Missense_Mutation_p.A242T|OPRM1_ENST00000434900.2_Missense_Mutation_p.A335T|OPRM1_ENST00000360422.4_Missense_Mutation_p.A242T|OPRM1_ENST00000524163.1_Missense_Mutation_p.A242T|OPRM1_ENST00000435918.2_Missense_Mutation_p.A242T|OPRM1_ENST00000414028.2_Missense_Mutation_p.A242T|OPRM1_ENST00000518759.1_Missense_Mutation_p.A161T|OPRM1_ENST00000419506.2_Missense_Mutation_p.A242T|OPRM1_ENST00000452687.2_Missense_Mutation_p.A242T|OPRM1_ENST00000522236.1_Missense_Mutation_p.A142T|OPRM1_ENST00000522555.1_Missense_Mutation_p.A142T|OPRM1_ENST00000520708.1_Missense_Mutation_p.A142T|OPRM1_ENST00000229768.5_Missense_Mutation_p.A242T|OPRM1_ENST00000337049.4_Missense_Mutation_p.A242T	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	242					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TTTCATCTTCGCCTTCATTAT	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20826	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000112038						184.0	175.0	178.0					6																	154412167		2063	4227	6290	OPRM1	SO:0001583	missense	0			-	HGNC	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.724G>A	6.37:g.154412167G>A	ENSP00000328264:p.Ala242Thr	Somatic	0	68	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.A335T	ENST00000330432.7	37	c.1003	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905395	0.92107	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78717	0.4327	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.977;0.977;0.999;0.983;0.966;0.966;0.977;0.986;0.992;0.983;0.977	T	0.79514	-0.1772	10	0.87932	D	0	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	242;242;242;242;335;161;142;242;242;242;242;242	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	T	335;142;161;242;242;242;242;242;242;242;242;242;242;142;142	ENSP00000394624:A335T;ENSP00000430876:A142T;ENSP00000430260:A161T;ENSP00000328264:A242T;ENSP00000353598:A242T;ENSP00000411903:A242T;ENSP00000410497:A242T;ENSP00000229768:A242T;ENSP00000403549:A242T;ENSP00000430097:A242T;ENSP00000399359:A242T;ENSP00000413752:A242T;ENSP00000338381:A242T;ENSP00000429719:A142T;ENSP00000429373:A142T	ENSP00000229768:A242T	A	+	1	0	OPRM1	154453860	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	9.869000	0.99810	2.751000	0.94390	0.650000	0.86243	GCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.443	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	protein_coding	OTTHUMT00000042786.2	G	NM_000914	-		154412167	+1	no_errors	ENST00000434900	ensembl	human	known	74_37	missense	SNP	1.000	A
PPHLN1	51535	genome.wustl.edu	37	12	42835144	42835144	+	Missense_Mutation	SNP	G	G	A	rs199841802		TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:42835144G>A	ENST00000395568.2	+	10	1021	c.937G>A	c.(937-939)Ggg>Agg	p.G313R	PPHLN1_ENST00000337898.6_Missense_Mutation_p.G258R|PPHLN1_ENST00000358314.7_Missense_Mutation_p.G313R|PPHLN1_ENST00000317560.9_Missense_Mutation_p.G246R|PPHLN1_ENST00000449194.2_Missense_Mutation_p.G294R|PPHLN1_ENST00000256678.8_Missense_Mutation_p.G193R|PPHLN1_ENST00000395580.3_Missense_Mutation_p.G320R|PPHLN1_ENST00000432191.2_Missense_Mutation_p.G258R|PPHLN1_ENST00000549190.1_Missense_Mutation_p.G331R|PPHLN1_ENST00000552761.1_Missense_Mutation_p.G265R	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	313					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TGAAACTTTCGGGATGGTGGT	0.378													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18706	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000134283						163.0	157.0	159.0					12																	42835144		2203	4300	6503	PPHLN1	SO:0001583	missense	0			GMAF=0	HGNC	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.937G>A	12.37:g.42835144G>A	ENSP00000378935:p.Gly313Arg	Somatic	0	111	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	82	14.58	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G313R	ENST00000395568.2	37	c.937	CCDS31777.1	12	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	22.8	4.332608	0.81801	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000256678;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191	.	.	.	6.06	4.2	0.49525	.	0.231267	0.51477	N	0.000092	T	0.71005	0.3289	M	0.63428	1.95	0.53688	D	0.999973	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.997;1.0;1.0;0.997	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.998;1.0;1.0;1.0;1.0;1.0;0.956;0.927;0.997;0.998;0.944	T	0.71041	-0.4707	9	0.54805	T	0.06	-2.4173	11.278	0.49178	0.0656:0.0:0.8064:0.1281	.	246;193;239;258;246;258;313;294;313;265;320;331	F8WF16;F8W6A0;B7Z695;B7Z8L1;B7Z615;Q8NEY8-3;Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-6;Q8NEY8-2;F8W0Q9	.;.;.;.;.;.;PPHLN_HUMAN;.;.;.;.;.	R	331;320;258;313;313;193;294;265;246;258	.	ENSP00000256678:G193R	G	+	1	0	PPHLN1	41121411	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.656000	0.83736	0.856000	0.35383	0.655000	0.94253	GGG	-	NULL		0.378	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	PPHLN1	protein_coding	OTTHUMT00000404047.1	G	NM_201515	rs199841802		42835144	+1	no_errors	ENST00000395568	ensembl	human	known	74_37	missense	SNP	1.000	A
DIP2B	57609	genome.wustl.edu	37	12	51122461	51122461	+	Splice_Site	SNP	G	G	A			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:51122461G>A	ENST00000301180.5	+	30	3675	c.3641G>A	c.(3640-3642)aGt>aAt	p.S1214N		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1214						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGTCTCTGCAGGTAGGGATGG	0.517																																																	0								ENSG00000066084						92.0	76.0	82.0					12																	51122461		2203	4300	6503	DIP2B	SO:0001630	splice_region_variant	0			-	HGNC	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3641+1G>A	12.37:g.51122461G>A		Somatic	0	120	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	85	54.79	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.S1214N	ENST00000301180.5	37	c.3641	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.509985	0.96386	.	.	ENSG00000066084	ENST00000301180	T	0.43294	0.95	4.78	4.78	0.61160	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65405	-0.6176	10	0.62326	D	0.03	-12.1933	18.3929	0.90489	0.0:0.0:1.0:0.0	.	1214	Q9P265	DIP2B_HUMAN	N	1214	ENSP00000301180:S1214N	ENSP00000301180:S1214N	S	+	2	0	DIP2B	49408728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.665000	0.90641	0.655000	0.94253	AGT	-	pfam_AMP-dep_Synth/Lig		0.517	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	protein_coding	OTTHUMT00000404243.1	G	NM_173602	-	Missense_Mutation	51122461	+1	no_errors	ENST00000301180	ensembl	human	known	74_37	missense	SNP	1.000	A
IL36B	27177	genome.wustl.edu	37	2	113785508	113785508	+	Intron	SNP	G	G	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr2:113785508G>T	ENST00000259213.4	-	4	369				IL36B_ENST00000327407.2_Missense_Mutation_p.T149N	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta						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						GTAGAAGTTAGTGTTATTAGT	0.463																																																	0								ENSG00000136696						76.0	71.0	73.0					2																	113785508		2203	4300	6503	IL36B	SO:0001627	intron_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.261+1007C>A	2.37:g.113785508G>T		Somatic	0	113	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	80	19.19	Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1_alpha/beta,prints_IL-1_beta	p.T149N	ENST00000259213.4	37	c.446	CCDS2109.1	2	.	.	.	.	.	.	.	.	.	.	g	15.59	2.877619	0.51801	.	.	ENSG00000136696	ENST00000327407	T	0.22743	1.94	4.85	3.75	0.43078	.	.	.	.	.	T	0.41811	0.1175	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.10042	-1.0647	8	0.72032	D	0.01	.	8.9381	0.35713	0.1211:0.0:0.8789:0.0	.	149	Q9NZH7-2	.	N	149	ENSP00000328420:T149N	ENSP00000328420:T149N	T	-	2	0	IL36B	113501979	0.251000	0.23961	0.265000	0.24526	0.139000	0.21198	1.173000	0.31920	2.238000	0.73509	0.556000	0.70494	ACT	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1		0.463	IL36B-001	KNOWN	basic|CCDS	protein_coding	IL36B	protein_coding	OTTHUMT00000254110.1	G	NM_014438	-		113785508	-1	no_errors	ENST00000327407	ensembl	human	known	74_37	missense	SNP	0.032	T
CHRNA9	55584	genome.wustl.edu	37	4	40339262	40339262	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr4:40339262G>T	ENST00000310169.2	+	3	385	c.246G>T	c.(244-246)tgG>tgT	p.W82C		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	82					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)	CTTATTTGTGGATCCGCCAAA	0.488																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)												0								ENSG00000174343						105.0	82.0	90.0					4																	40339262		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.246G>T	4.37:g.40339262G>T	ENSP00000312663:p.Trp82Cys	Somatic	0	54	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	244	13.17	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.W82C	ENST00000310169.2	37	c.246	CCDS3459.1	4	.	.	.	.	.	.	.	.	.	.	G	18.60	3.660035	0.67586	.	.	ENSG00000174343	ENST00000310169	T	0.81078	-1.45	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93825	0.8025	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95158	0.8279	10	0.87932	D	0	.	20.1174	0.97942	0.0:0.0:1.0:0.0	.	82	Q9UGM1	ACHA9_HUMAN	C	82	ENSP00000312663:W82C	ENSP00000312663:W82C	W	+	3	0	CHRNA9	40034019	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	9.476000	0.97823	2.771000	0.95319	0.591000	0.81541	TGG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel		0.488	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA9	protein_coding	OTTHUMT00000216822.1	G		-		40339262	+1	no_errors	ENST00000310169	ensembl	human	known	74_37	missense	SNP	1.000	T
SIX5	147912	genome.wustl.edu	37	19	46265047	46265048	+	IGR	INS	-	-	TCCAGC	rs139434566|rs59054027		TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr19:46265047_46265048insTCCAGC	ENST00000317578.6	-	0	3318				AC074212.5_ENST00000559756.1_RNA|AC074212.3_ENST00000457052.2_In_Frame_Ins_p.453_453S>SSS	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5						lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCAAGGCGCCAtccagctccag	0.658																																																	0								ENSG00000237452																																			AC074212.3	SO:0001628	intergenic_variant	0				Clone_based_vega_gene	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196			19.37:g.46265048_46265053dupTCCAGC		Somatic	NA	NA	NA		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom	p.456in_frame_insSS	ENST00000317578.6	37	c.1356_1357	CCDS12673.1	19																																																																																			-	NULL		0.658	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000237452	protein_coding	OTTHUMT00000417341.3	-	NM_175875			46265048	+1	no_errors	ENST00000457052	ensembl	human	putative	74_37	in_frame_ins	INS	0.000:0.004	TCCAGC
SEC14L3	266629	genome.wustl.edu	37	22	30857444	30857444	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr22:30857444C>T	ENST00000215812.4	-	11	1024	c.934G>A	c.(934-936)Gcg>Acg	p.A312T	SEC14L3_ENST00000540910.1_Missense_Mutation_p.A235T|SEC14L3_ENST00000402286.1_Missense_Mutation_p.A235T|SEC14L3_ENST00000539629.1_Missense_Mutation_p.A253T|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A253T|SEC14L3_ENST00000415957.2_Missense_Mutation_p.A253T|SEC14L3_ENST00000403066.1_Missense_Mutation_p.A253T	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	312	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CCGATGTCCGCACCATCAGAT	0.607																																					Esophageal Squamous(108;290 1516 3584 23771 37333)												0								ENSG00000100012						56.0	51.0	53.0					22																	30857444		2203	4300	6503	SEC14L3	SO:0001583	missense	0			-	HGNC	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.934G>A	22.37:g.30857444C>T	ENSP00000215812:p.Ala312Thr	Somatic	0	61	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.A312T	ENST00000215812.4	37	c.934	CCDS13877.1	22	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596137	0.28445	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.52	4.49	0.54785	GOLD (2);	0.286036	0.38663	N	0.001608	T	0.45558	0.1348	M	0.75447	2.3	0.58432	D	0.999992	B;B	0.25667	0.131;0.068	B;B	0.22601	0.027;0.04	T	0.44967	-0.9293	10	0.46703	T	0.11	0.0087	15.3933	0.74767	0.1405:0.8594:0.0:0.0	.	235;312	E9PE57;Q9UDX4	.;S14L3_HUMAN	T	253;253;312;235;253;253;235	ENSP00000385941:A253T;ENSP00000401864:A253T;ENSP00000215812:A312T;ENSP00000385004:A235T;ENSP00000383896:A253T;ENSP00000444691:A253T;ENSP00000439752:A235T	ENSP00000215812:A312T	A	-	1	0	SEC14L3	29187444	0.155000	0.22806	0.003000	0.11579	0.258000	0.26162	3.522000	0.53480	1.310000	0.45006	0.655000	0.94253	GCG	-	superfamily_GOLD,pfscan_GOLD		0.607	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L3	protein_coding	OTTHUMT00000321950.4	C	NM_174975	-		30857444	-1	no_errors	ENST00000215812	ensembl	human	known	74_37	missense	SNP	0.072	T
MARCH4	57574	genome.wustl.edu	37	2	217234774	217234774	+	Silent	SNP	G	G	A			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr2:217234774G>A	ENST00000273067.4	-	1	1976	c.210C>T	c.(208-210)ccC>ccT	p.P70P		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	70	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCAAACCGGGGGGCTGGGGGT	0.697																																																	0								ENSG00000144583						4.0	5.0	5.0					2																	217234774		2076	4044	6120	MARCH4	SO:0001819	synonymous_variant	0			-	HGNC	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.210C>T	2.37:g.217234774G>A		Somatic	0	20	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	14	51.72	Q4KMN7|Q86WR8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.P70	ENST00000273067.4	37	c.210	CCDS33376.1	2																																																																																			-	NULL		0.697	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	protein_coding	OTTHUMT00000337272.2	G	NM_020814	-		217234774	-1	no_errors	ENST00000273067	ensembl	human	known	74_37	silent	SNP	1.000	A
CNTNAP2	26047	genome.wustl.edu	37	7	148113624	148113628	+	3'UTR	DEL	TAGTT	TAGTT	-	rs201865543|rs67834665|rs201342125|rs569195865	byFrequency	TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	TAGTT	TAGTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr7:148113624_148113628delTAGTT	ENST00000361727.3	+	0	5428_5432				CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTTCTTTTATAGTTTAGTTATAGC	0.317										HNSCC(39;0.1)				4930	0.984425	0.947	0.9899	5008	,	,		19570	1.0		0.999	False		,,,				2504	1.0																0								ENSG00000174469																																			CNTNAP2	SO:0001624	3_prime_UTR_variant	0				HGNC	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.*920TAGTT>-	7.37:g.148113629_148113633delTAGTT		Somatic	NA	NA	NA		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000361727.3	37	NULL	CCDS5889.1	7																																																																																			-	-		0.317	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	protein_coding	OTTHUMT00000327668.1	TAGTT				148113628	+1	no_errors	ENST00000463592	ensembl	human	known	74_37	rna	DEL	0.001:0.001:0.002:0.001:0.000	-
MT-CO2	4513	genome.wustl.edu	37	M	7974	7975	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chrM:7974_7975insT	ENST00000361739.1	+	1	389_390	c.389_390insT	c.(388-393)ccaggcfs	p.G131fs	MT-TW_ENST00000387382.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	131					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						ATTCCTAGAACCAGGCGACCTG	0.465																																																	0								ENSG00000198712																																			MT-CO2	SO:0001589	frameshift_variant	0				HGNC			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		Exception_encountered	M.37:g.7974_7975insT	ENSP00000354876:p.Gly131fs	Somatic	0	143	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	141	22.53	Q37526	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.G131fs	ENST00000361739.1	37	c.389_390		MT																																																																																			-	pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2		0.465	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	protein_coding		-	YP_003024029			7975	+1	no_errors	ENST00000361739	ensembl	human	known	74_37	frame_shift_ins	INS	NULL	T
OS9	10956	genome.wustl.edu	37	12	58112180	58112180	+	Silent	SNP	G	G	A			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:58112180G>A	ENST00000315970.7	+	11	1427	c.1386G>A	c.(1384-1386)cgG>cgA	p.R462R	OS9_ENST00000257966.8_Silent_p.R463R|OS9_ENST00000389142.5_Intron|OS9_ENST00000439210.2_Intron|OS9_ENST00000551035.1_Silent_p.R430R|OS9_ENST00000435406.2_Silent_p.R410R|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Silent_p.R256R|OS9_ENST00000552285.1_Silent_p.R462R|OS9_ENST00000389146.6_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	462					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GCATGGAGCGGGAACTGGAAA	0.587																																																	0								ENSG00000135506						106.0	104.0	105.0					12																	58112180		2203	4300	6503	OS9	SO:0001819	synonymous_variant	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1386G>A	12.37:g.58112180G>A		Somatic	0	24	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	85	49.10	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.R462	ENST00000315970.7	37	c.1386	CCDS31843.1	12																																																																																			-	NULL		0.587	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-		58112180	+1	no_errors	ENST00000315970	ensembl	human	known	74_37	silent	SNP	1.000	A
WIF1	11197	genome.wustl.edu	37	12	65449811	65449811	+	Splice_Site	SNP	G	G	A			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:65449811G>A	ENST00000286574.4	-	8	1296	c.922C>T	c.(922-924)Cct>Tct	p.P308S		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	308	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GGGTACTTACGCTTTGAACAG	0.468			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)			Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0								ENSG00000156076						207.0	156.0	173.0					12																	65449811		2203	4300	6503	WIF1	SO:0001630	splice_region_variant	0			-	HGNC	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.922+1C>T	12.37:g.65449811G>A		Somatic	0	49	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	21	52.27	Q6UXI1|Q8WVG4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh	p.P308S	ENST00000286574.4	37	c.922	CCDS8971.1	12	.	.	.	.	.	.	.	.	.	.	G	9.770	1.172309	0.21704	.	.	ENSG00000156076	ENST00000286574	T	0.28454	1.61	5.33	5.33	0.75918	Epidermal growth factor-like, type 3 (1);	0.064498	0.64402	D	0.000006	T	0.31734	0.0806	L	0.51422	1.61	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06409	-1.0828	9	.	.	.	.	19.4186	0.94712	0.0:0.0:1.0:0.0	.	308	Q9Y5W5	WIF1_HUMAN	S	308	ENSP00000286574:P308S	.	P	-	1	0	WIF1	63736078	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.678000	0.68153	2.671000	0.90904	0.555000	0.69702	CCT	-	pfscan_EG-like_dom		0.468	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIF1	protein_coding	OTTHUMT00000401258.2	G		-	Missense_Mutation	65449811	-1	no_errors	ENST00000286574	ensembl	human	known	74_37	missense	SNP	1.000	A
EPHB2	2048	genome.wustl.edu	37	1	23111560	23111560	+	Missense_Mutation	SNP	G	G	A	rs369702152		TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr1:23111560G>A	ENST00000400191.3	+	3	820	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	EPHB2_ENST00000544305.1_Missense_Mutation_p.V268I|EPHB2_ENST00000374632.3_Missense_Mutation_p.V268I|EPHB2_ENST00000374630.3_Missense_Mutation_p.V268I|EPHB2_ENST00000374627.1_Missense_Mutation_p.V262I	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	268	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GAATGGCACCGTCTGCCGAGG	0.622																																																	0								ENSG00000133216	G	ILE/VAL,ILE/VAL	2,4404		0,2,2201	37.0	39.0	38.0		802,802	0.6	1.0	1		38	0,8600		0,0,4300	no	missense,missense	EPHB2	NM_004442.6,NM_017449.3	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	268/988,268/987	23111560	2,13004	2203	4300	6503	EPHB2	SO:0001583	missense	0			-	HGNC	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.802G>A	1.37:g.23111560G>A	ENSP00000383053:p.Val268Ile	Somatic	0	96	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	9	80.00	O43477|Q5T0U6|Q5T0U7|Q5T0U8	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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V268I	ENST00000400191.3	37	c.802		1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155581	0.38021	4.54E-4	0.0	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	5.12	0.611	0.17586	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.316226	0.29087	N	0.013192	T	0.09113	0.0225	L	0.34521	1.04	0.26244	N	0.978824	B;B;B;B	0.31989	0.164;0.35;0.037;0.013	B;B;B;B	0.31442	0.13;0.06;0.06;0.036	T	0.28004	-1.0057	10	0.28530	T	0.3	.	8.872	0.35323	0.3648:0.0:0.6352:0.0	.	268;268;286;268	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	I	268;268;268;268;268;262	ENSP00000444174:V268I;ENSP00000363761:V268I;ENSP00000383053:V268I;ENSP00000363763:V268I;ENSP00000363758:V262I	ENSP00000363755:V268I	V	+	1	0	EPHB2	22984147	0.000000	0.05858	0.993000	0.49108	0.991000	0.79684	0.542000	0.23222	0.202000	0.20498	0.460000	0.39030	GTC	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom		0.622	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	protein_coding	OTTHUMT00000008060.2	G	NM_017449	-		23111560	+1	no_errors	ENST00000400191	ensembl	human	known	74_37	missense	SNP	0.961	A
GPR37	2861	genome.wustl.edu	37	7	124404542	124404542	+	Silent	SNP	C	C	A			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr7:124404542C>A	ENST00000303921.2	-	1	1139	c.489G>T	c.(487-489)ggG>ggT	p.G163G		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	163					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCTGGCTACGCCCGGAAATGC	0.597																																																	0								ENSG00000170775						59.0	69.0	66.0					7																	124404542		2203	4300	6503	GPR37	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.489G>T	7.37:g.124404542C>A		Somatic	0	59	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	30	42.31	A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.G163	ENST00000303921.2	37	c.489	CCDS5792.1	7																																																																																			-	NULL		0.597	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	protein_coding	OTTHUMT00000347873.1	C	NM_005302	-		124404542	-1	no_errors	ENST00000303921	ensembl	human	known	74_37	silent	SNP	0.019	A
TTC23	64927	genome.wustl.edu	37	15	99674046	99674047	+	IGR	INS	-	-	TTCTGTTATAGCCTAAG	rs34611478|rs376092037|rs11269259	byFrequency	TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr15:99674046_99674047insTTCTGTTATAGCCTAAG	ENST00000394132.2	-	0	3849				SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_3'UTR|SYNM_ENST00000336292.6_3'UTR			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23											endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGAATGCCCTTTTCTGGAGTGG	0.465														1385	0.276558	0.5333	0.2608	5008	,	,		21485	0.0992		0.2127	False		,,,				2504	0.1892																0								ENSG00000182253																																			SYNM	SO:0001628	intergenic_variant	0				HGNC		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344		15.37:g.99674046_99674047insTTCTGTTATAGCCTAAG		Somatic	NA	NA	NA		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000394132.2	37	NULL	CCDS10379.2	15																																																																																			-	-		0.465	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNM	protein_coding	OTTHUMT00000303953.2	-	NM_022905			99674047	+1	no_errors	ENST00000558420	ensembl	human	known	74_37	rna	INS	0.000:0.001	TTCTGTTATAGCCTAAG
FBXL4	26235	genome.wustl.edu	37	6	99374398	99374398	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr6:99374398G>T	ENST00000369244.2	-	4	895	c.467C>A	c.(466-468)gCt>gAt	p.A156D	FBXL4_ENST00000229971.1_Missense_Mutation_p.A156D	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	156					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TGCAGAACAAGCGAGAATTCT	0.388																																																	0								ENSG00000112234						93.0	90.0	91.0					6																	99374398		2203	4300	6503	FBXL4	SO:0001583	missense	0			-	HGNC	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.467C>A	6.37:g.99374398G>T	ENSP00000358247:p.Ala156Asp	Somatic	0	56	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.A156D	ENST00000369244.2	37	c.467	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620757	0.87460	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.27256	1.68;1.68	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.83774	2.66	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56353	-0.7993	10	0.87932	D	0	.	19.8176	0.96576	0.0:0.0:1.0:0.0	.	156	Q9UKA2	FBXL4_HUMAN	D	156	ENSP00000358247:A156D;ENSP00000229971:A156D	ENSP00000229971:A156D	A	-	2	0	FBXL4	99481119	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.420000	0.97426	2.765000	0.95021	0.650000	0.86243	GCT	-	NULL		0.388	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	protein_coding	OTTHUMT00000041587.2	G		-		99374398	-1	no_errors	ENST00000229971	ensembl	human	known	74_37	missense	SNP	1.000	T
ARGLU1	55082	genome.wustl.edu	37	13	107196174	107196174	+	3'UTR	DEL	A	A	-	rs561134219|rs398024313|rs11349875	byFrequency	TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr13:107196174delA	ENST00000400198.3	-	0	1236				ARGLU1_ENST00000472226.1_5'UTR	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAGTGGAAGGAAAAAAAAAAA	0.313													|||unknown(HR)	2672	0.533546	0.4894	0.5504	5008	,	,		14611	0.375		0.665	False		,,,				2504	0.6094																0								ENSG00000134884																																			ARGLU1	SO:0001624	3_prime_UTR_variant	0				HGNC	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.*170T>-	13.37:g.107196174delA		Somatic	0	11	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	B4E0Y3|Q5T257|Q6IQ34	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000400198.3	37	NULL	CCDS41906.1	13																																																																																			-	-		0.313	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGLU1	protein_coding	OTTHUMT00000045727.1	A	NM_018011			107196174	-1	no_errors	ENST00000472226	ensembl	human	known	74_37	rna	DEL	0.001	-
LINC00969	440993	genome.wustl.edu	37	3	195412985	195412985	+	lincRNA	SNP	C	C	G	rs74948728	byFrequency	TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr3:195412985C>G	ENST00000445430.1	+	0	4182									long intergenic non-protein coding RNA 969																		CTGGGCACAGCTGTTAAATAA	0.373																																																	0								ENSG00000242086																																			LINC00969			0			-	HGNC	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195412985C>G		Somatic	0	20	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			-	-		0.373	LINC00969-038	KNOWN	basic	lincRNA	LINC00969	lincRNA	OTTHUMT00000341951.1	C		rs74948728		195412985	+1	no_errors	ENST00000414625	ensembl	human	known	74_37	rna	SNP	0.045	G
CNPY2	10330	genome.wustl.edu	37	12	56708671	56708671	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:56708671G>C	ENST00000273308.4	-	3	708	c.168C>G	c.(166-168)ttC>ttG	p.F56L	CNPY2_ENST00000551720.1_5'UTR|PAN2_ENST00000549090.1_5'Flank|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.F56L|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	56	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						GATTGATCCGGAAAGATCCCA	0.502																																																	0								ENSG00000257727						116.0	104.0	108.0					12																	56708671		2203	4300	6503	CNPY2	SO:0001583	missense	0			-	HGNC	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.168C>G	12.37:g.56708671G>C	ENSP00000273308:p.Phe56Leu	Somatic	0	73	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	561	12.75	B2R7B9|Q9UHE9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB	p.F56L	ENST00000273308.4	37	c.168	CCDS8914.1	12	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785540	0.90282	.	.	ENSG00000144785;ENSG00000144785;ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000547423;ENST00000548360;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.51	4.4	0.53042	Saposin B (1);	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	M	0.85373	2.75	0.80722	D	1	D;D	0.67145	0.996;0.99	D;P	0.77557	0.99;0.908	T	0.60073	-0.7334	10	0.52906	T	0.07	-7.7729	4.9487	0.14002	0.2726:0.0:0.7274:0.0	.	56;56	Q9Y2B0-2;Q9Y2B0	.;CNPY2_HUMAN	L	56;56;56;56;56;4	ENSP00000446743:F56L;ENSP00000446506:F56L;ENSP00000447042:F56L;ENSP00000273308:F56L;ENSP00000448809:F56L;ENSP00000446784:F4L	ENSP00000273308:F56L	F	-	3	2	RP11-977G19.10;CNPY2	54994938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.743000	0.55104	2.764000	0.94973	0.655000	0.94253	TTC	-	pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB		0.502	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY2	protein_coding	OTTHUMT00000408546.1	G	NM_014255	-		56708671	-1	no_errors	ENST00000273308	ensembl	human	known	74_37	missense	SNP	1.000	C
NUTM2B	729262	genome.wustl.edu	37	10	81465826	81465826	+	Silent	SNP	C	C	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr10:81465826C>T	ENST00000429828.1	+	2	794	c.411C>T	c.(409-411)acC>acT	p.T137T	NUTM2B_ENST00000372321.1_Silent_p.T70T|NUTM2B_ENST00000448135.1_Silent_p.T137T|RP11-119F19.2_ENST00000601369.1_RNA|RP11-119F19.2_ENST00000596088.1_RNA|RP11-119F19.2_ENST00000600376.1_RNA	NM_001278495.1	NP_001265424.1	A6NNL0	NTM2B_HUMAN	NUT family member 2B	137																	CGGGCGTGACCGCGAACCCTG	0.637																																																	0								ENSG00000188199																																			NUTM2B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS60574.1	10q22.3	2014-08-13	2013-03-14	2013-03-14	ENSG00000188199	ENSG00000188199			23445	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member B"""	FAM22B			Standard	NM_001278495		Approved	bA119F19.1		A6NNL0	OTTHUMG00000018572	ENST00000429828.1:c.411C>T	10.37:g.81465826C>T		Somatic	0	44	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A6NM73	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.T137	ENST00000429828.1	37	c.411		10																																																																																			-	NULL		0.637	NUTM2B-201	KNOWN	basic|appris_principal	protein_coding	NUTM2B	protein_coding		C	NG_012780	-		81465826	+1	no_errors	ENST00000429828	ensembl	human	known	74_37	silent	SNP	0.000	T
AC021818.1	0	genome.wustl.edu	37	15	70077754	70077763	+	RNA	DEL	TGTGTGTGTG	TGTGTGTGTG	-	rs140198807|rs57525529		TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	TGTGTGTGTG	TGTGTGTGTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr15:70077754_70077763delTGTGTGTGTG	ENST00000401139.1	-	0	80_89																											actcataggatgtgtgtgtgtgtgtgtgtg	0.414																																																	0								ENSG00000215958																																			AC021818.1			0				Clone_based_ensembl_gene																													15.37:g.70077764_70077773delTGTGTGTGTG		Somatic	NA	NA	NA		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000401139.1	37	NULL		15																																																																																			-	-		0.414	AC021818.1-201	NOVEL	basic	miRNA	ENSG00000215958	miRNA		TGTGTGTGTG				70077763	-1	no_errors	ENST00000401139	ensembl	human	novel	74_37	rna	DEL	0.145:0.176:0.181:0.185:0.189:0.192:0.194:0.195:0.195:0.195	-
HECTD4	283450	genome.wustl.edu	37	12	112601934	112601934	+	Missense_Mutation	SNP	C	C	T	rs375330854		TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:112601934C>T	ENST00000430131.2	-	72	12559	c.11414G>A	c.(11413-11415)cGg>cAg	p.R3805Q	HECTD4_ENST00000550722.1_Missense_Mutation_p.R4081Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.R4055Q			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3805	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTGCCGGCCCCGGCTGCACAG	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16700	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000173064	C	GLN/ARG	3,4157		0,3,2077	22.0	29.0	26.0		12164	3.3	0.9	12		26	0,8380		0,0,4190	no	missense	C12orf51	NM_001109662.2	43	0,3,6267	TT,TC,CC		0.0,0.0721,0.0239	benign	4055/4247	112601934	3,12537	2080	4190	6270	HECTD4	SO:0001583	missense	0			-	HGNC	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11414G>A	12.37:g.112601934C>T	ENSP00000404379:p.Arg3805Gln	Somatic	0	77	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	35	46.15	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.R4055Q	ENST00000430131.2	37	c.12164		12	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040308	0.35989	7.21E-4	0.0	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.42131	0.98;0.98;0.98	5.17	3.33	0.38152	HECT (4);	.	.	.	.	T	0.21227	0.0511	N	0.11201	0.11	0.34442	D	0.699742	B	0.32507	0.373	B	0.23275	0.045	T	0.23119	-1.0197	9	0.56958	D	0.05	.	9.0645	0.36455	0.0:0.7731:0.0:0.2269	.	3805	Q9Y4D8	K0614_HUMAN	Q	4055;3805;4081;270	ENSP00000366783:R4055Q;ENSP00000404379:R3805Q;ENSP00000449784:R4081Q	ENSP00000366783:R4055Q	R	-	2	0	C12orf51	111086317	0.998000	0.40836	0.900000	0.35374	0.940000	0.58332	3.700000	0.54786	0.559000	0.29153	0.655000	0.94253	CGG	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.672	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		C	NM_173813	-		112601934	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	SNP	0.985	T
FLG	2312	genome.wustl.edu	37	1	152275633	152275633	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr1:152275633G>T	ENST00000368799.1	-	3	11764	c.11729C>A	c.(11728-11730)gCc>gAc	p.A3910D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3910	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACATGACTGGCTGTATCGCG	0.502									Ichthyosis																																								0								ENSG00000143631						108.0	106.0	107.0					1																	152275633		2203	4300	6503	FLG	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11729C>A	1.37:g.152275633G>T	ENSP00000357789:p.Ala3910Asp	Somatic	0	120	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	54	44.33	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.A3910D	ENST00000368799.1	37	c.11729	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	6.103	0.387337	0.11581	.	.	ENSG00000143631	ENST00000368799	T	0.04015	3.73	2.28	-4.56	0.03431	.	.	.	.	.	T	0.01254	0.0041	L	0.49126	1.545	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.41448	-0.9508	9	0.36615	T	0.2	.	5.4534	0.16578	0.0:0.1917:0.475:0.3333	.	3910	P20930	FILA_HUMAN	D	3910	ENSP00000357789:A3910D	ENSP00000357789:A3910D	A	-	2	0	FLG	150542257	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.202000	0.00142	-1.818000	0.01218	-1.011000	0.02470	GCC	-	NULL		0.502	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016	-		152275633	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	SNP	0.000	T
HNRNPUL1	11100	genome.wustl.edu	37	19	41808550	41808584	+	Splice_Site	DEL	GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	-	rs374633038|rs549016584		TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr19:41808550_41808584delGGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	ENST00000392006.3	+	12	1860_1875	c.1687_1702delGGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	c.(1687-1704)gggcacttccttcctcct>ct	p.GHFLPP563fs	HNRNPUL1_ENST00000378215.4_Splice_Site_p.GHFLPP449fs|HNRNPUL1_ENST00000602130.1_Splice_Site_p.GHFLPP563fs|HNRNPUL1_ENST00000352456.3_Splice_Site_p.GHFLPP463fs|HNRNPUL1_ENST00000595018.1_Splice_Site_p.GHFLPP463fs|HNRNPUL1_ENST00000593587.1_Splice_Site_p.GHFLPP463fs|HNRNPUL1_ENST00000263367.3_Splice_Site_p.GHFLPP474fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	563	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GTTCTCTTTGGGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGCCAGATGTTGG	0.536																																																	0								ENSG00000105323																																			HNRNPUL1	SO:0001630	splice_region_variant	0				HGNC	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1688-1GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC>-	19.37:g.41808550_41808584delGGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC		Somatic	NA	NA	NA		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.D582fs	ENST00000392006.3	37	c.1708_1702	CCDS12576.1	19																																																																																			-	NULL		0.536	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	protein_coding	OTTHUMT00000463406.1	GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC	NM_144732, NM_007040		Frame_Shift_Del	41808584	+1	no_errors	ENST00000392006	ensembl	human	known	74_37	frame_shift_del	DEL	0.003:0.001:0.000:0.000:0.001:0.026:0.025:0.008:0.002:0.003:0.008:0.026:0.157:0.181:0.241:0.267:0.693:0.762:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.997:0.003:0.743:0.991:0.988:1.000	-
RGS2	5997	genome.wustl.edu	37	1	192780338	192780339	+	Intron	DEL	AA	AA	-	rs10607546|rs398053648|rs756409|rs397864042	byFrequency	TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr1:192780338_192780339delAA	ENST00000235382.5	+	4	472					NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2						brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						AAAGTGAAACAAAGTAATCAAG	0.386														1606	0.320687	0.3101	0.2205	5008	,	,		17569	0.4732		0.2734	False		,,,				2504	0.2975				Pancreas(71;51 2183 4981)												0								ENSG00000116741																																			RGS2	SO:0001627	intron_variant	0				HGNC	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.441+61AA>-	1.37:g.192780338_192780339delAA		Somatic	0	8	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	Q6I9U5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000235382.5	37	NULL	CCDS1377.1	1																																																																																			-	-		0.386	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS2	protein_coding	OTTHUMT00000086396.1	AA	NM_002923			192780339	+1	no_errors	ENST00000464302	ensembl	human	known	74_37	rna	DEL	0.034:0.025	-
KEL	3792	genome.wustl.edu	37	7	142651354	142651354	+	Missense_Mutation	SNP	G	G	C	rs8176059	byFrequency	TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr7:142651354G>C	ENST00000355265.2	-	8	1315	c.841C>G	c.(841-843)Cgg>Ggg	p.R281G	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	281			R -> Q (in KEL21/Kp(c) antigen).|R -> W (in KEL3/Kp(a) antigen; dbSNP:rs8176059). {ECO:0000269|Ref.3}.		vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGAACAGCCGTGAAGTGATG	0.567																																																	0			GRCh37	CM962684	KEL	M	rs8176059	ENSG00000197993						74.0	78.0	77.0					7																	142651354		2203	4300	6503	KEL	SO:0001583	missense	0			-	HGNC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.841C>G	7.37:g.142651354G>C	ENSP00000347409:p.Arg281Gly	Somatic	0	58	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R281G	ENST00000355265.2	37	c.841	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	G	5.819	0.335433	0.11013	.	.	ENSG00000197993	ENST00000355265	T	0.74526	-0.85	6.07	-1.83	0.07833	Peptidase M13 (1);	1.168140	0.06385	N	0.715978	T	0.66597	0.2805	L	0.36672	1.1	0.09310	N	1	P	0.35468	0.503	B	0.32583	0.148	T	0.58346	-0.7652	10	0.52906	T	0.07	-7.2575	16.4531	0.83998	0.0:0.0:0.3244:0.6756	.	281	P23276	KELL_HUMAN	G	281	ENSP00000347409:R281G	ENSP00000347409:R281G	R	-	1	2	KEL	142361476	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.025000	0.13577	-0.151000	0.11176	-0.485000	0.04761	CGG	-	pfam_Peptidase_M13_N		0.567	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	protein_coding	OTTHUMT00000347671.2	G	NM_000420	-		142651354	-1	no_errors	ENST00000355265	ensembl	human	known	74_37	missense	SNP	0.000	C
LINC00969	440993	genome.wustl.edu	37	3	195412992	195412992	+	lincRNA	SNP	A	A	G	rs78973672	byFrequency	TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr3:195412992A>G	ENST00000445430.1	+	0	4189									long intergenic non-protein coding RNA 969																		CAGCTGTTAAATAAAATATAA	0.363																																																	0								ENSG00000242086																																			LINC00969			0			-	HGNC	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195412992A>G		Somatic	0	17	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			-	-		0.363	LINC00969-038	KNOWN	basic	lincRNA	LINC00969	lincRNA	OTTHUMT00000341951.1	A		rs78973672		195412992	+1	no_errors	ENST00000414625	ensembl	human	known	74_37	rna	SNP	0.034	G
METTL21B	25895	genome.wustl.edu	37	12	58166903	58166903	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3LW-01A-21D-A21Q-09	TCGA-DX-A3LW-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0	9dd9bf7a-a5e2-41fc-8295-6d71a58014a6	g.chr12:58166903C>T	ENST00000300209.8	+	2	406	c.281C>T	c.(280-282)gCg>gTg	p.A94V	METTL21B_ENST00000333012.5_Missense_Mutation_p.A94V|RP11-571M6.15_ENST00000471530.1_Silent_p.S31S|RP11-571M6.15_ENST00000553083.1_3'UTR|METTL21B_ENST00000551420.1_5'UTR|METTL1_ENST00000257848.7_5'Flank|METTL1_ENST00000548681.1_5'Flank|METTL1_ENST00000324871.7_5'Flank|METTL21B_ENST00000548256.1_Missense_Mutation_p.A52V|METTL21B_ENST00000552307.1_Intron|AC025165.1_ENST00000582738.1_RNA	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	94						cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						ATCTTGGCAGCGCTGCAGGGT	0.572																																																	0								ENSG00000123427						109.0	114.0	112.0					12																	58166903		2203	4300	6503	METTL21B	SO:0001583	missense	0			-	HGNC	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.281C>T	12.37:g.58166903C>T	ENSP00000300209:p.Ala94Val	Somatic	0	105	0.00		0.6636889547643554	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	104	554	15.71	Q9H749|Q9Y3W2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nicotinamide_N-MeTfrase-like	p.A94V	ENST00000300209.8	37	c.281	CCDS8957.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.100017	0.97281	.	.	ENSG00000123427;ENSG00000123427;ENSG00000123427;ENSG00000257921	ENST00000548256;ENST00000300209;ENST00000333012;ENST00000546504	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.27	5.27	0.74061	.	0.072586	0.53938	D	0.000059	T	0.77896	0.4199	M	0.90542	3.125	0.51482	D	0.99992	D;D	0.89917	0.999;1.0	D;D	0.75020	0.947;0.985	T	0.81556	-0.0879	10	0.54805	T	0.06	.	18.0001	0.89196	0.0:1.0:0.0:0.0	.	94;94	Q96AZ1;Q96AZ1-2	MT21B_HUMAN;.	V	52;94;94;23	ENSP00000447718:A52V;ENSP00000300209:A94V;ENSP00000327425:A94V;ENSP00000449544:A23V	ENSP00000300209:A94V	A	+	2	0	METTL21B;RP11-571M6.15	56453170	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.022000	0.64078	2.630000	0.89119	0.555000	0.69702	GCG	-	pfam_Nicotinamide_N-MeTfrase-like		0.572	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21B	protein_coding	OTTHUMT00000409268.1	C	NM_015433	-		58166903	+1	no_errors	ENST00000300209	ensembl	human	known	74_37	missense	SNP	1.000	T
