#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CNTLN	54875	genome.wustl.edu	37	9	17486986	17486986	+	Splice_Site	SNP	G	G	A	rs375464530		TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr9:17486986G>A	ENST00000380647.3	+	25	4125		c.e25-1		CNTLN_ENST00000425824.1_Splice_Site|CNTLN_ENST00000262360.5_Splice_Site			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein						centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.?(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTTTTCTTCAGGAAATTGAAA	0.274																																						dbGAP											1	Unknown(1)	breast(1)											50.0	48.0	49.0					9																	17486986		1788	4057	5845	-	-	-	SO:0001630	splice_region_variant	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.4042-1G>A	9.37:g.17486986G>A			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Splice_Site	SNP	-	e25-1	ENST00000380647.3	37	c.4042-1	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223703	0.58668	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTLN	17476986	1.000000	0.71417	0.997000	0.53966	0.495000	0.33615	6.778000	0.75043	2.941000	0.99782	0.655000	0.94253	.	CNTLN	-	-	ENSG00000044459		0.274	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	125	0.00	0	G	NM_017738	Intron	17486986	17486986	+1	no_errors	ENST00000380647	ensembl	human	known	69_37n	splice_site	88	22.81	26	SNP	1.000	A
CNTLN	54875	genome.wustl.edu	37	9	17486986	17486986	+	Splice_Site	SNP	G	G	A	rs375464530		TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr9:17486986G>A	ENST00000380647.3	+	25	4125		c.e25-1		CNTLN_ENST00000425824.1_Splice_Site|CNTLN_ENST00000262360.5_Splice_Site			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein						centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.?(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTTTTCTTCAGGAAATTGAAA	0.274																																						dbGAP											1	Unknown(1)	breast(1)											50.0	48.0	49.0					9																	17486986		1788	4057	5845	-	-	-	SO:0001630	splice_region_variant	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.4042-1G>A	9.37:g.17486986G>A			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Splice_Site	SNP	-	e25-1	ENST00000380647.3	37	c.4042-1	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223703	0.58668	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTLN	17476986	1.000000	0.71417	0.997000	0.53966	0.495000	0.33615	6.778000	0.75043	2.941000	0.99782	0.655000	0.94253	.	CNTLN	-	-	ENSG00000044459		0.274	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	164	0.00	0	G	NM_017738	Intron	17486986	17486986	+1	no_errors	ENST00000380647	ensembl	human	known	69_37n	splice_site	88	22.81	26	SNP	1.000	A
DCAF5	8816	genome.wustl.edu	37	14	69520662	69520662	+	Missense_Mutation	SNP	T	T	A	rs562028591		TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr14:69520662T>A	ENST00000341516.5	-	9	2888	c.2741A>T	c.(2740-2742)cAt>cTt	p.H914L	DCAF5_ENST00000554215.1_Missense_Mutation_p.H832L|DCAF5_ENST00000557386.1_Missense_Mutation_p.H913L|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000556847.1_Missense_Mutation_p.H832L	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	914					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.H914L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ACTGTGGCCATGAACAGCCCT	0.463																																						dbGAP											1	Substitution - Missense(1)	breast(1)											78.0	83.0	81.0					14																	69520662		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2741A>T	14.37:g.69520662T>A	ENSP00000341351:p.His914Leu		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H914L	ENST00000341516.5	37	c.2741	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	T	11.02	1.515813	0.27123	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.69435	-0.4;-0.23;-0.23;0.22	5.24	4.09	0.47781	.	0.193775	0.36932	N	0.002336	T	0.51041	0.1651	N	0.24115	0.695	0.80722	D	1	B;B	0.29037	0.231;0.148	B;B	0.28232	0.087;0.04	T	0.52177	-0.8610	10	0.72032	D	0.01	-6.9054	9.853	0.41068	0.0:0.0775:0.0:0.9225	.	913;914	G3V4J7;Q96JK2	.;DCAF5_HUMAN	L	914;832;832;913	ENSP00000341351:H914L;ENSP00000451551:H832L;ENSP00000452052:H832L;ENSP00000451845:H913L	ENSP00000341351:H914L	H	-	2	0	DCAF5	68590415	0.991000	0.36638	0.998000	0.56505	0.851000	0.48451	1.884000	0.39668	1.008000	0.39264	-0.441000	0.05720	CAT	DCAF5	-	NULL	ENSG00000139990		0.463	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	40	0.00	0	T	NM_003861		69520662	69520662	-1	no_errors	ENST00000341516	ensembl	human	known	69_37n	missense	124	26.19	44	SNP	0.992	A
DCAF5	8816	genome.wustl.edu	37	14	69520662	69520662	+	Missense_Mutation	SNP	T	T	A	rs562028591		TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr14:69520662T>A	ENST00000341516.5	-	9	2888	c.2741A>T	c.(2740-2742)cAt>cTt	p.H914L	DCAF5_ENST00000554215.1_Missense_Mutation_p.H832L|DCAF5_ENST00000557386.1_Missense_Mutation_p.H913L|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000556847.1_Missense_Mutation_p.H832L	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	914					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.H914L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ACTGTGGCCATGAACAGCCCT	0.463																																						dbGAP											1	Substitution - Missense(1)	breast(1)											78.0	83.0	81.0					14																	69520662		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2741A>T	14.37:g.69520662T>A	ENSP00000341351:p.His914Leu		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H914L	ENST00000341516.5	37	c.2741	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	T	11.02	1.515813	0.27123	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.69435	-0.4;-0.23;-0.23;0.22	5.24	4.09	0.47781	.	0.193775	0.36932	N	0.002336	T	0.51041	0.1651	N	0.24115	0.695	0.80722	D	1	B;B	0.29037	0.231;0.148	B;B	0.28232	0.087;0.04	T	0.52177	-0.8610	10	0.72032	D	0.01	-6.9054	9.853	0.41068	0.0:0.0775:0.0:0.9225	.	913;914	G3V4J7;Q96JK2	.;DCAF5_HUMAN	L	914;832;832;913	ENSP00000341351:H914L;ENSP00000451551:H832L;ENSP00000452052:H832L;ENSP00000451845:H913L	ENSP00000341351:H914L	H	-	2	0	DCAF5	68590415	0.991000	0.36638	0.998000	0.56505	0.851000	0.48451	1.884000	0.39668	1.008000	0.39264	-0.441000	0.05720	CAT	DCAF5	-	NULL	ENSG00000139990		0.463	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	64	0.00	0	T	NM_003861		69520662	69520662	-1	no_errors	ENST00000341516	ensembl	human	known	69_37n	missense	124	26.19	44	SNP	0.992	A
DCUN1D2	55208	genome.wustl.edu	37	13	114138226	114138226	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr13:114138226G>A	ENST00000478244.1	-	2	431	c.149C>T	c.(148-150)tCg>tTg	p.S50L	DCUN1D2_ENST00000375399.2_Missense_Mutation_p.S50L|DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000460318.1_5'UTR	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	50								p.S50L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			CCTGTGGAGCGAGTCTGGGTT	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											183.0	157.0	166.0					13																	114138226		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.149C>T	13.37:g.114138226G>A	ENSP00000417706:p.Ser50Leu		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	pfam_PONY_dom,superfamily_UBA-like	p.S50L	ENST00000478244.1	37	c.149	CCDS32013.1	13	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.346044	0.01266	.	.	ENSG00000150401	ENST00000478244;ENST00000375399;ENST00000465938;ENST00000439909	.	.	.	4.54	0.0396	0.14205	.	0.515173	0.18468	N	0.140321	T	0.11153	0.0272	N	0.01168	-0.975	0.22954	N	0.998519	B	0.02656	0.0	B	0.01281	0.0	T	0.28618	-1.0038	9	0.27785	T	0.31	.	7.5533	0.27810	0.7428:0.0:0.2572:0.0	.	50	Q6PH85	DCNL2_HUMAN	L	50;50;35;35	.	ENSP00000364548:S50L	S	-	2	0	DCUN1D2	113186227	0.632000	0.27172	0.000000	0.03702	0.043000	0.13939	1.520000	0.35899	0.058000	0.16222	0.655000	0.94253	TCG	DCUN1D2	-	NULL	ENSG00000150401		0.567	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D2	HGNC	protein_coding	OTTHUMT00000045938.4	26	0.00	0	G	NM_018185		114138226	114138226	-1	no_errors	ENST00000478244	ensembl	human	known	69_37n	missense	61	15.28	11	SNP	0.975	A
DCUN1D2	55208	genome.wustl.edu	37	13	114138226	114138226	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr13:114138226G>A	ENST00000478244.1	-	2	431	c.149C>T	c.(148-150)tCg>tTg	p.S50L	DCUN1D2_ENST00000375399.2_Missense_Mutation_p.S50L|DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000460318.1_5'UTR	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	50								p.S50L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			CCTGTGGAGCGAGTCTGGGTT	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											183.0	157.0	166.0					13																	114138226		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.149C>T	13.37:g.114138226G>A	ENSP00000417706:p.Ser50Leu		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	pfam_PONY_dom,superfamily_UBA-like	p.S50L	ENST00000478244.1	37	c.149	CCDS32013.1	13	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.346044	0.01266	.	.	ENSG00000150401	ENST00000478244;ENST00000375399;ENST00000465938;ENST00000439909	.	.	.	4.54	0.0396	0.14205	.	0.515173	0.18468	N	0.140321	T	0.11153	0.0272	N	0.01168	-0.975	0.22954	N	0.998519	B	0.02656	0.0	B	0.01281	0.0	T	0.28618	-1.0038	9	0.27785	T	0.31	.	7.5533	0.27810	0.7428:0.0:0.2572:0.0	.	50	Q6PH85	DCNL2_HUMAN	L	50;50;35;35	.	ENSP00000364548:S50L	S	-	2	0	DCUN1D2	113186227	0.632000	0.27172	0.000000	0.03702	0.043000	0.13939	1.520000	0.35899	0.058000	0.16222	0.655000	0.94253	TCG	DCUN1D2	-	NULL	ENSG00000150401		0.567	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D2	HGNC	protein_coding	OTTHUMT00000045938.4	38	0.00	0	G	NM_018185		114138226	114138226	-1	no_errors	ENST00000478244	ensembl	human	known	69_37n	missense	61	15.28	11	SNP	0.975	A
DDB1	1642	genome.wustl.edu	37	11	61093120	61093120	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr11:61093120C>T	ENST00000301764.7	-	6	1122	c.725G>A	c.(724-726)gGt>gAt	p.G242D	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	242	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.G242D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTATTTGTCACCATTGTGATA	0.483								Nucleotide excision repair (NER)																														dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	100.0	103.0					11																	61093120		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.725G>A	11.37:g.61093120C>T	ENSP00000301764:p.Gly242Asp		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.G242D	ENST00000301764.7	37	c.725	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121417	0.77436	.	.	ENSG00000167986	ENST00000301764;ENST00000535174;ENST00000541513	T;T;T	0.37235	1.21;1.21;1.21	5.27	5.27	0.74061	.	0.103901	0.64402	D	0.000003	T	0.52693	0.1750	M	0.64404	1.975	0.80722	D	1	B;P;P	0.46859	0.297;0.547;0.885	B;P;P	0.59424	0.315;0.565;0.857	T	0.41980	-0.9478	10	0.09590	T	0.72	-13.8792	18.8894	0.92392	0.0:1.0:0.0:0.0	.	242;242;242	F5GY55;B7Z2A1;Q16531	.;.;DDB1_HUMAN	D	242;25;57	ENSP00000301764:G242D;ENSP00000446044:G25D;ENSP00000442660:G57D	ENSP00000301764:G242D	G	-	2	0	DDB1	60849696	1.000000	0.71417	0.787000	0.31911	0.992000	0.81027	7.685000	0.84117	2.450000	0.82876	0.561000	0.74099	GGT	DDB1	-	NULL	ENSG00000167986		0.483	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	62	0.00	0	C	NM_001923		61093120	61093120	-1	no_errors	ENST00000301764	ensembl	human	known	69_37n	missense	101	39.16	65	SNP	1.000	T
DDB1	1642	genome.wustl.edu	37	11	61093120	61093120	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr11:61093120C>T	ENST00000301764.7	-	6	1122	c.725G>A	c.(724-726)gGt>gAt	p.G242D	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	242	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.G242D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTATTTGTCACCATTGTGATA	0.483								Nucleotide excision repair (NER)																														dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	100.0	103.0					11																	61093120		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.725G>A	11.37:g.61093120C>T	ENSP00000301764:p.Gly242Asp		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.G242D	ENST00000301764.7	37	c.725	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121417	0.77436	.	.	ENSG00000167986	ENST00000301764;ENST00000535174;ENST00000541513	T;T;T	0.37235	1.21;1.21;1.21	5.27	5.27	0.74061	.	0.103901	0.64402	D	0.000003	T	0.52693	0.1750	M	0.64404	1.975	0.80722	D	1	B;P;P	0.46859	0.297;0.547;0.885	B;P;P	0.59424	0.315;0.565;0.857	T	0.41980	-0.9478	10	0.09590	T	0.72	-13.8792	18.8894	0.92392	0.0:1.0:0.0:0.0	.	242;242;242	F5GY55;B7Z2A1;Q16531	.;.;DDB1_HUMAN	D	242;25;57	ENSP00000301764:G242D;ENSP00000446044:G25D;ENSP00000442660:G57D	ENSP00000301764:G242D	G	-	2	0	DDB1	60849696	1.000000	0.71417	0.787000	0.31911	0.992000	0.81027	7.685000	0.84117	2.450000	0.82876	0.561000	0.74099	GGT	DDB1	-	NULL	ENSG00000167986		0.483	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	88	0.00	0	C	NM_001923		61093120	61093120	-1	no_errors	ENST00000301764	ensembl	human	known	69_37n	missense	101	39.16	65	SNP	1.000	T
DMKN	93099	genome.wustl.edu	37	19	35999142	35999142	+	Intron	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr19:35999142C>T	ENST00000339686.3	-	7	1215				DMKN_ENST00000440396.1_Splice_Site_p.G347S|DMKN_ENST00000424570.2_Splice_Site_p.G347S|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000488892.1_Intron|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000392206.2_Intron|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000602781.1_Intron|DMKN_ENST00000467637.1_Splice_Site_p.G60S|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000447113.2_Splice_Site_p.G347S|DMKN_ENST00000474928.1_Intron|DMKN_ENST00000472252.2_Intron|DMKN_ENST00000414866.2_Intron|DMKN_ENST00000419602.1_Splice_Site_p.G286S|DMKN_ENST00000451297.2_Intron|DMKN_ENST00000402589.2_Intron|DMKN_ENST00000418261.1_Intron|DMKN_ENST00000443640.1_Splice_Site_p.G60S|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000458071.1_Splice_Site_p.G60S|DMKN_ENST00000461300.1_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G286S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTCTGAAGCCCTGCAGGGTG	0.483																																						dbGAP											1	Substitution - Missense(1)	breast(1)											143.0	130.0	134.0					19																	35999142		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1038+1670G>A	19.37:g.35999142C>T			A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	NULL	p.G286S	ENST00000339686.3	37	c.856	CCDS12463.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.92|13.92	2.380421|2.380421	0.42207|0.42207	.|.	.|.	ENSG00000161249|ENSG00000161249	ENST00000434389|ENST00000392207;ENST00000419602;ENST00000443640;ENST00000447113;ENST00000440396;ENST00000458071;ENST00000424570	.|T;T;T;T;T	.|0.30182	.|2.35;1.54;2.21;2.35;2.3	3.13|3.13	2.09|2.09	0.27110|0.27110	.|.	.|.	.|.	.|.	.|.	T|T	0.24547|0.24547	0.0595|0.0595	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|D;P;P	.|0.56968	.|0.978;0.877;0.799	.|P;B;B	.|0.50440	.|0.641;0.362;0.362	T|T	0.07809|0.07809	-1.0753|-1.0753	5|9	.|0.28530	.|T	.|0.3	.|.	6.2251|6.2251	0.20703|0.20703	0.0:0.8607:0.0:0.1393|0.0:0.8607:0.0:0.1393	.|.	.|347;347;286	.|E7EUS0;Q6E0U4-5;C9J4P6	.|.;.;.	E|S	27|347;286;60;347;347;60;347	.|ENSP00000391036:G286S;ENSP00000406864:G60S;ENSP00000394908:G347S;ENSP00000415277:G347S;ENSP00000388404:G347S	.|ENSP00000376043:G347S	G|G	-|-	2|1	0|0	DMKN|DMKN	40690982|40690982	0.006000|0.006000	0.16342|0.16342	0.003000|0.003000	0.11579|0.11579	0.004000|0.004000	0.04260|0.04260	0.558000|0.558000	0.23469|0.23469	0.876000|0.876000	0.35872|0.35872	0.655000|0.655000	0.94253|0.94253	GGG|GGC	DMKN	-	NULL	ENSG00000161249		0.483	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	73	0.00	0	C	NM_033317		35999142	35999142	-1	no_errors	ENST00000419602	ensembl	human	known	69_37n	missense	118	26.71	43	SNP	0.003	T
MT-ND5	4540	genome.wustl.edu	37	M	12327	12327	+	5'Flank	SNP	A	A	G			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chrM:12327A>G	ENST00000361567.2	+	0	0				MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						GTGCAACTCCAAATAAAAGTA	0.418																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915			M.37:g.12327A>G	Exception_encountered		Q34773|Q8WCY3	RNA	SNP	-	NULL	ENST00000361567.2	37	NULL		MT																																																																																			J01415.20	-	-	ENSG00000210191		0.418	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000210191	Clone_based_ensembl_gene	protein_coding		19	0.00	0	A	YP_003024036		12327	12327	+1	no_errors	ENST00000387456	ensembl	human	known	69_37n	rna	4	33.33	2	SNP	NULL	G
EP400	57634	genome.wustl.edu	37	12	132498069	132498069	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr12:132498069C>T	ENST00000333577.4	+	19	3863	c.3754C>T	c.(3754-3756)Cac>Tac	p.H1252Y	EP400_ENST00000389562.2_Missense_Mutation_p.H1215Y|EP400_ENST00000389561.2_Missense_Mutation_p.H1216Y|EP400_ENST00000330386.6_Missense_Mutation_p.H1216Y|EP400_ENST00000332482.4_Missense_Mutation_p.H1179Y			Q96L91	EP400_HUMAN	E1A binding protein p400	1252	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.H1215Y(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCGCCGCTGCACAATACCTT	0.592																																						dbGAP											1	Substitution - Missense(1)	breast(1)											88.0	88.0	88.0					12																	132498069		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3754C>T	12.37:g.132498069C>T	ENSP00000333602:p.His1252Tyr		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H1252Y	ENST00000333577.4	37	c.3754		12	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806658	0.50421	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	5.1	5.1	0.69264	.	0.178037	0.51477	D	0.000086	D	0.92935	0.7752	L	0.39245	1.2	0.48236	D	0.999616	D;D;D	0.62365	0.991;0.983;0.991	P;P;P	0.56088	0.791;0.67;0.791	D	0.93921	0.7206	10	0.87932	D	0	.	18.4948	0.90861	0.0:1.0:0.0:0.0	.	1216;1216;1215	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	Y	1252;1216;1215;1179;1216;1216;1216	ENSP00000333602:H1252Y;ENSP00000374212:H1216Y;ENSP00000374213:H1215Y;ENSP00000331737:H1179Y;ENSP00000330620:H1216Y	ENSP00000330620:H1216Y	H	+	1	0	EP400	131064022	1.000000	0.71417	0.996000	0.52242	0.863000	0.49368	5.869000	0.69613	2.347000	0.79759	0.643000	0.83706	CAC	EP400	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000183495		0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		30	0.00	0	C	NM_015409		132498069	132498069	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	missense	60	34.07	31	SNP	1.000	T
EP400	57634	genome.wustl.edu	37	12	132498069	132498069	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr12:132498069C>T	ENST00000333577.4	+	19	3863	c.3754C>T	c.(3754-3756)Cac>Tac	p.H1252Y	EP400_ENST00000389562.2_Missense_Mutation_p.H1215Y|EP400_ENST00000389561.2_Missense_Mutation_p.H1216Y|EP400_ENST00000330386.6_Missense_Mutation_p.H1216Y|EP400_ENST00000332482.4_Missense_Mutation_p.H1179Y			Q96L91	EP400_HUMAN	E1A binding protein p400	1252	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.H1215Y(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCGCCGCTGCACAATACCTT	0.592																																						dbGAP											1	Substitution - Missense(1)	breast(1)											88.0	88.0	88.0					12																	132498069		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3754C>T	12.37:g.132498069C>T	ENSP00000333602:p.His1252Tyr		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H1252Y	ENST00000333577.4	37	c.3754		12	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806658	0.50421	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	5.1	5.1	0.69264	.	0.178037	0.51477	D	0.000086	D	0.92935	0.7752	L	0.39245	1.2	0.48236	D	0.999616	D;D;D	0.62365	0.991;0.983;0.991	P;P;P	0.56088	0.791;0.67;0.791	D	0.93921	0.7206	10	0.87932	D	0	.	18.4948	0.90861	0.0:1.0:0.0:0.0	.	1216;1216;1215	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	Y	1252;1216;1215;1179;1216;1216;1216	ENSP00000333602:H1252Y;ENSP00000374212:H1216Y;ENSP00000374213:H1215Y;ENSP00000331737:H1179Y;ENSP00000330620:H1216Y	ENSP00000330620:H1216Y	H	+	1	0	EP400	131064022	1.000000	0.71417	0.996000	0.52242	0.863000	0.49368	5.869000	0.69613	2.347000	0.79759	0.643000	0.83706	CAC	EP400	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000183495		0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		34	0.00	0	C	NM_015409		132498069	132498069	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	missense	60	34.07	31	SNP	1.000	T
FAIM3	9214	genome.wustl.edu	37	1	207086340	207086341	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr1:207086340_207086341insT	ENST00000367091.3	-	3	563_564	c.420_421insA	c.(418-423)aaatggfs	p.W141fs	FAIM3_ENST00000420007.2_Frame_Shift_Ins_p.W141fs|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Frame_Shift_Ins_p.W29fs	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	141					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					AGATGAAACCATTTTGGAGTCT	0.49											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.421dupA	1.37:g.207086344_207086344dupT	ENSP00000356058:p.Trp141fs	2164	A8K7J2|B7Z6Z0|D9MWM3	Frame_Shift_Ins	INS	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub	p.W140fs	ENST00000367091.3	37	c.421_420	CCDS1473.1	1																																																																																			FAIM3	-	NULL	ENSG00000162894		0.490	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM3	HGNC	protein_coding	OTTHUMT00000088677.1	102	0.00	0	-	NM_005449		207086340	207086341	-1	no_errors	ENST00000367091	ensembl	human	known	69_37n	frame_shift_ins	90	47.06	80	INS	0.272:0.014	T
FAIM3	9214	genome.wustl.edu	37	1	207086340	207086341	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr1:207086340_207086341insT	ENST00000367091.3	-	3	563_564	c.420_421insA	c.(418-423)aaatggfs	p.W141fs	FAIM3_ENST00000420007.2_Frame_Shift_Ins_p.W141fs|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Frame_Shift_Ins_p.W29fs	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	141					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					AGATGAAACCATTTTGGAGTCT	0.49											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.421dupA	1.37:g.207086344_207086344dupT	ENSP00000356058:p.Trp141fs	2164	A8K7J2|B7Z6Z0|D9MWM3	Frame_Shift_Ins	INS	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub	p.W140fs	ENST00000367091.3	37	c.421_420	CCDS1473.1	1																																																																																			FAIM3	-	NULL	ENSG00000162894		0.490	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM3	HGNC	protein_coding	OTTHUMT00000088677.1	68	0.00	0	-	NM_005449		207086340	207086341	-1	no_errors	ENST00000367091	ensembl	human	known	69_37n	frame_shift_ins	90	47.06	80	INS	0.272:0.014	T
FCGBP	8857	genome.wustl.edu	37	19	40368619	40368619	+	Silent	SNP	G	G	A	rs150027077	byFrequency	TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr19:40368619G>A	ENST00000221347.6	-	28	12736	c.12729C>T	c.(12727-12729)ggC>ggT	p.G4243G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4243	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCAGCTGCCGCCCCAGATGG	0.647																																						dbGAP											0													12.0	15.0	14.0					19																	40368619		2182	4225	6407	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12729C>T	19.37:g.40368619G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.G4243	ENST00000221347.6	37	c.12729	CCDS12546.1	19																																																																																			FCGBP	-	NULL	ENSG00000090920		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	46	0.00	0	G	NM_003890		40368619	40368619	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	241	11.72	32	SNP	0.496	A
FHAD1	114827	genome.wustl.edu	37	1	15708607	15708607	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr1:15708607C>T	ENST00000375998.4	+	29	4040	c.4040C>T	c.(4039-4041)gCc>gTc	p.A1347V	FHAD1_ENST00000314740.8_Missense_Mutation_p.A600V|FHAD1_ENST00000375999.3_Missense_Mutation_p.A1347V|FHAD1_ENST00000417793.1_Missense_Mutation_p.A1311V|FHAD1_ENST00000358897.4_Missense_Mutation_p.A1347V|FHAD1_ENST00000471347.1_3'UTR			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	1347								p.A1347V(1)		skin(1)|stomach(1)	2						GAAGAGAAGGCCCTGCTGAAG	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	80.0	78.0					1																	15708607		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.4040C>T	1.37:g.15708607C>T	ENSP00000365166:p.Ala1347Val		Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A1347V	ENST00000375998.4	37	c.4040		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.726123|4.726123	0.89298|0.89298	.|.	.|.	ENSG00000142621|ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668|ENST00000444385	T;T;T;T;T;T;T|.	0.51574|.	0.7;0.71;0.7;0.7;0.74;0.75;0.74|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|.	.|.	.|.	.|.	T|T	0.74861|0.74861	0.3772|0.3772	M|M	0.74881|0.74881	2.28|2.28	0.36710|0.36710	D|D	0.880573|0.880573	D;D|.	0.89917|.	1.0;0.996|.	D;D|.	0.85130|.	0.997;0.977|.	T|T	0.78575|0.78575	-0.2151|-0.2151	9|5	0.30078|.	T|.	0.28|.	-20.9521|-20.9521	15.5453|15.5453	0.76093|0.76093	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	600;1347|.	B7WPP2;B1AJZ9|.	.;FHAD1_HUMAN|.	V|S	1347;1311;1347;1347;618;600;582|666	ENSP00000351770:A1347V;ENSP00000407615:A1311V;ENSP00000365167:A1347V;ENSP00000365166:A1347V;ENSP00000434909:A618V;ENSP00000322979:A600V;ENSP00000318812:A582V|.	ENSP00000318812:A582V|.	A|P	+|+	2|1	0|0	FHAD1|FHAD1	15581194|15581194	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.970000|0.970000	0.65996|0.65996	3.488000|3.488000	0.53229|0.53229	2.742000|2.742000	0.94016|0.94016	0.655000|0.655000	0.94253|0.94253	GCC|CCC	FHAD1	-	NULL	ENSG00000142621		0.597	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	13	0.00	0	C	NM_052929		15708607	15708607	+1	no_errors	ENST00000375999	ensembl	human	known	69_37n	missense	35	61.11	55	SNP	0.999	T
FHAD1	114827	genome.wustl.edu	37	1	15708607	15708607	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr1:15708607C>T	ENST00000375998.4	+	29	4040	c.4040C>T	c.(4039-4041)gCc>gTc	p.A1347V	FHAD1_ENST00000314740.8_Missense_Mutation_p.A600V|FHAD1_ENST00000375999.3_Missense_Mutation_p.A1347V|FHAD1_ENST00000417793.1_Missense_Mutation_p.A1311V|FHAD1_ENST00000358897.4_Missense_Mutation_p.A1347V|FHAD1_ENST00000471347.1_3'UTR			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	1347								p.A1347V(1)		skin(1)|stomach(1)	2						GAAGAGAAGGCCCTGCTGAAG	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	80.0	78.0					1																	15708607		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.4040C>T	1.37:g.15708607C>T	ENSP00000365166:p.Ala1347Val		Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A1347V	ENST00000375998.4	37	c.4040		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.726123|4.726123	0.89298|0.89298	.|.	.|.	ENSG00000142621|ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668|ENST00000444385	T;T;T;T;T;T;T|.	0.51574|.	0.7;0.71;0.7;0.7;0.74;0.75;0.74|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|.	.|.	.|.	.|.	T|T	0.74861|0.74861	0.3772|0.3772	M|M	0.74881|0.74881	2.28|2.28	0.36710|0.36710	D|D	0.880573|0.880573	D;D|.	0.89917|.	1.0;0.996|.	D;D|.	0.85130|.	0.997;0.977|.	T|T	0.78575|0.78575	-0.2151|-0.2151	9|5	0.30078|.	T|.	0.28|.	-20.9521|-20.9521	15.5453|15.5453	0.76093|0.76093	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	600;1347|.	B7WPP2;B1AJZ9|.	.;FHAD1_HUMAN|.	V|S	1347;1311;1347;1347;618;600;582|666	ENSP00000351770:A1347V;ENSP00000407615:A1311V;ENSP00000365167:A1347V;ENSP00000365166:A1347V;ENSP00000434909:A618V;ENSP00000322979:A600V;ENSP00000318812:A582V|.	ENSP00000318812:A582V|.	A|P	+|+	2|1	0|0	FHAD1|FHAD1	15581194|15581194	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.970000|0.970000	0.65996|0.65996	3.488000|3.488000	0.53229|0.53229	2.742000|2.742000	0.94016|0.94016	0.655000|0.655000	0.94253|0.94253	GCC|CCC	FHAD1	-	NULL	ENSG00000142621		0.597	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	20	0.00	0	C	NM_052929		15708607	15708607	+1	no_errors	ENST00000375999	ensembl	human	known	69_37n	missense	35	61.11	55	SNP	0.999	T
FOLR4	390243	genome.wustl.edu	37	11	94040778	94040788	+	Frame_Shift_Del	DEL	CTCTTCGCCAG	CTCTTCGCCAG	-	rs367878279|rs371721470		TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	CTCTTCGCCAG	CTCTTCGCCAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr11:94040778_94040788delCTCTTCGCCAG	ENST00000440961.2	+	4	696_706	c.652_662delCTCTTCGCCAG	c.(652-663)ctcttcgccagcfs	p.LFAS218fs		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	225					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.F220fs*>22(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CGTGGCCCGCCTCTTCGCCAGCTCTGCCCCA	0.597																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0					11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.652_662delCTCTTCGCCAG	11.37:g.94040778_94040788delCTCTTCGCCAG	ENSP00000416935:p.Leu218fs			Frame_Shift_Del	DEL	pfam_Folate_rcpt-like	p.F219fs	ENST00000440961.2	37	c.652_662		11																																																																																			FOLR4	-	NULL	ENSG00000183560		0.597	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	FOLR4	HGNC	protein_coding	OTTHUMT00000396420.1	26	0.00	0	CTCTTCGCCAG	NM_001080486		94040778	94040788	+1	no_errors	ENST00000440961	ensembl	human	novel	69_37n	frame_shift_del	78	10.34	9	DEL	0.003:0.002:0.014:0.018:0.012:0.007:0.288:0.315:0.009:0.006:0.000	-
FOLR4	390243	genome.wustl.edu	37	11	94040778	94040788	+	Frame_Shift_Del	DEL	CTCTTCGCCAG	CTCTTCGCCAG	-	rs367878279|rs371721470		TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	CTCTTCGCCAG	CTCTTCGCCAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr11:94040778_94040788delCTCTTCGCCAG	ENST00000440961.2	+	4	696_706	c.652_662delCTCTTCGCCAG	c.(652-663)ctcttcgccagcfs	p.LFAS218fs		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	225					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.F220fs*>22(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CGTGGCCCGCCTCTTCGCCAGCTCTGCCCCA	0.597																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0					11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.652_662delCTCTTCGCCAG	11.37:g.94040778_94040788delCTCTTCGCCAG	ENSP00000416935:p.Leu218fs			Frame_Shift_Del	DEL	pfam_Folate_rcpt-like	p.F219fs	ENST00000440961.2	37	c.652_662		11																																																																																			FOLR4	-	NULL	ENSG00000183560		0.597	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	FOLR4	HGNC	protein_coding	OTTHUMT00000396420.1	35	0.00	0	CTCTTCGCCAG	NM_001080486		94040778	94040788	+1	no_errors	ENST00000440961	ensembl	human	novel	69_37n	frame_shift_del	78	10.34	9	DEL	0.003:0.002:0.014:0.018:0.012:0.007:0.288:0.315:0.009:0.006:0.000	-
GIMAP8	155038	genome.wustl.edu	37	7	150171600	150171634	+	Frame_Shift_Del	DEL	AGATATAGTGCCTTCAACTACCGGGCAACAGGAGA	AGATATAGTGCCTTCAACTACCGGGCAACAGGAGA	-	rs539691675|rs368042510|rs376859130|rs536291210	byFrequency	TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	AGATATAGTGCCTTCAACTACCGGGCAACAGGAGA	AGATATAGTGCCTTCAACTACCGGGCAACAGGAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr7:150171600_150171634delAGATATAGTGCCTTCAACTACCGGGCAACAGGAGA	ENST00000307271.3	+	4	1757_1791	c.1183_1217delAGATATAGTGCCTTCAACTACCGGGCAACAGGAGA	c.(1183-1218)agatatagtgccttcaactaccgggcaacaggagaafs	p.RYSAFNYRATGE395fs		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	395	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTGTAAAAACAGATATAGTGCCTTCAACTACCGGGCAACAGGAGAAGAAGAGCAA	0.421														17	0.00339457	0.0	0.0029	5008	,	,		19131	0.0		0.0149	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1183_1217delAGATATAGTGCCTTCAACTACCGGGCAACAGGAGA	7.37:g.150171600_150171634delAGATATAGTGCCTTCAACTACCGGGCAACAGGAGA	ENSP00000305107:p.Arg395fs			Frame_Shift_Del	DEL	pfam_AIG1	p.Y396fs	ENST00000307271.3	37	c.1183_1217	CCDS34777.1	7																																																																																			GIMAP8	-	pfam_AIG1	ENSG00000171115		0.421	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	HGNC	protein_coding	OTTHUMT00000350701.1	38	0.00	0	AGATATAGTGCCTTCAACTACCGGGCAACAGGAGA	NM_175571		150171600	150171634	+1	no_errors	ENST00000307271	ensembl	human	known	69_37n	frame_shift_del	97	11.82	13	DEL	0.000:0.004:0.000:0.016:0.012:0.003:0.000:0.000:0.000:0.000:0.001:0.464:0.880:0.952:0.961:0.967:0.968:0.973:0.969:0.901:0.861:0.133:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-
GRHL2	79977	genome.wustl.edu	37	8	102570699	102570699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr8:102570699C>T	ENST00000251808.3	+	4	675	c.337C>T	c.(337-339)Cga>Tga	p.R113*	GRHL2_ENST00000395927.1_Nonsense_Mutation_p.R97*	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	113					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R113*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGGAGAAAACCGAGTGCAAGT	0.473																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											117.0	120.0	119.0					8																	102570699		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.337C>T	8.37:g.102570699C>T	ENSP00000251808:p.Arg113*		A1L303|Q6NT03|Q9H8B8	Nonsense_Mutation	SNP	pfam_CP2	p.R113*	ENST00000251808.3	37	c.337	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	39	7.700381	0.98441	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	.	.	.	5.26	3.44	0.39384	.	0.108253	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5532	14.0552	0.64764	0.3907:0.6093:0.0:0.0	.	.	.	.	X	113;97;113	.	ENSP00000251808:R113X	R	+	1	2	GRHL2	102639875	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.934000	0.40163	0.573000	0.29400	-0.172000	0.13284	CGA	GRHL2	-	NULL	ENSG00000083307		0.473	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	56	0.00	0	C	NM_024915		102570699	102570699	+1	no_errors	ENST00000251808	ensembl	human	known	69_37n	nonsense	99	27.74	38	SNP	1.000	T
GRHL2	79977	genome.wustl.edu	37	8	102570699	102570699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr8:102570699C>T	ENST00000251808.3	+	4	675	c.337C>T	c.(337-339)Cga>Tga	p.R113*	GRHL2_ENST00000395927.1_Nonsense_Mutation_p.R97*	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	113					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R113*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGGAGAAAACCGAGTGCAAGT	0.473																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											117.0	120.0	119.0					8																	102570699		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.337C>T	8.37:g.102570699C>T	ENSP00000251808:p.Arg113*		A1L303|Q6NT03|Q9H8B8	Nonsense_Mutation	SNP	pfam_CP2	p.R113*	ENST00000251808.3	37	c.337	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	39	7.700381	0.98441	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	.	.	.	5.26	3.44	0.39384	.	0.108253	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5532	14.0552	0.64764	0.3907:0.6093:0.0:0.0	.	.	.	.	X	113;97;113	.	ENSP00000251808:R113X	R	+	1	2	GRHL2	102639875	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.934000	0.40163	0.573000	0.29400	-0.172000	0.13284	CGA	GRHL2	-	NULL	ENSG00000083307		0.473	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	86	0.00	0	C	NM_024915		102570699	102570699	+1	no_errors	ENST00000251808	ensembl	human	known	69_37n	nonsense	99	27.74	38	SNP	1.000	T
HSDL2	84263	genome.wustl.edu	37	9	115167969	115167969	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr9:115167969G>C	ENST00000398805.3	+	3	474	c.247G>C	c.(247-249)Gct>Cct	p.A83P	HSDL2_ENST00000398803.1_Missense_Mutation_p.A83P|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000262542.7_5'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	83						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)	p.A83P(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GCAGATCAGTGCTGCAGTGGA	0.333																																						dbGAP											1	Substitution - Missense(1)	breast(1)											158.0	155.0	156.0					9																	115167969		1900	4120	6020	-	-	-	SO:0001583	missense	0			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.247G>C	9.37:g.115167969G>C	ENSP00000381785:p.Ala83Pro		A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH	p.A83P	ENST00000398805.3	37	c.247	CCDS43864.1	9	.	.	.	.	.	.	.	.	.	.	G	5.603	0.295961	0.10622	.	.	ENSG00000119471	ENST00000398805;ENST00000398803	D;D	0.89810	-2.57;-2.57	5.57	-0.874	0.10631	NAD(P)-binding domain (1);	1.362170	0.04042	N	0.303272	D	0.90007	0.6880	M	0.92649	3.33	0.09310	N	0.999998	B;B	0.27700	0.099;0.186	B;B	0.27500	0.039;0.08	T	0.69978	-0.4998	10	0.02654	T	1	.	11.7245	0.51702	0.4306:0.0:0.5694:0.0	.	83;83	Q6YN16-2;Q6YN16	.;HSDL2_HUMAN	P	83	ENSP00000381785:A83P;ENSP00000381783:A83P	ENSP00000381783:A83P	A	+	1	0	HSDL2	114207790	0.001000	0.12720	0.000000	0.03702	0.033000	0.12548	1.060000	0.30530	-0.230000	0.09840	0.313000	0.20887	GCT	HSDL2	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000119471		0.333	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	HSDL2	HGNC	protein_coding	OTTHUMT00000053681.1	132	0.00	0	G	NM_032303		115167969	115167969	+1	no_errors	ENST00000398805	ensembl	human	known	69_37n	missense	85	23.42	26	SNP	0.000	C
HSDL2	84263	genome.wustl.edu	37	9	115167969	115167969	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr9:115167969G>C	ENST00000398805.3	+	3	474	c.247G>C	c.(247-249)Gct>Cct	p.A83P	HSDL2_ENST00000398803.1_Missense_Mutation_p.A83P|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000262542.7_5'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	83						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)	p.A83P(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GCAGATCAGTGCTGCAGTGGA	0.333																																						dbGAP											1	Substitution - Missense(1)	breast(1)											158.0	155.0	156.0					9																	115167969		1900	4120	6020	-	-	-	SO:0001583	missense	0			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.247G>C	9.37:g.115167969G>C	ENSP00000381785:p.Ala83Pro		A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH	p.A83P	ENST00000398805.3	37	c.247	CCDS43864.1	9	.	.	.	.	.	.	.	.	.	.	G	5.603	0.295961	0.10622	.	.	ENSG00000119471	ENST00000398805;ENST00000398803	D;D	0.89810	-2.57;-2.57	5.57	-0.874	0.10631	NAD(P)-binding domain (1);	1.362170	0.04042	N	0.303272	D	0.90007	0.6880	M	0.92649	3.33	0.09310	N	0.999998	B;B	0.27700	0.099;0.186	B;B	0.27500	0.039;0.08	T	0.69978	-0.4998	10	0.02654	T	1	.	11.7245	0.51702	0.4306:0.0:0.5694:0.0	.	83;83	Q6YN16-2;Q6YN16	.;HSDL2_HUMAN	P	83	ENSP00000381785:A83P;ENSP00000381783:A83P	ENSP00000381783:A83P	A	+	1	0	HSDL2	114207790	0.001000	0.12720	0.000000	0.03702	0.033000	0.12548	1.060000	0.30530	-0.230000	0.09840	0.313000	0.20887	GCT	HSDL2	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000119471		0.333	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	HSDL2	HGNC	protein_coding	OTTHUMT00000053681.1	94	0.00	0	G	NM_032303		115167969	115167969	+1	no_errors	ENST00000398805	ensembl	human	known	69_37n	missense	85	23.42	26	SNP	0.000	C
LGI2	55203	genome.wustl.edu	37	4	25005663	25005663	+	Silent	SNP	G	G	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr4:25005663G>A	ENST00000382114.4	-	8	1233	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	350						extracellular region (GO:0005576)		p.L350L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ACTGTGGACAGACCAGCCTTT	0.478																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											108.0	110.0	109.0					4																	25005663		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1048C>T	4.37:g.25005663G>A			Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.L350	ENST00000382114.4	37	c.1048	CCDS3431.1	4																																																																																			LGI2	-	pfam_EPTP,pfscan_EAR	ENSG00000153012		0.478	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1	61	0.00	0	G			25005663	25005663	-1	no_errors	ENST00000382114	ensembl	human	known	69_37n	silent	135	21.51	37	SNP	0.488	A
LGI2	55203	genome.wustl.edu	37	4	25005663	25005663	+	Silent	SNP	G	G	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr4:25005663G>A	ENST00000382114.4	-	8	1233	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	350						extracellular region (GO:0005576)		p.L350L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ACTGTGGACAGACCAGCCTTT	0.478																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											108.0	110.0	109.0					4																	25005663		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1048C>T	4.37:g.25005663G>A			Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.L350	ENST00000382114.4	37	c.1048	CCDS3431.1	4																																																																																			LGI2	-	pfam_EPTP,pfscan_EAR	ENSG00000153012		0.478	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1	82	0.00	0	G			25005663	25005663	-1	no_errors	ENST00000382114	ensembl	human	known	69_37n	silent	135	21.51	37	SNP	0.488	A
LSM11	134353	genome.wustl.edu	37	5	157178496	157178496	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr5:157178496T>C	ENST00000286307.5	+	2	603	c.547T>C	c.(547-549)Tgt>Cgt	p.C183R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	183	SM 1.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)	p.C183R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCGGGGCGTCTGTACAGGCTT	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											137.0	133.0	135.0					5																	157178496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.547T>C	5.37:g.157178496T>C	ENSP00000286307:p.Cys183Arg		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.C183R	ENST00000286307.5	37	c.547	CCDS4342.1	5	.	.	.	.	.	.	.	.	.	.	T	27.4	4.826433	0.90955	.	.	ENSG00000155858	ENST00000286307	T	0.41400	1.0	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.091208	0.85682	D	0.000000	T	0.65228	0.2671	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68198	-0.5472	10	0.87932	D	0	-11.2614	16.5764	0.84681	0.0:0.0:0.0:1.0	.	183	P83369	LSM11_HUMAN	R	183	ENSP00000286307:C183R	ENSP00000286307:C183R	C	+	1	0	LSM11	157111074	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.965000	0.87945	2.371000	0.80710	0.533000	0.62120	TGT	LSM11	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000155858		0.488	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM11	HGNC	protein_coding	OTTHUMT00000252580.2	60	0.00	0	T	NM_173491		157178496	157178496	+1	no_errors	ENST00000286307	ensembl	human	known	69_37n	missense	73	39.34	48	SNP	1.000	C
LSM11	134353	genome.wustl.edu	37	5	157178496	157178496	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr5:157178496T>C	ENST00000286307.5	+	2	603	c.547T>C	c.(547-549)Tgt>Cgt	p.C183R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	183	SM 1.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)	p.C183R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCGGGGCGTCTGTACAGGCTT	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											137.0	133.0	135.0					5																	157178496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.547T>C	5.37:g.157178496T>C	ENSP00000286307:p.Cys183Arg		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.C183R	ENST00000286307.5	37	c.547	CCDS4342.1	5	.	.	.	.	.	.	.	.	.	.	T	27.4	4.826433	0.90955	.	.	ENSG00000155858	ENST00000286307	T	0.41400	1.0	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.091208	0.85682	D	0.000000	T	0.65228	0.2671	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68198	-0.5472	10	0.87932	D	0	-11.2614	16.5764	0.84681	0.0:0.0:0.0:1.0	.	183	P83369	LSM11_HUMAN	R	183	ENSP00000286307:C183R	ENSP00000286307:C183R	C	+	1	0	LSM11	157111074	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.965000	0.87945	2.371000	0.80710	0.533000	0.62120	TGT	LSM11	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000155858		0.488	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM11	HGNC	protein_coding	OTTHUMT00000252580.2	76	0.00	0	T	NM_173491		157178496	157178496	+1	no_errors	ENST00000286307	ensembl	human	known	69_37n	missense	73	39.34	48	SNP	1.000	C
MIR412	574433	genome.wustl.edu	37	14	101532265	101532265	+	RNA	SNP	T	T	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr14:101532265T>A	ENST00000362142.2	+	0	91				MIR409_ENST00000362237.1_RNA|MIR541_ENST00000401360.1_RNA|MIR369_ENST00000362155.3_RNA|MIR410_ENST00000362222.2_RNA|MIR656_ENST00000385224.1_RNA	NR_030155.1				microRNA 412																		TGAGAAGAGGTTGTCTGTGAT	0.597																																						dbGAP											0													105.0	90.0	95.0					14																	101532265		1568	3582	5150	-	-	-			0					14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101532265T>A				RNA	SNP	-	NULL	ENST00000362142.2	37	NULL		14																																																																																			MIR410	-	-	ENSG00000199092		0.597	MIR412-201	KNOWN	basic	miRNA	MIR410	HGNC	miRNA		63	0.00	0	T	NR_030155		101532265	101532265	+1	no_errors	ENST00000362222	ensembl	human	known	69_37n	rna	113	26.75	42	SNP	1.000	A
MIR412	574433	genome.wustl.edu	37	14	101532265	101532265	+	RNA	SNP	T	T	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr14:101532265T>A	ENST00000362142.2	+	0	91				MIR409_ENST00000362237.1_RNA|MIR541_ENST00000401360.1_RNA|MIR369_ENST00000362155.3_RNA|MIR410_ENST00000362222.2_RNA|MIR656_ENST00000385224.1_RNA	NR_030155.1				microRNA 412																		TGAGAAGAGGTTGTCTGTGAT	0.597																																						dbGAP											0													105.0	90.0	95.0					14																	101532265		1568	3582	5150	-	-	-			0					14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101532265T>A				RNA	SNP	-	NULL	ENST00000362142.2	37	NULL		14																																																																																			MIR410	-	-	ENSG00000199092		0.597	MIR412-201	KNOWN	basic	miRNA	MIR410	HGNC	miRNA		82	0.00	0	T	NR_030155		101532265	101532265	+1	no_errors	ENST00000362222	ensembl	human	known	69_37n	rna	113	26.75	42	SNP	1.000	A
MT-ND1	4535	genome.wustl.edu	37	M	4100	4100	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chrM:4100T>C	ENST00000361390.2	+	1	794	c.794T>C	c.(793-795)cTt>cCt	p.L265P	MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TC_ENST00000387405.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	265					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAGACCCTACTTCTAACCTC	0.433																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.794T>C	M.37:g.4100T>C	ENSP00000354687:p.Leu265Pro		C0JKH6|Q37523	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_su1/FPO	p.L265P	ENST00000361390.2	37	c.794		MT																																																																																			MT-ND1	-	pfam_NADH_UbQ_OxRdtase_su1/FPO	ENSG00000198888		0.433	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	MT-ND1	HGNC	protein_coding		10	0.00	0	T	YP_003024026		4100	4100	+1	no_stop_codon	ENST00000361390	ensembl	human	known	69_37n	missense	3	50.00	3	SNP	NULL	C
MT-ND1	4535	genome.wustl.edu	37	M	4100	4100	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chrM:4100T>C	ENST00000361390.2	+	1	794	c.794T>C	c.(793-795)cTt>cCt	p.L265P	MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TC_ENST00000387405.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	265					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAGACCCTACTTCTAACCTC	0.433																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.794T>C	M.37:g.4100T>C	ENSP00000354687:p.Leu265Pro		C0JKH6|Q37523	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_su1/FPO	p.L265P	ENST00000361390.2	37	c.794		MT																																																																																			MT-ND1	-	pfam_NADH_UbQ_OxRdtase_su1/FPO	ENSG00000198888		0.433	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	MT-ND1	HGNC	protein_coding		15	0.00	0	T	YP_003024026		4100	4100	+1	no_stop_codon	ENST00000361390	ensembl	human	known	69_37n	missense	3	50.00	3	SNP	NULL	C
MT-CYB	4519	genome.wustl.edu	37	M	14934	14934	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chrM:14934T>C	ENST00000361789.2	+	1	188	c.188T>C	c.(187-189)tTt>tCt	p.F63S	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TT_ENST00000387460.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	63					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CTCAACCGCCTTTTCATCAAT	0.498																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.188T>C	M.37:g.14934T>C	ENSP00000354554:p.Phe63Ser		Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	pfam_Cyt_b/b6_C,pfam_Di-haem_cyt_TM,superfamily_Di-haem_cyt_TM,superfamily_Cyt_b/b6_C,pfscan_Cyt_b/b6_N,pfscan_Cyt_b/b6_C	p.F63S	ENST00000361789.2	37	c.188		MT																																																																																			MT-CYB	-	pfam_Di-haem_cyt_TM,superfamily_Di-haem_cyt_TM,pfscan_Cyt_b/b6_N	ENSG00000198727		0.498	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	MT-CYB	HGNC	protein_coding		120	0.00	0	T	YP_003024038		14934	14934	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361789	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	NULL	C
MT-CYB	4519	genome.wustl.edu	37	M	14934	14934	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chrM:14934T>C	ENST00000361789.2	+	1	188	c.188T>C	c.(187-189)tTt>tCt	p.F63S	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TT_ENST00000387460.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	63					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CTCAACCGCCTTTTCATCAAT	0.498																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.188T>C	M.37:g.14934T>C	ENSP00000354554:p.Phe63Ser		Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	pfam_Cyt_b/b6_C,pfam_Di-haem_cyt_TM,superfamily_Di-haem_cyt_TM,superfamily_Cyt_b/b6_C,pfscan_Cyt_b/b6_N,pfscan_Cyt_b/b6_C	p.F63S	ENST00000361789.2	37	c.188		MT																																																																																			MT-CYB	-	pfam_Di-haem_cyt_TM,superfamily_Di-haem_cyt_TM,pfscan_Cyt_b/b6_N	ENSG00000198727		0.498	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	MT-CYB	HGNC	protein_coding		89	0.00	0	T	YP_003024038		14934	14934	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361789	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	NULL	C
NCOR1	9611	genome.wustl.edu	37	17	15983302	15983302	+	Silent	SNP	T	T	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr17:15983302T>A	ENST00000268712.3	-	26	3734	c.3477A>T	c.(3475-3477)ccA>ccT	p.P1159P	NCOR1_ENST00000395857.3_5'UTR|NCOR1_ENST00000395851.1_Silent_p.P1175P	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1159	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P1159P(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCCGTAGGGATGGAATGCTCT	0.423																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											159.0	143.0	148.0					17																	15983302		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3477A>T	17.37:g.15983302T>A			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	NULL	p.H7L	ENST00000268712.3	37	c.20	CCDS11175.1	17																																																																																			NCOR1	-	NULL	ENSG00000141027		0.423	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	131	0.00	0	T	NM_006311		15983302	15983302	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000395849	ensembl	human	novel	69_37n	missense	159	20.10	40	SNP	0.525	A
NCOR1	9611	genome.wustl.edu	37	17	15983302	15983302	+	Silent	SNP	T	T	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr17:15983302T>A	ENST00000268712.3	-	26	3734	c.3477A>T	c.(3475-3477)ccA>ccT	p.P1159P	NCOR1_ENST00000395857.3_5'UTR|NCOR1_ENST00000395851.1_Silent_p.P1175P	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1159	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P1159P(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCCGTAGGGATGGAATGCTCT	0.423																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											159.0	143.0	148.0					17																	15983302		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3477A>T	17.37:g.15983302T>A			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	NULL	p.H7L	ENST00000268712.3	37	c.20	CCDS11175.1	17																																																																																			NCOR1	-	NULL	ENSG00000141027		0.423	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	176	0.00	0	T	NM_006311		15983302	15983302	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000395849	ensembl	human	novel	69_37n	missense	159	20.10	40	SNP	0.525	A
OR2C3	81472	genome.wustl.edu	37	1	247695646	247695646	+	Silent	SNP	G	G	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr1:247695646G>A	ENST00000366487.3	-	2	529	c.168C>T	c.(166-168)ctC>ctT	p.L56L	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L55L(3)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAGGTGTGTGGAGGTGCACAT	0.493																																						dbGAP											3	Substitution - coding silent(3)	lung(2)|breast(1)											157.0	138.0	144.0					1																	247695646		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.168C>T	1.37:g.247695646G>A			Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L56	ENST00000366487.3	37	c.168	CCDS1634.2	1																																																																																			OR2C3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196242		0.493	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	HGNC	protein_coding	OTTHUMT00000097626.2	76	0.00	0	G	NM_198074		247695646	247695646	-1	no_errors	ENST00000366487	ensembl	human	known	69_37n	silent	104	51.17	109	SNP	0.999	A
OR2C3	81472	genome.wustl.edu	37	1	247695646	247695646	+	Silent	SNP	G	G	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr1:247695646G>A	ENST00000366487.3	-	2	529	c.168C>T	c.(166-168)ctC>ctT	p.L56L	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L55L(3)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAGGTGTGTGGAGGTGCACAT	0.493																																						dbGAP											3	Substitution - coding silent(3)	lung(2)|breast(1)											157.0	138.0	144.0					1																	247695646		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.168C>T	1.37:g.247695646G>A			Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L56	ENST00000366487.3	37	c.168	CCDS1634.2	1																																																																																			OR2C3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196242		0.493	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	HGNC	protein_coding	OTTHUMT00000097626.2	97	0.00	0	G	NM_198074		247695646	247695646	-1	no_errors	ENST00000366487	ensembl	human	known	69_37n	silent	104	51.17	109	SNP	0.999	A
OR4A15	81328	genome.wustl.edu	37	11	55136222	55136222	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr11:55136222G>T	ENST00000314706.3	+	1	863	c.863G>T	c.(862-864)aGg>aTg	p.R288M		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R288M(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTGTATGCAAGGCCCAATTCT	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											269.0	260.0	263.0					11																	55136222		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.863G>T	11.37:g.55136222G>T	ENSP00000325065:p.Arg288Met		Q6IFL4|Q96R65	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R288M	ENST00000314706.3	37	c.863	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	-	13.11	2.138363	0.37728	.	.	ENSG00000181958	ENST00000314706	T	0.37915	1.17	3.65	1.73	0.24493	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000033	T	0.56731	0.2005	M	0.82193	2.58	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.47699	-0.9097	10	0.87932	D	0	.	7.5358	0.27710	0.2232:0.0:0.7768:0.0	.	288	Q8NGL6	O4A15_HUMAN	M	288	ENSP00000325065:R288M	ENSP00000325065:R288M	R	+	2	0	OR4A15	54892798	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-0.759000	0.04761	0.236000	0.21180	0.492000	0.49549	AGG	OR4A15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181958		0.408	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	301	0.00	0	G	NM_001005275		55136222	55136222	+1	no_errors	ENST00000314706	ensembl	human	known	69_37n	missense	218	18.35	49	SNP	0.000	T
OR4A15	81328	genome.wustl.edu	37	11	55136222	55136222	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr11:55136222G>T	ENST00000314706.3	+	1	863	c.863G>T	c.(862-864)aGg>aTg	p.R288M		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R288M(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTGTATGCAAGGCCCAATTCT	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											269.0	260.0	263.0					11																	55136222		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.863G>T	11.37:g.55136222G>T	ENSP00000325065:p.Arg288Met		Q6IFL4|Q96R65	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R288M	ENST00000314706.3	37	c.863	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	-	13.11	2.138363	0.37728	.	.	ENSG00000181958	ENST00000314706	T	0.37915	1.17	3.65	1.73	0.24493	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000033	T	0.56731	0.2005	M	0.82193	2.58	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.47699	-0.9097	10	0.87932	D	0	.	7.5358	0.27710	0.2232:0.0:0.7768:0.0	.	288	Q8NGL6	O4A15_HUMAN	M	288	ENSP00000325065:R288M	ENSP00000325065:R288M	R	+	2	0	OR4A15	54892798	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-0.759000	0.04761	0.236000	0.21180	0.492000	0.49549	AGG	OR4A15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181958		0.408	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	384	0.00	0	G	NM_001005275		55136222	55136222	+1	no_errors	ENST00000314706	ensembl	human	known	69_37n	missense	218	18.35	49	SNP	0.000	T
OR4D10	390197	genome.wustl.edu	37	11	59245446	59245446	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr11:59245446C>T	ENST00000530162.1	+	1	601	c.544C>T	c.(544-546)Cac>Tac	p.H182Y		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H182Y(1)|p.H180Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGTGATGTCCACCGGGTCCT	0.493																																						dbGAP											2	Substitution - Missense(2)	breast(2)											105.0	105.0	105.0					11																	59245446		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.544C>T	11.37:g.59245446C>T	ENSP00000436424:p.His182Tyr		B2RNH6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H182Y	ENST00000530162.1	37	c.544	CCDS53636.1	11	.	.	.	.	.	.	.	.	.	.	C	4.403	0.074540	0.08485	.	.	ENSG00000254466	ENST00000530162	T	0.00084	8.75	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.05510	-0.035	0.09310	N	0.99999	B	0.02656	0.0	B	0.06405	0.002	T	0.34079	-0.9843	9	0.02654	T	1	.	16.5977	0.84801	0.0:1.0:0.0:0.0	.	182	Q8NGI6	OR4DA_HUMAN	Y	182	ENSP00000436424:H182Y	ENSP00000436424:H182Y	H	+	1	0	OR4D10	59002022	0.000000	0.05858	0.992000	0.48379	0.415000	0.31203	0.080000	0.14802	2.311000	0.77944	0.655000	0.94253	CAC	OR4D10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000254466		0.493	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	65	0.00	0	C	NM_001004705		59245446	59245446	+1	no_errors	ENST00000530162	ensembl	human	known	69_37n	missense	59	45.87	50	SNP	0.587	T
OR4D10	390197	genome.wustl.edu	37	11	59245446	59245446	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr11:59245446C>T	ENST00000530162.1	+	1	601	c.544C>T	c.(544-546)Cac>Tac	p.H182Y		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H182Y(1)|p.H180Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGTGATGTCCACCGGGTCCT	0.493																																						dbGAP											2	Substitution - Missense(2)	breast(2)											105.0	105.0	105.0					11																	59245446		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.544C>T	11.37:g.59245446C>T	ENSP00000436424:p.His182Tyr		B2RNH6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H182Y	ENST00000530162.1	37	c.544	CCDS53636.1	11	.	.	.	.	.	.	.	.	.	.	C	4.403	0.074540	0.08485	.	.	ENSG00000254466	ENST00000530162	T	0.00084	8.75	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.05510	-0.035	0.09310	N	0.99999	B	0.02656	0.0	B	0.06405	0.002	T	0.34079	-0.9843	9	0.02654	T	1	.	16.5977	0.84801	0.0:1.0:0.0:0.0	.	182	Q8NGI6	OR4DA_HUMAN	Y	182	ENSP00000436424:H182Y	ENSP00000436424:H182Y	H	+	1	0	OR4D10	59002022	0.000000	0.05858	0.992000	0.48379	0.415000	0.31203	0.080000	0.14802	2.311000	0.77944	0.655000	0.94253	CAC	OR4D10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000254466		0.493	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	95	0.00	0	C	NM_001004705		59245446	59245446	+1	no_errors	ENST00000530162	ensembl	human	known	69_37n	missense	59	45.87	50	SNP	0.587	T
P2RY1	5028	genome.wustl.edu	37	3	152554206	152554206	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr3:152554206G>A	ENST00000305097.3	+	1	1471	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	212					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.R212Q(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GAGTACCTGCGAAGTTATTTC	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											168.0	153.0	158.0					3																	152554206		2203	4300	6503	-	-	-	SO:0001583	missense	0			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.635G>A	3.37:g.152554206G>A	ENSP00000304767:p.Arg212Gln			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.R212Q	ENST00000305097.3	37	c.635	CCDS3169.1	3	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120345	0.56613	.	.	ENSG00000169860	ENST00000305097	T	0.20463	2.07	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.071981	0.53938	D	0.000046	T	0.21841	0.0526	N	0.17312	0.475	0.47819	D	0.999522	D	0.58268	0.982	P	0.51999	0.687	T	0.03463	-1.1034	10	0.13853	T	0.58	.	18.5333	0.91000	0.0:0.0:1.0:0.0	.	212	P47900	P2RY1_HUMAN	Q	212	ENSP00000304767:R212Q	ENSP00000304767:R212Q	R	+	2	0	P2RY1	154036896	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.969000	0.70422	2.600000	0.87896	0.655000	0.94253	CGA	P2RY1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000169860		0.512	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	HGNC	protein_coding	OTTHUMT00000356943.1	118	0.00	0	G	NM_002563		152554206	152554206	+1	no_errors	ENST00000305097	ensembl	human	known	69_37n	missense	136	20.00	34	SNP	0.999	A
P2RY1	5028	genome.wustl.edu	37	3	152554206	152554206	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr3:152554206G>A	ENST00000305097.3	+	1	1471	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	212					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.R212Q(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GAGTACCTGCGAAGTTATTTC	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											168.0	153.0	158.0					3																	152554206		2203	4300	6503	-	-	-	SO:0001583	missense	0			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.635G>A	3.37:g.152554206G>A	ENSP00000304767:p.Arg212Gln			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.R212Q	ENST00000305097.3	37	c.635	CCDS3169.1	3	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120345	0.56613	.	.	ENSG00000169860	ENST00000305097	T	0.20463	2.07	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.071981	0.53938	D	0.000046	T	0.21841	0.0526	N	0.17312	0.475	0.47819	D	0.999522	D	0.58268	0.982	P	0.51999	0.687	T	0.03463	-1.1034	10	0.13853	T	0.58	.	18.5333	0.91000	0.0:0.0:1.0:0.0	.	212	P47900	P2RY1_HUMAN	Q	212	ENSP00000304767:R212Q	ENSP00000304767:R212Q	R	+	2	0	P2RY1	154036896	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.969000	0.70422	2.600000	0.87896	0.655000	0.94253	CGA	P2RY1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000169860		0.512	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	HGNC	protein_coding	OTTHUMT00000356943.1	83	0.00	0	G	NM_002563		152554206	152554206	+1	no_errors	ENST00000305097	ensembl	human	known	69_37n	missense	136	20.00	34	SNP	0.999	A
PCED1B	91523	genome.wustl.edu	37	12	47629963	47629963	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr12:47629963T>A	ENST00000546455.1	+	4	1848	c.1117T>A	c.(1117-1119)Ttt>Att	p.F373I	PCED1B_ENST00000432328.1_Missense_Mutation_p.F373I|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	373	Pro-rich.						hydrolase activity (GO:0016787)	p.F373I(1)									CGAAGACAATTTTATGGTTGG	0.522																																						dbGAP											1	Substitution - Missense(1)	breast(1)											154.0	149.0	151.0					12																	47629963		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1117T>A	12.37:g.47629963T>A	ENSP00000446688:p.Phe373Ile		Q96B20	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.F373I	ENST00000546455.1	37	c.1117	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	T	18.25	3.583408	0.65992	.	.	ENSG00000179715	ENST00000546455;ENST00000432328	T;T	0.38560	1.13;1.13	3.94	3.94	0.45596	.	0.159236	0.28624	N	0.014700	T	0.34048	0.0884	L	0.32530	0.975	0.09310	N	1	P	0.50272	0.933	P	0.45913	0.497	T	0.12837	-1.0532	9	.	.	.	-1.5469	9.4886	0.38944	0.0:0.0:0.0:1.0	.	373	Q96HM7	F113B_HUMAN	I	373	ENSP00000446688:F373I;ENSP00000396040:F373I	.	F	+	1	0	FAM113B	45916230	0.649000	0.27322	0.017000	0.16124	0.001000	0.01503	2.971000	0.49248	2.017000	0.59298	0.533000	0.62120	TTT	PCED1B	-	NULL	ENSG00000179715		0.522	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	103	0.00	0	T	NM_138371		47629963	47629963	+1	no_errors	ENST00000432328	ensembl	human	known	69_37n	missense	93	15.45	17	SNP	0.023	A
PCED1B	91523	genome.wustl.edu	37	12	47629963	47629963	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr12:47629963T>A	ENST00000546455.1	+	4	1848	c.1117T>A	c.(1117-1119)Ttt>Att	p.F373I	PCED1B_ENST00000432328.1_Missense_Mutation_p.F373I|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	373	Pro-rich.						hydrolase activity (GO:0016787)	p.F373I(1)									CGAAGACAATTTTATGGTTGG	0.522																																						dbGAP											1	Substitution - Missense(1)	breast(1)											154.0	149.0	151.0					12																	47629963		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1117T>A	12.37:g.47629963T>A	ENSP00000446688:p.Phe373Ile		Q96B20	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.F373I	ENST00000546455.1	37	c.1117	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	T	18.25	3.583408	0.65992	.	.	ENSG00000179715	ENST00000546455;ENST00000432328	T;T	0.38560	1.13;1.13	3.94	3.94	0.45596	.	0.159236	0.28624	N	0.014700	T	0.34048	0.0884	L	0.32530	0.975	0.09310	N	1	P	0.50272	0.933	P	0.45913	0.497	T	0.12837	-1.0532	9	.	.	.	-1.5469	9.4886	0.38944	0.0:0.0:0.0:1.0	.	373	Q96HM7	F113B_HUMAN	I	373	ENSP00000446688:F373I;ENSP00000396040:F373I	.	F	+	1	0	FAM113B	45916230	0.649000	0.27322	0.017000	0.16124	0.001000	0.01503	2.971000	0.49248	2.017000	0.59298	0.533000	0.62120	TTT	PCED1B	-	NULL	ENSG00000179715		0.522	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	77	0.00	0	T	NM_138371		47629963	47629963	+1	no_errors	ENST00000432328	ensembl	human	known	69_37n	missense	93	15.45	17	SNP	0.023	A
PIK3CA	5290	genome.wustl.edu	37	3	178936074	178936074	+	Missense_Mutation	SNP	C	C	G	rs121913285		TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr3:178936074C>G	ENST00000263967.3	+	10	1773	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	539	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.P539R(17)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACACGAGATCCTCTCTCTGAA	0.328	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	17	Substitution - Missense(17)	breast(12)|thyroid(1)|large_intestine(1)|central_nervous_system(1)|endometrium(1)|lung(1)											53.0	53.0	53.0					3																	178936074		1806	4068	5874	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1616C>G	3.37:g.178936074C>G	ENSP00000263967:p.Pro539Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P539R	ENST00000263967.3	37	c.1616	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987372	0.93106	.	.	ENSG00000121879	ENST00000263967	D	0.89270	-2.49	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	M	0.80332	2.49	0.80722	D	1	D	0.59357	0.985	D	0.63192	0.912	D	0.94197	0.7446	10	0.59425	D	0.04	-26.0829	20.0024	0.97423	0.0:1.0:0.0:0.0	.	539	P42336	PK3CA_HUMAN	R	539	ENSP00000263967:P539R	ENSP00000263967:P539R	P	+	2	0	PIK3CA	180418768	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CCT	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	126	0.00	0	C			178936074	178936074	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	98	43.10	75	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178936074	178936074	+	Missense_Mutation	SNP	C	C	G	rs121913285		TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr3:178936074C>G	ENST00000263967.3	+	10	1773	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	539	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.P539R(17)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACACGAGATCCTCTCTCTGAA	0.328	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	17	Substitution - Missense(17)	breast(12)|thyroid(1)|large_intestine(1)|central_nervous_system(1)|endometrium(1)|lung(1)											53.0	53.0	53.0					3																	178936074		1806	4068	5874	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1616C>G	3.37:g.178936074C>G	ENSP00000263967:p.Pro539Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P539R	ENST00000263967.3	37	c.1616	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987372	0.93106	.	.	ENSG00000121879	ENST00000263967	D	0.89270	-2.49	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	M	0.80332	2.49	0.80722	D	1	D	0.59357	0.985	D	0.63192	0.912	D	0.94197	0.7446	10	0.59425	D	0.04	-26.0829	20.0024	0.97423	0.0:1.0:0.0:0.0	.	539	P42336	PK3CA_HUMAN	R	539	ENSP00000263967:P539R	ENSP00000263967:P539R	P	+	2	0	PIK3CA	180418768	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CCT	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	156	0.00	0	C			178936074	178936074	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	98	43.10	75	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	100	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	60	29.41	25	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	82	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	60	29.41	25	SNP	1.000	G
RARS	5917	genome.wustl.edu	37	5	167927622	167927622	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr5:167927622G>C	ENST00000231572.3	+	8	903	c.849G>C	c.(847-849)gaG>gaC	p.E283D	RARS_ENST00000520421.1_3'UTR|RARS_ENST00000538719.1_Missense_Mutation_p.E77D	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	283					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.E283D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TTGATACTGAGGAGGAATTTA	0.353																																						dbGAP											1	Substitution - Missense(1)	breast(1)											65.0	68.0	67.0					5																	167927622		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.849G>C	5.37:g.167927622G>C	ENSP00000231572:p.Glu283Asp		B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia	p.E283D	ENST00000231572.3	37	c.849	CCDS4367.1	5	.	.	.	.	.	.	.	.	.	.	G	3.206	-0.162565	0.06502	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.66280	-0.2;-0.2	5.37	-0.768	0.11013	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.158579	0.56097	N	0.000022	T	0.17109	0.0411	N	0.00403	-1.54	0.31059	N	0.714326	B	0.02656	0.0	B	0.04013	0.001	T	0.35525	-0.9785	10	0.02654	T	1	-26.8784	4.2348	0.10620	0.3276:0.0:0.4355:0.2369	.	283	P54136	SYRC_HUMAN	D	283;77	ENSP00000231572:E283D;ENSP00000439108:E77D	ENSP00000231572:E283D	E	+	3	2	RARS	167860200	1.000000	0.71417	0.951000	0.38953	0.998000	0.95712	0.638000	0.24674	-0.407000	0.07576	0.591000	0.81541	GAG	RARS	-	pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia	ENSG00000113643		0.353	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2	144	0.00	0	G	NM_002887		167927622	167927622	+1	no_errors	ENST00000231572	ensembl	human	known	69_37n	missense	113	35.59	63	SNP	0.969	C
RARS	5917	genome.wustl.edu	37	5	167927622	167927622	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr5:167927622G>C	ENST00000231572.3	+	8	903	c.849G>C	c.(847-849)gaG>gaC	p.E283D	RARS_ENST00000520421.1_3'UTR|RARS_ENST00000538719.1_Missense_Mutation_p.E77D	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	283					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.E283D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TTGATACTGAGGAGGAATTTA	0.353																																						dbGAP											1	Substitution - Missense(1)	breast(1)											65.0	68.0	67.0					5																	167927622		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.849G>C	5.37:g.167927622G>C	ENSP00000231572:p.Glu283Asp		B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia	p.E283D	ENST00000231572.3	37	c.849	CCDS4367.1	5	.	.	.	.	.	.	.	.	.	.	G	3.206	-0.162565	0.06502	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.66280	-0.2;-0.2	5.37	-0.768	0.11013	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.158579	0.56097	N	0.000022	T	0.17109	0.0411	N	0.00403	-1.54	0.31059	N	0.714326	B	0.02656	0.0	B	0.04013	0.001	T	0.35525	-0.9785	10	0.02654	T	1	-26.8784	4.2348	0.10620	0.3276:0.0:0.4355:0.2369	.	283	P54136	SYRC_HUMAN	D	283;77	ENSP00000231572:E283D;ENSP00000439108:E77D	ENSP00000231572:E283D	E	+	3	2	RARS	167860200	1.000000	0.71417	0.951000	0.38953	0.998000	0.95712	0.638000	0.24674	-0.407000	0.07576	0.591000	0.81541	GAG	RARS	-	pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia	ENSG00000113643		0.353	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2	196	0.00	0	G	NM_002887		167927622	167927622	+1	no_errors	ENST00000231572	ensembl	human	known	69_37n	missense	113	35.59	63	SNP	0.969	C
RHAG	6005	genome.wustl.edu	37	6	49580246	49580246	+	Splice_Site	SNP	A	A	G			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr6:49580246A>G	ENST00000371175.4	-	6	835	c.809T>C	c.(808-810)gTt>gCt	p.V270A	RHAG_ENST00000229810.7_Splice_Site_p.V270A	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	270			V -> I (in RHN; dbSNP:rs16879498). {ECO:0000269|PubMed:10467273, ECO:0000269|PubMed:14702039}.		ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.V270A(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTGAATGTGAACCTGTGTGAG	0.463																																					Ovarian(176;476 2003 7720 43408 44749)	dbGAP											1	Substitution - Missense(1)	breast(1)											72.0	63.0	66.0					6																	49580246		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.808-1T>C	6.37:g.49580246A>G			B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.V270A	ENST00000371175.4	37	c.809	CCDS4927.1	6	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371552	0.82573	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.25085	1.82;1.82	5.54	5.54	0.83059	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	M	0.78285	2.405	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.985	P;D;D	0.66351	0.907;0.943;0.943	T	0.39860	-0.9593	10	0.51188	T	0.08	-30.9614	14.8574	0.70347	1.0:0.0:0.0:0.0	.	270;270;270	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	A	270	ENSP00000360217:V270A;ENSP00000229810:V270A	ENSP00000229810:V270A	V	-	2	0	RHAG	49688205	1.000000	0.71417	0.997000	0.53966	0.848000	0.48234	6.297000	0.72757	2.102000	0.63906	0.533000	0.62120	GTT	RHAG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like	ENSG00000112077		0.463	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHAG	HGNC	protein_coding	OTTHUMT00000043806.1	32	0.00	0	A		Missense_Mutation	49580246	49580246	-1	no_errors	ENST00000371175	ensembl	human	known	69_37n	missense	35	41.67	25	SNP	1.000	G
RHAG	6005	genome.wustl.edu	37	6	49580246	49580246	+	Splice_Site	SNP	A	A	G			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr6:49580246A>G	ENST00000371175.4	-	6	835	c.809T>C	c.(808-810)gTt>gCt	p.V270A	RHAG_ENST00000229810.7_Splice_Site_p.V270A	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	270			V -> I (in RHN; dbSNP:rs16879498). {ECO:0000269|PubMed:10467273, ECO:0000269|PubMed:14702039}.		ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.V270A(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTGAATGTGAACCTGTGTGAG	0.463																																					Ovarian(176;476 2003 7720 43408 44749)	dbGAP											1	Substitution - Missense(1)	breast(1)											72.0	63.0	66.0					6																	49580246		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.808-1T>C	6.37:g.49580246A>G			B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.V270A	ENST00000371175.4	37	c.809	CCDS4927.1	6	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371552	0.82573	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.25085	1.82;1.82	5.54	5.54	0.83059	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	M	0.78285	2.405	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.985	P;D;D	0.66351	0.907;0.943;0.943	T	0.39860	-0.9593	10	0.51188	T	0.08	-30.9614	14.8574	0.70347	1.0:0.0:0.0:0.0	.	270;270;270	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	A	270	ENSP00000360217:V270A;ENSP00000229810:V270A	ENSP00000229810:V270A	V	-	2	0	RHAG	49688205	1.000000	0.71417	0.997000	0.53966	0.848000	0.48234	6.297000	0.72757	2.102000	0.63906	0.533000	0.62120	GTT	RHAG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like	ENSG00000112077		0.463	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHAG	HGNC	protein_coding	OTTHUMT00000043806.1	54	0.00	0	A		Missense_Mutation	49580246	49580246	-1	no_errors	ENST00000371175	ensembl	human	known	69_37n	missense	35	41.67	25	SNP	1.000	G
RNLS	55328	genome.wustl.edu	37	10	90332770	90332772	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr10:90332770_90332772delTCT	ENST00000331772.4	-	4	436_438	c.414_416delAGA	c.(412-417)agagat>agt	p.138_139RD>S	RNLS_ENST00000466945.1_Intron|RNLS_ENST00000437752.1_In_Frame_Del_p.55_56RD>S|RNLS_ENST00000371947.3_In_Frame_Del_p.138_139RD>S	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	138					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)	p.R138_D139>S(1)		breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CCATTTGTCATCTCTTAGGTTGA	0.414																																						dbGAP											1	Complex - deletion inframe(1)	breast(1)																																								-	-	-	SO:0001651	inframe_deletion	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.414_416delAGA	10.37:g.90332770_90332772delTCT	ENSP00000332530:p.Arg138_Asp139delinsSer		Q9BS33|Q9NUP8	In_Frame_Del	DEL	pfam_Amino_oxidase	p.RD138in_frame_delS	ENST00000331772.4	37	c.416_414	CCDS31239.1	10																																																																																			RNLS	-	pfam_Amino_oxidase	ENSG00000184719		0.414	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	114	0.00	0	TCT	NM_018363		90332770	90332772	-1	no_errors	ENST00000331772	ensembl	human	known	69_37n	in_frame_del	176	15.64	33	DEL	0.035:0.010:0.007	-
RNLS	55328	genome.wustl.edu	37	10	90332770	90332772	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr10:90332770_90332772delTCT	ENST00000331772.4	-	4	436_438	c.414_416delAGA	c.(412-417)agagat>agt	p.138_139RD>S	RNLS_ENST00000466945.1_Intron|RNLS_ENST00000437752.1_In_Frame_Del_p.55_56RD>S|RNLS_ENST00000371947.3_In_Frame_Del_p.138_139RD>S	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	138					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)	p.R138_D139>S(1)		breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CCATTTGTCATCTCTTAGGTTGA	0.414																																						dbGAP											1	Complex - deletion inframe(1)	breast(1)																																								-	-	-	SO:0001651	inframe_deletion	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.414_416delAGA	10.37:g.90332770_90332772delTCT	ENSP00000332530:p.Arg138_Asp139delinsSer		Q9BS33|Q9NUP8	In_Frame_Del	DEL	pfam_Amino_oxidase	p.RD138in_frame_delS	ENST00000331772.4	37	c.416_414	CCDS31239.1	10																																																																																			RNLS	-	pfam_Amino_oxidase	ENSG00000184719		0.414	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	83	0.00	0	TCT	NM_018363		90332770	90332772	-1	no_errors	ENST00000331772	ensembl	human	known	69_37n	in_frame_del	176	15.64	33	DEL	0.035:0.010:0.007	-
SERPINE3	647174	genome.wustl.edu	37	13	51922387	51922387	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr13:51922387C>A	ENST00000521255.1	+	4	799	c.739C>A	c.(739-741)Ctg>Atg	p.L247M	MIR5693_ENST00000577722.1_RNA|SERPINE3_ENST00000400389.4_Missense_Mutation_p.L247M|SERPINE3_ENST00000524365.1_Missense_Mutation_p.L247M	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	247					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L247M(1)		ovary(2)	2						GGTGGGGGTGCTGGAGCTTCC	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											42.0	58.0	53.0					13																	51922387		2073	4208	6281	-	-	-	SO:0001583	missense	0			AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.739C>A	13.37:g.51922387C>A	ENSP00000428316:p.Leu247Met		B1V8P3	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L247M	ENST00000521255.1	37	c.739	CCDS53870.1	13	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301446	0.60195	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	T;T;T	0.32753	1.44;1.44;1.44	5.19	4.33	0.51752	Serpin domain (3);	0.152172	0.27554	U	0.018841	T	0.58250	0.2109	M	0.90705	3.14	0.39485	D	0.967949	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.65356	-0.6188	10	0.87932	D	0	.	7.9358	0.29929	0.0:0.6633:0.2512:0.0855	.	247;247	A8MV23-2;A8MV23	.;SERP3_HUMAN	M	247	ENSP00000430755:L247M;ENSP00000428316:L247M;ENSP00000441468:L247M	ENSP00000441468:L247M	L	+	1	2	SERPINE3	50820388	0.238000	0.23825	0.904000	0.35570	0.861000	0.49209	0.463000	0.21972	1.401000	0.46761	0.655000	0.94253	CTG	SERPINE3	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000253309		0.597	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SERPINE3	HGNC	protein_coding	OTTHUMT00000045021.2	28	0.00	0	C	NM_001101320		51922387	51922387	+1	no_errors	ENST00000521255	ensembl	human	known	69_37n	missense	134	17.28	28	SNP	0.996	A
SERPINE3	647174	genome.wustl.edu	37	13	51922387	51922387	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr13:51922387C>A	ENST00000521255.1	+	4	799	c.739C>A	c.(739-741)Ctg>Atg	p.L247M	MIR5693_ENST00000577722.1_RNA|SERPINE3_ENST00000400389.4_Missense_Mutation_p.L247M|SERPINE3_ENST00000524365.1_Missense_Mutation_p.L247M	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	247					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L247M(1)		ovary(2)	2						GGTGGGGGTGCTGGAGCTTCC	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											42.0	58.0	53.0					13																	51922387		2073	4208	6281	-	-	-	SO:0001583	missense	0			AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.739C>A	13.37:g.51922387C>A	ENSP00000428316:p.Leu247Met		B1V8P3	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L247M	ENST00000521255.1	37	c.739	CCDS53870.1	13	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301446	0.60195	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	T;T;T	0.32753	1.44;1.44;1.44	5.19	4.33	0.51752	Serpin domain (3);	0.152172	0.27554	U	0.018841	T	0.58250	0.2109	M	0.90705	3.14	0.39485	D	0.967949	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.65356	-0.6188	10	0.87932	D	0	.	7.9358	0.29929	0.0:0.6633:0.2512:0.0855	.	247;247	A8MV23-2;A8MV23	.;SERP3_HUMAN	M	247	ENSP00000430755:L247M;ENSP00000428316:L247M;ENSP00000441468:L247M	ENSP00000441468:L247M	L	+	1	2	SERPINE3	50820388	0.238000	0.23825	0.904000	0.35570	0.861000	0.49209	0.463000	0.21972	1.401000	0.46761	0.655000	0.94253	CTG	SERPINE3	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000253309		0.597	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SERPINE3	HGNC	protein_coding	OTTHUMT00000045021.2	41	0.00	0	C	NM_001101320		51922387	51922387	+1	no_errors	ENST00000521255	ensembl	human	known	69_37n	missense	134	17.28	28	SNP	0.996	A
SORCS3	22986	genome.wustl.edu	37	10	106974227	106974227	+	Silent	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr10:106974227C>T	ENST00000369701.3	+	18	2630	c.2403C>T	c.(2401-2403)tgC>tgT	p.C801C	SORCS3_ENST00000369699.4_Silent_p.C87C	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	801					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.C801C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCAACAACTGCACAGATGGGC	0.527																																					NSCLC(116;1497 1690 7108 13108 14106)	dbGAP											1	Substitution - coding silent(1)	breast(1)											122.0	103.0	109.0					10																	106974227		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2403C>T	10.37:g.106974227C>T			Q5VXF9|Q9NQJ2	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.C801	ENST00000369701.3	37	c.2403	CCDS7558.1	10																																																																																			SORCS3	-	superfamily_PKD_dom,smart_VPS10	ENSG00000156395		0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	49	0.00	0	C	NM_014978		106974227	106974227	+1	no_errors	ENST00000369701	ensembl	human	known	69_37n	silent	83	17.82	18	SNP	1.000	T
SORCS3	22986	genome.wustl.edu	37	10	106974227	106974227	+	Silent	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr10:106974227C>T	ENST00000369701.3	+	18	2630	c.2403C>T	c.(2401-2403)tgC>tgT	p.C801C	SORCS3_ENST00000369699.4_Silent_p.C87C	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	801					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.C801C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCAACAACTGCACAGATGGGC	0.527																																					NSCLC(116;1497 1690 7108 13108 14106)	dbGAP											1	Substitution - coding silent(1)	breast(1)											122.0	103.0	109.0					10																	106974227		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2403C>T	10.37:g.106974227C>T			Q5VXF9|Q9NQJ2	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.C801	ENST00000369701.3	37	c.2403	CCDS7558.1	10																																																																																			SORCS3	-	superfamily_PKD_dom,smart_VPS10	ENSG00000156395		0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	61	0.00	0	C	NM_014978		106974227	106974227	+1	no_errors	ENST00000369701	ensembl	human	known	69_37n	silent	83	17.82	18	SNP	1.000	T
SPEN	23013	genome.wustl.edu	37	1	16257012	16257012	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr1:16257012T>A	ENST00000375759.3	+	11	4481	c.4277T>A	c.(4276-4278)tTa>tAa	p.L1426*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1426					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.L1426*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTAGTTCTTTAGAAAGGAAC	0.393																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											83.0	85.0	84.0					1																	16257012		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4277T>A	1.37:g.16257012T>A	ENSP00000364912:p.Leu1426*		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.L1426*	ENST00000375759.3	37	c.4277	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	T	44	10.601994	0.99435	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.007	15.3637	0.74503	0.0:0.0:0.0:1.0	.	.	.	.	X	1426	.	ENSP00000364912:L1426X	L	+	2	0	SPEN	16129599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.039000	0.76544	2.216000	0.71823	0.460000	0.39030	TTA	SPEN	-	NULL	ENSG00000065526		0.393	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	62	0.00	0	T	NM_015001		16257012	16257012	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	nonsense	37	69.92	86	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16257012	16257012	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr1:16257012T>A	ENST00000375759.3	+	11	4481	c.4277T>A	c.(4276-4278)tTa>tAa	p.L1426*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1426					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.L1426*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTAGTTCTTTAGAAAGGAAC	0.393																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											83.0	85.0	84.0					1																	16257012		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4277T>A	1.37:g.16257012T>A	ENSP00000364912:p.Leu1426*		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.L1426*	ENST00000375759.3	37	c.4277	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	T	44	10.601994	0.99435	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.007	15.3637	0.74503	0.0:0.0:0.0:1.0	.	.	.	.	X	1426	.	ENSP00000364912:L1426X	L	+	2	0	SPEN	16129599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.039000	0.76544	2.216000	0.71823	0.460000	0.39030	TTA	SPEN	-	NULL	ENSG00000065526		0.393	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	80	0.00	0	T	NM_015001		16257012	16257012	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	nonsense	37	69.92	86	SNP	1.000	A
TMEM151B	441151	genome.wustl.edu	37	6	44241139	44241139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr6:44241139C>T	ENST00000451188.2	+	2	749	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	TMEM151B_ENST00000438774.2_Nonsense_Mutation_p.Q158*|RP11-444E17.6_ENST00000505802.1_Missense_Mutation_p.A70V	NM_001137560.1	NP_001131032.1	Q8IW70	T151B_HUMAN	transmembrane protein 151B	158						integral component of membrane (GO:0016021)		p.Q158*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)	6						CCGCATGCAGCAAGCCACGCC	0.627																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											88.0	76.0	80.0					6																	44241139		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AK126839	CCDS47437.1	6p21.1	2009-04-17	2007-10-25	2007-10-25	ENSG00000178233	ENSG00000178233			21315	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 137"", ""transmembrane protein 193"""	C6orf137, TMEM193			Standard	NM_001137560		Approved	bA444E17.5	uc003oxh.2	Q8IW70	OTTHUMG00000014765	ENST00000451188.2:c.472C>T	6.37:g.44241139C>T	ENSP00000393161:p.Gln158*		Q5T9V7	Nonsense_Mutation	SNP	NULL	p.Q158*	ENST00000451188.2	37	c.472	CCDS47437.1	6	.	.	.	.	.	.	.	.	.	.	C	40	8.097652	0.98651	.	.	ENSG00000178233	ENST00000451188;ENST00000438774;ENST00000430110	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	17.8638	0.88790	0.0:1.0:0.0:0.0	.	.	.	.	X	158	.	ENSP00000410997:Q158X	Q	+	1	0	TMEM151B	44349117	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.843000	0.62838	2.443000	0.82685	0.442000	0.29010	CAA	TMEM151B	-	NULL	ENSG00000178233		0.627	TMEM151B-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TMEM151B	HGNC	protein_coding	OTTHUMT00000040740.2	17	0.00	0	C	NM_001039704		44241139	44241139	+1	no_errors	ENST00000451188	ensembl	human	known	69_37n	nonsense	53	19.70	13	SNP	1.000	T
TMEM151B	441151	genome.wustl.edu	37	6	44241139	44241139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr6:44241139C>T	ENST00000451188.2	+	2	749	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	TMEM151B_ENST00000438774.2_Nonsense_Mutation_p.Q158*|RP11-444E17.6_ENST00000505802.1_Missense_Mutation_p.A70V	NM_001137560.1	NP_001131032.1	Q8IW70	T151B_HUMAN	transmembrane protein 151B	158						integral component of membrane (GO:0016021)		p.Q158*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)	6						CCGCATGCAGCAAGCCACGCC	0.627																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											88.0	76.0	80.0					6																	44241139		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AK126839	CCDS47437.1	6p21.1	2009-04-17	2007-10-25	2007-10-25	ENSG00000178233	ENSG00000178233			21315	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 137"", ""transmembrane protein 193"""	C6orf137, TMEM193			Standard	NM_001137560		Approved	bA444E17.5	uc003oxh.2	Q8IW70	OTTHUMG00000014765	ENST00000451188.2:c.472C>T	6.37:g.44241139C>T	ENSP00000393161:p.Gln158*		Q5T9V7	Nonsense_Mutation	SNP	NULL	p.Q158*	ENST00000451188.2	37	c.472	CCDS47437.1	6	.	.	.	.	.	.	.	.	.	.	C	40	8.097652	0.98651	.	.	ENSG00000178233	ENST00000451188;ENST00000438774;ENST00000430110	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	17.8638	0.88790	0.0:1.0:0.0:0.0	.	.	.	.	X	158	.	ENSP00000410997:Q158X	Q	+	1	0	TMEM151B	44349117	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.843000	0.62838	2.443000	0.82685	0.442000	0.29010	CAA	TMEM151B	-	NULL	ENSG00000178233		0.627	TMEM151B-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TMEM151B	HGNC	protein_coding	OTTHUMT00000040740.2	19	0.00	0	C	NM_001039704		44241139	44241139	+1	no_errors	ENST00000451188	ensembl	human	known	69_37n	nonsense	53	19.70	13	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179585182	179585182	+	Silent	SNP	G	G	A	rs185860746	byFrequency	TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr2:179585182G>A	ENST00000591111.1	-	78	22580	c.22356C>T	c.(22354-22356)gtC>gtT	p.V7452V	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.V7769V|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V6525V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13011	Ig-like 56.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V6525V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATATTCCCCGACATCGGAGG	0.368													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20897	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	breast(1)											133.0	123.0	126.0					2																	179585182		1859	4102	5961	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22356C>T	2.37:g.179585182G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V6525	ENST00000591111.1	37	c.19575		2																																																																																			TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000155657		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	170	0.00	0	G	NM_133378		179585182	179585182	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	160	24.41	52	SNP	0.069	A
TTN	7273	genome.wustl.edu	37	2	179585182	179585182	+	Silent	SNP	G	G	A	rs185860746	byFrequency	TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr2:179585182G>A	ENST00000591111.1	-	78	22580	c.22356C>T	c.(22354-22356)gtC>gtT	p.V7452V	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.V7769V|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V6525V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13011	Ig-like 56.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V6525V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATATTCCCCGACATCGGAGG	0.368													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20897	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	breast(1)											133.0	123.0	126.0					2																	179585182		1859	4102	5961	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22356C>T	2.37:g.179585182G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V6525	ENST00000591111.1	37	c.19575		2																																																																																			TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000155657		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	226	0.00	0	G	NM_133378		179585182	179585182	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	160	24.41	52	SNP	0.069	A
UBE2E3	10477	genome.wustl.edu	37	2	181925537	181925537	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr2:181925537C>T	ENST00000410062.4	+	5	917	c.524C>T	c.(523-525)cCt>cTt	p.P175L	UBE2E3_ENST00000602959.1_Missense_Mutation_p.P175L|UBE2E3_ENST00000602710.1_Missense_Mutation_p.P175L|UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000392415.2_Missense_Mutation_p.P175L	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	175					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.P175L(1)		breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						GACTGCAACCCTGGTAAGCAA	0.333																																						dbGAP											1	Substitution - Missense(1)	breast(1)											91.0	86.0	88.0					2																	181925537		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"""Ubiquitin-conjugating enzymes E2"""	12479	protein-coding gene	gene with protein product		604151	"""ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"""			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.524C>T	2.37:g.181925537C>T	ENSP00000386788:p.Pro175Leu		B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P175L	ENST00000410062.4	37	c.524	CCDS2282.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.404464	0.96051	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000392415;ENST00000410062;ENST00000409247	T;T	0.73047	-0.71;-0.71	6.05	6.05	0.98169	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.86994	0.6067	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87480	0.2420	10	0.87932	D	0	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	175	Q969T4	UB2E3_HUMAN	L	175	ENSP00000376215:P175L;ENSP00000386788:P175L	ENSP00000376215:P175L	P	+	2	0	UBE2E3	181633782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CCT	UBE2E3	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000170035		0.333	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E3	HGNC	protein_coding	OTTHUMT00000255795.6	147	0.00	0	C	NM_006357		181925537	181925537	+1	no_errors	ENST00000392415	ensembl	human	known	69_37n	missense	164	20.00	41	SNP	1.000	T
UBE2E3	10477	genome.wustl.edu	37	2	181925537	181925537	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr2:181925537C>T	ENST00000410062.4	+	5	917	c.524C>T	c.(523-525)cCt>cTt	p.P175L	UBE2E3_ENST00000602959.1_Missense_Mutation_p.P175L|UBE2E3_ENST00000602710.1_Missense_Mutation_p.P175L|UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000392415.2_Missense_Mutation_p.P175L	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	175					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.P175L(1)		breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						GACTGCAACCCTGGTAAGCAA	0.333																																						dbGAP											1	Substitution - Missense(1)	breast(1)											91.0	86.0	88.0					2																	181925537		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"""Ubiquitin-conjugating enzymes E2"""	12479	protein-coding gene	gene with protein product		604151	"""ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"""			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.524C>T	2.37:g.181925537C>T	ENSP00000386788:p.Pro175Leu		B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P175L	ENST00000410062.4	37	c.524	CCDS2282.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.404464	0.96051	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000392415;ENST00000410062;ENST00000409247	T;T	0.73047	-0.71;-0.71	6.05	6.05	0.98169	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.86994	0.6067	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87480	0.2420	10	0.87932	D	0	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	175	Q969T4	UB2E3_HUMAN	L	175	ENSP00000376215:P175L;ENSP00000386788:P175L	ENSP00000376215:P175L	P	+	2	0	UBE2E3	181633782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CCT	UBE2E3	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000170035		0.333	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E3	HGNC	protein_coding	OTTHUMT00000255795.6	194	0.51	1	C	NM_006357		181925537	181925537	+1	no_errors	ENST00000392415	ensembl	human	known	69_37n	missense	164	20.00	41	SNP	1.000	T
ZNF658	26149	genome.wustl.edu	37	9	40775035	40775035	+	Splice_Site	SNP	C	C	T	rs62561230	byFrequency	TCGA-B6-A0RO-01A-22D-A099-09	TCGA-B6-A0RO-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	05e12ff8-023b-4ac1-b35d-f97b42e3da7a	87703b5d-774a-4a75-9bbf-cb58f58adcc4	g.chr9:40775035C>T	ENST00000602553.1	-	5	534	c.240G>A	c.(238-240)ggG>ggA	p.G80G	ZNF658_ENST00000441795.1_Splice_Site_p.G78G|ZNF658_ENST00000377626.3_Splice_Site_p.G80G			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTTTAAAATACCCTAAAATGA	0.299													T|||	3162	0.63139	0.6687	0.7046	5008	,	,		6646	0.748		0.6451	False		,,,				2504	0.3947					dbGAP											0													15.0	18.0	17.0					9																	40775035		714	1718	2432	-	-	-	SO:0001630	splice_region_variant	0			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.239-1G>A	9.37:g.40775035C>T			Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G80	ENST00000602553.1	37	c.240	CCDS35023.1	9																																																																																			ZNF658	-	NULL	ENSG00000196409		0.299	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	25	0.00	0	C	NM_033160	Silent	40775035	40775035	-1	no_errors	ENST00000377626	ensembl	human	known	69_37n	silent	16	15.79	3	SNP	0.002	T
