#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA5	23461	genome.wustl.edu	37	17	67260917	67260917	+	Missense_Mutation	SNP	G	G	A	rs139096664	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:67260917G>A	ENST00000392676.3	-	24	3338	c.3274C>T	c.(3274-3276)Cat>Tat	p.H1092Y	ABCA5_ENST00000392677.2_Missense_Mutation_p.H1093Y|ABCA5_ENST00000588877.1_Missense_Mutation_p.H1092Y			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1092					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AATCCATAATGAAATGCCAAT	0.308																																						dbGAP											0													49.0	50.0	50.0					17																	67260917		2203	4296	6499	-	-	-	SO:0001583	missense	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3274C>T	17.37:g.67260917G>A	ENSP00000376443:p.His1092Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H1093Y	ENST00000392676.3	37	c.3277	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	2.914	-0.224610	0.06061	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87029	-2.2;-2.2	4.68	4.68	0.58851	.	0.000000	0.56097	D	0.000032	D	0.84257	0.5432	N	0.08118	0	0.53688	D	0.999973	D	0.76494	0.999	D	0.68039	0.955	D	0.83363	0.0003	9	.	.	.	.	12.9899	0.58612	0.0:0.0:0.8383:0.1617	.	1092	Q8WWZ7	ABCA5_HUMAN	Y	1093;1092	ENSP00000376444:H1093Y;ENSP00000376443:H1092Y	.	H	-	1	0	ABCA5	64772512	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.029000	0.70895	2.321000	0.78463	0.313000	0.20887	CAT	ABCA5	-	NULL	ENSG00000154265		0.308	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	124	0.00	0	G	NM_018672		67260917	67260917	-1	no_errors	ENST00000392677	ensembl	human	known	69_37n	missense	110	22.54	32	SNP	1.000	A
ABCA5	23461	genome.wustl.edu	37	17	67260917	67260917	+	Missense_Mutation	SNP	G	G	A	rs139096664	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:67260917G>A	ENST00000392676.3	-	24	3338	c.3274C>T	c.(3274-3276)Cat>Tat	p.H1092Y	ABCA5_ENST00000392677.2_Missense_Mutation_p.H1093Y|ABCA5_ENST00000588877.1_Missense_Mutation_p.H1092Y			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1092					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AATCCATAATGAAATGCCAAT	0.308																																						dbGAP											0													49.0	50.0	50.0					17																	67260917		2203	4296	6499	-	-	-	SO:0001583	missense	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3274C>T	17.37:g.67260917G>A	ENSP00000376443:p.His1092Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H1093Y	ENST00000392676.3	37	c.3277	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	2.914	-0.224610	0.06061	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87029	-2.2;-2.2	4.68	4.68	0.58851	.	0.000000	0.56097	D	0.000032	D	0.84257	0.5432	N	0.08118	0	0.53688	D	0.999973	D	0.76494	0.999	D	0.68039	0.955	D	0.83363	0.0003	9	.	.	.	.	12.9899	0.58612	0.0:0.0:0.8383:0.1617	.	1092	Q8WWZ7	ABCA5_HUMAN	Y	1093;1092	ENSP00000376444:H1093Y;ENSP00000376443:H1092Y	.	H	-	1	0	ABCA5	64772512	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.029000	0.70895	2.321000	0.78463	0.313000	0.20887	CAT	ABCA5	-	NULL	ENSG00000154265		0.308	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	72	0.00	0	G	NM_018672		67260917	67260917	-1	no_errors	ENST00000392677	ensembl	human	known	69_37n	missense	110	22.54	32	SNP	1.000	A
ABCA8	10351	genome.wustl.edu	37	17	66881408	66881408	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:66881408C>T	ENST00000269080.2	-	25	3495	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	ABCA8_ENST00000430352.2_Missense_Mutation_p.D1160N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1160N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1120					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AATGGAATATCACTTTCGAAG	0.373																																						dbGAP											0													94.0	86.0	89.0					17																	66881408		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3358G>A	17.37:g.66881408C>T	ENSP00000269080:p.Asp1120Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D1160N	ENST00000269080.2	37	c.3478	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	C	6.468	0.454551	0.12283	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.86865	-2.18;-2.18	4.43	-2.71	0.05986	.	2.861120	0.01159	N	0.006617	T	0.73148	0.3550	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.13407	0.009;0.0;0.004	T	0.61744	-0.7000	10	0.15066	T	0.55	.	5.2336	0.15436	0.0:0.3033:0.1605:0.5362	.	1160;1160;1120	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	N	1120;1160	ENSP00000269080:D1120N;ENSP00000402814:D1160N	ENSP00000269080:D1120N	D	-	1	0	ABCA8	64393003	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.661000	0.00400	-0.424000	0.07382	-0.136000	0.14681	GAT	ABCA8	-	NULL	ENSG00000141338		0.373	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	79	0.00	0	C	NM_007168		66881408	66881408	-1	no_errors	ENST00000430352	ensembl	human	known	69_37n	missense	163	20.49	42	SNP	0.000	T
ABCA8	10351	genome.wustl.edu	37	17	66881408	66881408	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:66881408C>T	ENST00000269080.2	-	25	3495	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	ABCA8_ENST00000430352.2_Missense_Mutation_p.D1160N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1160N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1120					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AATGGAATATCACTTTCGAAG	0.373																																						dbGAP											0													94.0	86.0	89.0					17																	66881408		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3358G>A	17.37:g.66881408C>T	ENSP00000269080:p.Asp1120Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D1160N	ENST00000269080.2	37	c.3478	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	C	6.468	0.454551	0.12283	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.86865	-2.18;-2.18	4.43	-2.71	0.05986	.	2.861120	0.01159	N	0.006617	T	0.73148	0.3550	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.13407	0.009;0.0;0.004	T	0.61744	-0.7000	10	0.15066	T	0.55	.	5.2336	0.15436	0.0:0.3033:0.1605:0.5362	.	1160;1160;1120	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	N	1120;1160	ENSP00000269080:D1120N;ENSP00000402814:D1160N	ENSP00000269080:D1120N	D	-	1	0	ABCA8	64393003	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.661000	0.00400	-0.424000	0.07382	-0.136000	0.14681	GAT	ABCA8	-	NULL	ENSG00000141338		0.373	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	64	0.00	0	C	NM_007168		66881408	66881408	-1	no_errors	ENST00000430352	ensembl	human	known	69_37n	missense	163	20.49	42	SNP	0.000	T
ABCA5	23461	genome.wustl.edu	37	17	67260950	67260950	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:67260950G>C	ENST00000392676.3	-	24	3305	c.3241C>G	c.(3241-3243)Ctt>Gtt	p.L1081V	ABCA5_ENST00000392677.2_Missense_Mutation_p.L1082V|ABCA5_ENST00000588877.1_Missense_Mutation_p.L1081V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1081					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATCAAAATAAGAATGATAAAA	0.323																																						dbGAP											0													59.0	61.0	60.0					17																	67260950		2203	4295	6498	-	-	-	SO:0001583	missense	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3241C>G	17.37:g.67260950G>C	ENSP00000376443:p.Leu1081Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1082V	ENST00000392676.3	37	c.3244	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640414	0.67244	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86432	-2.12;-2.12	4.83	4.83	0.62350	.	0.000000	0.48286	D	0.000197	D	0.93719	0.7993	M	0.82323	2.585	0.58432	D	0.999994	D	0.76494	0.999	D	0.74674	0.984	D	0.93961	0.7240	9	.	.	.	.	18.2728	0.90073	0.0:0.0:1.0:0.0	.	1081	Q8WWZ7	ABCA5_HUMAN	V	1082;1081	ENSP00000376444:L1082V;ENSP00000376443:L1081V	.	L	-	1	0	ABCA5	64772545	1.000000	0.71417	0.886000	0.34754	0.904000	0.53231	6.890000	0.75633	2.402000	0.81655	0.313000	0.20887	CTT	ABCA5	-	NULL	ENSG00000154265		0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	130	0.00	0	G	NM_018672		67260950	67260950	-1	no_errors	ENST00000392677	ensembl	human	known	69_37n	missense	107	24.11	34	SNP	1.000	C
ABCA5	23461	genome.wustl.edu	37	17	67260950	67260950	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:67260950G>C	ENST00000392676.3	-	24	3305	c.3241C>G	c.(3241-3243)Ctt>Gtt	p.L1081V	ABCA5_ENST00000392677.2_Missense_Mutation_p.L1082V|ABCA5_ENST00000588877.1_Missense_Mutation_p.L1081V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1081					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATCAAAATAAGAATGATAAAA	0.323																																						dbGAP											0													59.0	61.0	60.0					17																	67260950		2203	4295	6498	-	-	-	SO:0001583	missense	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3241C>G	17.37:g.67260950G>C	ENSP00000376443:p.Leu1081Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1082V	ENST00000392676.3	37	c.3244	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640414	0.67244	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86432	-2.12;-2.12	4.83	4.83	0.62350	.	0.000000	0.48286	D	0.000197	D	0.93719	0.7993	M	0.82323	2.585	0.58432	D	0.999994	D	0.76494	0.999	D	0.74674	0.984	D	0.93961	0.7240	9	.	.	.	.	18.2728	0.90073	0.0:0.0:1.0:0.0	.	1081	Q8WWZ7	ABCA5_HUMAN	V	1082;1081	ENSP00000376444:L1082V;ENSP00000376443:L1081V	.	L	-	1	0	ABCA5	64772545	1.000000	0.71417	0.886000	0.34754	0.904000	0.53231	6.890000	0.75633	2.402000	0.81655	0.313000	0.20887	CTT	ABCA5	-	NULL	ENSG00000154265		0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	92	0.00	0	G	NM_018672		67260950	67260950	-1	no_errors	ENST00000392677	ensembl	human	known	69_37n	missense	107	24.11	34	SNP	1.000	C
ABRA	137735	genome.wustl.edu	37	8	107781891	107781891	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr8:107781891C>T	ENST00000311955.3	-	1	582	c.528G>A	c.(526-528)gtG>gtA	p.V176V		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCTGCTCCATCACTCTCCAGC	0.587																																						dbGAP											0													228.0	214.0	219.0					8																	107781891		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.528G>A	8.37:g.107781891C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.V176	ENST00000311955.3	37	c.528	CCDS6305.1	8																																																																																			ABRA	-	NULL	ENSG00000174429		0.587	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABRA	HGNC	protein_coding	OTTHUMT00000380416.1	501	0.00	0	C	NM_139166		107781891	107781891	-1	no_errors	ENST00000311955	ensembl	human	known	69_37n	silent	276	28.12	108	SNP	0.999	T
ABRA	137735	genome.wustl.edu	37	8	107781891	107781891	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr8:107781891C>T	ENST00000311955.3	-	1	582	c.528G>A	c.(526-528)gtG>gtA	p.V176V		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCTGCTCCATCACTCTCCAGC	0.587																																						dbGAP											0													228.0	214.0	219.0					8																	107781891		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.528G>A	8.37:g.107781891C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.V176	ENST00000311955.3	37	c.528	CCDS6305.1	8																																																																																			ABRA	-	NULL	ENSG00000174429		0.587	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABRA	HGNC	protein_coding	OTTHUMT00000380416.1	227	0.00	0	C	NM_139166		107781891	107781891	-1	no_errors	ENST00000311955	ensembl	human	known	69_37n	silent	276	28.12	108	SNP	0.999	T
ALDH3B2	222	genome.wustl.edu	37	11	67431978	67431978	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr11:67431978G>C	ENST00000349015.3	-	8	1200	c.762C>G	c.(760-762)atC>atG	p.I254M	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.I254M|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	254					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						TGGGCCCGAAGATCTCCTCCT	0.652																																						dbGAP											0													141.0	113.0	122.0					11																	67431978		2200	4294	6494	-	-	-	SO:0001583	missense	0			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.762C>G	11.37:g.67431978G>C	ENSP00000255084:p.Ile254Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.I254M	ENST00000349015.3	37	c.762	CCDS31622.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.79|19.79	3.892892|3.892892	0.72524|0.72524	.|.	.|.	ENSG00000132746|ENSG00000132746	ENST00000530069;ENST00000349015|ENST00000531248	T;T|.	0.79845|.	-1.31;-1.31|.	3.94|3.94	3.94|3.94	0.45596|0.45596	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.86289|0.86289	0.5897|0.5897	H|H	0.96576|0.96576	3.845|3.845	0.58432|0.58432	D|D	0.999995|0.999995	D;P|.	0.54601|.	0.967;0.939|.	D;D|.	0.73708|.	0.963;0.981|.	D|D	0.89511|0.89511	0.3771|0.3771	10|5	0.72032|.	D|.	0.01|.	.|.	11.2074|11.2074	0.48778|0.48778	0.0949:0.0:0.9051:0.0|0.0949:0.0:0.9051:0.0	.|.	139;254|.	B4DSX1;P48448|.	.;AL3B2_HUMAN|.	M|V	254|25	ENSP00000431595:I254M;ENSP00000255084:I254M|.	ENSP00000255084:I254M|.	I|L	-|-	3|1	3|0	ALDH3B2|ALDH3B2	67188554|67188554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.048000|1.048000	0.30379|0.30379	2.211000|2.211000	0.71520|0.71520	0.462000|0.462000	0.41574|0.41574	ATC|CTT	ALDH3B2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000132746		0.652	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH3B2	HGNC	protein_coding	OTTHUMT00000394004.1	70	0.00	0	G	NM_000695		67431978	67431978	-1	no_errors	ENST00000349015	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	1.000	C
ALDH3B2	222	genome.wustl.edu	37	11	67431978	67431978	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr11:67431978G>C	ENST00000349015.3	-	8	1200	c.762C>G	c.(760-762)atC>atG	p.I254M	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.I254M|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	254					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						TGGGCCCGAAGATCTCCTCCT	0.652																																						dbGAP											0													141.0	113.0	122.0					11																	67431978		2200	4294	6494	-	-	-	SO:0001583	missense	0			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.762C>G	11.37:g.67431978G>C	ENSP00000255084:p.Ile254Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.I254M	ENST00000349015.3	37	c.762	CCDS31622.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.79|19.79	3.892892|3.892892	0.72524|0.72524	.|.	.|.	ENSG00000132746|ENSG00000132746	ENST00000530069;ENST00000349015|ENST00000531248	T;T|.	0.79845|.	-1.31;-1.31|.	3.94|3.94	3.94|3.94	0.45596|0.45596	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.86289|0.86289	0.5897|0.5897	H|H	0.96576|0.96576	3.845|3.845	0.58432|0.58432	D|D	0.999995|0.999995	D;P|.	0.54601|.	0.967;0.939|.	D;D|.	0.73708|.	0.963;0.981|.	D|D	0.89511|0.89511	0.3771|0.3771	10|5	0.72032|.	D|.	0.01|.	.|.	11.2074|11.2074	0.48778|0.48778	0.0949:0.0:0.9051:0.0|0.0949:0.0:0.9051:0.0	.|.	139;254|.	B4DSX1;P48448|.	.;AL3B2_HUMAN|.	M|V	254|25	ENSP00000431595:I254M;ENSP00000255084:I254M|.	ENSP00000255084:I254M|.	I|L	-|-	3|1	3|0	ALDH3B2|ALDH3B2	67188554|67188554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.048000|1.048000	0.30379|0.30379	2.211000|2.211000	0.71520|0.71520	0.462000|0.462000	0.41574|0.41574	ATC|CTT	ALDH3B2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000132746		0.652	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH3B2	HGNC	protein_coding	OTTHUMT00000394004.1	27	0.00	0	G	NM_000695		67431978	67431978	-1	no_errors	ENST00000349015	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	1.000	C
AMZ2P1	201283	genome.wustl.edu	37	17	62969044	62969044	+	RNA	SNP	T	T	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:62969044T>A	ENST00000430983.1	-	0	1291					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		TTCATAGAGATCCTATAATAT	0.338																																						dbGAP											0																																										-	-	-			0			AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62969044T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000430983.1	37	NULL		17																																																																																			AMZ2P1	-	-	ENSG00000214174		0.338	AMZ2P1-002	KNOWN	basic	processed_transcript	AMZ2P1	HGNC	pseudogene	OTTHUMT00000255102.1	82	0.00	0	T	NM_153032		62969044	62969044	-1	no_errors	ENST00000397713	ensembl	human	known	69_37n	rna	52	38.10	32	SNP	0.670	A
AMZ2P1	201283	genome.wustl.edu	37	17	62969044	62969044	+	RNA	SNP	T	T	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:62969044T>A	ENST00000430983.1	-	0	1291					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		TTCATAGAGATCCTATAATAT	0.338																																						dbGAP											0																																										-	-	-			0			AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62969044T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000430983.1	37	NULL		17																																																																																			AMZ2P1	-	-	ENSG00000214174		0.338	AMZ2P1-002	KNOWN	basic	processed_transcript	AMZ2P1	HGNC	pseudogene	OTTHUMT00000255102.1	63	0.00	0	T	NM_153032		62969044	62969044	-1	no_errors	ENST00000397713	ensembl	human	known	69_37n	rna	52	38.10	32	SNP	0.670	A
ANKRD20A4	728747	genome.wustl.edu	37	9	69421946	69421946	+	Silent	SNP	T	T	C	rs201965999	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr9:69421946T>C	ENST00000357336.3	+	14	1691	c.1410T>C	c.(1408-1410)taT>taC	p.Y470Y		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	470										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AGAAACAATATAAGAAAGAAG	0.303																																						dbGAP											0													1.0	2.0	1.0					9																	69421946		286	893	1179	-	-	-	SO:0001819	synonymous_variant	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1410T>C	9.37:g.69421946T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Y470	ENST00000357336.3	37	c.1410	CCDS43828.1	9																																																																																			ANKRD20A4	-	NULL	ENSG00000172014		0.303	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	22	0.00	0	T	NM_001098805		69421946	69421946	+1	no_errors	ENST00000357336	ensembl	human	known	69_37n	silent	23	17.86	5	SNP	0.129	C
ANKRD30B	374860	genome.wustl.edu	37	18	14752623	14752623	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr18:14752623G>C	ENST00000358984.4	+	2	460	c.280G>C	c.(280-282)Gac>Cac	p.D94H	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D94H	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	94										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATTTCTGGTAGACAGAAAGTG	0.468																																						dbGAP											0													87.0	77.0	80.0					18																	14752623		692	1591	2283	-	-	-	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.280G>C	18.37:g.14752623G>C	ENSP00000351875:p.Asp94His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D94H	ENST00000358984.4	37	c.280	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	13.26	2.185415	0.38609	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.66638	-0.22;-0.22	1.59	1.59	0.23543	.	.	.	.	.	T	0.71787	0.3381	M	0.83852	2.665	0.23144	N	0.998226	D	0.58268	0.982	P	0.50049	0.629	T	0.62576	-0.6825	9	0.72032	D	0.01	.	6.6797	0.23113	0.0:0.0:1.0:0.0	.	94	F8WAG3	.	H	94	ENSP00000351875:D94H;ENSP00000399031:D94H	ENSP00000351875:D94H	D	+	1	0	ANKRD30B	14742623	0.995000	0.38212	0.002000	0.10522	0.057000	0.15508	2.610000	0.46325	1.213000	0.43380	0.283000	0.19423	GAC	ANKRD30B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000180777		0.468	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	54	0.00	0	G	NM_001145029		14752623	14752623	+1	no_errors	ENST00000358984	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	0.720	C
ANKRD30B	374860	genome.wustl.edu	37	18	14752623	14752623	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr18:14752623G>C	ENST00000358984.4	+	2	460	c.280G>C	c.(280-282)Gac>Cac	p.D94H	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D94H	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	94										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATTTCTGGTAGACAGAAAGTG	0.468																																						dbGAP											0													87.0	77.0	80.0					18																	14752623		692	1591	2283	-	-	-	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.280G>C	18.37:g.14752623G>C	ENSP00000351875:p.Asp94His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D94H	ENST00000358984.4	37	c.280	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	13.26	2.185415	0.38609	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.66638	-0.22;-0.22	1.59	1.59	0.23543	.	.	.	.	.	T	0.71787	0.3381	M	0.83852	2.665	0.23144	N	0.998226	D	0.58268	0.982	P	0.50049	0.629	T	0.62576	-0.6825	9	0.72032	D	0.01	.	6.6797	0.23113	0.0:0.0:1.0:0.0	.	94	F8WAG3	.	H	94	ENSP00000351875:D94H;ENSP00000399031:D94H	ENSP00000351875:D94H	D	+	1	0	ANKRD30B	14742623	0.995000	0.38212	0.002000	0.10522	0.057000	0.15508	2.610000	0.46325	1.213000	0.43380	0.283000	0.19423	GAC	ANKRD30B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000180777		0.468	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	31	0.00	0	G	NM_001145029		14752623	14752623	+1	no_errors	ENST00000358984	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	0.720	C
ANKRD36	375248	genome.wustl.edu	37	2	97783882	97783882	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:97783882C>T	ENST00000461153.2	+	2	523	c.279C>T	c.(277-279)ctC>ctT	p.L93L	ANKRD36_ENST00000420699.2_Silent_p.L93L			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	93										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCTTAACCTCTGCGACCGTG	0.473																																						dbGAP											0													17.0	19.0	18.0					2																	97783882		1865	4090	5955	-	-	-	SO:0001819	synonymous_variant	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.279C>T	2.37:g.97783882C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L93	ENST00000461153.2	37	c.279	CCDS54379.1	2																																																																																			ANKRD36	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000135976		0.473	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	23	0.00	0	C			97783882	97783882	+1	no_errors	ENST00000420699	ensembl	human	known	69_37n	silent	14	36.36	8	SNP	0.990	T
ANKRD36	375248	genome.wustl.edu	37	2	97783882	97783882	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:97783882C>T	ENST00000461153.2	+	2	523	c.279C>T	c.(277-279)ctC>ctT	p.L93L	ANKRD36_ENST00000420699.2_Silent_p.L93L			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	93										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCTTAACCTCTGCGACCGTG	0.473																																						dbGAP											0													17.0	19.0	18.0					2																	97783882		1865	4090	5955	-	-	-	SO:0001819	synonymous_variant	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.279C>T	2.37:g.97783882C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L93	ENST00000461153.2	37	c.279	CCDS54379.1	2																																																																																			ANKRD36	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000135976		0.473	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	16	0.00	0	C			97783882	97783882	+1	no_errors	ENST00000420699	ensembl	human	known	69_37n	silent	14	36.36	8	SNP	0.990	T
ARFGEF2	10564	genome.wustl.edu	37	20	47601269	47601269	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr20:47601269C>G	ENST00000371917.4	+	15	1962	c.1962C>G	c.(1960-1962)ttC>ttG	p.F654L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	654	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GAAACAGGTTCAACAAGAAAC	0.448																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	dbGAP											0													113.0	120.0	118.0					20																	47601269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1962C>G	20.37:g.47601269C>G	ENSP00000360985:p.Phe654Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.F654L	ENST00000371917.4	37	c.1962	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364717	0.82463	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	D	0.88896	-2.44	5.85	4.91	0.64330	Armadillo-type fold (1);SEC7-like (4);	0.092426	0.85682	D	0.000000	D	0.95316	0.8480	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94959	0.8106	10	0.87932	D	0	.	7.093	0.25295	0.0:0.716:0.0:0.284	.	654	Q9Y6D5	BIG2_HUMAN	L	654	ENSP00000360985:F654L	ENSP00000360985:F654L	F	+	3	2	ARFGEF2	47034676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.193000	0.32162	1.487000	0.48415	0.563000	0.77884	TTC	ARFGEF2	-	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	ENSG00000124198		0.448	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	220	0.00	0	C	NM_006420		47601269	47601269	+1	no_errors	ENST00000371917	ensembl	human	known	69_37n	missense	186	28.74	75	SNP	1.000	G
ARFGEF2	10564	genome.wustl.edu	37	20	47601269	47601269	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr20:47601269C>G	ENST00000371917.4	+	15	1962	c.1962C>G	c.(1960-1962)ttC>ttG	p.F654L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	654	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GAAACAGGTTCAACAAGAAAC	0.448																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	dbGAP											0													113.0	120.0	118.0					20																	47601269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1962C>G	20.37:g.47601269C>G	ENSP00000360985:p.Phe654Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.F654L	ENST00000371917.4	37	c.1962	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364717	0.82463	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	D	0.88896	-2.44	5.85	4.91	0.64330	Armadillo-type fold (1);SEC7-like (4);	0.092426	0.85682	D	0.000000	D	0.95316	0.8480	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94959	0.8106	10	0.87932	D	0	.	7.093	0.25295	0.0:0.716:0.0:0.284	.	654	Q9Y6D5	BIG2_HUMAN	L	654	ENSP00000360985:F654L	ENSP00000360985:F654L	F	+	3	2	ARFGEF2	47034676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.193000	0.32162	1.487000	0.48415	0.563000	0.77884	TTC	ARFGEF2	-	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	ENSG00000124198		0.448	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	172	0.00	0	C	NM_006420		47601269	47601269	+1	no_errors	ENST00000371917	ensembl	human	known	69_37n	missense	186	28.74	75	SNP	1.000	G
ARHGAP17	55114	genome.wustl.edu	37	16	24965944	24965944	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr16:24965944C>T	ENST00000289968.6	-	10	901	c.832G>A	c.(832-834)Gag>Aag	p.E278K	ARHGAP17_ENST00000575975.1_5'Flank|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E278K|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	278	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ATGCCTGTCTCCAGAAGCAGC	0.597																																						dbGAP											0													126.0	117.0	120.0					16																	24965944		2197	4300	6497	-	-	-	SO:0001583	missense	0			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.832G>A	16.37:g.24965944C>T	ENSP00000289968:p.Glu278Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.E278K	ENST00000289968.6	37	c.832	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	C	30	5.052411	0.93793	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.36699	1.24;1.24	5.79	4.84	0.62591	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.40554	N	0.001071	T	0.50616	0.1626	L	0.43646	1.37	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.48692	-0.9013	10	0.48119	T	0.1	.	12.6808	0.56920	0.0:0.9204:0.0:0.0796	.	278;278;278	C9IZD3;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	K	278	ENSP00000289968:E278K;ENSP00000303130:E278K	ENSP00000289968:E278K	E	-	1	0	ARHGAP17	24873445	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.741000	0.84997	1.454000	0.47793	-0.140000	0.14226	GAG	ARHGAP17	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000140750		0.597	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	130	0.00	0	C	NM_018054		24965944	24965944	-1	no_errors	ENST00000289968	ensembl	human	known	69_37n	missense	58	39.58	38	SNP	1.000	T
ARHGAP17	55114	genome.wustl.edu	37	16	24965944	24965944	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr16:24965944C>T	ENST00000289968.6	-	10	901	c.832G>A	c.(832-834)Gag>Aag	p.E278K	ARHGAP17_ENST00000575975.1_5'Flank|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E278K|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	278	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ATGCCTGTCTCCAGAAGCAGC	0.597																																						dbGAP											0													126.0	117.0	120.0					16																	24965944		2197	4300	6497	-	-	-	SO:0001583	missense	0			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.832G>A	16.37:g.24965944C>T	ENSP00000289968:p.Glu278Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.E278K	ENST00000289968.6	37	c.832	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	C	30	5.052411	0.93793	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.36699	1.24;1.24	5.79	4.84	0.62591	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.40554	N	0.001071	T	0.50616	0.1626	L	0.43646	1.37	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.48692	-0.9013	10	0.48119	T	0.1	.	12.6808	0.56920	0.0:0.9204:0.0:0.0796	.	278;278;278	C9IZD3;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	K	278	ENSP00000289968:E278K;ENSP00000303130:E278K	ENSP00000289968:E278K	E	-	1	0	ARHGAP17	24873445	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.741000	0.84997	1.454000	0.47793	-0.140000	0.14226	GAG	ARHGAP17	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000140750		0.597	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	107	0.93	1	C	NM_018054		24965944	24965944	-1	no_errors	ENST00000289968	ensembl	human	known	69_37n	missense	58	39.58	38	SNP	1.000	T
ARHGAP20	57569	genome.wustl.edu	37	11	110450435	110450435	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr11:110450435C>T	ENST00000260283.4	-	16	3519	c.3235G>A	c.(3235-3237)Ggt>Agt	p.G1079S	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G1043S|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G622S|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G1056S|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G1053S|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G1043S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G1053S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1079					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTGGAACACCAGAAGCATGT	0.502																																						dbGAP											0													78.0	89.0	85.0					11																	110450435		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3235G>A	11.37:g.110450435C>T	ENSP00000260283:p.Gly1079Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.G1079S	ENST00000260283.4	37	c.3235	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400786	0.42613	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.09255	3.0;3.0;3.05;3.0;3.0;3.0;3.0	5.35	1.32	0.21799	.	0.572281	0.16081	N	0.230490	T	0.09555	0.0235	L	0.57536	1.79	0.09310	N	1	B;B;B	0.15141	0.001;0.007;0.012	B;B;B	0.12837	0.001;0.004;0.008	T	0.32851	-0.9891	10	0.46703	T	0.11	.	1.9304	0.03326	0.1305:0.4648:0.1269:0.2778	.	1053;1079;1056	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	S	1079;1053;622;1056;1043;1053;1043	ENSP00000260283:G1079S;ENSP00000349660:G1053S;ENSP00000437905:G622S;ENSP00000432076:G1056S;ENSP00000436319:G1043S;ENSP00000436522:G1053S;ENSP00000431399:G1043S	ENSP00000260283:G1079S	G	-	1	0	ARHGAP20	109955645	0.000000	0.05858	0.001000	0.08648	0.604000	0.37047	0.124000	0.15728	0.000000	0.14550	-0.143000	0.13931	GGT	ARHGAP20	-	NULL	ENSG00000137727		0.502	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	108	0.00	0	C	NM_020809		110450435	110450435	-1	no_errors	ENST00000260283	ensembl	human	known	69_37n	missense	36	59.34	54	SNP	0.000	T
ARHGAP20	57569	genome.wustl.edu	37	11	110450435	110450435	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr11:110450435C>T	ENST00000260283.4	-	16	3519	c.3235G>A	c.(3235-3237)Ggt>Agt	p.G1079S	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G1043S|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G622S|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G1056S|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G1053S|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G1043S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G1053S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1079					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTGGAACACCAGAAGCATGT	0.502																																						dbGAP											0													78.0	89.0	85.0					11																	110450435		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3235G>A	11.37:g.110450435C>T	ENSP00000260283:p.Gly1079Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.G1079S	ENST00000260283.4	37	c.3235	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400786	0.42613	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.09255	3.0;3.0;3.05;3.0;3.0;3.0;3.0	5.35	1.32	0.21799	.	0.572281	0.16081	N	0.230490	T	0.09555	0.0235	L	0.57536	1.79	0.09310	N	1	B;B;B	0.15141	0.001;0.007;0.012	B;B;B	0.12837	0.001;0.004;0.008	T	0.32851	-0.9891	10	0.46703	T	0.11	.	1.9304	0.03326	0.1305:0.4648:0.1269:0.2778	.	1053;1079;1056	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	S	1079;1053;622;1056;1043;1053;1043	ENSP00000260283:G1079S;ENSP00000349660:G1053S;ENSP00000437905:G622S;ENSP00000432076:G1056S;ENSP00000436319:G1043S;ENSP00000436522:G1053S;ENSP00000431399:G1043S	ENSP00000260283:G1079S	G	-	1	0	ARHGAP20	109955645	0.000000	0.05858	0.001000	0.08648	0.604000	0.37047	0.124000	0.15728	0.000000	0.14550	-0.143000	0.13931	GGT	ARHGAP20	-	NULL	ENSG00000137727		0.502	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	49	0.00	0	C	NM_020809		110450435	110450435	-1	no_errors	ENST00000260283	ensembl	human	known	69_37n	missense	36	59.34	54	SNP	0.000	T
ARHGAP30	257106	genome.wustl.edu	37	1	161026205	161026205	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:161026205G>C	ENST00000368013.3	-	3	638	c.318C>G	c.(316-318)ctC>ctG	p.L106L	ARHGAP30_ENST00000368016.3_Silent_p.L106L|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	106	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCGGTAAGTGAGCAGGGGAT	0.567																																						dbGAP											0													73.0	65.0	68.0					1																	161026205		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.318C>G	1.37:g.161026205G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L106	ENST00000368013.3	37	c.318	CCDS30918.1	1																																																																																			ARHGAP30	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000186517		0.567	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	50	0.00	0	G	NM_181720		161026205	161026205	-1	no_errors	ENST00000368013	ensembl	human	known	69_37n	silent	19	24.00	6	SNP	1.000	C
ARHGAP30	257106	genome.wustl.edu	37	1	161026205	161026205	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:161026205G>C	ENST00000368013.3	-	3	638	c.318C>G	c.(316-318)ctC>ctG	p.L106L	ARHGAP30_ENST00000368016.3_Silent_p.L106L|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	106	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCGGTAAGTGAGCAGGGGAT	0.567																																						dbGAP											0													73.0	65.0	68.0					1																	161026205		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.318C>G	1.37:g.161026205G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L106	ENST00000368013.3	37	c.318	CCDS30918.1	1																																																																																			ARHGAP30	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000186517		0.567	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	12	0.00	0	G	NM_181720		161026205	161026205	-1	no_errors	ENST00000368013	ensembl	human	known	69_37n	silent	19	24.00	6	SNP	1.000	C
ARHGAP31	57514	genome.wustl.edu	37	3	119134755	119134755	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr3:119134755G>C	ENST00000264245.4	+	12	4511	c.3979G>C	c.(3979-3981)Gag>Cag	p.E1327Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1327					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTCAAAACTAGAGCGACCATC	0.512																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													103.0	108.0	107.0					3																	119134755		1904	4118	6022	-	-	-	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3979G>C	3.37:g.119134755G>C	ENSP00000264245:p.Glu1327Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E1327Q	ENST00000264245.4	37	c.3979	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874327	0.72180	.	.	ENSG00000031081	ENST00000264245	T	0.55234	0.53	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000011	T	0.62171	0.2406	L	0.32530	0.975	0.44771	D	0.997774	D	0.89917	1.0	P	0.60789	0.879	T	0.63642	-0.6591	10	0.87932	D	0	.	19.2859	0.94069	0.0:0.0:1.0:0.0	.	1327	Q2M1Z3	RHG31_HUMAN	Q	1327	ENSP00000264245:E1327Q	ENSP00000264245:E1327Q	E	+	1	0	ARHGAP31	120617445	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.874000	0.92363	2.873000	0.98535	0.563000	0.77884	GAG	ARHGAP31	-	NULL	ENSG00000031081		0.512	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	154	0.00	0	G			119134755	119134755	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	missense	272	31.14	123	SNP	1.000	C
ARHGAP31	57514	genome.wustl.edu	37	3	119134755	119134755	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr3:119134755G>C	ENST00000264245.4	+	12	4511	c.3979G>C	c.(3979-3981)Gag>Cag	p.E1327Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1327					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTCAAAACTAGAGCGACCATC	0.512																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													103.0	108.0	107.0					3																	119134755		1904	4118	6022	-	-	-	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3979G>C	3.37:g.119134755G>C	ENSP00000264245:p.Glu1327Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E1327Q	ENST00000264245.4	37	c.3979	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874327	0.72180	.	.	ENSG00000031081	ENST00000264245	T	0.55234	0.53	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000011	T	0.62171	0.2406	L	0.32530	0.975	0.44771	D	0.997774	D	0.89917	1.0	P	0.60789	0.879	T	0.63642	-0.6591	10	0.87932	D	0	.	19.2859	0.94069	0.0:0.0:1.0:0.0	.	1327	Q2M1Z3	RHG31_HUMAN	Q	1327	ENSP00000264245:E1327Q	ENSP00000264245:E1327Q	E	+	1	0	ARHGAP31	120617445	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.874000	0.92363	2.873000	0.98535	0.563000	0.77884	GAG	ARHGAP31	-	NULL	ENSG00000031081		0.512	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	581	0.17	1	G			119134755	119134755	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	missense	272	31.14	123	SNP	1.000	C
ARSB	411	genome.wustl.edu	37	5	78181569	78181569	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr5:78181569C>T	ENST00000264914.4	-	5	1516	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	ARSB_ENST00000565165.1_Missense_Mutation_p.R327Q|ARSB_ENST00000396151.3_Missense_Mutation_p.R327Q|ARSB_ENST00000521800.1_5'UTR	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	327					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GCCCACCCCTCGGACGCCTCC	0.567																																					Melanoma(169;563 1968 25780 26156 52266)	dbGAP											0													92.0	94.0	94.0					5																	78181569		2203	4300	6503	-	-	-	SO:0001583	missense	0			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.980G>A	5.37:g.78181569C>T	ENSP00000264914:p.Arg327Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R327Q	ENST00000264914.4	37	c.980	CCDS4043.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.813706	0.96975	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.97959	-4.63;-4.63	5.46	5.46	0.80206	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.959;0.998	D	0.99091	1.0840	10	0.87932	D	0	.	18.2841	0.90108	0.0:1.0:0.0:0.0	.	327;327	Q8N322;P15848	.;ARSB_HUMAN	Q	327	ENSP00000264914:R327Q;ENSP00000379455:R327Q	ENSP00000264914:R327Q	R	-	2	0	ARSB	78217325	1.000000	0.71417	0.961000	0.40146	0.980000	0.70556	7.773000	0.85462	2.555000	0.86185	0.561000	0.74099	CGA	ARSB	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000113273		0.567	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSB	HGNC	protein_coding	OTTHUMT00000226932.2	176	0.00	0	C	NM_000046		78181569	78181569	-1	no_errors	ENST00000264914	ensembl	human	known	69_37n	missense	147	30.19	64	SNP	1.000	T
ARSB	411	genome.wustl.edu	37	5	78181569	78181569	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr5:78181569C>T	ENST00000264914.4	-	5	1516	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	ARSB_ENST00000565165.1_Missense_Mutation_p.R327Q|ARSB_ENST00000396151.3_Missense_Mutation_p.R327Q|ARSB_ENST00000521800.1_5'UTR	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	327					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GCCCACCCCTCGGACGCCTCC	0.567																																					Melanoma(169;563 1968 25780 26156 52266)	dbGAP											0													92.0	94.0	94.0					5																	78181569		2203	4300	6503	-	-	-	SO:0001583	missense	0			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.980G>A	5.37:g.78181569C>T	ENSP00000264914:p.Arg327Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R327Q	ENST00000264914.4	37	c.980	CCDS4043.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.813706	0.96975	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.97959	-4.63;-4.63	5.46	5.46	0.80206	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.959;0.998	D	0.99091	1.0840	10	0.87932	D	0	.	18.2841	0.90108	0.0:1.0:0.0:0.0	.	327;327	Q8N322;P15848	.;ARSB_HUMAN	Q	327	ENSP00000264914:R327Q;ENSP00000379455:R327Q	ENSP00000264914:R327Q	R	-	2	0	ARSB	78217325	1.000000	0.71417	0.961000	0.40146	0.980000	0.70556	7.773000	0.85462	2.555000	0.86185	0.561000	0.74099	CGA	ARSB	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000113273		0.567	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSB	HGNC	protein_coding	OTTHUMT00000226932.2	201	0.00	0	C	NM_000046		78181569	78181569	-1	no_errors	ENST00000264914	ensembl	human	known	69_37n	missense	147	30.19	64	SNP	1.000	T
ARVCF	421	genome.wustl.edu	37	22	19959495	19959495	+	Splice_Site	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr22:19959495C>G	ENST00000263207.3	-	18	2987		c.e18-1		ARVCF_ENST00000406522.1_Splice_Site|ARVCF_ENST00000344269.3_Splice_Site|ARVCF_ENST00000401994.1_Splice_Site|ARVCF_ENST00000406259.1_Splice_Site	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome						calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GAGTATCCGTCTGTAGATGGG	0.632																																						dbGAP											0													52.0	52.0	52.0					22																	19959495		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2696-1G>C	22.37:g.19959495C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNV2	Splice_Site	SNP	-	e16-1	ENST00000263207.3	37	c.2696-1	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764818	0.31228	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4041	0.74863	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARVCF	18339495	1.000000	0.71417	0.955000	0.39395	0.060000	0.15804	4.355000	0.59424	2.244000	0.73946	0.462000	0.41574	.	ARVCF	-	-	ENSG00000099889		0.632	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	26	0.00	0	C	NM_001670	Intron	19959495	19959495	-1	no_errors	ENST00000263207	ensembl	human	known	69_37n	splice_site	9	35.71	5	SNP	1.000	G
ARVCF	421	genome.wustl.edu	37	22	19959495	19959495	+	Splice_Site	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr22:19959495C>G	ENST00000263207.3	-	18	2987		c.e18-1		ARVCF_ENST00000406522.1_Splice_Site|ARVCF_ENST00000344269.3_Splice_Site|ARVCF_ENST00000401994.1_Splice_Site|ARVCF_ENST00000406259.1_Splice_Site	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome						calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GAGTATCCGTCTGTAGATGGG	0.632																																						dbGAP											0													52.0	52.0	52.0					22																	19959495		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2696-1G>C	22.37:g.19959495C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNV2	Splice_Site	SNP	-	e16-1	ENST00000263207.3	37	c.2696-1	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764818	0.31228	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4041	0.74863	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARVCF	18339495	1.000000	0.71417	0.955000	0.39395	0.060000	0.15804	4.355000	0.59424	2.244000	0.73946	0.462000	0.41574	.	ARVCF	-	-	ENSG00000099889		0.632	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	16	0.00	0	C	NM_001670	Intron	19959495	19959495	-1	no_errors	ENST00000263207	ensembl	human	known	69_37n	splice_site	9	35.71	5	SNP	1.000	G
ASAH2	56624	genome.wustl.edu	37	10	52003088	52003088	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr10:52003088C>T	ENST00000395526.4	-	3	383	c.384G>A	c.(382-384)caG>caA	p.Q128Q	ASAH2_ENST00000443575.1_5'Flank|ASAH2_ENST00000329428.6_Silent_p.Q109Q|ASAH2_ENST00000447815.1_Silent_p.Q128Q	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	128					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						CCTGTGCATTCTGGCCGGATT	0.488																																						dbGAP											0													167.0	142.0	150.0					10																	52003088		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.384G>A	10.37:g.52003088C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Silent	SNP	pfam_Ceramidase_alk	p.Q128	ENST00000395526.4	37	c.384	CCDS7239.2	10																																																																																			ASAH2	-	pfam_Ceramidase_alk	ENSG00000188611		0.488	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH2	HGNC	protein_coding	OTTHUMT00000048061.3	380	0.00	0	C	NM_019893		52003088	52003088	-1	no_errors	ENST00000395526	ensembl	human	known	69_37n	silent	202	28.37	80	SNP	0.999	T
ASAH2	56624	genome.wustl.edu	37	10	52003088	52003088	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr10:52003088C>T	ENST00000395526.4	-	3	383	c.384G>A	c.(382-384)caG>caA	p.Q128Q	ASAH2_ENST00000443575.1_5'Flank|ASAH2_ENST00000329428.6_Silent_p.Q109Q|ASAH2_ENST00000447815.1_Silent_p.Q128Q	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	128					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						CCTGTGCATTCTGGCCGGATT	0.488																																						dbGAP											0													167.0	142.0	150.0					10																	52003088		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.384G>A	10.37:g.52003088C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Silent	SNP	pfam_Ceramidase_alk	p.Q128	ENST00000395526.4	37	c.384	CCDS7239.2	10																																																																																			ASAH2	-	pfam_Ceramidase_alk	ENSG00000188611		0.488	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH2	HGNC	protein_coding	OTTHUMT00000048061.3	216	0.00	0	C	NM_019893		52003088	52003088	-1	no_errors	ENST00000395526	ensembl	human	known	69_37n	silent	202	28.37	80	SNP	0.999	T
ASXL2	55252	genome.wustl.edu	37	2	25972681	25972681	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:25972681C>G	ENST00000435504.4	-	12	2037	c.1744G>C	c.(1744-1746)Gag>Cag	p.E582Q	ASXL2_ENST00000272341.4_Missense_Mutation_p.E322Q|ASXL2_ENST00000336112.4_Missense_Mutation_p.E554Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.E322Q			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	582					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTCTTCTCCCAGCTCACA	0.522																																						dbGAP											0													73.0	73.0	73.0					2																	25972681		1975	4163	6138	-	-	-	SO:0001583	missense	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1744G>C	2.37:g.25972681C>G	ENSP00000391447:p.Glu582Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E582Q	ENST00000435504.4	37	c.1744		2	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053809	0.55218	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	6.16	5.28	0.74379	.	0.180983	0.49305	D	0.000142	T	0.73999	0.3659	M	0.71581	2.175	0.43657	D	0.996073	D;D	0.76494	0.999;0.999	D;D	0.80764	0.974;0.994	T	0.73313	-0.4022	10	0.33141	T	0.24	-14.3053	15.6372	0.76963	0.1385:0.8615:0.0:0.0	.	322;582	Q76L83-2;Q76L83	.;ASXL2_HUMAN	Q	582;554;322;322	ENSP00000391447:E582Q;ENSP00000337250:E554Q;ENSP00000383920:E322Q;ENSP00000272341:E322Q	ENSP00000272341:E322Q	E	-	1	0	ASXL2	25826185	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.777000	0.68931	1.597000	0.50072	0.650000	0.86243	GAG	ASXL2	-	NULL	ENSG00000143970		0.522	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	121	0.00	0	C	NM_018263		25972681	25972681	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	missense	132	26.26	47	SNP	1.000	G
ASXL2	55252	genome.wustl.edu	37	2	25972681	25972681	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:25972681C>G	ENST00000435504.4	-	12	2037	c.1744G>C	c.(1744-1746)Gag>Cag	p.E582Q	ASXL2_ENST00000272341.4_Missense_Mutation_p.E322Q|ASXL2_ENST00000336112.4_Missense_Mutation_p.E554Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.E322Q			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	582					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTCTTCTCCCAGCTCACA	0.522																																						dbGAP											0													73.0	73.0	73.0					2																	25972681		1975	4163	6138	-	-	-	SO:0001583	missense	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1744G>C	2.37:g.25972681C>G	ENSP00000391447:p.Glu582Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E582Q	ENST00000435504.4	37	c.1744		2	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053809	0.55218	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	6.16	5.28	0.74379	.	0.180983	0.49305	D	0.000142	T	0.73999	0.3659	M	0.71581	2.175	0.43657	D	0.996073	D;D	0.76494	0.999;0.999	D;D	0.80764	0.974;0.994	T	0.73313	-0.4022	10	0.33141	T	0.24	-14.3053	15.6372	0.76963	0.1385:0.8615:0.0:0.0	.	322;582	Q76L83-2;Q76L83	.;ASXL2_HUMAN	Q	582;554;322;322	ENSP00000391447:E582Q;ENSP00000337250:E554Q;ENSP00000383920:E322Q;ENSP00000272341:E322Q	ENSP00000272341:E322Q	E	-	1	0	ASXL2	25826185	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.777000	0.68931	1.597000	0.50072	0.650000	0.86243	GAG	ASXL2	-	NULL	ENSG00000143970		0.522	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	105	0.00	0	C	NM_018263		25972681	25972681	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	missense	132	26.26	47	SNP	1.000	G
ATP10A	57194	genome.wustl.edu	37	15	25928589	25928589	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr15:25928589G>A	ENST00000356865.6	-	17	3447	c.3336C>T	c.(3334-3336)ttC>ttT	p.F1112F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1112					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TAGATGCAGAGAAGCCACAGA	0.493																																						dbGAP											0													76.0	74.0	75.0					15																	25928589		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3336C>T	15.37:g.25928589G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0S9|Q969I4	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.F1112	ENST00000356865.6	37	c.3336	CCDS32178.1	15																																																																																			ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000206190		0.493	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	45	0.00	0	G	NM_024490		25928589	25928589	-1	no_errors	ENST00000356865	ensembl	human	known	69_37n	silent	50	32.43	24	SNP	1.000	A
ATP1A4	480	genome.wustl.edu	37	1	160136489	160136489	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:160136489G>C	ENST00000368081.4	+	8	1690	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	407					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCGTGTATGAGGCCGACAC	0.552																																						dbGAP											0													109.0	86.0	94.0					1																	160136489		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1219G>C	1.37:g.160136489G>C	ENSP00000357060:p.Glu407Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.E407Q	ENST00000368081.4	37	c.1219	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148811	0.37923	.	.	ENSG00000132681	ENST00000368081	T	0.80480	-1.38	4.35	1.38	0.22167	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.158777	0.53938	D	0.000058	T	0.63034	0.2477	L	0.31476	0.935	0.80722	D	1	P	0.36010	0.532	P	0.47941	0.562	T	0.64024	-0.6504	10	0.87932	D	0	.	3.901	0.09161	0.2963:0.1806:0.5231:0.0	.	407	Q13733	AT1A4_HUMAN	Q	407	ENSP00000357060:E407Q	ENSP00000357060:E407Q	E	+	1	0	ATP1A4	158403113	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.075000	0.11431	0.200000	0.20447	0.650000	0.86243	GAG	ATP1A4	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000132681		0.552	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	176	0.00	0	G	NM_144699		160136489	160136489	+1	no_errors	ENST00000368081	ensembl	human	known	69_37n	missense	79	43.97	62	SNP	0.973	C
ATP1A4	480	genome.wustl.edu	37	1	160136489	160136489	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:160136489G>C	ENST00000368081.4	+	8	1690	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	407					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCGTGTATGAGGCCGACAC	0.552																																						dbGAP											0													109.0	86.0	94.0					1																	160136489		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1219G>C	1.37:g.160136489G>C	ENSP00000357060:p.Glu407Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.E407Q	ENST00000368081.4	37	c.1219	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148811	0.37923	.	.	ENSG00000132681	ENST00000368081	T	0.80480	-1.38	4.35	1.38	0.22167	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.158777	0.53938	D	0.000058	T	0.63034	0.2477	L	0.31476	0.935	0.80722	D	1	P	0.36010	0.532	P	0.47941	0.562	T	0.64024	-0.6504	10	0.87932	D	0	.	3.901	0.09161	0.2963:0.1806:0.5231:0.0	.	407	Q13733	AT1A4_HUMAN	Q	407	ENSP00000357060:E407Q	ENSP00000357060:E407Q	E	+	1	0	ATP1A4	158403113	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.075000	0.11431	0.200000	0.20447	0.650000	0.86243	GAG	ATP1A4	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000132681		0.552	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	103	0.00	0	G	NM_144699		160136489	160136489	+1	no_errors	ENST00000368081	ensembl	human	known	69_37n	missense	79	43.97	62	SNP	0.973	C
ATP8B3	148229	genome.wustl.edu	37	19	1783049	1783049	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:1783049G>A	ENST00000310127.6	-	29	4119	c.3881C>T	c.(3880-3882)tCg>tTg	p.S1294L	ATP8B3_ENST00000539485.1_Missense_Mutation_p.S1304L|ATP8B3_ENST00000525591.1_Missense_Mutation_p.S1257L	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1294					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTGGGCTCGAAGCTGCCTC	0.557																																						dbGAP											0													71.0	70.0	70.0					19																	1783049		2047	4213	6260	-	-	-	SO:0001583	missense	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3881C>T	19.37:g.1783049G>A	ENSP00000311336:p.Ser1294Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S1304L	ENST00000310127.6	37	c.3911	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	G	4.425	0.078679	0.08533	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.58797	0.31;0.43;0.41	4.05	-8.09	0.01090	.	9.739050	0.00810	U	0.001492	T	0.26955	0.0660	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.35276	-0.9795	10	0.10902	T	0.67	.	1.1696	0.01823	0.398:0.268:0.16:0.174	.	1294;1257	O60423;Q7Z485	AT8B3_HUMAN;.	L	1294;1304;1257	ENSP00000311336:S1294L;ENSP00000443574:S1304L;ENSP00000437115:S1257L	ENSP00000311336:S1294L	S	-	2	0	ATP8B3	1734049	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.716000	0.01878	-3.557000	0.00141	-1.036000	0.02392	TCG	ATP8B3	-	NULL	ENSG00000130270		0.557	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	9	0.00	0	G	NM_138813		1783049	1783049	-1	no_errors	ENST00000539485	ensembl	human	known	69_37n	missense	4	63.64	7	SNP	0.000	A
ATP8B3	148229	genome.wustl.edu	37	19	1783049	1783049	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:1783049G>A	ENST00000310127.6	-	29	4119	c.3881C>T	c.(3880-3882)tCg>tTg	p.S1294L	ATP8B3_ENST00000539485.1_Missense_Mutation_p.S1304L|ATP8B3_ENST00000525591.1_Missense_Mutation_p.S1257L	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1294					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTGGGCTCGAAGCTGCCTC	0.557																																						dbGAP											0													71.0	70.0	70.0					19																	1783049		2047	4213	6260	-	-	-	SO:0001583	missense	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3881C>T	19.37:g.1783049G>A	ENSP00000311336:p.Ser1294Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S1304L	ENST00000310127.6	37	c.3911	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	G	4.425	0.078679	0.08533	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.58797	0.31;0.43;0.41	4.05	-8.09	0.01090	.	9.739050	0.00810	U	0.001492	T	0.26955	0.0660	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.35276	-0.9795	10	0.10902	T	0.67	.	1.1696	0.01823	0.398:0.268:0.16:0.174	.	1294;1257	O60423;Q7Z485	AT8B3_HUMAN;.	L	1294;1304;1257	ENSP00000311336:S1294L;ENSP00000443574:S1304L;ENSP00000437115:S1257L	ENSP00000311336:S1294L	S	-	2	0	ATP8B3	1734049	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.716000	0.01878	-3.557000	0.00141	-1.036000	0.02392	TCG	ATP8B3	-	NULL	ENSG00000130270		0.557	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	9	0.00	0	G	NM_138813		1783049	1783049	-1	no_errors	ENST00000539485	ensembl	human	known	69_37n	missense	4	63.64	7	SNP	0.000	A
ATXN10	25814	genome.wustl.edu	37	22	46136266	46136266	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr22:46136266C>T	ENST00000252934.5	+	9	1286	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	ATXN10_ENST00000381061.4_Missense_Mutation_p.H277Y	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	341					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GCGGGTGATTCATGTAGCTGG	0.368																																						dbGAP											0													143.0	135.0	138.0					22																	46136266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.1021C>T	22.37:g.46136266C>T	ENSP00000252934:p.His341Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	pfam_Ataxin-10_domain,superfamily_ARM-type_fold	p.H341Y	ENST00000252934.5	37	c.1021	CCDS14070.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.84|15.84	2.952486|2.952486	0.53293|0.53293	.|.	.|.	ENSG00000130638|ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011;ENST00000435026|ENST00000451241	T;T|.	0.48522|.	0.81;0.81|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75317|0.75317	0.3833|0.3833	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	P;P|.	0.49253|.	0.852;0.921|.	B;P|.	0.45167|.	0.353;0.472|.	T|T	0.72157|0.72157	-0.4375|-0.4375	10|5	0.34782|.	T|.	0.22|.	-15.1196|-15.1196	19.3129|19.3129	0.94198|0.94198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	277;341|.	A6NLC4;Q9UBB4|.	.;ATX10_HUMAN|.	Y|L	277;341;344;93|40	ENSP00000370449:H277Y;ENSP00000252934:H341Y|.	ENSP00000252934:H341Y|.	H|S	+|+	1|2	0|0	ATXN10|ATXN10	44514930|44514930	1.000000|1.000000	0.71417|0.71417	0.911000|0.911000	0.35937|0.35937	0.112000|0.112000	0.19704|0.19704	5.588000|5.588000	0.67517|0.67517	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	CAT|TCA	ATXN10	-	superfamily_ARM-type_fold	ENSG00000130638		0.368	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN10	HGNC	protein_coding	OTTHUMT00000318142.2	135	0.00	0	C	NM_013236		46136266	46136266	+1	no_errors	ENST00000252934	ensembl	human	known	69_37n	missense	98	28.99	40	SNP	1.000	T
ATXN10	25814	genome.wustl.edu	37	22	46136266	46136266	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr22:46136266C>T	ENST00000252934.5	+	9	1286	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	ATXN10_ENST00000381061.4_Missense_Mutation_p.H277Y	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	341					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GCGGGTGATTCATGTAGCTGG	0.368																																						dbGAP											0													143.0	135.0	138.0					22																	46136266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.1021C>T	22.37:g.46136266C>T	ENSP00000252934:p.His341Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	pfam_Ataxin-10_domain,superfamily_ARM-type_fold	p.H341Y	ENST00000252934.5	37	c.1021	CCDS14070.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.84|15.84	2.952486|2.952486	0.53293|0.53293	.|.	.|.	ENSG00000130638|ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011;ENST00000435026|ENST00000451241	T;T|.	0.48522|.	0.81;0.81|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75317|0.75317	0.3833|0.3833	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	P;P|.	0.49253|.	0.852;0.921|.	B;P|.	0.45167|.	0.353;0.472|.	T|T	0.72157|0.72157	-0.4375|-0.4375	10|5	0.34782|.	T|.	0.22|.	-15.1196|-15.1196	19.3129|19.3129	0.94198|0.94198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	277;341|.	A6NLC4;Q9UBB4|.	.;ATX10_HUMAN|.	Y|L	277;341;344;93|40	ENSP00000370449:H277Y;ENSP00000252934:H341Y|.	ENSP00000252934:H341Y|.	H|S	+|+	1|2	0|0	ATXN10|ATXN10	44514930|44514930	1.000000|1.000000	0.71417|0.71417	0.911000|0.911000	0.35937|0.35937	0.112000|0.112000	0.19704|0.19704	5.588000|5.588000	0.67517|0.67517	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	CAT|TCA	ATXN10	-	superfamily_ARM-type_fold	ENSG00000130638		0.368	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN10	HGNC	protein_coding	OTTHUMT00000318142.2	121	0.00	0	C	NM_013236		46136266	46136266	+1	no_errors	ENST00000252934	ensembl	human	known	69_37n	missense	98	28.99	40	SNP	1.000	T
AVPI1	60370	genome.wustl.edu	37	10	99439583	99439583	+	Missense_Mutation	SNP	G	G	A	rs112461058		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr10:99439583G>A	ENST00000370626.3	-	2	647	c.80C>T	c.(79-81)tCg>tTg	p.S27L		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	27					activation of MAPK activity (GO:0000187)|cell cycle (GO:0007049)					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GATGTTGGCCGAGGCCTGCTT	0.647																																						dbGAP											0													19.0	16.0	17.0					10																	99439583		2201	4294	6495	-	-	-	SO:0001583	missense	0			AF131791	CCDS7470.1	10q24.2	2004-04-05			ENSG00000119986	ENSG00000119986			30898	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_021732		Approved	VIP32, PP5395, VIT32	uc001koi.2	Q5T686	OTTHUMG00000018864	ENST00000370626.3:c.80C>T	10.37:g.99439583G>A	ENSP00000359660:p.Ser27Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G32|Q9H2R9|Q9HBN9	Missense_Mutation	SNP	NULL	p.S27L	ENST00000370626.3	37	c.80	CCDS7470.1	10	.	.	.	.	.	.	.	.	.	.	g	16.79	3.220002	0.58560	.	.	ENSG00000119986	ENST00000370626	T	0.36340	1.26	5.09	4.19	0.49359	.	0.389572	0.25958	N	0.027208	T	0.31263	0.0791	L	0.50333	1.59	0.24996	N	0.991501	P	0.45240	0.854	B	0.37550	0.253	T	0.21280	-1.0250	10	0.49607	T	0.09	-0.2187	12.8424	0.57811	0.0799:0.0:0.9201:0.0	.	27	Q5T686	AVPI1_HUMAN	L	27	ENSP00000359660:S27L	ENSP00000359660:S27L	S	-	2	0	AVPI1	99429573	0.994000	0.37717	0.382000	0.26119	0.972000	0.66771	3.037000	0.49775	1.384000	0.46424	-0.215000	0.12644	TCG	AVPI1	-	NULL	ENSG00000119986		0.647	AVPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPI1	HGNC	protein_coding	OTTHUMT00000049736.1	14	0.00	0	G	NM_021732		99439583	99439583	-1	no_errors	ENST00000370626	ensembl	human	known	69_37n	missense	13	38.10	8	SNP	0.764	A
BBS4	585	genome.wustl.edu	37	15	73024024	73024024	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr15:73024024C>T	ENST00000268057.4	+	12	1034	c.993C>T	c.(991-993)atC>atT	p.I331I	BBS4_ENST00000539603.1_Silent_p.I319I|BBS4_ENST00000395205.2_Silent_p.I339I|BBS4_ENST00000542334.1_Silent_p.I159I	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	331	Interaction with PCM1.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTGCGGCCATCAACTTCCAGC	0.443									Bardet-Biedl syndrome																													dbGAP											0													88.0	86.0	87.0					15																	73024024		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.993C>T	15.37:g.73024024C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	NULL	p.S1L	ENST00000268057.4	37	c.2	CCDS10246.1	15																																																																																			BBS4	-	NULL	ENSG00000140463		0.443	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS4	HGNC	protein_coding	OTTHUMT00000257473.2	200	0.00	0	C	NM_033028		73024024	73024024	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000566197	ensembl	human	novel	69_37n	missense	129	28.73	52	SNP	1.000	T
BBS4	585	genome.wustl.edu	37	15	73024024	73024024	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr15:73024024C>T	ENST00000268057.4	+	12	1034	c.993C>T	c.(991-993)atC>atT	p.I331I	BBS4_ENST00000539603.1_Silent_p.I319I|BBS4_ENST00000395205.2_Silent_p.I339I|BBS4_ENST00000542334.1_Silent_p.I159I	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	331	Interaction with PCM1.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTGCGGCCATCAACTTCCAGC	0.443									Bardet-Biedl syndrome																													dbGAP											0													88.0	86.0	87.0					15																	73024024		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.993C>T	15.37:g.73024024C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	NULL	p.S1L	ENST00000268057.4	37	c.2	CCDS10246.1	15																																																																																			BBS4	-	NULL	ENSG00000140463		0.443	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS4	HGNC	protein_coding	OTTHUMT00000257473.2	121	0.00	0	C	NM_033028		73024024	73024024	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000566197	ensembl	human	novel	69_37n	missense	129	28.73	52	SNP	1.000	T
BBS9	27241	genome.wustl.edu	37	7	33545131	33545131	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr7:33545131C>T	ENST00000242067.6	+	20	2693	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	BBS9_ENST00000350941.3_Silent_p.F684F|BBS9_ENST00000355070.2_Silent_p.F719F|BBS9_ENST00000354265.4_Silent_p.F689F|BBS9_ENST00000396127.2_Silent_p.F689F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	724	Interaction with LZTL1.				cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCCAGTCATTCACCAGGCTGA	0.468									Bardet-Biedl syndrome																													dbGAP											0													172.0	152.0	159.0					7																	33545131		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2172C>T	7.37:g.33545131C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.H291Y	ENST00000242067.6	37	c.871	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	C	6.813	0.519100	0.13005	.	.	ENSG00000122507	ENST00000434373	.	.	.	5.71	1.88	0.25563	.	.	.	.	.	T	0.53465	0.1798	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39921	-0.9590	4	.	.	.	-10.9708	5.905	0.18992	0.0:0.5268:0.1249:0.3483	.	.	.	.	Y	291	.	.	H	+	1	0	BBS9	33511656	0.609000	0.26975	0.663000	0.29738	0.979000	0.70002	-0.018000	0.12568	0.076000	0.16826	-0.145000	0.13849	CAC	BBS9	-	NULL	ENSG00000122507		0.468	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	193	0.00	0	C			33545131	33545131	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000434373	ensembl	human	known	69_37n	missense	155	29.09	64	SNP	0.397	T
BBS9	27241	genome.wustl.edu	37	7	33545131	33545131	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr7:33545131C>T	ENST00000242067.6	+	20	2693	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	BBS9_ENST00000350941.3_Silent_p.F684F|BBS9_ENST00000355070.2_Silent_p.F719F|BBS9_ENST00000354265.4_Silent_p.F689F|BBS9_ENST00000396127.2_Silent_p.F689F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	724	Interaction with LZTL1.				cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCCAGTCATTCACCAGGCTGA	0.468									Bardet-Biedl syndrome																													dbGAP											0													172.0	152.0	159.0					7																	33545131		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2172C>T	7.37:g.33545131C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.H291Y	ENST00000242067.6	37	c.871	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	C	6.813	0.519100	0.13005	.	.	ENSG00000122507	ENST00000434373	.	.	.	5.71	1.88	0.25563	.	.	.	.	.	T	0.53465	0.1798	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39921	-0.9590	4	.	.	.	-10.9708	5.905	0.18992	0.0:0.5268:0.1249:0.3483	.	.	.	.	Y	291	.	.	H	+	1	0	BBS9	33511656	0.609000	0.26975	0.663000	0.29738	0.979000	0.70002	-0.018000	0.12568	0.076000	0.16826	-0.145000	0.13849	CAC	BBS9	-	NULL	ENSG00000122507		0.468	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	218	0.00	0	C			33545131	33545131	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000434373	ensembl	human	known	69_37n	missense	155	29.09	64	SNP	0.397	T
BPTF	2186	genome.wustl.edu	37	17	65916216	65916216	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:65916216C>G	ENST00000321892.4	+	15	5953	c.5892C>G	c.(5890-5892)atC>atG	p.I1964M	BPTF_ENST00000335221.5_Missense_Mutation_p.I1964M|BPTF_ENST00000424123.3_Missense_Mutation_p.I1825M|BPTF_ENST00000306378.6_Missense_Mutation_p.I1838M			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1964					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATATTGTATCAGGAAAATCA	0.323																																						dbGAP											0													124.0	129.0	127.0					17																	65916216		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5892C>G	17.37:g.65916216C>G	ENSP00000315454:p.Ile1964Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.I1964M	ENST00000321892.4	37	c.5892		17	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286931	0.40494	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.12147	2.71;2.71;2.71	5.65	2.61	0.31194	.	.	.	.	.	T	0.16642	0.0400	L	0.28274	0.84	0.51767	D	0.999938	D;D	0.55800	0.973;0.973	P;P	0.61592	0.847;0.891	T	0.07121	-1.0789	9	0.45353	T	0.12	-6.9013	4.5601	0.12156	0.1761:0.5201:0.0:0.3038	.	1838;1964	Q12830-2;Q12830-4	.;.	M	1838;1964;1964	ENSP00000307208:I1838M;ENSP00000334351:I1964M;ENSP00000315454:I1964M	ENSP00000307208:I1838M	I	+	3	3	BPTF	63346678	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.280000	0.33202	0.339000	0.23719	-0.137000	0.14449	ATC	BPTF	-	NULL	ENSG00000171634		0.323	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		203	0.00	0	C	NM_182641, NM_004459		65916216	65916216	+1	no_errors	ENST00000321892	ensembl	human	known	69_37n	missense	309	17.82	67	SNP	1.000	G
BPTF	2186	genome.wustl.edu	37	17	65916216	65916216	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:65916216C>G	ENST00000321892.4	+	15	5953	c.5892C>G	c.(5890-5892)atC>atG	p.I1964M	BPTF_ENST00000335221.5_Missense_Mutation_p.I1964M|BPTF_ENST00000424123.3_Missense_Mutation_p.I1825M|BPTF_ENST00000306378.6_Missense_Mutation_p.I1838M			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1964					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATATTGTATCAGGAAAATCA	0.323																																						dbGAP											0													124.0	129.0	127.0					17																	65916216		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5892C>G	17.37:g.65916216C>G	ENSP00000315454:p.Ile1964Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.I1964M	ENST00000321892.4	37	c.5892		17	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286931	0.40494	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.12147	2.71;2.71;2.71	5.65	2.61	0.31194	.	.	.	.	.	T	0.16642	0.0400	L	0.28274	0.84	0.51767	D	0.999938	D;D	0.55800	0.973;0.973	P;P	0.61592	0.847;0.891	T	0.07121	-1.0789	9	0.45353	T	0.12	-6.9013	4.5601	0.12156	0.1761:0.5201:0.0:0.3038	.	1838;1964	Q12830-2;Q12830-4	.;.	M	1838;1964;1964	ENSP00000307208:I1838M;ENSP00000334351:I1964M;ENSP00000315454:I1964M	ENSP00000307208:I1838M	I	+	3	3	BPTF	63346678	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.280000	0.33202	0.339000	0.23719	-0.137000	0.14449	ATC	BPTF	-	NULL	ENSG00000171634		0.323	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		115	0.00	0	C	NM_182641, NM_004459		65916216	65916216	+1	no_errors	ENST00000321892	ensembl	human	known	69_37n	missense	309	17.82	67	SNP	1.000	G
BRWD1	54014	genome.wustl.edu	37	21	40571393	40571393	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr21:40571393G>C	ENST00000333229.2	-	40	5276	c.4949C>G	c.(4948-4950)tCt>tGt	p.S1650C	BRWD1_ENST00000342449.3_Missense_Mutation_p.S1650C|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1650C	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1650					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCAGAGCTAGAATTCTCTTC	0.408											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Melanoma(170;988 1986 4794 16843 39731)	dbGAP											0													87.0	89.0	88.0					21																	40571393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4949C>G	21.37:g.40571393G>C	ENSP00000330753:p.Ser1650Cys	Somatic	894	WXS	Illumina GAIIx	Phase_IV	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1650C	ENST00000333229.2	37	c.4949	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294207	0.60086	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.59638	0.29;0.25;0.35	5.51	4.44	0.53790	.	0.350341	0.25363	N	0.031212	T	0.70640	0.3247	M	0.70275	2.135	0.33021	D	0.528815	D;D	0.71674	0.998;0.998	P;P	0.61592	0.891;0.87	T	0.78066	-0.2349	10	0.51188	T	0.08	-9.7048	13.4931	0.61408	0.0848:0.0:0.9151:0.0	.	1650;1650	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	C	1650	ENSP00000330753:S1650C;ENSP00000344333:S1650C;ENSP00000370178:S1650C	ENSP00000330753:S1650C	S	-	2	0	BRWD1	39493263	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.581000	0.60949	2.593000	0.87608	0.655000	0.94253	TCT	BRWD1	-	NULL	ENSG00000185658		0.408	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	212	0.00	0	G	NM_033656		40571393	40571393	-1	no_errors	ENST00000333229	ensembl	human	known	69_37n	missense	183	37.33	109	SNP	0.730	C
BRWD1	54014	genome.wustl.edu	37	21	40571393	40571393	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr21:40571393G>C	ENST00000333229.2	-	40	5276	c.4949C>G	c.(4948-4950)tCt>tGt	p.S1650C	BRWD1_ENST00000342449.3_Missense_Mutation_p.S1650C|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1650C	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1650					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCAGAGCTAGAATTCTCTTC	0.408											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Melanoma(170;988 1986 4794 16843 39731)	dbGAP											0													87.0	89.0	88.0					21																	40571393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4949C>G	21.37:g.40571393G>C	ENSP00000330753:p.Ser1650Cys	Somatic	894	WXS	Illumina GAIIx	Phase_IV	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1650C	ENST00000333229.2	37	c.4949	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294207	0.60086	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.59638	0.29;0.25;0.35	5.51	4.44	0.53790	.	0.350341	0.25363	N	0.031212	T	0.70640	0.3247	M	0.70275	2.135	0.33021	D	0.528815	D;D	0.71674	0.998;0.998	P;P	0.61592	0.891;0.87	T	0.78066	-0.2349	10	0.51188	T	0.08	-9.7048	13.4931	0.61408	0.0848:0.0:0.9151:0.0	.	1650;1650	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	C	1650	ENSP00000330753:S1650C;ENSP00000344333:S1650C;ENSP00000370178:S1650C	ENSP00000330753:S1650C	S	-	2	0	BRWD1	39493263	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.581000	0.60949	2.593000	0.87608	0.655000	0.94253	TCT	BRWD1	-	NULL	ENSG00000185658		0.408	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	196	0.00	0	G	NM_033656		40571393	40571393	-1	no_errors	ENST00000333229	ensembl	human	known	69_37n	missense	183	37.33	109	SNP	0.730	C
C12orf36	283422	genome.wustl.edu	37	12	13529169	13529169	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr12:13529169C>G	ENST00000318426.2	-	2	388	c.171G>C	c.(169-171)caG>caC	p.Q57H	C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000539026.1_Missense_Mutation_p.Q57H|C12orf36_ENST00000527705.2_Missense_Mutation_p.Q57H|C12orf36_ENST00000532841.1_Missense_Mutation_p.Q57H					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		tccacagcctctgagtccctc	0.502																																						dbGAP											0													94.0	94.0	94.0					12																	13529169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.171G>C	12.37:g.13529169C>G	ENSP00000443007:p.Gln57His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.Q57H	ENST00000318426.2	37	c.171		12	.	.	.	.	.	.	.	.	.	.	C	4.551	0.102312	0.08731	.	.	ENSG00000180861	ENST00000318426;ENST00000527705;ENST00000539026;ENST00000532841	T;T;T;T	0.56275	1.64;1.64;0.56;0.47	2.99	0.96	0.19631	.	.	.	.	.	T	0.52629	0.1746	.	.	.	0.09310	N	1	D	0.55605	0.972	P	0.52217	0.693	T	0.43523	-0.9386	8	0.87932	D	0	.	4.4411	0.11575	0.0:0.6162:0.0:0.3838	.	57	Q495D7	CL036_HUMAN	H	57	ENSP00000443007:Q57H;ENSP00000443346:Q57H;ENSP00000445251:Q57H;ENSP00000440159:Q57H	ENSP00000443007:Q57H	Q	-	3	2	C12orf36	13420436	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.065000	0.14466	0.227000	0.20999	0.563000	0.77884	CAG	C12orf36	-	NULL	ENSG00000180861		0.502	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	C12orf36	HGNC	protein_coding	OTTHUMT00000395025.2	231	0.00	0	C	NM_182558		13529169	13529169	-1	no_errors	ENST00000318426	ensembl	human	known	69_37n	missense	116	41.41	82	SNP	0.001	G
C12orf36	283422	genome.wustl.edu	37	12	13529169	13529169	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr12:13529169C>G	ENST00000318426.2	-	2	388	c.171G>C	c.(169-171)caG>caC	p.Q57H	C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000539026.1_Missense_Mutation_p.Q57H|C12orf36_ENST00000527705.2_Missense_Mutation_p.Q57H|C12orf36_ENST00000532841.1_Missense_Mutation_p.Q57H					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		tccacagcctctgagtccctc	0.502																																						dbGAP											0													94.0	94.0	94.0					12																	13529169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.171G>C	12.37:g.13529169C>G	ENSP00000443007:p.Gln57His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.Q57H	ENST00000318426.2	37	c.171		12	.	.	.	.	.	.	.	.	.	.	C	4.551	0.102312	0.08731	.	.	ENSG00000180861	ENST00000318426;ENST00000527705;ENST00000539026;ENST00000532841	T;T;T;T	0.56275	1.64;1.64;0.56;0.47	2.99	0.96	0.19631	.	.	.	.	.	T	0.52629	0.1746	.	.	.	0.09310	N	1	D	0.55605	0.972	P	0.52217	0.693	T	0.43523	-0.9386	8	0.87932	D	0	.	4.4411	0.11575	0.0:0.6162:0.0:0.3838	.	57	Q495D7	CL036_HUMAN	H	57	ENSP00000443007:Q57H;ENSP00000443346:Q57H;ENSP00000445251:Q57H;ENSP00000440159:Q57H	ENSP00000443007:Q57H	Q	-	3	2	C12orf36	13420436	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.065000	0.14466	0.227000	0.20999	0.563000	0.77884	CAG	C12orf36	-	NULL	ENSG00000180861		0.502	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	C12orf36	HGNC	protein_coding	OTTHUMT00000395025.2	169	0.00	0	C	NM_182558		13529169	13529169	-1	no_errors	ENST00000318426	ensembl	human	known	69_37n	missense	116	41.41	82	SNP	0.001	G
C12orf66	144577	genome.wustl.edu	37	12	64609478	64609478	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr12:64609478G>A	ENST00000398055.3	-	2	554	c.501C>T	c.(499-501)atC>atT	p.I167I	C12orf66_ENST00000544871.1_Silent_p.I114I|C12orf66_ENST00000311915.8_Silent_p.I167I	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	167										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						ATTTTTTCATGATGGCATCCA	0.498																																						dbGAP											0													64.0	61.0	62.0					12																	64609478		1980	4167	6147	-	-	-	SO:0001819	synonymous_variant	0				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.501C>T	12.37:g.64609478G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JX54|Q8IYA0	Silent	SNP	pfam_DUF2003	p.I167	ENST00000398055.3	37	c.501	CCDS41803.1	12																																																																																			C12orf66	-	pfam_DUF2003	ENSG00000174206		0.498	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	75	0.00	0	G	NM_152440		64609478	64609478	-1	no_errors	ENST00000398055	ensembl	human	known	69_37n	silent	66	29.79	28	SNP	1.000	A
C12orf66	144577	genome.wustl.edu	37	12	64609478	64609478	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr12:64609478G>A	ENST00000398055.3	-	2	554	c.501C>T	c.(499-501)atC>atT	p.I167I	C12orf66_ENST00000544871.1_Silent_p.I114I|C12orf66_ENST00000311915.8_Silent_p.I167I	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	167										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						ATTTTTTCATGATGGCATCCA	0.498																																						dbGAP											0													64.0	61.0	62.0					12																	64609478		1980	4167	6147	-	-	-	SO:0001819	synonymous_variant	0				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.501C>T	12.37:g.64609478G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JX54|Q8IYA0	Silent	SNP	pfam_DUF2003	p.I167	ENST00000398055.3	37	c.501	CCDS41803.1	12																																																																																			C12orf66	-	pfam_DUF2003	ENSG00000174206		0.498	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	84	0.00	0	G	NM_152440		64609478	64609478	-1	no_errors	ENST00000398055	ensembl	human	known	69_37n	silent	66	29.79	28	SNP	1.000	A
C19orf53	28974	genome.wustl.edu	37	19	13888907	13888907	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:13888907G>A	ENST00000588234.1	+	3	505	c.195G>A	c.(193-195)gtG>gtA	p.V65V	C19orf53_ENST00000593274.1_Silent_p.V22V	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	65										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AACATGACGTGGTGATGAAAG	0.587																																						dbGAP											0													105.0	101.0	102.0					19																	13888907		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.195G>A	19.37:g.13888907G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4J9	Silent	SNP	pfam_UPF0390	p.V65	ENST00000588234.1	37	c.195	CCDS12298.1	19																																																																																			C19orf53	-	pfam_UPF0390	ENSG00000104979		0.587	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf53	HGNC	protein_coding	OTTHUMT00000453621.1	283	0.35	1	G	NM_014047		13888907	13888907	+1	no_errors	ENST00000588234	ensembl	human	known	69_37n	silent	98	32.41	47	SNP	0.140	A
C19orf53	28974	genome.wustl.edu	37	19	13888907	13888907	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:13888907G>A	ENST00000588234.1	+	3	505	c.195G>A	c.(193-195)gtG>gtA	p.V65V	C19orf53_ENST00000593274.1_Silent_p.V22V	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	65										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AACATGACGTGGTGATGAAAG	0.587																																						dbGAP											0													105.0	101.0	102.0					19																	13888907		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.195G>A	19.37:g.13888907G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4J9	Silent	SNP	pfam_UPF0390	p.V65	ENST00000588234.1	37	c.195	CCDS12298.1	19																																																																																			C19orf53	-	pfam_UPF0390	ENSG00000104979		0.587	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf53	HGNC	protein_coding	OTTHUMT00000453621.1	97	0.00	0	G	NM_014047		13888907	13888907	+1	no_errors	ENST00000588234	ensembl	human	known	69_37n	silent	98	32.41	47	SNP	0.140	A
C2orf16	84226	genome.wustl.edu	37	2	27801094	27801094	+	Missense_Mutation	SNP	C	C	T	rs376241560		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:27801094C>T	ENST00000408964.2	+	1	1706	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	552						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTGAGACCTTCAGAGCACCAC	0.408																																						dbGAP											0													71.0	65.0	67.0					2																	27801094		1912	4135	6047	-	-	-	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1655C>T	2.37:g.27801094C>T	ENSP00000386190:p.Ser552Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.S552L	ENST00000408964.2	37	c.1655	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987409	0.35036	.	.	ENSG00000221843	ENST00000408964	T	0.06294	3.32	3.85	1.04	0.20106	.	.	.	.	.	T	0.05135	0.0137	L	0.29908	0.895	0.09310	N	1	B	0.23735	0.09	B	0.26310	0.068	T	0.40040	-0.9584	9	0.87932	D	0	.	4.3649	0.11220	0.0:0.6042:0.1849:0.2109	.	552	Q68DN1	CB016_HUMAN	L	552	ENSP00000386190:S552L	ENSP00000386190:S552L	S	+	2	0	C2orf16	27654598	0.004000	0.15560	0.001000	0.08648	0.375000	0.29983	0.149000	0.16243	0.223000	0.20920	0.561000	0.74099	TCA	C2orf16	-	NULL	ENSG00000221843		0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	213	0.00	0	C	NM_032266		27801094	27801094	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	missense	151	27.75	58	SNP	0.007	T
C2orf16	84226	genome.wustl.edu	37	2	27801094	27801094	+	Missense_Mutation	SNP	C	C	T	rs376241560		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:27801094C>T	ENST00000408964.2	+	1	1706	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	552						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTGAGACCTTCAGAGCACCAC	0.408																																						dbGAP											0													71.0	65.0	67.0					2																	27801094		1912	4135	6047	-	-	-	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1655C>T	2.37:g.27801094C>T	ENSP00000386190:p.Ser552Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.S552L	ENST00000408964.2	37	c.1655	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987409	0.35036	.	.	ENSG00000221843	ENST00000408964	T	0.06294	3.32	3.85	1.04	0.20106	.	.	.	.	.	T	0.05135	0.0137	L	0.29908	0.895	0.09310	N	1	B	0.23735	0.09	B	0.26310	0.068	T	0.40040	-0.9584	9	0.87932	D	0	.	4.3649	0.11220	0.0:0.6042:0.1849:0.2109	.	552	Q68DN1	CB016_HUMAN	L	552	ENSP00000386190:S552L	ENSP00000386190:S552L	S	+	2	0	C2orf16	27654598	0.004000	0.15560	0.001000	0.08648	0.375000	0.29983	0.149000	0.16243	0.223000	0.20920	0.561000	0.74099	TCA	C2orf16	-	NULL	ENSG00000221843		0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	153	0.00	0	C	NM_032266		27801094	27801094	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	missense	151	27.75	58	SNP	0.007	T
C6orf62	81688	genome.wustl.edu	37	6	24706365	24706365	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:24706365C>G	ENST00000378119.4	-	5	2857	c.690G>C	c.(688-690)taG>taC	p.*230Y	C6orf62_ENST00000378102.3_Nonstop_Mutation_p.*201Y|C6orf62_ENST00000540769.1_Nonstop_Mutation_p.*172Y|RP1-30M3.6_ENST00000606921.1_RNA	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	0						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GGTCAGTACTCTACTCTGGCA	0.443																																						dbGAP											0													107.0	93.0	98.0					6																	24706365		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.690G>C	6.37:g.24706365C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Nonstop_Mutation	SNP	NULL	p.*230Y	ENST00000378119.4	37	c.690	CCDS4559.1	6	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996565	0.54147	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	.	.	.	5.95	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6488	0.34022	0.0:0.6988:0.0:0.3012	.	.	.	.	Y	230;172;201	.	.	X	-	3	2	C6orf62	24814344	1.000000	0.71417	0.459000	0.27081	0.983000	0.72400	1.566000	0.36396	0.872000	0.35775	0.655000	0.94253	TAG	C6orf62	-	NULL	ENSG00000112308		0.443	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf62	HGNC	protein_coding	OTTHUMT00000040017.1	59	0.00	0	C	NM_030939		24706365	24706365	-1	no_errors	ENST00000378119	ensembl	human	known	69_37n	nonstop	41	36.92	24	SNP	0.991	G
C6orf62	81688	genome.wustl.edu	37	6	24706365	24706365	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:24706365C>G	ENST00000378119.4	-	5	2857	c.690G>C	c.(688-690)taG>taC	p.*230Y	C6orf62_ENST00000378102.3_Nonstop_Mutation_p.*201Y|C6orf62_ENST00000540769.1_Nonstop_Mutation_p.*172Y|RP1-30M3.6_ENST00000606921.1_RNA	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	0						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GGTCAGTACTCTACTCTGGCA	0.443																																						dbGAP											0													107.0	93.0	98.0					6																	24706365		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.690G>C	6.37:g.24706365C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Nonstop_Mutation	SNP	NULL	p.*230Y	ENST00000378119.4	37	c.690	CCDS4559.1	6	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996565	0.54147	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	.	.	.	5.95	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6488	0.34022	0.0:0.6988:0.0:0.3012	.	.	.	.	Y	230;172;201	.	.	X	-	3	2	C6orf62	24814344	1.000000	0.71417	0.459000	0.27081	0.983000	0.72400	1.566000	0.36396	0.872000	0.35775	0.655000	0.94253	TAG	C6orf62	-	NULL	ENSG00000112308		0.443	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf62	HGNC	protein_coding	OTTHUMT00000040017.1	56	0.00	0	C	NM_030939		24706365	24706365	-1	no_errors	ENST00000378119	ensembl	human	known	69_37n	nonstop	41	36.92	24	SNP	0.991	G
C6orf10	10665	genome.wustl.edu	37	6	32261367	32261367	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:32261367C>T	ENST00000447241.2	-	23	1255	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	C6orf10_ENST00000442822.2_Silent_p.L352L|C6orf10_ENST00000375015.4_Silent_p.L360L|C6orf10_ENST00000375007.4_Silent_p.L359L|C6orf10_ENST00000527965.1_Silent_p.L345L|C6orf10_ENST00000533191.1_Silent_p.L359L	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	361						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCTGTCCTTTCAGTACAACCA	0.493																																						dbGAP											0													212.0	208.0	210.0					6																	32261367		1511	2708	4219	-	-	-	SO:0001819	synonymous_variant	0			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1083G>A	6.37:g.32261367C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Silent	SNP	NULL	p.L361	ENST00000447241.2	37	c.1083	CCDS34422.1	6																																																																																			C6orf10	-	NULL	ENSG00000204296		0.493	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	HGNC	protein_coding	OTTHUMT00000076178.4	570	0.00	0	C	NM_006781		32261367	32261367	-1	no_errors	ENST00000447241	ensembl	human	known	69_37n	silent	437	31.50	201	SNP	0.002	T
C6orf10	10665	genome.wustl.edu	37	6	32261367	32261367	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:32261367C>T	ENST00000447241.2	-	23	1255	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	C6orf10_ENST00000442822.2_Silent_p.L352L|C6orf10_ENST00000375015.4_Silent_p.L360L|C6orf10_ENST00000375007.4_Silent_p.L359L|C6orf10_ENST00000527965.1_Silent_p.L345L|C6orf10_ENST00000533191.1_Silent_p.L359L	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	361						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCTGTCCTTTCAGTACAACCA	0.493																																						dbGAP											0													212.0	208.0	210.0					6																	32261367		1511	2708	4219	-	-	-	SO:0001819	synonymous_variant	0			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1083G>A	6.37:g.32261367C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Silent	SNP	NULL	p.L361	ENST00000447241.2	37	c.1083	CCDS34422.1	6																																																																																			C6orf10	-	NULL	ENSG00000204296		0.493	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	HGNC	protein_coding	OTTHUMT00000076178.4	559	0.00	0	C	NM_006781		32261367	32261367	-1	no_errors	ENST00000447241	ensembl	human	known	69_37n	silent	437	31.50	201	SNP	0.002	T
SUGCT	79783	genome.wustl.edu	37	7	40220545	40220545	+	Splice_Site	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr7:40220545G>C	ENST00000335693.4	+	2	144		c.e2-1		C7orf10_ENST00000401647.2_Splice_Site|C7orf10_ENST00000540834.1_Splice_Site|C7orf10_ENST00000309930.5_Splice_Site	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN							metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TGTTTTGCCAGATATGAACAA	0.328																																						dbGAP											0													242.0	236.0	238.0					7																	40220545		1803	4080	5883	-	-	-	SO:0001630	splice_region_variant	0																														ENST00000335693.4:c.122-1G>C	7.37:g.40220545G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Splice_Site	SNP	-	e2-1	ENST00000335693.4	37	c.122-1	CCDS55105.1	7	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425960	0.43020	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693;ENST00000413931;ENST00000416370;ENST00000540834	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3322	0.83039	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf10	40187070	1.000000	0.71417	0.961000	0.40146	0.542000	0.35054	6.411000	0.73298	2.572000	0.86782	0.591000	0.81541	.	C7orf10	-	-	ENSG00000175600		0.328	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	HGNC	protein_coding	OTTHUMT00000338388.1	278	0.00	0	G		Intron	40220545	40220545	+1	no_errors	ENST00000309930	ensembl	human	known	69_37n	splice_site	316	28.44	126	SNP	0.995	C
SUGCT	79783	genome.wustl.edu	37	7	40220545	40220545	+	Splice_Site	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr7:40220545G>C	ENST00000335693.4	+	2	144		c.e2-1		C7orf10_ENST00000401647.2_Splice_Site|C7orf10_ENST00000540834.1_Splice_Site|C7orf10_ENST00000309930.5_Splice_Site	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN							metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TGTTTTGCCAGATATGAACAA	0.328																																						dbGAP											0													242.0	236.0	238.0					7																	40220545		1803	4080	5883	-	-	-	SO:0001630	splice_region_variant	0																														ENST00000335693.4:c.122-1G>C	7.37:g.40220545G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Splice_Site	SNP	-	e2-1	ENST00000335693.4	37	c.122-1	CCDS55105.1	7	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425960	0.43020	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693;ENST00000413931;ENST00000416370;ENST00000540834	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3322	0.83039	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf10	40187070	1.000000	0.71417	0.961000	0.40146	0.542000	0.35054	6.411000	0.73298	2.572000	0.86782	0.591000	0.81541	.	C7orf10	-	-	ENSG00000175600		0.328	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	HGNC	protein_coding	OTTHUMT00000338388.1	250	0.00	0	G		Intron	40220545	40220545	+1	no_errors	ENST00000309930	ensembl	human	known	69_37n	splice_site	316	28.44	126	SNP	0.995	C
CABIN1	23523	genome.wustl.edu	37	22	24481034	24481034	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr22:24481034C>G	ENST00000398319.2	+	22	3578	c.3193C>G	c.(3193-3195)Cat>Gat	p.H1065D	CABIN1_ENST00000263119.5_Missense_Mutation_p.H1065D|CABIN1_ENST00000405822.2_Missense_Mutation_p.H1015D	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1065					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGCTGATTATCATTTCAAAAA	0.527																																						dbGAP											0													100.0	92.0	95.0					22																	24481034		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3193C>G	22.37:g.24481034C>G	ENSP00000381364:p.His1065Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H1065D	ENST00000398319.2	37	c.3193	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800550	0.90538	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.76316	-1.01;-1.01;-1.01	5.71	5.71	0.89125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86632	0.5979	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.85048	0.0927	10	0.45353	T	0.12	.	19.2798	0.94048	0.0:1.0:0.0:0.0	.	1015;1065	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	D	1065;1015;1065	ENSP00000263119:H1065D;ENSP00000384694:H1015D;ENSP00000381364:H1065D	ENSP00000263119:H1065D	H	+	1	0	CABIN1	22811034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.607000	0.82883	2.880000	0.98712	0.650000	0.86243	CAT	CABIN1	-	smart_TPR_repeat	ENSG00000099991		0.527	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	130	0.00	0	C	NM_012295		24481034	24481034	+1	no_errors	ENST00000263119	ensembl	human	known	69_37n	missense	60	34.41	32	SNP	1.000	G
CABIN1	23523	genome.wustl.edu	37	22	24481034	24481034	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr22:24481034C>G	ENST00000398319.2	+	22	3578	c.3193C>G	c.(3193-3195)Cat>Gat	p.H1065D	CABIN1_ENST00000263119.5_Missense_Mutation_p.H1065D|CABIN1_ENST00000405822.2_Missense_Mutation_p.H1015D	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1065					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGCTGATTATCATTTCAAAAA	0.527																																						dbGAP											0													100.0	92.0	95.0					22																	24481034		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3193C>G	22.37:g.24481034C>G	ENSP00000381364:p.His1065Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H1065D	ENST00000398319.2	37	c.3193	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800550	0.90538	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.76316	-1.01;-1.01;-1.01	5.71	5.71	0.89125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86632	0.5979	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.85048	0.0927	10	0.45353	T	0.12	.	19.2798	0.94048	0.0:1.0:0.0:0.0	.	1015;1065	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	D	1065;1015;1065	ENSP00000263119:H1065D;ENSP00000384694:H1015D;ENSP00000381364:H1065D	ENSP00000263119:H1065D	H	+	1	0	CABIN1	22811034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.607000	0.82883	2.880000	0.98712	0.650000	0.86243	CAT	CABIN1	-	smart_TPR_repeat	ENSG00000099991		0.527	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	64	0.00	0	C	NM_012295		24481034	24481034	+1	no_errors	ENST00000263119	ensembl	human	known	69_37n	missense	60	34.41	32	SNP	1.000	G
CABP2	51475	genome.wustl.edu	37	11	67287358	67287358	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr11:67287358G>A	ENST00000294288.4	-	6	612	c.543C>T	c.(541-543)ctC>ctT	p.L181L	CABP2_ENST00000353903.5_Silent_p.L124L	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	181	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GCAGGGCCTTGAGGGCCGCCC	0.657																																						dbGAP											0													48.0	48.0	48.0					11																	67287358		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"""EF-hand domain containing"""	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.543C>T	11.37:g.67287358G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L181	ENST00000294288.4	37	c.543	CCDS8170.1	11																																																																																			CABP2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000167791		0.657	CABP2-002	KNOWN	basic|CCDS	protein_coding	CABP2	HGNC	protein_coding	OTTHUMT00000397516.1	60	0.00	0	G			67287358	67287358	-1	no_errors	ENST00000294288	ensembl	human	known	69_37n	silent	38	20.83	10	SNP	1.000	A
CACNA1H	8912	genome.wustl.edu	37	16	1270974	1270974	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr16:1270974G>A	ENST00000348261.5	+	35	7290	c.7042G>A	c.(7042-7044)Ggt>Agt	p.G2348S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.G2342S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G2342S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2348					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCCAGGGGGTGGTGCAGATGA	0.711																																						dbGAP											0													11.0	13.0	12.0					16																	1270974		1835	4059	5894	-	-	-	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.7042G>A	16.37:g.1270974G>A	ENSP00000334198:p.Gly2348Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_PKD_2	p.W1094*	ENST00000348261.5	37	c.3281	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	g	2.802	-0.248839	0.05867	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.95588	-3.75;-3.7	3.85	-5.82	0.02333	.	.	.	.	.	D	0.82811	0.5118	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.75651	-0.3244	9	0.08381	T	0.77	.	7.9161	0.29818	0.1935:0.2889:0.5176:0.0	.	1094;1072;1078;2342;2348	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	S	2348;2342	ENSP00000334198:G2348S;ENSP00000351401:G2342S	ENSP00000334198:G2348S	G	+	1	0	CACNA1H	1210975	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.025000	0.12413	-0.918000	0.03808	-0.244000	0.11960	GGT	CACNA1H	-	NULL	ENSG00000196557		0.711	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	8	0.00	0	G	NM_001005407		1270974	1270974	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000569107	ensembl	human	novel	69_37n	nonsense	5	44.44	4	SNP	0.000	A
CACNA1H	8912	genome.wustl.edu	37	16	1270974	1270974	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr16:1270974G>A	ENST00000348261.5	+	35	7290	c.7042G>A	c.(7042-7044)Ggt>Agt	p.G2348S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.G2342S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G2342S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2348					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCCAGGGGGTGGTGCAGATGA	0.711																																						dbGAP											0													11.0	13.0	12.0					16																	1270974		1835	4059	5894	-	-	-	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.7042G>A	16.37:g.1270974G>A	ENSP00000334198:p.Gly2348Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_PKD_2	p.W1094*	ENST00000348261.5	37	c.3281	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	g	2.802	-0.248839	0.05867	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.95588	-3.75;-3.7	3.85	-5.82	0.02333	.	.	.	.	.	D	0.82811	0.5118	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.75651	-0.3244	9	0.08381	T	0.77	.	7.9161	0.29818	0.1935:0.2889:0.5176:0.0	.	1094;1072;1078;2342;2348	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	S	2348;2342	ENSP00000334198:G2348S;ENSP00000351401:G2342S	ENSP00000334198:G2348S	G	+	1	0	CACNA1H	1210975	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.025000	0.12413	-0.918000	0.03808	-0.244000	0.11960	GGT	CACNA1H	-	NULL	ENSG00000196557		0.711	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	11	0.00	0	G	NM_001005407		1270974	1270974	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000569107	ensembl	human	novel	69_37n	nonsense	5	44.44	4	SNP	0.000	A
CAMK2A	815	genome.wustl.edu	37	5	149636190	149636190	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr5:149636190G>C	ENST00000348628.6	-	6	1022	c.357C>G	c.(355-357)atC>atG	p.I119M	CAMK2A_ENST00000398376.3_Missense_Mutation_p.I119M	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCTCCAGGATCTGCTGGA	0.637																																						dbGAP											0													41.0	47.0	45.0					5																	149636190		2142	4277	6419	-	-	-	SO:0001583	missense	0			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.357C>G	5.37:g.149636190G>C	ENSP00000261793:p.Ile119Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I119M	ENST00000348628.6	37	c.357	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588383	0.66105	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.32515	1.45;1.45	5.1	4.22	0.49857	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.43366	0.1244	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.99;0.999;0.994	T	0.33777	-0.9855	10	0.87932	D	0	.	9.943	0.41591	0.1593:0.0:0.8407:0.0	.	119;119;119	Q9UQM7-2;Q9UQM7;A8K161	.;KCC2A_HUMAN;.	M	119	ENSP00000261793:I119M;ENSP00000381412:I119M	ENSP00000261793:I119M	I	-	3	3	CAMK2A	149616383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.046000	0.41260	2.381000	0.81170	0.491000	0.48974	ATC	CAMK2A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000070808		0.637	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	34	0.00	0	G	NM_015981		149636190	149636190	-1	no_errors	ENST00000398376	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	C
CAMK2A	815	genome.wustl.edu	37	5	149636190	149636190	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr5:149636190G>C	ENST00000348628.6	-	6	1022	c.357C>G	c.(355-357)atC>atG	p.I119M	CAMK2A_ENST00000398376.3_Missense_Mutation_p.I119M	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCTCCAGGATCTGCTGGA	0.637																																						dbGAP											0													41.0	47.0	45.0					5																	149636190		2142	4277	6419	-	-	-	SO:0001583	missense	0			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.357C>G	5.37:g.149636190G>C	ENSP00000261793:p.Ile119Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I119M	ENST00000348628.6	37	c.357	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588383	0.66105	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.32515	1.45;1.45	5.1	4.22	0.49857	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.43366	0.1244	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.99;0.999;0.994	T	0.33777	-0.9855	10	0.87932	D	0	.	9.943	0.41591	0.1593:0.0:0.8407:0.0	.	119;119;119	Q9UQM7-2;Q9UQM7;A8K161	.;KCC2A_HUMAN;.	M	119	ENSP00000261793:I119M;ENSP00000381412:I119M	ENSP00000261793:I119M	I	-	3	3	CAMK2A	149616383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.046000	0.41260	2.381000	0.81170	0.491000	0.48974	ATC	CAMK2A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000070808		0.637	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	14	0.00	0	G	NM_015981		149636190	149636190	-1	no_errors	ENST00000398376	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	C
CAPN2	824	genome.wustl.edu	37	1	223940585	223940585	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:223940585G>A	ENST00000295006.5	+	9	1371	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	CAPN2_ENST00000433674.2_Silent_p.K276K	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	354	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		ATACCTACAAGAAGTGGAAAC	0.542																																						dbGAP											0													96.0	97.0	96.0					1																	223940585		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1062G>A	1.37:g.223940585G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat	p.K354	ENST00000295006.5	37	c.1062	CCDS31035.1	1																																																																																			CAPN2	-	NULL	ENSG00000162909		0.542	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	142	0.00	0	G	NM_001748		223940585	223940585	+1	no_errors	ENST00000295006	ensembl	human	known	69_37n	silent	37	30.19	16	SNP	1.000	A
CAPN2	824	genome.wustl.edu	37	1	223940585	223940585	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:223940585G>A	ENST00000295006.5	+	9	1371	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	CAPN2_ENST00000433674.2_Silent_p.K276K	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	354	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		ATACCTACAAGAAGTGGAAAC	0.542																																						dbGAP											0													96.0	97.0	96.0					1																	223940585		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1062G>A	1.37:g.223940585G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat	p.K354	ENST00000295006.5	37	c.1062	CCDS31035.1	1																																																																																			CAPN2	-	NULL	ENSG00000162909		0.542	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	66	0.00	0	G	NM_001748		223940585	223940585	+1	no_errors	ENST00000295006	ensembl	human	known	69_37n	silent	37	30.19	16	SNP	1.000	A
CC2D1A	54862	genome.wustl.edu	37	19	14029787	14029787	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:14029787G>C	ENST00000318003.7	+	10	1322	c.1081G>C	c.(1081-1083)Gtg>Ctg	p.V361L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.V361L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	361					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCGGTACCAGGTGGCCGCAGC	0.687																																						dbGAP											0													13.0	21.0	18.0					19																	14029787		2041	4198	6239	-	-	-	SO:0001583	missense	0			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1081G>C	19.37:g.14029787G>C	ENSP00000313601:p.Val361Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.V361L	ENST00000318003.7	37	c.1081	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	7.401	0.632813	0.14322	.	.	ENSG00000132024	ENST00000318003;ENST00000397486	T	0.41400	1.0	4.75	3.72	0.42706	Domain of unknown function DM14 (1);	1.018820	0.07794	N	0.955366	T	0.31670	0.0804	L	0.33485	1.01	0.09310	N	1	B;B;B	0.18166	0.026;0.009;0.015	B;B;B	0.17433	0.018;0.007;0.016	T	0.22277	-1.0221	10	0.30078	T	0.28	-8.4417	6.3658	0.21453	0.2792:0.0:0.7208:0.0	.	361;361;115	Q6P1N0-2;Q6P1N0;C9J1T8	.;C2D1A_HUMAN;.	L	361;115	ENSP00000313601:V361L	ENSP00000313601:V361L	V	+	1	0	CC2D1A	13890787	0.000000	0.05858	0.062000	0.19696	0.480000	0.33159	0.069000	0.14552	1.233000	0.43693	0.561000	0.74099	GTG	CC2D1A	-	smart_DM14	ENSG00000132024		0.687	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	21	0.00	0	G	NM_017721		14029787	14029787	+1	no_errors	ENST00000318003	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	0.001	C
CC2D1A	54862	genome.wustl.edu	37	19	14029787	14029787	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:14029787G>C	ENST00000318003.7	+	10	1322	c.1081G>C	c.(1081-1083)Gtg>Ctg	p.V361L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.V361L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	361					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCGGTACCAGGTGGCCGCAGC	0.687																																						dbGAP											0													13.0	21.0	18.0					19																	14029787		2041	4198	6239	-	-	-	SO:0001583	missense	0			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1081G>C	19.37:g.14029787G>C	ENSP00000313601:p.Val361Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.V361L	ENST00000318003.7	37	c.1081	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	7.401	0.632813	0.14322	.	.	ENSG00000132024	ENST00000318003;ENST00000397486	T	0.41400	1.0	4.75	3.72	0.42706	Domain of unknown function DM14 (1);	1.018820	0.07794	N	0.955366	T	0.31670	0.0804	L	0.33485	1.01	0.09310	N	1	B;B;B	0.18166	0.026;0.009;0.015	B;B;B	0.17433	0.018;0.007;0.016	T	0.22277	-1.0221	10	0.30078	T	0.28	-8.4417	6.3658	0.21453	0.2792:0.0:0.7208:0.0	.	361;361;115	Q6P1N0-2;Q6P1N0;C9J1T8	.;C2D1A_HUMAN;.	L	361;115	ENSP00000313601:V361L	ENSP00000313601:V361L	V	+	1	0	CC2D1A	13890787	0.000000	0.05858	0.062000	0.19696	0.480000	0.33159	0.069000	0.14552	1.233000	0.43693	0.561000	0.74099	GTG	CC2D1A	-	smart_DM14	ENSG00000132024		0.687	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	14	0.00	0	G	NM_017721		14029787	14029787	+1	no_errors	ENST00000318003	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	0.001	C
CCDC172	374355	genome.wustl.edu	37	10	118138002	118138002	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr10:118138002G>A	ENST00000333254.3	+	8	972	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	241																	TCTCCAAACAGAAATAGAATT	0.289																																						dbGAP											0													72.0	75.0	74.0					10																	118138002		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.721G>A	10.37:g.118138002G>A	ENSP00000329860:p.Glu241Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E241K	ENST00000333254.3	37	c.721	CCDS31291.1	10	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659563	0.88154	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.43	5.43	0.79202	.	0.173457	0.49916	D	0.000134	T	0.78566	0.4303	M	0.71581	2.175	0.45477	D	0.99844	D	0.76494	0.999	D	0.83275	0.996	T	0.80086	-0.1529	9	0.72032	D	0.01	-16.1217	16.5192	0.84309	0.0:0.0:1.0:0.0	.	241	P0C7W6	CJ096_HUMAN	K	241;174	.	ENSP00000329860:E241K	E	+	1	0	C10orf96	118127992	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.449000	0.66619	2.707000	0.92482	0.561000	0.74099	GAA	CCDC172	-	NULL	ENSG00000182645		0.289	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC172	HGNC	protein_coding	OTTHUMT00000050516.2	68	0.00	0	G	NM_198515		118138002	118138002	+1	no_errors	ENST00000333254	ensembl	human	known	69_37n	missense	57	25.97	20	SNP	1.000	A
CCDC172	374355	genome.wustl.edu	37	10	118138002	118138002	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr10:118138002G>A	ENST00000333254.3	+	8	972	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	241																	TCTCCAAACAGAAATAGAATT	0.289																																						dbGAP											0													72.0	75.0	74.0					10																	118138002		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.721G>A	10.37:g.118138002G>A	ENSP00000329860:p.Glu241Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E241K	ENST00000333254.3	37	c.721	CCDS31291.1	10	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659563	0.88154	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.43	5.43	0.79202	.	0.173457	0.49916	D	0.000134	T	0.78566	0.4303	M	0.71581	2.175	0.45477	D	0.99844	D	0.76494	0.999	D	0.83275	0.996	T	0.80086	-0.1529	9	0.72032	D	0.01	-16.1217	16.5192	0.84309	0.0:0.0:1.0:0.0	.	241	P0C7W6	CJ096_HUMAN	K	241;174	.	ENSP00000329860:E241K	E	+	1	0	C10orf96	118127992	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.449000	0.66619	2.707000	0.92482	0.561000	0.74099	GAA	CCDC172	-	NULL	ENSG00000182645		0.289	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC172	HGNC	protein_coding	OTTHUMT00000050516.2	53	0.00	0	G	NM_198515		118138002	118138002	+1	no_errors	ENST00000333254	ensembl	human	known	69_37n	missense	57	25.97	20	SNP	1.000	A
CCDC42	146849	genome.wustl.edu	37	17	8647906	8647906	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:8647906C>G	ENST00000293845.3	-	1	248	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	CCDC42_ENST00000539522.2_Missense_Mutation_p.E8Q	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	8										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						AGGTCTTCCTCTTCCATGATG	0.612																																						dbGAP											0													96.0	82.0	87.0					17																	8647906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.22G>C	17.37:g.8647906C>G	ENSP00000293845:p.Glu8Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6Q0	Missense_Mutation	SNP	NULL	p.E8Q	ENST00000293845.3	37	c.22	CCDS11145.1	17	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175648	0.78564	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.26518	1.73;1.74	5.14	4.1	0.47936	.	0.181580	0.39407	N	0.001379	T	0.28167	0.0695	N	0.19112	0.55	0.29325	N	0.86711	D	0.60575	0.988	P	0.57204	0.815	T	0.04203	-1.0969	10	0.62326	D	0.03	-26.0226	11.99	0.53169	0.173:0.827:0.0:0.0	.	8	Q96M95	CCD42_HUMAN	Q	8	ENSP00000293845:E8Q;ENSP00000444359:E8Q	ENSP00000293845:E8Q	E	-	1	0	CCDC42	8588631	0.939000	0.31865	1.000000	0.80357	0.984000	0.73092	1.336000	0.33850	2.556000	0.86216	0.561000	0.74099	GAG	CCDC42	-	NULL	ENSG00000161973		0.612	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42	HGNC	protein_coding	OTTHUMT00000442491.1	37	0.00	0	C	NM_144681		8647906	8647906	-1	no_errors	ENST00000293845	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	1.000	G
CCDC42	146849	genome.wustl.edu	37	17	8647906	8647906	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:8647906C>G	ENST00000293845.3	-	1	248	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	CCDC42_ENST00000539522.2_Missense_Mutation_p.E8Q	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	8										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						AGGTCTTCCTCTTCCATGATG	0.612																																						dbGAP											0													96.0	82.0	87.0					17																	8647906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.22G>C	17.37:g.8647906C>G	ENSP00000293845:p.Glu8Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6Q0	Missense_Mutation	SNP	NULL	p.E8Q	ENST00000293845.3	37	c.22	CCDS11145.1	17	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175648	0.78564	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.26518	1.73;1.74	5.14	4.1	0.47936	.	0.181580	0.39407	N	0.001379	T	0.28167	0.0695	N	0.19112	0.55	0.29325	N	0.86711	D	0.60575	0.988	P	0.57204	0.815	T	0.04203	-1.0969	10	0.62326	D	0.03	-26.0226	11.99	0.53169	0.173:0.827:0.0:0.0	.	8	Q96M95	CCD42_HUMAN	Q	8	ENSP00000293845:E8Q;ENSP00000444359:E8Q	ENSP00000293845:E8Q	E	-	1	0	CCDC42	8588631	0.939000	0.31865	1.000000	0.80357	0.984000	0.73092	1.336000	0.33850	2.556000	0.86216	0.561000	0.74099	GAG	CCDC42	-	NULL	ENSG00000161973		0.612	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42	HGNC	protein_coding	OTTHUMT00000442491.1	45	0.00	0	C	NM_144681		8647906	8647906	-1	no_errors	ENST00000293845	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	1.000	G
CCDC88A	55704	genome.wustl.edu	37	2	55522603	55522603	+	Intron	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:55522603C>T	ENST00000436346.1	-	31	6393				CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000336838.6_Intron|CCDC88A_ENST00000263630.8_Intron|CCDC88A_ENST00000413716.2_Intron	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A						activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCTTCCTGTTCTTGAGTTTCT	0.403																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5551+129G>A	2.37:g.55522603C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	NULL	p.R1069K	ENST00000436346.1	37	c.3206		2	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.889242	0.00527	.	.	ENSG00000115355	ENST00000426576	T	0.30981	1.51	5.31	2.46	0.29980	.	.	.	.	.	T	0.12561	0.0305	.	.	.	0.33475	D	0.586744	.	.	.	.	.	.	T	0.34453	-0.9828	6	0.02654	T	1	.	8.0475	0.30557	0.0:0.6184:0.2457:0.1359	.	.	.	.	K	1069	ENSP00000405080:R1069K	ENSP00000405080:R1069K	R	-	2	0	CCDC88A	55376107	0.406000	0.25344	0.115000	0.21578	0.022000	0.10575	0.670000	0.25157	0.283000	0.22279	-0.150000	0.13652	AGA	CCDC88A	-	NULL	ENSG00000115355		0.403	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		43	0.00	0	C	NM_017571		55522603	55522603	-1	no_start_codon	ENST00000426576	ensembl	human	putative	69_37n	missense	35	37.50	21	SNP	0.555	T
CCDC88A	55704	genome.wustl.edu	37	2	55522603	55522603	+	Intron	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:55522603C>T	ENST00000436346.1	-	31	6393				CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000336838.6_Intron|CCDC88A_ENST00000263630.8_Intron|CCDC88A_ENST00000413716.2_Intron	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A						activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCTTCCTGTTCTTGAGTTTCT	0.403																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5551+129G>A	2.37:g.55522603C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	NULL	p.R1069K	ENST00000436346.1	37	c.3206		2	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.889242	0.00527	.	.	ENSG00000115355	ENST00000426576	T	0.30981	1.51	5.31	2.46	0.29980	.	.	.	.	.	T	0.12561	0.0305	.	.	.	0.33475	D	0.586744	.	.	.	.	.	.	T	0.34453	-0.9828	6	0.02654	T	1	.	8.0475	0.30557	0.0:0.6184:0.2457:0.1359	.	.	.	.	K	1069	ENSP00000405080:R1069K	ENSP00000405080:R1069K	R	-	2	0	CCDC88A	55376107	0.406000	0.25344	0.115000	0.21578	0.022000	0.10575	0.670000	0.25157	0.283000	0.22279	-0.150000	0.13652	AGA	CCDC88A	-	NULL	ENSG00000115355		0.403	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		64	0.00	0	C	NM_017571		55522603	55522603	-1	no_start_codon	ENST00000426576	ensembl	human	putative	69_37n	missense	35	37.50	21	SNP	0.555	T
CCDC74B	91409	genome.wustl.edu	37	2	130898813	130898813	+	Missense_Mutation	SNP	G	G	A	rs142452531	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:130898813G>A	ENST00000310463.6	-	4	738	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	CCDC74B_ENST00000409128.1_Missense_Mutation_p.P177S|CCDC74B_ENST00000409943.3_Missense_Mutation_p.P135S|MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000392984.3_Missense_Mutation_p.P303S	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	201										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCCTTCTGGGGGACGTCAGCT	0.592																																						dbGAP											0													165.0	115.0	132.0					2																	130898813		2201	4264	6465	-	-	-	SO:0001583	missense	0				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.601C>T	2.37:g.130898813G>A	ENSP00000308873:p.Pro201Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NW18	Missense_Mutation	SNP	NULL	p.P303S	ENST00000310463.6	37	c.907	CCDS2155.1	2	114	0.0521978021978022	3	0.006097560975609756	31	0.0856353591160221	5	0.008741258741258742	75	0.09894459102902374	.	0.008	-1.866645	0.00547	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984;ENST00000409488;ENST00000409128	T;T;T;T	0.44881	1.9;1.93;1.87;0.91	2.39	1.48	0.22813	.	0.638174	0.12247	U	0.485969	T	0.00875	0.0029	M	0.62723	1.935	0.09310	N	1	P;B;B	0.50710	0.938;0.009;0.264	B;B;B	0.38156	0.266;0.015;0.05	T	0.02560	-1.1141	10	0.30854	T	0.27	-0.2433	4.9656	0.14089	0.1864:0.0:0.8136:0.0	.	303;135;201	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	S	135;201;303;139;177	ENSP00000386294:P135S;ENSP00000308873:P201S;ENSP00000376710:P303S;ENSP00000386644:P177S	ENSP00000308873:P201S	P	-	1	0	CCDC74B	130615283	0.000000	0.05858	0.044000	0.18714	0.014000	0.08584	0.104000	0.15313	0.333000	0.23563	0.298000	0.19748	CCC	CCDC74B	-	NULL	ENSG00000152076		0.592	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	27	0.00	0	G	NM_207310		130898813	130898813	-1	no_errors	ENST00000392984	ensembl	human	known	69_37n	missense	13	18.75	3	SNP	0.003	A
CCDC74B	91409	genome.wustl.edu	37	2	130898813	130898813	+	Missense_Mutation	SNP	G	G	A	rs142452531	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:130898813G>A	ENST00000310463.6	-	4	738	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	CCDC74B_ENST00000409128.1_Missense_Mutation_p.P177S|CCDC74B_ENST00000409943.3_Missense_Mutation_p.P135S|MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000392984.3_Missense_Mutation_p.P303S	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	201										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCCTTCTGGGGGACGTCAGCT	0.592																																						dbGAP											0													165.0	115.0	132.0					2																	130898813		2201	4264	6465	-	-	-	SO:0001583	missense	0				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.601C>T	2.37:g.130898813G>A	ENSP00000308873:p.Pro201Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NW18	Missense_Mutation	SNP	NULL	p.P303S	ENST00000310463.6	37	c.907	CCDS2155.1	2	114	0.0521978021978022	3	0.006097560975609756	31	0.0856353591160221	5	0.008741258741258742	75	0.09894459102902374	.	0.008	-1.866645	0.00547	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984;ENST00000409488;ENST00000409128	T;T;T;T	0.44881	1.9;1.93;1.87;0.91	2.39	1.48	0.22813	.	0.638174	0.12247	U	0.485969	T	0.00875	0.0029	M	0.62723	1.935	0.09310	N	1	P;B;B	0.50710	0.938;0.009;0.264	B;B;B	0.38156	0.266;0.015;0.05	T	0.02560	-1.1141	10	0.30854	T	0.27	-0.2433	4.9656	0.14089	0.1864:0.0:0.8136:0.0	.	303;135;201	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	S	135;201;303;139;177	ENSP00000386294:P135S;ENSP00000308873:P201S;ENSP00000376710:P303S;ENSP00000386644:P177S	ENSP00000308873:P201S	P	-	1	0	CCDC74B	130615283	0.000000	0.05858	0.044000	0.18714	0.014000	0.08584	0.104000	0.15313	0.333000	0.23563	0.298000	0.19748	CCC	CCDC74B	-	NULL	ENSG00000152076		0.592	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	37	0.00	0	G	NM_207310		130898813	130898813	-1	no_errors	ENST00000392984	ensembl	human	known	69_37n	missense	13	18.75	3	SNP	0.003	A
CCL21	6366	genome.wustl.edu	37	9	34709557	34709557	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr9:34709557C>T	ENST00000259607.2	-	3	368	c.311G>A	c.(310-312)aGg>aAg	p.R104K	CCL21_ENST00000378792.1_Missense_Mutation_p.R104K	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	104	C-terminal basic extension.				activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CCTGTCCTTCCTGCAGCCCTG	0.582																																						dbGAP											0													68.0	67.0	67.0					9																	34709557		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"""Chemokine ligands"", ""Endogenous ligands"""	10620	protein-coding gene	gene with protein product	"""beta chemokine exodus-2"", ""secondary lymphoid tissue chemokine"", ""Efficient Chemoattractant for Lymphocytes"""	602737	"""small inducible cytokine subfamily A (Cys-Cys), member 21"""	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.311G>A	9.37:g.34709557C>T	ENSP00000259607:p.Arg104Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R104K	ENST00000259607.2	37	c.311	CCDS6571.1	9	.	.	.	.	.	.	.	.	.	.	C	1.802	-0.476802	0.04414	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.02236	4.38;4.39	5.46	-1.45	0.08828	.	1.833930	0.02149	N	0.057831	T	0.01800	0.0057	N	0.16166	0.38	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47315	-0.9127	10	0.07644	T	0.81	-7.2112	10.738	0.46137	0.0:0.5875:0.0:0.4125	.	104	O00585	CCL21_HUMAN	K	104	ENSP00000259607:R104K;ENSP00000368069:R104K	ENSP00000259607:R104K	R	-	2	0	CCL21	34699557	0.002000	0.14202	0.000000	0.03702	0.008000	0.06430	-0.020000	0.12525	-0.211000	0.10124	-0.133000	0.14855	AGG	CCL21	-	NULL	ENSG00000137077		0.582	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCL21	HGNC	protein_coding	OTTHUMT00000052245.1	109	0.00	0	C	NM_002989		34709557	34709557	-1	no_errors	ENST00000259607	ensembl	human	known	69_37n	missense	97	26.87	36	SNP	0.000	T
CCL21	6366	genome.wustl.edu	37	9	34709557	34709557	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr9:34709557C>T	ENST00000259607.2	-	3	368	c.311G>A	c.(310-312)aGg>aAg	p.R104K	CCL21_ENST00000378792.1_Missense_Mutation_p.R104K	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	104	C-terminal basic extension.				activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CCTGTCCTTCCTGCAGCCCTG	0.582																																						dbGAP											0													68.0	67.0	67.0					9																	34709557		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"""Chemokine ligands"", ""Endogenous ligands"""	10620	protein-coding gene	gene with protein product	"""beta chemokine exodus-2"", ""secondary lymphoid tissue chemokine"", ""Efficient Chemoattractant for Lymphocytes"""	602737	"""small inducible cytokine subfamily A (Cys-Cys), member 21"""	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.311G>A	9.37:g.34709557C>T	ENSP00000259607:p.Arg104Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R104K	ENST00000259607.2	37	c.311	CCDS6571.1	9	.	.	.	.	.	.	.	.	.	.	C	1.802	-0.476802	0.04414	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.02236	4.38;4.39	5.46	-1.45	0.08828	.	1.833930	0.02149	N	0.057831	T	0.01800	0.0057	N	0.16166	0.38	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47315	-0.9127	10	0.07644	T	0.81	-7.2112	10.738	0.46137	0.0:0.5875:0.0:0.4125	.	104	O00585	CCL21_HUMAN	K	104	ENSP00000259607:R104K;ENSP00000368069:R104K	ENSP00000259607:R104K	R	-	2	0	CCL21	34699557	0.002000	0.14202	0.000000	0.03702	0.008000	0.06430	-0.020000	0.12525	-0.211000	0.10124	-0.133000	0.14855	AGG	CCL21	-	NULL	ENSG00000137077		0.582	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCL21	HGNC	protein_coding	OTTHUMT00000052245.1	109	0.00	0	C	NM_002989		34709557	34709557	-1	no_errors	ENST00000259607	ensembl	human	known	69_37n	missense	97	26.87	36	SNP	0.000	T
CDCP1	64866	genome.wustl.edu	37	3	45134773	45134773	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr3:45134773G>A	ENST00000296129.1	-	6	1757	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	541	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCTTACCTTTGAAATAAGGTA	0.468																																						dbGAP											0													53.0	58.0	56.0					3																	45134773		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1623C>T	3.37:g.45134773G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	superfamily_CUB	p.F541	ENST00000296129.1	37	c.1623	CCDS2727.1	3																																																																																			CDCP1	-	NULL	ENSG00000163814		0.468	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	HGNC	protein_coding	OTTHUMT00000256748.3	94	0.00	0	G	NM_022842		45134773	45134773	-1	no_errors	ENST00000296129	ensembl	human	known	69_37n	silent	60	37.50	36	SNP	0.973	A
CDCP1	64866	genome.wustl.edu	37	3	45134773	45134773	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr3:45134773G>A	ENST00000296129.1	-	6	1757	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	541	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCTTACCTTTGAAATAAGGTA	0.468																																						dbGAP											0													53.0	58.0	56.0					3																	45134773		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1623C>T	3.37:g.45134773G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	superfamily_CUB	p.F541	ENST00000296129.1	37	c.1623	CCDS2727.1	3																																																																																			CDCP1	-	NULL	ENSG00000163814		0.468	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	HGNC	protein_coding	OTTHUMT00000256748.3	182	0.00	0	G	NM_022842		45134773	45134773	-1	no_errors	ENST00000296129	ensembl	human	known	69_37n	silent	60	37.50	36	SNP	0.973	A
CEP85	64793	genome.wustl.edu	37	1	26603638	26603638	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:26603638G>C	ENST00000252992.4	+	14	2274	c.2143G>C	c.(2143-2145)Gag>Cag	p.E715Q	SH3BGRL3_ENST00000270792.5_5'Flank|SH3BGRL3_ENST00000319041.6_5'Flank|CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.E664Q	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	715						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						ACAGCACCCAGAGACTCAGCT	0.468																																						dbGAP											0													192.0	186.0	188.0					1																	26603638		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.2143G>C	1.37:g.26603638G>C	ENSP00000252992:p.Glu715Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	NULL	p.E715Q	ENST00000252992.4	37	c.2143	CCDS277.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.50|10.50	1.366780|1.366780	0.24771|0.24771	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000451429;ENST00000252992|ENST00000453146	T;T|.	0.11277|.	2.79;2.79|.	5.92|5.92	3.99|3.99	0.46301|0.46301	.|.	0.314225|.	0.37437|.	N|.	0.002094|.	T|T	0.34454|0.34454	0.0898|0.0898	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999996|0.999996	B;B;B|.	0.23591|.	0.024;0.088;0.042|.	B;B;B|.	0.25291|.	0.059;0.026;0.019|.	T|T	0.18840|0.18840	-1.0324|-1.0324	10|5	0.41790|.	T|.	0.15|.	-8.3713|-8.3713	9.703|9.703	0.40198|0.40198	0.071:0.0:0.7895:0.1395|0.071:0.0:0.7895:0.1395	.|.	664;715;714|.	F8W7K4;Q6P2H3;Q6P2H3-2|.	.;CEP85_HUMAN;.|.	Q|H	664;715|387	ENSP00000417002:E664Q;ENSP00000252992:E715Q|.	ENSP00000252992:E715Q|.	E|Q	+|+	1|3	0|2	CEP85|CEP85	26476225|26476225	0.460000|0.460000	0.25776|0.25776	0.999000|0.999000	0.59377|0.59377	0.322000|0.322000	0.28314|0.28314	3.652000|3.652000	0.54439|0.54439	1.506000|1.506000	0.48736|0.48736	0.561000|0.561000	0.74099|0.74099	GAG|CAG	CEP85	-	NULL	ENSG00000130695		0.468	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	HGNC	protein_coding	OTTHUMT00000009492.2	307	0.00	0	G	NM_022778		26603638	26603638	+1	no_errors	ENST00000252992	ensembl	human	known	69_37n	missense	134	43.51	104	SNP	0.176	C
CEP85	64793	genome.wustl.edu	37	1	26603638	26603638	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:26603638G>C	ENST00000252992.4	+	14	2274	c.2143G>C	c.(2143-2145)Gag>Cag	p.E715Q	SH3BGRL3_ENST00000270792.5_5'Flank|SH3BGRL3_ENST00000319041.6_5'Flank|CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.E664Q	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	715						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						ACAGCACCCAGAGACTCAGCT	0.468																																						dbGAP											0													192.0	186.0	188.0					1																	26603638		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.2143G>C	1.37:g.26603638G>C	ENSP00000252992:p.Glu715Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	NULL	p.E715Q	ENST00000252992.4	37	c.2143	CCDS277.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.50|10.50	1.366780|1.366780	0.24771|0.24771	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000451429;ENST00000252992|ENST00000453146	T;T|.	0.11277|.	2.79;2.79|.	5.92|5.92	3.99|3.99	0.46301|0.46301	.|.	0.314225|.	0.37437|.	N|.	0.002094|.	T|T	0.34454|0.34454	0.0898|0.0898	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999996|0.999996	B;B;B|.	0.23591|.	0.024;0.088;0.042|.	B;B;B|.	0.25291|.	0.059;0.026;0.019|.	T|T	0.18840|0.18840	-1.0324|-1.0324	10|5	0.41790|.	T|.	0.15|.	-8.3713|-8.3713	9.703|9.703	0.40198|0.40198	0.071:0.0:0.7895:0.1395|0.071:0.0:0.7895:0.1395	.|.	664;715;714|.	F8W7K4;Q6P2H3;Q6P2H3-2|.	.;CEP85_HUMAN;.|.	Q|H	664;715|387	ENSP00000417002:E664Q;ENSP00000252992:E715Q|.	ENSP00000252992:E715Q|.	E|Q	+|+	1|3	0|2	CEP85|CEP85	26476225|26476225	0.460000|0.460000	0.25776|0.25776	0.999000|0.999000	0.59377|0.59377	0.322000|0.322000	0.28314|0.28314	3.652000|3.652000	0.54439|0.54439	1.506000|1.506000	0.48736|0.48736	0.561000|0.561000	0.74099|0.74099	GAG|CAG	CEP85	-	NULL	ENSG00000130695		0.468	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	HGNC	protein_coding	OTTHUMT00000009492.2	465	0.00	0	G	NM_022778		26603638	26603638	+1	no_errors	ENST00000252992	ensembl	human	known	69_37n	missense	134	43.51	104	SNP	0.176	C
CEP350	9857	genome.wustl.edu	37	1	180034352	180034352	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:180034352G>A	ENST00000367607.3	+	27	5930	c.5512G>A	c.(5512-5514)Gaa>Aaa	p.E1838K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1838					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTCCAGCAGTGAAACTAGCAG	0.388																																						dbGAP											0													57.0	57.0	57.0					1																	180034352		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5512G>A	1.37:g.180034352G>A	ENSP00000356579:p.Glu1838Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.E1838K	ENST00000367607.3	37	c.5512	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.889153	0.97068	.	.	ENSG00000135837	ENST00000367607	T	0.58940	0.3	5.34	5.34	0.76211	.	0.000000	0.45361	D	0.000370	T	0.66906	0.2837	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.89917	1.0;0.983	D;P	0.83275	0.996;0.85	T	0.64262	-0.6449	9	.	.	.	.	19.0554	0.93062	0.0:0.0:1.0:0.0	.	1838;1838	E7EU22;Q5VT06	.;CE350_HUMAN	K	1838	ENSP00000356579:E1838K	.	E	+	1	0	CEP350	178300975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.441000	0.97557	2.494000	0.84150	0.557000	0.71058	GAA	CEP350	-	NULL	ENSG00000135837		0.388	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	58	0.00	0	G	NM_014810		180034352	180034352	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	44	50.00	44	SNP	1.000	A
CEP350	9857	genome.wustl.edu	37	1	180034352	180034352	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:180034352G>A	ENST00000367607.3	+	27	5930	c.5512G>A	c.(5512-5514)Gaa>Aaa	p.E1838K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1838					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTCCAGCAGTGAAACTAGCAG	0.388																																						dbGAP											0													57.0	57.0	57.0					1																	180034352		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5512G>A	1.37:g.180034352G>A	ENSP00000356579:p.Glu1838Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.E1838K	ENST00000367607.3	37	c.5512	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.889153	0.97068	.	.	ENSG00000135837	ENST00000367607	T	0.58940	0.3	5.34	5.34	0.76211	.	0.000000	0.45361	D	0.000370	T	0.66906	0.2837	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.89917	1.0;0.983	D;P	0.83275	0.996;0.85	T	0.64262	-0.6449	9	.	.	.	.	19.0554	0.93062	0.0:0.0:1.0:0.0	.	1838;1838	E7EU22;Q5VT06	.;CE350_HUMAN	K	1838	ENSP00000356579:E1838K	.	E	+	1	0	CEP350	178300975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.441000	0.97557	2.494000	0.84150	0.557000	0.71058	GAA	CEP350	-	NULL	ENSG00000135837		0.388	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	52	0.00	0	G	NM_014810		180034352	180034352	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	44	50.00	44	SNP	1.000	A
CERCAM	51148	genome.wustl.edu	37	9	131196437	131196437	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr9:131196437G>A	ENST00000372838.4	+	10	1658	c.1260G>A	c.(1258-1260)gaG>gaA	p.E420E	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Silent_p.E342E	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	420					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TGCGCTTTGAGAGCAACTTCA	0.602																																						dbGAP											0													65.0	64.0	64.0					9																	131196437		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1260G>A	9.37:g.131196437G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	pfam_Glyco_trans_25	p.E420	ENST00000372838.4	37	c.1260	CCDS6901.2	9																																																																																			CERCAM	-	pfam_Glyco_trans_25	ENSG00000167123		0.602	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	43	0.00	0	G	NM_016174		131196437	131196437	+1	no_errors	ENST00000372838	ensembl	human	known	69_37n	silent	23	30.30	10	SNP	1.000	A
CERCAM	51148	genome.wustl.edu	37	9	131196437	131196437	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr9:131196437G>A	ENST00000372838.4	+	10	1658	c.1260G>A	c.(1258-1260)gaG>gaA	p.E420E	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Silent_p.E342E	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	420					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TGCGCTTTGAGAGCAACTTCA	0.602																																						dbGAP											0													65.0	64.0	64.0					9																	131196437		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1260G>A	9.37:g.131196437G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	pfam_Glyco_trans_25	p.E420	ENST00000372838.4	37	c.1260	CCDS6901.2	9																																																																																			CERCAM	-	pfam_Glyco_trans_25	ENSG00000167123		0.602	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	23	0.00	0	G	NM_016174		131196437	131196437	+1	no_errors	ENST00000372838	ensembl	human	known	69_37n	silent	23	30.30	10	SNP	1.000	A
CHD5	26038	genome.wustl.edu	37	1	6214772	6214773	+	Frame_Shift_Ins	INS	-	-	G	rs141326175|rs370035599		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:6214772_6214773insG	ENST00000262450.3	-	5	791_792	c.692_693insC	c.(691-693)ccgfs	p.P231fs	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.P231L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGGCACCTGCGGGGGGCTGAC	0.683																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.693dupC	1.37:g.6214778_6214778dupG	ENSP00000262450:p.Pro231fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAP8|A8MQ44|D3DSH9|O60740	Frame_Shift_Ins	INS	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q232fs	ENST00000262450.3	37	c.693_692	CCDS57.1	1																																																																																			CHD5	-	NULL	ENSG00000116254		0.683	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	14	0.00	0	-	NM_015557		6214772	6214773	-1	no_errors	ENST00000262450	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.987:0.981	G
CHD5	26038	genome.wustl.edu	37	1	6214772	6214773	+	Frame_Shift_Ins	INS	-	-	G	rs141326175|rs370035599		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:6214772_6214773insG	ENST00000262450.3	-	5	791_792	c.692_693insC	c.(691-693)ccgfs	p.P231fs	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.P231L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGGCACCTGCGGGGGGCTGAC	0.683																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.693dupC	1.37:g.6214778_6214778dupG	ENSP00000262450:p.Pro231fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAP8|A8MQ44|D3DSH9|O60740	Frame_Shift_Ins	INS	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q232fs	ENST00000262450.3	37	c.693_692	CCDS57.1	1																																																																																			CHD5	-	NULL	ENSG00000116254		0.683	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	13	0.00	0	-	NM_015557		6214772	6214773	-1	no_errors	ENST00000262450	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.987:0.981	G
CHD7	55636	genome.wustl.edu	37	8	61654206	61654206	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr8:61654206A>G	ENST00000423902.2	+	2	694	c.215A>G	c.(214-216)tAt>tGt	p.Y72C	CHD7_ENST00000524602.1_Missense_Mutation_p.Y72C|CHD7_ENST00000525508.1_Missense_Mutation_p.Y72C	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	72			Y -> C (in patients with CHARGES; unknown pathological significance). {ECO:0000269|PubMed:22461308}.		adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTTGATCACTATAATCAGTAT	0.443																																						dbGAP											0													70.0	68.0	69.0					8																	61654206		2047	4197	6244	-	-	-	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.215A>G	8.37:g.61654206A>G	ENSP00000392028:p.Tyr72Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Y72C	ENST00000423902.2	37	c.215	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	A	14.18	2.457129	0.43634	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	T;T;T	0.49432	0.78;0.78;0.78	5.1	5.1	0.69264	.	0.000000	0.36338	N	0.002658	T	0.49558	0.1564	L	0.29908	0.895	0.48040	D	0.99957	D	0.69078	0.997	P	0.53912	0.737	T	0.54050	-0.8351	10	0.66056	D	0.02	-9.8879	14.8793	0.70519	1.0:0.0:0.0:0.0	.	72	Q9P2D1	CHD7_HUMAN	C	72	ENSP00000392028:Y72C;ENSP00000437061:Y72C;ENSP00000436027:Y72C	ENSP00000307304:Y72C	Y	+	2	0	CHD7	61816760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.687000	0.68219	1.928000	0.55862	0.477000	0.44152	TAT	CHD7	-	NULL	ENSG00000171316		0.443	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	60	0.00	0	A	XM_098762		61654206	61654206	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	missense	57	22.97	17	SNP	1.000	G
CHPF2	54480	genome.wustl.edu	37	7	150932659	150932659	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr7:150932659C>T	ENST00000035307.2	+	2	2302	c.789C>T	c.(787-789)ctC>ctT	p.L263L	CHPF2_ENST00000495645.1_Silent_p.L255L|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	263					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GACGCTGCCTCATTGACTCTC	0.582																																						dbGAP											0													71.0	69.0	70.0					7																	150932659		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.789C>T	7.37:g.150932659C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2DBD8|Q6P2I4|Q6UXD2	Silent	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.L263	ENST00000035307.2	37	c.789	CCDS34779.1	7																																																																																			CHPF2	-	pfam_Chond_GalNAc,pfam_Fringe-like	ENSG00000033100		0.582	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2	36	0.00	0	C	NM_019015		150932659	150932659	+1	no_errors	ENST00000035307	ensembl	human	known	69_37n	silent	6	66.67	12	SNP	1.000	T
CLRN2	645104	genome.wustl.edu	37	4	17528651	17528651	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:17528651G>A	ENST00000511148.2	+	3	747	c.645G>A	c.(643-645)gaG>gaA	p.E215E	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	215						integral component of membrane (GO:0016021)		p.E232D(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCCTCCCTGAGATTAAGACCA	0.502																																						dbGAP											1	Substitution - Missense(1)	lung(1)											119.0	124.0	122.0					4																	17528651		2136	4253	6389	-	-	-	SO:0001819	synonymous_variant	0				CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.645G>A	4.37:g.17528651G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_PMP22/EMP/MP20/Claudin	p.E215	ENST00000511148.2	37	c.645	CCDS47032.1	4																																																																																			CLRN2	-	NULL	ENSG00000249581		0.502	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN2	HGNC	protein_coding	OTTHUMT00000359990.2	204	0.00	0	G	NM_001079827		17528651	17528651	+1	no_errors	ENST00000511148	ensembl	human	known	69_37n	silent	126	33.68	64	SNP	0.997	A
CLRN2	645104	genome.wustl.edu	37	4	17528651	17528651	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:17528651G>A	ENST00000511148.2	+	3	747	c.645G>A	c.(643-645)gaG>gaA	p.E215E	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	215						integral component of membrane (GO:0016021)		p.E232D(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCCTCCCTGAGATTAAGACCA	0.502																																						dbGAP											1	Substitution - Missense(1)	lung(1)											119.0	124.0	122.0					4																	17528651		2136	4253	6389	-	-	-	SO:0001819	synonymous_variant	0				CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.645G>A	4.37:g.17528651G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_PMP22/EMP/MP20/Claudin	p.E215	ENST00000511148.2	37	c.645	CCDS47032.1	4																																																																																			CLRN2	-	NULL	ENSG00000249581		0.502	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN2	HGNC	protein_coding	OTTHUMT00000359990.2	87	0.00	0	G	NM_001079827		17528651	17528651	+1	no_errors	ENST00000511148	ensembl	human	known	69_37n	silent	126	33.68	64	SNP	0.997	A
CLSTN3	9746	genome.wustl.edu	37	12	7294698	7294698	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr12:7294698G>C	ENST00000266546.6	+	10	1953	c.1503G>C	c.(1501-1503)gaG>gaC	p.E501D	CLSTN3_ENST00000537408.1_Missense_Mutation_p.E513D	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	501					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AGAACAAAGAGAAGGAAAAGG	0.448											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													128.0	120.0	123.0					12																	7294698		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1503G>C	12.37:g.7294698G>C	ENSP00000266546:p.Glu501Asp	Somatic	640	WXS	Illumina GAIIx	Phase_IV	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E501D	ENST00000266546.6	37	c.1503	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192629	0.38707	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.22945	1.93;1.96	5.42	3.61	0.41365	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.245732	0.41396	D	0.000888	T	0.22704	0.0548	L	0.46157	1.445	0.39280	D	0.964547	B;B	0.18013	0.014;0.025	B;B	0.24006	0.019;0.05	T	0.05550	-1.0878	10	0.44086	T	0.13	-23.3746	9.0144	0.36161	0.1712:0.0:0.8288:0.0	.	513;501	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	D	501;513	ENSP00000266546:E501D;ENSP00000440679:E513D	ENSP00000266546:E501D	E	+	3	2	CLSTN3	7185965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.983000	0.40648	0.667000	0.31107	0.561000	0.74099	GAG	CLSTN3	-	superfamily_ConA-like_lec_gl	ENSG00000139182		0.448	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	401	0.00	0	G	NM_014718		7294698	7294698	+1	no_errors	ENST00000266546	ensembl	human	known	69_37n	missense	279	28.46	113	SNP	1.000	C
CLSTN3	9746	genome.wustl.edu	37	12	7294698	7294698	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr12:7294698G>C	ENST00000266546.6	+	10	1953	c.1503G>C	c.(1501-1503)gaG>gaC	p.E501D	CLSTN3_ENST00000537408.1_Missense_Mutation_p.E513D	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	501					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AGAACAAAGAGAAGGAAAAGG	0.448											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													128.0	120.0	123.0					12																	7294698		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1503G>C	12.37:g.7294698G>C	ENSP00000266546:p.Glu501Asp	Somatic	640	WXS	Illumina GAIIx	Phase_IV	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E501D	ENST00000266546.6	37	c.1503	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192629	0.38707	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.22945	1.93;1.96	5.42	3.61	0.41365	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.245732	0.41396	D	0.000888	T	0.22704	0.0548	L	0.46157	1.445	0.39280	D	0.964547	B;B	0.18013	0.014;0.025	B;B	0.24006	0.019;0.05	T	0.05550	-1.0878	10	0.44086	T	0.13	-23.3746	9.0144	0.36161	0.1712:0.0:0.8288:0.0	.	513;501	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	D	501;513	ENSP00000266546:E501D;ENSP00000440679:E513D	ENSP00000266546:E501D	E	+	3	2	CLSTN3	7185965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.983000	0.40648	0.667000	0.31107	0.561000	0.74099	GAG	CLSTN3	-	superfamily_ConA-like_lec_gl	ENSG00000139182		0.448	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	173	0.00	0	G	NM_014718		7294698	7294698	+1	no_errors	ENST00000266546	ensembl	human	known	69_37n	missense	279	28.46	113	SNP	1.000	C
COL22A1	169044	genome.wustl.edu	37	8	139606409	139606409	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr8:139606409G>A	ENST00000303045.6	-	63	4912	c.4466C>T	c.(4465-4467)cCg>cTg	p.P1489L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1469L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1489	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CATGTACGCCGGGGGCATCTG	0.592										HNSCC(7;0.00092)																												dbGAP											0													38.0	42.0	41.0					8																	139606409		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4466C>T	8.37:g.139606409G>A	ENSP00000303153:p.Pro1489Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.P1489L	ENST00000303045.6	37	c.4466	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545475	0.65198	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.89343	-2.5;-2.42	5.92	5.92	0.95590	.	0.130363	0.34777	N	0.003689	D	0.90642	0.7065	M	0.69823	2.125	0.80722	D	1	P;D	0.63046	0.94;0.992	P;P	0.48425	0.577;0.455	D	0.88241	0.2910	10	0.23891	T	0.37	.	19.3538	0.94402	0.0:0.0:1.0:0.0	.	1469;1489	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	L	1489;1469;1182	ENSP00000303153:P1489L;ENSP00000387655:P1469L	ENSP00000303153:P1489L	P	-	2	0	COL22A1	139675591	1.000000	0.71417	0.696000	0.30242	0.480000	0.33159	9.430000	0.97488	2.820000	0.97059	0.650000	0.86243	CCG	COL22A1	-	NULL	ENSG00000169436		0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	58	0.00	0	G	XM_291257		139606409	139606409	-1	no_errors	ENST00000303045	ensembl	human	known	69_37n	missense	34	58.54	48	SNP	0.998	A
COL22A1	169044	genome.wustl.edu	37	8	139606409	139606409	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr8:139606409G>A	ENST00000303045.6	-	63	4912	c.4466C>T	c.(4465-4467)cCg>cTg	p.P1489L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1469L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1489	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CATGTACGCCGGGGGCATCTG	0.592										HNSCC(7;0.00092)																												dbGAP											0													38.0	42.0	41.0					8																	139606409		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4466C>T	8.37:g.139606409G>A	ENSP00000303153:p.Pro1489Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.P1489L	ENST00000303045.6	37	c.4466	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545475	0.65198	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.89343	-2.5;-2.42	5.92	5.92	0.95590	.	0.130363	0.34777	N	0.003689	D	0.90642	0.7065	M	0.69823	2.125	0.80722	D	1	P;D	0.63046	0.94;0.992	P;P	0.48425	0.577;0.455	D	0.88241	0.2910	10	0.23891	T	0.37	.	19.3538	0.94402	0.0:0.0:1.0:0.0	.	1469;1489	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	L	1489;1469;1182	ENSP00000303153:P1489L;ENSP00000387655:P1469L	ENSP00000303153:P1489L	P	-	2	0	COL22A1	139675591	1.000000	0.71417	0.696000	0.30242	0.480000	0.33159	9.430000	0.97488	2.820000	0.97059	0.650000	0.86243	CCG	COL22A1	-	NULL	ENSG00000169436		0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	57	0.00	0	G	XM_291257		139606409	139606409	-1	no_errors	ENST00000303045	ensembl	human	known	69_37n	missense	34	58.54	48	SNP	0.998	A
COL3A1	1281	genome.wustl.edu	37	2	189875538	189875538	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:189875538G>C	ENST00000304636.3	+	50	4346	c.4176G>C	c.(4174-4176)ctG>ctC	p.L1392L	COL3A1_ENST00000317840.5_Silent_p.L1089L	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1392	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCCTGAAGCTGATGGGGTCAA	0.438																																						dbGAP											0													84.0	78.0	80.0					2																	189875538		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4176G>C	2.37:g.189875538G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.L1392	ENST00000304636.3	37	c.4176	CCDS2297.1	2																																																																																			COL3A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000168542		0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	147	0.00	0	G	NM_000090		189875538	189875538	+1	no_errors	ENST00000304636	ensembl	human	known	69_37n	silent	92	29.77	39	SNP	1.000	C
COL3A1	1281	genome.wustl.edu	37	2	189875538	189875538	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:189875538G>C	ENST00000304636.3	+	50	4346	c.4176G>C	c.(4174-4176)ctG>ctC	p.L1392L	COL3A1_ENST00000317840.5_Silent_p.L1089L	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1392	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCCTGAAGCTGATGGGGTCAA	0.438																																						dbGAP											0													84.0	78.0	80.0					2																	189875538		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4176G>C	2.37:g.189875538G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.L1392	ENST00000304636.3	37	c.4176	CCDS2297.1	2																																																																																			COL3A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000168542		0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	95	0.00	0	G	NM_000090		189875538	189875538	+1	no_errors	ENST00000304636	ensembl	human	known	69_37n	silent	92	29.77	39	SNP	1.000	C
COQ3	51805	genome.wustl.edu	37	6	99817588	99817588	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:99817588G>A	ENST00000254759.3	-	7	1022	c.998C>T	c.(997-999)tCc>tTc	p.S333F	COQ3_ENST00000369242.1_Missense_Mutation_p.S105F|COQ3_ENST00000369240.1_Missense_Mutation_p.S105F	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	333					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		CTGGACCCTGGATTTCACAGC	0.463																																						dbGAP											0													151.0	150.0	150.0					6																	99817588		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.998C>T	6.37:g.99817588G>A	ENSP00000254759:p.Ser333Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase	p.S333F	ENST00000254759.3	37	c.998	CCDS5042.1	6	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486086	0.63962	.	.	ENSG00000132423	ENST00000254759;ENST00000369242;ENST00000369240	T;T;T	0.33865	1.8;1.39;1.39	4.8	3.9	0.45041	.	0.536026	0.21351	N	0.075964	T	0.38983	0.1061	M	0.81802	2.56	0.37687	D	0.923691	P	0.44429	0.835	P	0.47430	0.547	T	0.50980	-0.8763	10	0.72032	D	0.01	-1.2145	15.1236	0.72465	0.0:0.1423:0.8577:0.0	.	333	Q9NZJ6	COQ3_HUMAN	F	333;105;105	ENSP00000254759:S333F;ENSP00000358245:S105F;ENSP00000358243:S105F	ENSP00000254759:S333F	S	-	2	0	COQ3	99924309	0.572000	0.26668	0.052000	0.19188	0.079000	0.17450	2.166000	0.42406	1.077000	0.40990	0.650000	0.86243	TCC	COQ3	-	NULL	ENSG00000132423		0.463	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	HGNC	protein_coding	OTTHUMT00000041602.1	180	0.00	0	G	NM_017421		99817588	99817588	-1	no_errors	ENST00000254759	ensembl	human	known	69_37n	missense	221	32.00	104	SNP	0.911	A
COQ3	51805	genome.wustl.edu	37	6	99817588	99817588	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:99817588G>A	ENST00000254759.3	-	7	1022	c.998C>T	c.(997-999)tCc>tTc	p.S333F	COQ3_ENST00000369242.1_Missense_Mutation_p.S105F|COQ3_ENST00000369240.1_Missense_Mutation_p.S105F	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	333					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		CTGGACCCTGGATTTCACAGC	0.463																																						dbGAP											0													151.0	150.0	150.0					6																	99817588		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.998C>T	6.37:g.99817588G>A	ENSP00000254759:p.Ser333Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase	p.S333F	ENST00000254759.3	37	c.998	CCDS5042.1	6	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486086	0.63962	.	.	ENSG00000132423	ENST00000254759;ENST00000369242;ENST00000369240	T;T;T	0.33865	1.8;1.39;1.39	4.8	3.9	0.45041	.	0.536026	0.21351	N	0.075964	T	0.38983	0.1061	M	0.81802	2.56	0.37687	D	0.923691	P	0.44429	0.835	P	0.47430	0.547	T	0.50980	-0.8763	10	0.72032	D	0.01	-1.2145	15.1236	0.72465	0.0:0.1423:0.8577:0.0	.	333	Q9NZJ6	COQ3_HUMAN	F	333;105;105	ENSP00000254759:S333F;ENSP00000358245:S105F;ENSP00000358243:S105F	ENSP00000254759:S333F	S	-	2	0	COQ3	99924309	0.572000	0.26668	0.052000	0.19188	0.079000	0.17450	2.166000	0.42406	1.077000	0.40990	0.650000	0.86243	TCC	COQ3	-	NULL	ENSG00000132423		0.463	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	HGNC	protein_coding	OTTHUMT00000041602.1	200	0.00	0	G	NM_017421		99817588	99817588	-1	no_errors	ENST00000254759	ensembl	human	known	69_37n	missense	221	32.00	104	SNP	0.911	A
CROCC	9696	genome.wustl.edu	37	1	17292567	17292567	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:17292567C>A	ENST00000375541.5	+	29	4718	c.4649C>A	c.(4648-4650)aCc>aAc	p.T1550N		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GACAGCGCAACCTCGAGGGCC	0.612																																						dbGAP											0													55.0	54.0	54.0					1																	17292567		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.4649C>A	1.37:g.17292567C>A	ENSP00000364691:p.Thr1550Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.T1550N	ENST00000375541.5	37	c.4649	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.318621	0.01320	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.77750	-1.12	4.13	-3.25	0.05079	.	.	.	.	.	T	0.55194	0.1905	N	0.08118	0	0.09310	N	1	B;B	0.16802	0.019;0.01	B;B	0.27262	0.054;0.078	T	0.47086	-0.9144	9	0.49607	T	0.09	.	5.548	0.17076	0.0:0.2272:0.4119:0.3609	.	853;1550	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	N	1550;1431	ENSP00000364691:T1550N	ENSP00000364691:T1550N	T	+	2	0	CROCC	17165154	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.065000	0.14466	-0.398000	0.07679	0.478000	0.44815	ACC	CROCC	-	superfamily_t-SNARE	ENSG00000058453		0.612	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	20	0.00	0	C	NM_014675		17292567	17292567	+1	no_errors	ENST00000375541	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.000	A
COX20	116228	genome.wustl.edu	37	1	245006446	245006446	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:245006446G>C	ENST00000411948.2	+	4	718	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q	HNRNPU-AS1_ENST00000475997.1_RNA|COX20_ENST00000366528.3_Missense_Mutation_p.E121Q|COX20_ENST00000498262.1_3'UTR|HNRNPU-AS1_ENST00000489705.1_RNA	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	109						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											CCTCGATCCTGAAAGAAAACA	0.353																																						dbGAP											0													56.0	69.0	64.0					1																	245006446		2197	4299	6496	-	-	-	SO:0001583	missense	0			BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"""Mitochondrial respiratory chain complex assembly factors"""	26970	protein-coding gene	gene with protein product		614698	"""family with sequence similarity 36, member A"", ""COX20 Cox2 chaperone homolog (S. cerevisiae)"""	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.325G>C	1.37:g.245006446G>C	ENSP00000406327:p.Glu109Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WV86	Missense_Mutation	SNP	pfam_Cox20/FAM36A,prints_FAM36A	p.E121Q	ENST00000411948.2	37	c.361	CCDS31080.1	1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738471	0.69304	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	5.63	2.63	0.31362	.	0.378995	0.33040	N	0.005356	T	0.40645	0.1125	M	0.64404	1.975	0.25768	N	0.984876	D	0.54397	0.966	B	0.43413	0.419	T	0.34477	-0.9827	9	0.59425	D	0.04	-13.8462	10.5187	0.44905	0.0675:0.3847:0.5479:0.0	.	109	Q5RI15	FA36A_HUMAN	Q	109;121	.	ENSP00000355486:E121Q	E	+	1	0	FAM36A	243073069	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.678000	0.37586	0.276000	0.22118	0.557000	0.71058	GAA	COX20	-	NULL	ENSG00000203667		0.353	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX20	HGNC	protein_coding	OTTHUMT00000097174.1	145	0.00	0	G	NM_198076		245006446	245006446	+1	no_errors	ENST00000366528	ensembl	human	known	69_37n	missense	123	23.12	37	SNP	1.000	C
COX20	116228	genome.wustl.edu	37	1	245006446	245006446	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:245006446G>C	ENST00000411948.2	+	4	718	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q	HNRNPU-AS1_ENST00000475997.1_RNA|COX20_ENST00000366528.3_Missense_Mutation_p.E121Q|COX20_ENST00000498262.1_3'UTR|HNRNPU-AS1_ENST00000489705.1_RNA	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	109						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											CCTCGATCCTGAAAGAAAACA	0.353																																						dbGAP											0													56.0	69.0	64.0					1																	245006446		2197	4299	6496	-	-	-	SO:0001583	missense	0			BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"""Mitochondrial respiratory chain complex assembly factors"""	26970	protein-coding gene	gene with protein product		614698	"""family with sequence similarity 36, member A"", ""COX20 Cox2 chaperone homolog (S. cerevisiae)"""	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.325G>C	1.37:g.245006446G>C	ENSP00000406327:p.Glu109Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WV86	Missense_Mutation	SNP	pfam_Cox20/FAM36A,prints_FAM36A	p.E121Q	ENST00000411948.2	37	c.361	CCDS31080.1	1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738471	0.69304	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	5.63	2.63	0.31362	.	0.378995	0.33040	N	0.005356	T	0.40645	0.1125	M	0.64404	1.975	0.25768	N	0.984876	D	0.54397	0.966	B	0.43413	0.419	T	0.34477	-0.9827	9	0.59425	D	0.04	-13.8462	10.5187	0.44905	0.0675:0.3847:0.5479:0.0	.	109	Q5RI15	FA36A_HUMAN	Q	109;121	.	ENSP00000355486:E121Q	E	+	1	0	FAM36A	243073069	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.678000	0.37586	0.276000	0.22118	0.557000	0.71058	GAA	COX20	-	NULL	ENSG00000203667		0.353	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX20	HGNC	protein_coding	OTTHUMT00000097174.1	197	0.00	0	G	NM_198076		245006446	245006446	+1	no_errors	ENST00000366528	ensembl	human	known	69_37n	missense	123	23.12	37	SNP	1.000	C
CSF2RA	1438	genome.wustl.edu	37	X	1407734	1407734	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:1407734G>A	ENST00000381524.3	+	6	612	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CSF2RA_ENST00000417535.2_Silent_p.P142P|CSF2RA_ENST00000432318.2_Silent_p.P142P|CSF2RA_ENST00000381529.3_Silent_p.P142P|CSF2RA_ENST00000381509.3_Silent_p.P142P|CSF2RA_ENST00000361536.3_Silent_p.P142P|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000355805.2_Silent_p.P142P|CSF2RA_ENST00000501036.2_Silent_p.P9P|CSF2RA_ENST00000355432.3_Silent_p.P142P|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Silent_p.P142P			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	142					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGAGGGGTCCGACGGCCCCCC	0.478																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	dbGAP											0													119.0	130.0	126.0					X																	1407734		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.426G>A	X.37:g.1407734G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.P142	ENST00000381524.3	37	c.426	CCDS35191.1	X																																																																																			CSF2RA	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	ENSG00000198223		0.478	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	496	0.20	1	G			1407734	1407734	+1	no_errors	ENST00000417535	ensembl	human	known	69_37n	silent	265	33.00	131	SNP	0.000	A
CSF2RA	1438	genome.wustl.edu	37	X	1407734	1407734	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:1407734G>A	ENST00000381524.3	+	6	612	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CSF2RA_ENST00000417535.2_Silent_p.P142P|CSF2RA_ENST00000432318.2_Silent_p.P142P|CSF2RA_ENST00000381529.3_Silent_p.P142P|CSF2RA_ENST00000381509.3_Silent_p.P142P|CSF2RA_ENST00000361536.3_Silent_p.P142P|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000355805.2_Silent_p.P142P|CSF2RA_ENST00000501036.2_Silent_p.P9P|CSF2RA_ENST00000355432.3_Silent_p.P142P|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Silent_p.P142P			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	142					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGAGGGGTCCGACGGCCCCCC	0.478																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	dbGAP											0													119.0	130.0	126.0					X																	1407734		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.426G>A	X.37:g.1407734G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.P142	ENST00000381524.3	37	c.426	CCDS35191.1	X																																																																																			CSF2RA	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	ENSG00000198223		0.478	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	131	0.00	0	G			1407734	1407734	+1	no_errors	ENST00000417535	ensembl	human	known	69_37n	silent	265	33.00	131	SNP	0.000	A
CUL7	9820	genome.wustl.edu	37	6	43010724	43010724	+	Splice_Site	SNP	T	T	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:43010724T>G	ENST00000265348.3	-	19	3548		c.e19-2		CUL7_ENST00000535468.1_Splice_Site|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATTGTTCACCTGGAAGGAAGG	0.527																																						dbGAP											0													56.0	55.0	56.0					6																	43010724		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3463-2A>C	6.37:g.43010724T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Splice_Site	SNP	-	e19-2	ENST00000265348.3	37	c.3715-2	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	T	22.3	4.272187	0.80469	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5487	0.76129	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL7	43118702	1.000000	0.71417	0.991000	0.47740	0.963000	0.63663	7.587000	0.82613	2.065000	0.61736	0.482000	0.46254	.	CUL7	-	-	ENSG00000044090		0.527	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	172	0.00	0	T	NM_014780	Intron	43010724	43010724	-1	no_errors	ENST00000535468	ensembl	human	known	69_37n	splice_site	70	28.57	28	SNP	1.000	G
CUL7	9820	genome.wustl.edu	37	6	43010724	43010724	+	Splice_Site	SNP	T	T	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:43010724T>G	ENST00000265348.3	-	19	3548		c.e19-2		CUL7_ENST00000535468.1_Splice_Site|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATTGTTCACCTGGAAGGAAGG	0.527																																						dbGAP											0													56.0	55.0	56.0					6																	43010724		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3463-2A>C	6.37:g.43010724T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Splice_Site	SNP	-	e19-2	ENST00000265348.3	37	c.3715-2	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	T	22.3	4.272187	0.80469	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5487	0.76129	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL7	43118702	1.000000	0.71417	0.991000	0.47740	0.963000	0.63663	7.587000	0.82613	2.065000	0.61736	0.482000	0.46254	.	CUL7	-	-	ENSG00000044090		0.527	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	92	0.00	0	T	NM_014780	Intron	43010724	43010724	-1	no_errors	ENST00000535468	ensembl	human	known	69_37n	splice_site	70	28.57	28	SNP	1.000	G
CYP4X1	260293	genome.wustl.edu	37	1	47501739	47501739	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:47501739T>G	ENST00000371901.3	+	6	921	c.671T>G	c.(670-672)tTt>tGt	p.F224C	CYP4X1_ENST00000538609.1_Missense_Mutation_p.F223C	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	224						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AAAATCATATTTCACCGCTTG	0.388																																						dbGAP											0													131.0	131.0	131.0					1																	47501739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.671T>G	1.37:g.47501739T>G	ENSP00000360968:p.Phe224Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F224C	ENST00000371901.3	37	c.671	CCDS544.1	1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.468923	0.26335	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.68331	-0.32;-0.32	5.91	-2.57	0.06248	.	0.736603	0.13622	N	0.374374	T	0.68320	0.2988	M	0.66297	2.02	0.09310	N	1	D;P	0.55800	0.973;0.653	P;B	0.61275	0.886;0.201	T	0.57353	-0.7826	10	0.38643	T	0.18	.	1.5912	0.02654	0.4705:0.2038:0.0993:0.2264	.	224;223	Q8N118;G3V1U1	CP4X1_HUMAN;.	C	223;224	ENSP00000445965:F223C;ENSP00000360968:F224C	ENSP00000360968:F224C	F	+	2	0	CYP4X1	47274326	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.129000	0.10515	-0.114000	0.11936	-0.468000	0.05107	TTT	CYP4X1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186377		0.388	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4X1	HGNC	protein_coding	OTTHUMT00000022017.1	279	0.00	0	T	NM_178033		47501739	47501739	+1	no_errors	ENST00000371901	ensembl	human	known	69_37n	missense	99	40.72	68	SNP	0.000	G
CYP4X1	260293	genome.wustl.edu	37	1	47501739	47501739	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:47501739T>G	ENST00000371901.3	+	6	921	c.671T>G	c.(670-672)tTt>tGt	p.F224C	CYP4X1_ENST00000538609.1_Missense_Mutation_p.F223C	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	224						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AAAATCATATTTCACCGCTTG	0.388																																						dbGAP											0													131.0	131.0	131.0					1																	47501739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.671T>G	1.37:g.47501739T>G	ENSP00000360968:p.Phe224Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F224C	ENST00000371901.3	37	c.671	CCDS544.1	1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.468923	0.26335	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.68331	-0.32;-0.32	5.91	-2.57	0.06248	.	0.736603	0.13622	N	0.374374	T	0.68320	0.2988	M	0.66297	2.02	0.09310	N	1	D;P	0.55800	0.973;0.653	P;B	0.61275	0.886;0.201	T	0.57353	-0.7826	10	0.38643	T	0.18	.	1.5912	0.02654	0.4705:0.2038:0.0993:0.2264	.	224;223	Q8N118;G3V1U1	CP4X1_HUMAN;.	C	223;224	ENSP00000445965:F223C;ENSP00000360968:F224C	ENSP00000360968:F224C	F	+	2	0	CYP4X1	47274326	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.129000	0.10515	-0.114000	0.11936	-0.468000	0.05107	TTT	CYP4X1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186377		0.388	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4X1	HGNC	protein_coding	OTTHUMT00000022017.1	168	0.00	0	T	NM_178033		47501739	47501739	+1	no_errors	ENST00000371901	ensembl	human	known	69_37n	missense	99	40.72	68	SNP	0.000	G
DDX11	1663	genome.wustl.edu	37	12	31244703	31244703	+	Silent	SNP	C	C	T	rs374684190		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr12:31244703C>T	ENST00000407793.2	+	10	1391	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	DDX11_ENST00000350437.4_Silent_p.A380A|DDX11_ENST00000228264.6_Silent_p.A354A|DDX11_ENST00000542838.1_Silent_p.A380A|DDX11_ENST00000545668.1_Silent_p.A380A|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	380	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.A380A(9)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTCGGCAGGCCGCGGGCATCC	0.677										Multiple Myeloma(12;0.14)																												dbGAP											9	Substitution - coding silent(9)	kidney(9)											37.0	36.0	36.0					12																	31244703		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1140C>T	12.37:g.31244703C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A380	ENST00000407793.2	37	c.1140	CCDS44856.1	12																																																																																			DDX11	-	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000013573		0.677	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	26	0.00	0	C	NM_030653		31244703	31244703	+1	no_errors	ENST00000407793	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	0.617	T
DENND1B	163486	genome.wustl.edu	37	1	197479960	197479960	+	IGR	SNP	G	G	C	rs373405187		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:197479960G>C								CRB1 (32375 upstream) : DENND1B (41424 downstream)																							CAAACCACTAGAGGAAACCCG	0.498																																						dbGAP											0													68.0	69.0	69.0					1																	197479960		2203	4299	6502	-	-	-	SO:0001628	intergenic_variant	0																															1.37:g.197479960G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S293C		37	c.878		1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506296	0.64410	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	T	0.39787	1.06	4.91	4.91	0.64330	.	0.765524	0.11121	U	0.597428	T	0.61590	0.2359	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.57860	-0.7738	10	0.56958	D	0.05	.	16.7597	0.85508	0.0:0.0:1.0:0.0	.	653	Q6P3S1-5	.	C	293;653;633	ENSP00000375839:S293C	ENSP00000375839:S293C	S	-	2	0	DENND1B	195746583	0.995000	0.38212	0.773000	0.31616	0.091000	0.18340	2.485000	0.45250	2.654000	0.90174	0.563000	0.77884	TCT	DENND1B	-	NULL	ENSG00000213047	0	0.498					DENND1B	HGNC			106	0.00	0	G			197479960	197479960	-1	no_start_codon	ENST00000391979	ensembl	human	putative	69_37n	missense	178	29.64	75	SNP	0.841	C
DENND1B	163486	genome.wustl.edu	37	1	197479960	197479960	+	IGR	SNP	G	G	C	rs373405187		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:197479960G>C								CRB1 (32375 upstream) : DENND1B (41424 downstream)																							CAAACCACTAGAGGAAACCCG	0.498																																						dbGAP											0													68.0	69.0	69.0					1																	197479960		2203	4299	6502	-	-	-	SO:0001628	intergenic_variant	0																															1.37:g.197479960G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S293C		37	c.878		1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506296	0.64410	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	T	0.39787	1.06	4.91	4.91	0.64330	.	0.765524	0.11121	U	0.597428	T	0.61590	0.2359	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.57860	-0.7738	10	0.56958	D	0.05	.	16.7597	0.85508	0.0:0.0:1.0:0.0	.	653	Q6P3S1-5	.	C	293;653;633	ENSP00000375839:S293C	ENSP00000375839:S293C	S	-	2	0	DENND1B	195746583	0.995000	0.38212	0.773000	0.31616	0.091000	0.18340	2.485000	0.45250	2.654000	0.90174	0.563000	0.77884	TCT	DENND1B	-	NULL	ENSG00000213047	0	0.498					DENND1B	HGNC			172	0.00	0	G			197479960	197479960	-1	no_start_codon	ENST00000391979	ensembl	human	putative	69_37n	missense	178	29.64	75	SNP	0.841	C
DEPDC1B	55789	genome.wustl.edu	37	5	59941334	59941334	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr5:59941334G>A	ENST00000265036.5	-	4	630	c.563C>T	c.(562-564)tCt>tTt	p.S188F	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.S161F|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.S188F	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	188					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TAATGTCATAGACTTCCATAT	0.383																																						dbGAP											0													67.0	68.0	68.0					5																	59941334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.563C>T	5.37:g.59941334G>A	ENSP00000265036:p.Ser188Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom	p.S188F	ENST00000265036.5	37	c.563	CCDS3977.1	5	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714772	0.89112	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.32515	2.17;1.86;1.45	5.86	5.86	0.93980	.	0.168289	0.56097	D	0.000039	T	0.54711	0.1875	M	0.66939	2.045	0.80722	D	1	D;P	0.65815	0.995;0.931	D;P	0.64042	0.921;0.746	T	0.43261	-0.9402	9	.	.	.	-23.3007	20.5632	0.99335	0.0:0.0:1.0:0.0	.	188;188	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	F	188;188;161	ENSP00000265036:S188F;ENSP00000389101:S188F;ENSP00000438320:S161F	.	S	-	2	0	DEPDC1B	59977091	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.415000	0.90241	2.937000	0.99478	0.650000	0.86243	TCT	DEPDC1B	-	NULL	ENSG00000035499		0.383	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC1B	HGNC	protein_coding	OTTHUMT00000214207.1	124	0.00	0	G	NM_018369		59941334	59941334	-1	no_errors	ENST00000265036	ensembl	human	known	69_37n	missense	103	15.57	19	SNP	1.000	A
DEPDC1B	55789	genome.wustl.edu	37	5	59941334	59941334	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr5:59941334G>A	ENST00000265036.5	-	4	630	c.563C>T	c.(562-564)tCt>tTt	p.S188F	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.S161F|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.S188F	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	188					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TAATGTCATAGACTTCCATAT	0.383																																						dbGAP											0													67.0	68.0	68.0					5																	59941334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.563C>T	5.37:g.59941334G>A	ENSP00000265036:p.Ser188Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom	p.S188F	ENST00000265036.5	37	c.563	CCDS3977.1	5	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714772	0.89112	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.32515	2.17;1.86;1.45	5.86	5.86	0.93980	.	0.168289	0.56097	D	0.000039	T	0.54711	0.1875	M	0.66939	2.045	0.80722	D	1	D;P	0.65815	0.995;0.931	D;P	0.64042	0.921;0.746	T	0.43261	-0.9402	9	.	.	.	-23.3007	20.5632	0.99335	0.0:0.0:1.0:0.0	.	188;188	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	F	188;188;161	ENSP00000265036:S188F;ENSP00000389101:S188F;ENSP00000438320:S161F	.	S	-	2	0	DEPDC1B	59977091	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.415000	0.90241	2.937000	0.99478	0.650000	0.86243	TCT	DEPDC1B	-	NULL	ENSG00000035499		0.383	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC1B	HGNC	protein_coding	OTTHUMT00000214207.1	77	0.00	0	G	NM_018369		59941334	59941334	-1	no_errors	ENST00000265036	ensembl	human	known	69_37n	missense	103	15.57	19	SNP	1.000	A
DNAH11	8701	genome.wustl.edu	37	7	21813441	21813441	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr7:21813441G>C	ENST00000409508.3	+	56	9191	c.9160G>C	c.(9160-9162)Gaa>Caa	p.E3054Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.E3061Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3061	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CACTGTAAATGAAATGAGTAC	0.368									Kartagener syndrome																													dbGAP											0													69.0	64.0	65.0					7																	21813441		1851	4106	5957	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9160G>C	7.37:g.21813441G>C	ENSP00000475939:p.Glu3054Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3061Q	ENST00000409508.3	37	c.9181		7	.	.	.	.	.	.	.	.	.	.	G	5.549	0.286254	0.10513	.	.	ENSG00000105877	ENST00000328843	T	0.47528	0.84	5.73	4.84	0.62591	Dynein heavy chain, P-loop containing D4 domain (1);	0.200818	0.50627	D	0.000110	T	0.35711	0.0941	.	.	.	0.31461	N	0.669537	B	0.29136	0.234	B	0.30251	0.113	T	0.40664	-0.9551	9	0.27785	T	0.31	.	10.5194	0.44910	0.0692:0.0:0.7964:0.1345	.	3061	Q96DT5	DYH11_HUMAN	Q	3061	ENSP00000330671:E3061Q	ENSP00000330671:E3061Q	E	+	1	0	DNAH11	21779966	1.000000	0.71417	0.795000	0.32087	0.229000	0.25112	3.617000	0.54181	1.395000	0.46643	0.655000	0.94253	GAA	DNAH11	-	NULL	ENSG00000105877		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	50	0.00	0	G	NM_003777		21813441	21813441	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	34	35.19	19	SNP	0.760	C
DNAH11	8701	genome.wustl.edu	37	7	21813441	21813441	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr7:21813441G>C	ENST00000409508.3	+	56	9191	c.9160G>C	c.(9160-9162)Gaa>Caa	p.E3054Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.E3061Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3061	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CACTGTAAATGAAATGAGTAC	0.368									Kartagener syndrome																													dbGAP											0													69.0	64.0	65.0					7																	21813441		1851	4106	5957	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9160G>C	7.37:g.21813441G>C	ENSP00000475939:p.Glu3054Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3061Q	ENST00000409508.3	37	c.9181		7	.	.	.	.	.	.	.	.	.	.	G	5.549	0.286254	0.10513	.	.	ENSG00000105877	ENST00000328843	T	0.47528	0.84	5.73	4.84	0.62591	Dynein heavy chain, P-loop containing D4 domain (1);	0.200818	0.50627	D	0.000110	T	0.35711	0.0941	.	.	.	0.31461	N	0.669537	B	0.29136	0.234	B	0.30251	0.113	T	0.40664	-0.9551	9	0.27785	T	0.31	.	10.5194	0.44910	0.0692:0.0:0.7964:0.1345	.	3061	Q96DT5	DYH11_HUMAN	Q	3061	ENSP00000330671:E3061Q	ENSP00000330671:E3061Q	E	+	1	0	DNAH11	21779966	1.000000	0.71417	0.795000	0.32087	0.229000	0.25112	3.617000	0.54181	1.395000	0.46643	0.655000	0.94253	GAA	DNAH11	-	NULL	ENSG00000105877		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	33	0.00	0	G	NM_003777		21813441	21813441	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	34	35.19	19	SNP	0.760	C
DNAH8	1769	genome.wustl.edu	37	6	38891783	38891783	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:38891783C>G	ENST00000359357.3	+	71	10410	c.10156C>G	c.(10156-10158)Ctg>Gtg	p.L3386V	DNAH8_ENST00000441566.1_Missense_Mutation_p.L3350V|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3603V|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3386					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGTGATATTCTGCTGTGCAC	0.433																																						dbGAP											0													239.0	219.0	226.0					6																	38891783		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10156C>G	6.37:g.38891783C>G	ENSP00000352312:p.Leu3386Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3386V	ENST00000359357.3	37	c.10156		6	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238546	0.58886	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.80909	-1.43;-1.43;-1.43	6.06	3.33	0.38152	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.64402	D	0.000001	D	0.88269	0.6391	M	0.92970	3.365	0.49915	D	0.99983	D	0.89917	1.0	D	0.79108	0.992	D	0.88870	0.3332	10	0.54805	T	0.06	.	10.2041	0.43103	0.0:0.6896:0.0:0.3104	.	3386	Q96JB1	DYH8_HUMAN	V	3591;3591;3386;3350	ENSP00000333363:L3591V;ENSP00000352312:L3386V;ENSP00000402294:L3350V	ENSP00000333363:L3591V	L	+	1	2	DNAH8	38999761	0.458000	0.25760	0.996000	0.52242	0.982000	0.71751	0.938000	0.28965	0.892000	0.36259	0.655000	0.94253	CTG	DNAH8	-	NULL	ENSG00000124721		0.433	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	336	0.00	0	C	NM_001206927		38891783	38891783	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	missense	270	29.87	115	SNP	0.702	G
DNAH8	1769	genome.wustl.edu	37	6	38891783	38891783	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:38891783C>G	ENST00000359357.3	+	71	10410	c.10156C>G	c.(10156-10158)Ctg>Gtg	p.L3386V	DNAH8_ENST00000441566.1_Missense_Mutation_p.L3350V|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3603V|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3386					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGTGATATTCTGCTGTGCAC	0.433																																						dbGAP											0													239.0	219.0	226.0					6																	38891783		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10156C>G	6.37:g.38891783C>G	ENSP00000352312:p.Leu3386Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3386V	ENST00000359357.3	37	c.10156		6	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238546	0.58886	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.80909	-1.43;-1.43;-1.43	6.06	3.33	0.38152	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.64402	D	0.000001	D	0.88269	0.6391	M	0.92970	3.365	0.49915	D	0.99983	D	0.89917	1.0	D	0.79108	0.992	D	0.88870	0.3332	10	0.54805	T	0.06	.	10.2041	0.43103	0.0:0.6896:0.0:0.3104	.	3386	Q96JB1	DYH8_HUMAN	V	3591;3591;3386;3350	ENSP00000333363:L3591V;ENSP00000352312:L3386V;ENSP00000402294:L3350V	ENSP00000333363:L3591V	L	+	1	2	DNAH8	38999761	0.458000	0.25760	0.996000	0.52242	0.982000	0.71751	0.938000	0.28965	0.892000	0.36259	0.655000	0.94253	CTG	DNAH8	-	NULL	ENSG00000124721		0.433	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	189	0.00	0	C	NM_001206927		38891783	38891783	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	missense	270	29.87	115	SNP	0.702	G
DOCK4	9732	genome.wustl.edu	37	7	111575671	111575671	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr7:111575671C>T	ENST00000437633.1	-	12	1246	c.990G>A	c.(988-990)gaG>gaA	p.E330E	DOCK4_ENST00000428084.1_Silent_p.E330E|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	330					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCACTCACTCTCTGTGTTAC	0.413																																						dbGAP											0													241.0	237.0	239.0					7																	111575671		2051	4207	6258	-	-	-	SO:0001819	synonymous_variant	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.990G>A	7.37:g.111575671C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK,superfamily_SH3_domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.R318K	ENST00000437633.1	37	c.953	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	C	9.641	1.138859	0.21123	.	.	ENSG00000128512	ENST00000445943	.	.	.	5.78	4.9	0.64082	.	.	.	.	.	T	0.58991	0.2161	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55438	-0.8141	4	.	.	.	.	8.7808	0.34789	0.0:0.7894:0.0:0.2106	.	.	.	.	K	318	.	.	R	-	2	0	DOCK4	111362907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.709000	0.37909	2.734000	0.93682	0.563000	0.77884	AGA	DOCK4	-	NULL	ENSG00000128512		0.413	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	305	0.00	0	C	NM_014705		111575671	111575671	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445943	ensembl	human	novel	69_37n	missense	144	15.29	26	SNP	1.000	T
DOCK4	9732	genome.wustl.edu	37	7	111575671	111575671	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr7:111575671C>T	ENST00000437633.1	-	12	1246	c.990G>A	c.(988-990)gaG>gaA	p.E330E	DOCK4_ENST00000428084.1_Silent_p.E330E|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	330					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCACTCACTCTCTGTGTTAC	0.413																																						dbGAP											0													241.0	237.0	239.0					7																	111575671		2051	4207	6258	-	-	-	SO:0001819	synonymous_variant	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.990G>A	7.37:g.111575671C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK,superfamily_SH3_domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.R318K	ENST00000437633.1	37	c.953	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	C	9.641	1.138859	0.21123	.	.	ENSG00000128512	ENST00000445943	.	.	.	5.78	4.9	0.64082	.	.	.	.	.	T	0.58991	0.2161	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55438	-0.8141	4	.	.	.	.	8.7808	0.34789	0.0:0.7894:0.0:0.2106	.	.	.	.	K	318	.	.	R	-	2	0	DOCK4	111362907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.709000	0.37909	2.734000	0.93682	0.563000	0.77884	AGA	DOCK4	-	NULL	ENSG00000128512		0.413	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	165	0.60	1	C	NM_014705		111575671	111575671	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445943	ensembl	human	novel	69_37n	missense	144	15.29	26	SNP	1.000	T
DPEP3	64180	genome.wustl.edu	37	16	68014005	68014005	+	Silent	SNP	G	G	A	rs531603108	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr16:68014005G>A	ENST00000268793.4	-	1	727	c.354C>T	c.(352-354)ctC>ctT	p.L118L	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	93					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		ACCCGTCCACGAGTGGGAAAC	0.637													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16569	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													46.0	44.0	44.0					16																	68014005		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.354C>T	16.37:g.68014005G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ48|Q6PEZ5|Q6UXE4	Silent	SNP	pfam_Peptidase_M19	p.L118	ENST00000268793.4	37	c.354	CCDS10856.1	16																																																																																			DPEP3	-	pfam_Peptidase_M19	ENSG00000141096		0.637	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	70	0.00	0	G	NM_022357		68014005	68014005	-1	no_errors	ENST00000268793	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	0.029	A
DPEP3	64180	genome.wustl.edu	37	16	68014005	68014005	+	Silent	SNP	G	G	A	rs531603108	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr16:68014005G>A	ENST00000268793.4	-	1	727	c.354C>T	c.(352-354)ctC>ctT	p.L118L	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	93					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		ACCCGTCCACGAGTGGGAAAC	0.637													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16569	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													46.0	44.0	44.0					16																	68014005		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.354C>T	16.37:g.68014005G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ48|Q6PEZ5|Q6UXE4	Silent	SNP	pfam_Peptidase_M19	p.L118	ENST00000268793.4	37	c.354	CCDS10856.1	16																																																																																			DPEP3	-	pfam_Peptidase_M19	ENSG00000141096		0.637	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	15	0.00	0	G	NM_022357		68014005	68014005	-1	no_errors	ENST00000268793	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	0.029	A
DTX1	1840	genome.wustl.edu	37	12	113515419	113515419	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr12:113515419C>T	ENST00000257600.3	+	2	953	c.450C>T	c.(448-450)ctC>ctT	p.L150L		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	150	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TCTGCTACCTCATCTACTTCA	0.637																																						dbGAP											0													82.0	60.0	68.0					12																	113515419		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.450C>T	12.37:g.113515419C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60630|Q9BS04	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.L150	ENST00000257600.3	37	c.450	CCDS9164.1	12																																																																																			DTX1	-	pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom	ENSG00000135144		0.637	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	31	0.00	0	C			113515419	113515419	+1	no_errors	ENST00000257600	ensembl	human	known	69_37n	silent	9	41.18	7	SNP	1.000	T
DTX1	1840	genome.wustl.edu	37	12	113515419	113515419	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr12:113515419C>T	ENST00000257600.3	+	2	953	c.450C>T	c.(448-450)ctC>ctT	p.L150L		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	150	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TCTGCTACCTCATCTACTTCA	0.637																																						dbGAP											0													82.0	60.0	68.0					12																	113515419		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.450C>T	12.37:g.113515419C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60630|Q9BS04	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.L150	ENST00000257600.3	37	c.450	CCDS9164.1	12																																																																																			DTX1	-	pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom	ENSG00000135144		0.637	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	11	0.00	0	C			113515419	113515419	+1	no_errors	ENST00000257600	ensembl	human	known	69_37n	silent	9	41.18	7	SNP	1.000	T
DUSP18	150290	genome.wustl.edu	37	22	31059955	31059955	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr22:31059955G>A	ENST00000334679.3	-	2	541	c.36C>T	c.(34-36)ttC>ttT	p.F12F	DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Silent_p.F12F|DUSP18_ENST00000403268.1_Silent_p.F12F|DUSP18_ENST00000404885.1_Silent_p.F12F	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	12					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						AGGGCTGCCGGAACTGAACTG	0.567																																						dbGAP											0													46.0	44.0	45.0					22																	31059955		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.36C>T	22.37:g.31059955G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPA4	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP	p.F12	ENST00000334679.3	37	c.36	CCDS13883.1	22																																																																																			DUSP18	-	NULL	ENSG00000167065		0.567	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP18	HGNC	protein_coding	OTTHUMT00000321400.1	132	0.00	0	G			31059955	31059955	-1	no_errors	ENST00000334679	ensembl	human	known	69_37n	silent	68	24.44	22	SNP	0.017	A
DUSP18	150290	genome.wustl.edu	37	22	31059955	31059955	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr22:31059955G>A	ENST00000334679.3	-	2	541	c.36C>T	c.(34-36)ttC>ttT	p.F12F	DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Silent_p.F12F|DUSP18_ENST00000403268.1_Silent_p.F12F|DUSP18_ENST00000404885.1_Silent_p.F12F	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	12					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						AGGGCTGCCGGAACTGAACTG	0.567																																						dbGAP											0													46.0	44.0	45.0					22																	31059955		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.36C>T	22.37:g.31059955G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPA4	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP	p.F12	ENST00000334679.3	37	c.36	CCDS13883.1	22																																																																																			DUSP18	-	NULL	ENSG00000167065		0.567	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP18	HGNC	protein_coding	OTTHUMT00000321400.1	54	0.00	0	G			31059955	31059955	-1	no_errors	ENST00000334679	ensembl	human	known	69_37n	silent	68	24.44	22	SNP	0.017	A
DZANK1	55184	genome.wustl.edu	37	20	18429657	18429657	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr20:18429657C>T	ENST00000358866.6	-	6	622	c.600G>A	c.(598-600)atG>atA	p.M200I	DZANK1_ENST00000357236.4_Missense_Mutation_p.M86I|DZANK1_ENST00000262547.5_Missense_Mutation_p.M200I|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Missense_Mutation_p.M202I			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	200							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TTTGAATTCTCATTATCTCCG	0.368																																						dbGAP											0													140.0	132.0	135.0					20																	18429657		1867	4104	5971	-	-	-	SO:0001583	missense	0			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.600G>A	20.37:g.18429657C>T	ENSP00000351734:p.Met200Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.M200I	ENST00000358866.6	37	c.600	CCDS46582.1	20	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150251	0.37923	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.0	2.0	0.26442	.	0.852017	0.11074	N	0.602533	T	0.38241	0.1033	L	0.60455	1.87	0.30101	N	0.807448	B;B;B	0.32573	0.179;0.274;0.376	B;B;B	0.33960	0.057;0.122;0.173	T	0.37079	-0.9721	10	0.41790	T	0.15	-16.8458	8.0631	0.30644	0.0:0.7291:0.0:0.2709	.	219;86;200	B7Z631;Q9NVP4-4;Q9NVP4	.;.;DZAN1_HUMAN	I	27;200;202;26;26;86	ENSP00000366857:M27I;ENSP00000262547:M200I;ENSP00000328866:M202I;ENSP00000349774:M86I	ENSP00000262547:M200I	M	-	3	0	C20orf12	18377657	0.997000	0.39634	0.914000	0.36105	0.893000	0.52053	0.579000	0.23788	0.622000	0.30249	0.650000	0.86243	ATG	DZANK1	-	NULL	ENSG00000089091		0.368	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1	206	0.00	0	C	NM_001099407		18429657	18429657	-1	no_errors	ENST00000262547	ensembl	human	known	69_37n	missense	236	27.83	91	SNP	0.880	T
DZANK1	55184	genome.wustl.edu	37	20	18429657	18429657	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr20:18429657C>T	ENST00000358866.6	-	6	622	c.600G>A	c.(598-600)atG>atA	p.M200I	DZANK1_ENST00000357236.4_Missense_Mutation_p.M86I|DZANK1_ENST00000262547.5_Missense_Mutation_p.M200I|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Missense_Mutation_p.M202I			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	200							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TTTGAATTCTCATTATCTCCG	0.368																																						dbGAP											0													140.0	132.0	135.0					20																	18429657		1867	4104	5971	-	-	-	SO:0001583	missense	0			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.600G>A	20.37:g.18429657C>T	ENSP00000351734:p.Met200Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.M200I	ENST00000358866.6	37	c.600	CCDS46582.1	20	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150251	0.37923	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.0	2.0	0.26442	.	0.852017	0.11074	N	0.602533	T	0.38241	0.1033	L	0.60455	1.87	0.30101	N	0.807448	B;B;B	0.32573	0.179;0.274;0.376	B;B;B	0.33960	0.057;0.122;0.173	T	0.37079	-0.9721	10	0.41790	T	0.15	-16.8458	8.0631	0.30644	0.0:0.7291:0.0:0.2709	.	219;86;200	B7Z631;Q9NVP4-4;Q9NVP4	.;.;DZAN1_HUMAN	I	27;200;202;26;26;86	ENSP00000366857:M27I;ENSP00000262547:M200I;ENSP00000328866:M202I;ENSP00000349774:M86I	ENSP00000262547:M200I	M	-	3	0	C20orf12	18377657	0.997000	0.39634	0.914000	0.36105	0.893000	0.52053	0.579000	0.23788	0.622000	0.30249	0.650000	0.86243	ATG	DZANK1	-	NULL	ENSG00000089091		0.368	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1	214	0.00	0	C	NM_001099407		18429657	18429657	-1	no_errors	ENST00000262547	ensembl	human	known	69_37n	missense	236	27.83	91	SNP	0.880	T
ECHDC1	55862	genome.wustl.edu	37	6	127648195	127648195	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:127648195G>C	ENST00000531967.1	-	3	836	c.333C>G	c.(331-333)ttC>ttG	p.F111L	ECHDC1_ENST00000474289.2_Missense_Mutation_p.F105L|ECHDC1_ENST00000528402.1_Missense_Mutation_p.F30L|ECHDC1_ENST00000454591.2_Missense_Mutation_p.F30L|ECHDC1_ENST00000368291.2_Missense_Mutation_p.F105L|ECHDC1_ENST00000309620.9_Missense_Mutation_p.F105L|ECHDC1_ENST00000368289.2_Missense_Mutation_p.F105L|ECHDC1_ENST00000454859.3_Missense_Mutation_p.F105L|ECHDC1_ENST00000430841.2_Missense_Mutation_p.F105L	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	111						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		ATCCTGAAGAGAAAGTATTTT	0.383																																						dbGAP											0													123.0	115.0	117.0					6																	127648195		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.333C>G	6.37:g.127648195G>C	ENSP00000436585:p.Phe111Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	pfam_Crotonase_core	p.F111L	ENST00000531967.1	37	c.333	CCDS47471.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.954441|3.954441	0.73902|0.73902	.|.	.|.	ENSG00000093144|ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000368293;ENST00000368290;ENST00000474289;ENST00000528402;ENST00000454591;ENST00000368291;ENST00000309620;ENST00000430841;ENST00000368289;ENST00000525745;ENST00000534442;ENST00000531582|ENST00000436638	D;D;D;D;D;D;D;D;D;D;D;D|.	0.90324|.	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65|.	5.29|5.29	1.54|1.54	0.23209|0.23209	Crotonase, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71160|0.71160	0.3307|0.3307	M|M	0.92691|0.92691	3.335|3.335	0.49582|0.49582	D|D	0.999807|0.999807	B;D;D|.	0.89917|.	0.099;1.0;1.0|.	B;D;D|.	0.91635|.	0.067;0.999;0.999|.	T|T	0.73681|0.73681	-0.3906|-0.3906	10|5	0.87932|.	D|.	0|.	-7.7844|-7.7844	8.9737|8.9737	0.35921|0.35921	0.4409:0.0:0.5591:0.0|0.4409:0.0:0.5591:0.0	.|.	30;105;111|.	E9PR31;Q5TEF6;Q9NTX5|.	.;.;ECHD1_HUMAN|.	L|C	105;111;37;105;105;30;30;105;105;105;105;105;105;105|79	ENSP00000401751:F105L;ENSP00000436585:F111L;ENSP00000434908:F105L;ENSP00000436109:F30L;ENSP00000404866:F30L;ENSP00000357274:F105L;ENSP00000311115:F105L;ENSP00000402492:F105L;ENSP00000357272:F105L;ENSP00000435068:F105L;ENSP00000435502:F105L;ENSP00000434143:F105L|.	ENSP00000311115:F105L|.	F|S	-|-	3|2	2|0	ECHDC1|ECHDC1	127689888|127689888	1.000000|1.000000	0.71417|0.71417	0.911000|0.911000	0.35937|0.35937	0.956000|0.956000	0.61745|0.61745	1.496000|1.496000	0.35638|0.35638	0.098000|0.098000	0.17522|0.17522	0.561000|0.561000	0.74099|0.74099	TTC|TCT	ECHDC1	-	pfam_Crotonase_core	ENSG00000093144		0.383	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECHDC1	HGNC	protein_coding	OTTHUMT00000042131.2	216	0.00	0	G			127648195	127648195	-1	no_errors	ENST00000531967	ensembl	human	known	69_37n	missense	218	28.66	88	SNP	0.997	C
ECHDC1	55862	genome.wustl.edu	37	6	127648195	127648195	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:127648195G>C	ENST00000531967.1	-	3	836	c.333C>G	c.(331-333)ttC>ttG	p.F111L	ECHDC1_ENST00000474289.2_Missense_Mutation_p.F105L|ECHDC1_ENST00000528402.1_Missense_Mutation_p.F30L|ECHDC1_ENST00000454591.2_Missense_Mutation_p.F30L|ECHDC1_ENST00000368291.2_Missense_Mutation_p.F105L|ECHDC1_ENST00000309620.9_Missense_Mutation_p.F105L|ECHDC1_ENST00000368289.2_Missense_Mutation_p.F105L|ECHDC1_ENST00000454859.3_Missense_Mutation_p.F105L|ECHDC1_ENST00000430841.2_Missense_Mutation_p.F105L	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	111						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		ATCCTGAAGAGAAAGTATTTT	0.383																																						dbGAP											0													123.0	115.0	117.0					6																	127648195		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.333C>G	6.37:g.127648195G>C	ENSP00000436585:p.Phe111Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	pfam_Crotonase_core	p.F111L	ENST00000531967.1	37	c.333	CCDS47471.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.954441|3.954441	0.73902|0.73902	.|.	.|.	ENSG00000093144|ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000368293;ENST00000368290;ENST00000474289;ENST00000528402;ENST00000454591;ENST00000368291;ENST00000309620;ENST00000430841;ENST00000368289;ENST00000525745;ENST00000534442;ENST00000531582|ENST00000436638	D;D;D;D;D;D;D;D;D;D;D;D|.	0.90324|.	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65|.	5.29|5.29	1.54|1.54	0.23209|0.23209	Crotonase, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71160|0.71160	0.3307|0.3307	M|M	0.92691|0.92691	3.335|3.335	0.49582|0.49582	D|D	0.999807|0.999807	B;D;D|.	0.89917|.	0.099;1.0;1.0|.	B;D;D|.	0.91635|.	0.067;0.999;0.999|.	T|T	0.73681|0.73681	-0.3906|-0.3906	10|5	0.87932|.	D|.	0|.	-7.7844|-7.7844	8.9737|8.9737	0.35921|0.35921	0.4409:0.0:0.5591:0.0|0.4409:0.0:0.5591:0.0	.|.	30;105;111|.	E9PR31;Q5TEF6;Q9NTX5|.	.;.;ECHD1_HUMAN|.	L|C	105;111;37;105;105;30;30;105;105;105;105;105;105;105|79	ENSP00000401751:F105L;ENSP00000436585:F111L;ENSP00000434908:F105L;ENSP00000436109:F30L;ENSP00000404866:F30L;ENSP00000357274:F105L;ENSP00000311115:F105L;ENSP00000402492:F105L;ENSP00000357272:F105L;ENSP00000435068:F105L;ENSP00000435502:F105L;ENSP00000434143:F105L|.	ENSP00000311115:F105L|.	F|S	-|-	3|2	2|0	ECHDC1|ECHDC1	127689888|127689888	1.000000|1.000000	0.71417|0.71417	0.911000|0.911000	0.35937|0.35937	0.956000|0.956000	0.61745|0.61745	1.496000|1.496000	0.35638|0.35638	0.098000|0.098000	0.17522|0.17522	0.561000|0.561000	0.74099|0.74099	TTC|TCT	ECHDC1	-	pfam_Crotonase_core	ENSG00000093144		0.383	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECHDC1	HGNC	protein_coding	OTTHUMT00000042131.2	193	0.00	0	G			127648195	127648195	-1	no_errors	ENST00000531967	ensembl	human	known	69_37n	missense	218	28.66	88	SNP	0.997	C
EFTUD2	9343	genome.wustl.edu	37	17	42929858	42929858	+	Silent	SNP	G	G	A	rs200422220		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:42929858G>A	ENST00000426333.2	-	26	2931	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	EFTUD2_ENST00000592576.1_Silent_p.I868I|EFTUD2_ENST00000591382.1_Silent_p.I878I|EFTUD2_ENST00000402521.3_Silent_p.I843I	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	878					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CAAAAGAGTCGATGGCCGGGA	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16666	0.0		0.0	False		,,,				2504	0.0				Ovarian(10;65 485 10258 29980 30707)	dbGAP											0													98.0	84.0	88.0					17																	42929858		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2634C>T	17.37:g.42929858G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.I878	ENST00000426333.2	37	c.2634	CCDS11489.1	17																																																																																			EFTUD2	-	pfam_Transl_elong_EFG/EF2_C,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_C	ENSG00000108883		0.542	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	78	0.00	0	G	NM_004247		42929858	42929858	-1	no_errors	ENST00000426333	ensembl	human	known	69_37n	silent	41	46.75	36	SNP	0.806	A
EFTUD2	9343	genome.wustl.edu	37	17	42929858	42929858	+	Silent	SNP	G	G	A	rs200422220		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:42929858G>A	ENST00000426333.2	-	26	2931	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	EFTUD2_ENST00000592576.1_Silent_p.I868I|EFTUD2_ENST00000591382.1_Silent_p.I878I|EFTUD2_ENST00000402521.3_Silent_p.I843I	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	878					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CAAAAGAGTCGATGGCCGGGA	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16666	0.0		0.0	False		,,,				2504	0.0				Ovarian(10;65 485 10258 29980 30707)	dbGAP											0													98.0	84.0	88.0					17																	42929858		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2634C>T	17.37:g.42929858G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.I878	ENST00000426333.2	37	c.2634	CCDS11489.1	17																																																																																			EFTUD2	-	pfam_Transl_elong_EFG/EF2_C,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_C	ENSG00000108883		0.542	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	66	0.00	0	G	NM_004247		42929858	42929858	-1	no_errors	ENST00000426333	ensembl	human	known	69_37n	silent	41	46.75	36	SNP	0.806	A
EGR3	1960	genome.wustl.edu	37	8	22548021	22548022	+	Frame_Shift_Ins	INS	-	-	G	rs138509871	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr8:22548021_22548022insG	ENST00000317216.2	-	2	1485_1486	c.1128_1129insC	c.(1126-1131)cccgtgfs	p.V377fs	EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000522910.1_Frame_Shift_Ins_p.V339fs	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	377					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GCCAGCGACACGGGGGGCGCCG	0.678																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.1129dupC	8.37:g.22548027_22548027dupG	ENSP00000318057:p.Val377fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Frame_Shift_Ins	INS	pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V376fs	ENST00000317216.2	37	c.1129_1128	CCDS6033.1	8																																																																																			EGR3	-	NULL	ENSG00000179388		0.678	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR3	HGNC	protein_coding	OTTHUMT00000215098.1	27	0.00	0	-	NM_004430		22548021	22548022	-1	no_errors	ENST00000317216	ensembl	human	known	69_37n	frame_shift_ins	13	18.75	3	INS	0.964:0.017	G
EGR3	1960	genome.wustl.edu	37	8	22548021	22548022	+	Frame_Shift_Ins	INS	-	-	G	rs138509871	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr8:22548021_22548022insG	ENST00000317216.2	-	2	1485_1486	c.1128_1129insC	c.(1126-1131)cccgtgfs	p.V377fs	EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000522910.1_Frame_Shift_Ins_p.V339fs	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	377					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GCCAGCGACACGGGGGGCGCCG	0.678																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.1129dupC	8.37:g.22548027_22548027dupG	ENSP00000318057:p.Val377fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Frame_Shift_Ins	INS	pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V376fs	ENST00000317216.2	37	c.1129_1128	CCDS6033.1	8																																																																																			EGR3	-	NULL	ENSG00000179388		0.678	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR3	HGNC	protein_coding	OTTHUMT00000215098.1	26	0.00	0	-	NM_004430		22548021	22548022	-1	no_errors	ENST00000317216	ensembl	human	known	69_37n	frame_shift_ins	13	18.75	3	INS	0.964:0.017	G
ELF1	1997	genome.wustl.edu	37	13	41515065	41515065	+	Missense_Mutation	SNP	C	C	G	rs201784200		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr13:41515065C>G	ENST00000239882.3	-	8	1562	c.1248G>C	c.(1246-1248)caG>caC	p.Q416H	ELF1_ENST00000442101.1_Missense_Mutation_p.Q392H|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	416					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		ACCTAATACTCTGAACGGAAG	0.408																																						dbGAP											0													91.0	85.0	87.0					13																	41515065		2203	4300	6503	-	-	-	SO:0001583	missense	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1248G>C	13.37:g.41515065C>G	ENSP00000239882:p.Gln416His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.Q416H	ENST00000239882.3	37	c.1248	CCDS9374.1	13	.	.	.	.	.	.	.	.	.	.	C	13.00	2.104950	0.37145	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.48836	0.8;0.8	5.53	1.86	0.25419	.	0.380247	0.28343	N	0.015698	T	0.46698	0.1406	L	0.32530	0.975	0.30429	N	0.777322	P;D	0.54397	0.929;0.966	P;P	0.54706	0.691;0.759	T	0.50127	-0.8864	10	0.52906	T	0.07	.	10.3162	0.43738	0.0:0.6731:0.0:0.3268	.	392;416	E9PDQ9;P32519	.;ELF1_HUMAN	H	392;158;416	ENSP00000405580:Q392H;ENSP00000239882:Q416H	ENSP00000239882:Q416H	Q	-	3	2	ELF1	40413065	0.911000	0.30947	0.953000	0.39169	0.607000	0.37147	-0.071000	0.11505	0.094000	0.17404	0.563000	0.77884	CAG	ELF1	-	NULL	ENSG00000120690		0.408	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	HGNC	protein_coding	OTTHUMT00000044654.3	122	0.00	0	C	NM_172373		41515065	41515065	-1	no_errors	ENST00000239882	ensembl	human	known	69_37n	missense	119	33.52	60	SNP	0.995	G
ELF1	1997	genome.wustl.edu	37	13	41515065	41515065	+	Missense_Mutation	SNP	C	C	G	rs201784200		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr13:41515065C>G	ENST00000239882.3	-	8	1562	c.1248G>C	c.(1246-1248)caG>caC	p.Q416H	ELF1_ENST00000442101.1_Missense_Mutation_p.Q392H|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	416					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		ACCTAATACTCTGAACGGAAG	0.408																																						dbGAP											0													91.0	85.0	87.0					13																	41515065		2203	4300	6503	-	-	-	SO:0001583	missense	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1248G>C	13.37:g.41515065C>G	ENSP00000239882:p.Gln416His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.Q416H	ENST00000239882.3	37	c.1248	CCDS9374.1	13	.	.	.	.	.	.	.	.	.	.	C	13.00	2.104950	0.37145	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.48836	0.8;0.8	5.53	1.86	0.25419	.	0.380247	0.28343	N	0.015698	T	0.46698	0.1406	L	0.32530	0.975	0.30429	N	0.777322	P;D	0.54397	0.929;0.966	P;P	0.54706	0.691;0.759	T	0.50127	-0.8864	10	0.52906	T	0.07	.	10.3162	0.43738	0.0:0.6731:0.0:0.3268	.	392;416	E9PDQ9;P32519	.;ELF1_HUMAN	H	392;158;416	ENSP00000405580:Q392H;ENSP00000239882:Q416H	ENSP00000239882:Q416H	Q	-	3	2	ELF1	40413065	0.911000	0.30947	0.953000	0.39169	0.607000	0.37147	-0.071000	0.11505	0.094000	0.17404	0.563000	0.77884	CAG	ELF1	-	NULL	ENSG00000120690		0.408	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	HGNC	protein_coding	OTTHUMT00000044654.3	134	0.00	0	C	NM_172373		41515065	41515065	-1	no_errors	ENST00000239882	ensembl	human	known	69_37n	missense	119	33.52	60	SNP	0.995	G
ELF1	1997	genome.wustl.edu	37	13	41515219	41515219	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr13:41515219G>C	ENST00000239882.3	-	8	1408	c.1094C>G	c.(1093-1095)tCa>tGa	p.S365*	ELF1_ENST00000442101.1_Nonsense_Mutation_p.S341*|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	365					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAAACTTCTGATGGTTGTGC	0.498																																						dbGAP											0													176.0	157.0	164.0					13																	41515219		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1094C>G	13.37:g.41515219G>C	ENSP00000239882:p.Ser365*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Nonsense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.S365*	ENST00000239882.3	37	c.1094	CCDS9374.1	13	.	.	.	.	.	.	.	.	.	.	G	38	7.157031	0.98103	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	.	.	.	5.56	5.56	0.83823	.	0.589948	0.17208	N	0.182845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.9052	0.97004	0.0:0.0:1.0:0.0	.	.	.	.	X	341;107;365	.	ENSP00000239882:S365X	S	-	2	0	ELF1	40413219	1.000000	0.71417	0.978000	0.43139	0.628000	0.37860	7.828000	0.86729	2.776000	0.95493	0.655000	0.94253	TCA	ELF1	-	NULL	ENSG00000120690		0.498	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	HGNC	protein_coding	OTTHUMT00000044654.3	203	0.00	0	G	NM_172373		41515219	41515219	-1	no_errors	ENST00000239882	ensembl	human	known	69_37n	nonsense	239	23.15	72	SNP	1.000	C
ELF1	1997	genome.wustl.edu	37	13	41515219	41515219	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr13:41515219G>C	ENST00000239882.3	-	8	1408	c.1094C>G	c.(1093-1095)tCa>tGa	p.S365*	ELF1_ENST00000442101.1_Nonsense_Mutation_p.S341*|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	365					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAAACTTCTGATGGTTGTGC	0.498																																						dbGAP											0													176.0	157.0	164.0					13																	41515219		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1094C>G	13.37:g.41515219G>C	ENSP00000239882:p.Ser365*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Nonsense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.S365*	ENST00000239882.3	37	c.1094	CCDS9374.1	13	.	.	.	.	.	.	.	.	.	.	G	38	7.157031	0.98103	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	.	.	.	5.56	5.56	0.83823	.	0.589948	0.17208	N	0.182845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.9052	0.97004	0.0:0.0:1.0:0.0	.	.	.	.	X	341;107;365	.	ENSP00000239882:S365X	S	-	2	0	ELF1	40413219	1.000000	0.71417	0.978000	0.43139	0.628000	0.37860	7.828000	0.86729	2.776000	0.95493	0.655000	0.94253	TCA	ELF1	-	NULL	ENSG00000120690		0.498	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	HGNC	protein_coding	OTTHUMT00000044654.3	230	0.00	0	G	NM_172373		41515219	41515219	-1	no_errors	ENST00000239882	ensembl	human	known	69_37n	nonsense	239	23.15	72	SNP	1.000	C
ELK3	2004	genome.wustl.edu	37	12	96641028	96641029	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr12:96641028_96641029insC	ENST00000228741.3	+	3	844_845	c.518_519insC	c.(517-522)agccccfs	p.SP173fs	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	173					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V176fs*14(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCCGAAGACAGCCCCCCCGTGG	0.579																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.525dupC	12.37:g.96641035_96641035dupC	ENSP00000228741:p.Ser173fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6S6|Q6FG57|Q6GU29|Q9UD17	Frame_Shift_Ins	INS	pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.V176fs	ENST00000228741.3	37	c.518_519	CCDS9060.1	12																																																																																			ELK3	-	NULL	ENSG00000111145		0.579	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK3	HGNC	protein_coding	OTTHUMT00000408694.1	46	0.00	0	-	NM_005230		96641028	96641029	+1	no_errors	ENST00000228741	ensembl	human	known	69_37n	frame_shift_ins	58	10.77	7	INS	0.017:0.019	C
EP300	2033	genome.wustl.edu	37	22	41573738	41573738	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr22:41573738C>T	ENST00000263253.7	+	31	7242	c.6023C>T	c.(6022-6024)tCt>tTt	p.S2008F	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2008	Interaction with HTLV-1 Tax.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAACTACAGTCTGGGATGCCA	0.597			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													dbGAP		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													65.0	60.0	62.0					22																	41573738		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6023C>T	22.37:g.41573738C>T	ENSP00000263253:p.Ser2008Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S2008F	ENST00000263253.7	37	c.6023	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239833	0.22711	.	.	ENSG00000100393	ENST00000263253	D	0.83755	-1.76	5.2	2.98	0.34508	Nuclear receptor coactivator, CREB-bp-like, interlocking (1);	0.484331	0.17151	N	0.185051	T	0.70996	0.3288	N	0.14661	0.345	0.28898	N	0.893472	B	0.32425	0.371	B	0.35470	0.203	T	0.68930	-0.5279	10	0.66056	D	0.02	-0.0098	11.2052	0.48765	0.1334:0.609:0.2576:0.0	.	2008	Q09472	EP300_HUMAN	F	2008	ENSP00000263253:S2008F	ENSP00000263253:S2008F	S	+	2	0	EP300	39903684	0.786000	0.28738	0.286000	0.24833	0.777000	0.43975	2.998000	0.49465	1.174000	0.42811	-0.305000	0.09177	TCT	EP300	-	pfam_Nuc_rcpt_coact_CREBbp	ENSG00000100393		0.597	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	168	0.59	1	C	NM_001429		41573738	41573738	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	missense	137	27.13	51	SNP	0.684	T
EP300	2033	genome.wustl.edu	37	22	41573738	41573738	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr22:41573738C>T	ENST00000263253.7	+	31	7242	c.6023C>T	c.(6022-6024)tCt>tTt	p.S2008F	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2008	Interaction with HTLV-1 Tax.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAACTACAGTCTGGGATGCCA	0.597			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													dbGAP		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													65.0	60.0	62.0					22																	41573738		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6023C>T	22.37:g.41573738C>T	ENSP00000263253:p.Ser2008Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S2008F	ENST00000263253.7	37	c.6023	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239833	0.22711	.	.	ENSG00000100393	ENST00000263253	D	0.83755	-1.76	5.2	2.98	0.34508	Nuclear receptor coactivator, CREB-bp-like, interlocking (1);	0.484331	0.17151	N	0.185051	T	0.70996	0.3288	N	0.14661	0.345	0.28898	N	0.893472	B	0.32425	0.371	B	0.35470	0.203	T	0.68930	-0.5279	10	0.66056	D	0.02	-0.0098	11.2052	0.48765	0.1334:0.609:0.2576:0.0	.	2008	Q09472	EP300_HUMAN	F	2008	ENSP00000263253:S2008F	ENSP00000263253:S2008F	S	+	2	0	EP300	39903684	0.786000	0.28738	0.286000	0.24833	0.777000	0.43975	2.998000	0.49465	1.174000	0.42811	-0.305000	0.09177	TCT	EP300	-	pfam_Nuc_rcpt_coact_CREBbp	ENSG00000100393		0.597	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	119	0.00	0	C	NM_001429		41573738	41573738	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	missense	137	27.13	51	SNP	0.684	T
ERCC6L	54821	genome.wustl.edu	37	X	71426743	71426743	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:71426743C>G	ENST00000334463.3	-	2	2009	c.1874G>C	c.(1873-1875)aGa>aCa	p.R625T	ERCC6L_ENST00000373657.1_Missense_Mutation_p.R502T|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	625					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AAAGAGCTCTCTTAATTCTTG	0.358																																						dbGAP											0													66.0	64.0	65.0					X																	71426743		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1874G>C	X.37:g.71426743C>G	ENSP00000334675:p.Arg625Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R625T	ENST00000334463.3	37	c.1874	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310443	0.23821	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.24908	1.83;1.83	5.46	4.58	0.56647	.	.	.	.	.	T	0.27697	0.0681	M	0.65677	2.01	0.29669	N	0.842608	P	0.38922	0.651	B	0.38428	0.273	T	0.28586	-1.0039	9	0.56958	D	0.05	-11.2188	7.2109	0.25933	0.0:0.7919:0.0:0.2081	.	625	Q2NKX8	ERC6L_HUMAN	T	502;625	ENSP00000362761:R502T;ENSP00000334675:R625T	ENSP00000334675:R625T	R	-	2	0	ERCC6L	71343468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.796000	0.55507	1.049000	0.40321	0.594000	0.82650	AGA	ERCC6L	-	NULL	ENSG00000186871		0.358	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	184	0.00	0	C	NM_017669		71426743	71426743	-1	no_errors	ENST00000334463	ensembl	human	known	69_37n	missense	246	25.45	84	SNP	1.000	G
ERCC6L	54821	genome.wustl.edu	37	X	71426743	71426743	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:71426743C>G	ENST00000334463.3	-	2	2009	c.1874G>C	c.(1873-1875)aGa>aCa	p.R625T	ERCC6L_ENST00000373657.1_Missense_Mutation_p.R502T|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	625					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AAAGAGCTCTCTTAATTCTTG	0.358																																						dbGAP											0													66.0	64.0	65.0					X																	71426743		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1874G>C	X.37:g.71426743C>G	ENSP00000334675:p.Arg625Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R625T	ENST00000334463.3	37	c.1874	CCDS35329.1	X	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310443	0.23821	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.24908	1.83;1.83	5.46	4.58	0.56647	.	.	.	.	.	T	0.27697	0.0681	M	0.65677	2.01	0.29669	N	0.842608	P	0.38922	0.651	B	0.38428	0.273	T	0.28586	-1.0039	9	0.56958	D	0.05	-11.2188	7.2109	0.25933	0.0:0.7919:0.0:0.2081	.	625	Q2NKX8	ERC6L_HUMAN	T	502;625	ENSP00000362761:R502T;ENSP00000334675:R625T	ENSP00000334675:R625T	R	-	2	0	ERCC6L	71343468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.796000	0.55507	1.049000	0.40321	0.594000	0.82650	AGA	ERCC6L	-	NULL	ENSG00000186871		0.358	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	505	0.00	0	C	NM_017669		71426743	71426743	-1	no_errors	ENST00000334463	ensembl	human	known	69_37n	missense	246	25.45	84	SNP	1.000	G
FADS2	9415	genome.wustl.edu	37	11	61583860	61583860	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr11:61583860C>T	ENST00000257261.6	+	1	133	c.103C>T	c.(103-105)Cat>Tat	p.H35Y	FADS2_ENST00000574708.1_Intron|FADS2_ENST00000522056.1_5'Flank|FADS2_ENST00000517839.1_5'Flank|FADS2_ENST00000522639.1_5'Flank|FADS1_ENST00000542506.1_5'Flank|MIR1908_ENST00000410394.1_RNA|FADS1_ENST00000541683.1_Intron|FADS1_ENST00000433932.1_5'Flank|FADS1_ENST00000350997.7_Intron	NM_001281501.1|NM_001281502.1	NP_001268430.1|NP_001268431.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	0	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CCCGCCTTTTCATCCCGCATC	0.607																																						dbGAP											0													44.0	46.0	46.0					11																	61583860		875	1990	2865	-	-	-	SO:0001583	missense	0			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000257261.6:c.103C>T	11.37:g.61583860C>T	ENSP00000257261:p.His35Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase	p.H35Y	ENST00000257261.6	37	c.103		11	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752200	0.31046	.	.	ENSG00000134824	ENST00000257261	T	0.24151	1.87	3.81	1.91	0.25777	.	.	.	.	.	T	0.19685	0.0473	.	.	.	0.18873	N	0.999986	B	0.22003	0.063	B	0.21917	0.037	T	0.25117	-1.0141	8	0.87932	D	0	.	6.6826	0.23129	0.0:0.765:0.0:0.235	.	35	O95864-2	.	Y	35	ENSP00000257261:H35Y	ENSP00000257261:H35Y	H	+	1	0	FADS2	61340436	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.785000	0.26830	0.360000	0.24265	-0.258000	0.10820	CAT	FADS2	-	pirsf_Fatty_acid/sphinglp_desaturase	ENSG00000134824		0.607	FADS2-001	KNOWN	basic	protein_coding	FADS2	HGNC	protein_coding	OTTHUMT00000375581.1	30	0.00	0	C	NM_004265		61583860	61583860	+1	no_errors	ENST00000257261	ensembl	human	known	69_37n	missense	8	55.56	10	SNP	0.001	T
FADS2	9415	genome.wustl.edu	37	11	61583860	61583860	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr11:61583860C>T	ENST00000257261.6	+	1	133	c.103C>T	c.(103-105)Cat>Tat	p.H35Y	FADS2_ENST00000574708.1_Intron|FADS2_ENST00000522056.1_5'Flank|FADS2_ENST00000517839.1_5'Flank|FADS2_ENST00000522639.1_5'Flank|FADS1_ENST00000542506.1_5'Flank|MIR1908_ENST00000410394.1_RNA|FADS1_ENST00000541683.1_Intron|FADS1_ENST00000433932.1_5'Flank|FADS1_ENST00000350997.7_Intron	NM_001281501.1|NM_001281502.1	NP_001268430.1|NP_001268431.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	0	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CCCGCCTTTTCATCCCGCATC	0.607																																						dbGAP											0													44.0	46.0	46.0					11																	61583860		875	1990	2865	-	-	-	SO:0001583	missense	0			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000257261.6:c.103C>T	11.37:g.61583860C>T	ENSP00000257261:p.His35Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase	p.H35Y	ENST00000257261.6	37	c.103		11	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752200	0.31046	.	.	ENSG00000134824	ENST00000257261	T	0.24151	1.87	3.81	1.91	0.25777	.	.	.	.	.	T	0.19685	0.0473	.	.	.	0.18873	N	0.999986	B	0.22003	0.063	B	0.21917	0.037	T	0.25117	-1.0141	8	0.87932	D	0	.	6.6826	0.23129	0.0:0.765:0.0:0.235	.	35	O95864-2	.	Y	35	ENSP00000257261:H35Y	ENSP00000257261:H35Y	H	+	1	0	FADS2	61340436	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.785000	0.26830	0.360000	0.24265	-0.258000	0.10820	CAT	FADS2	-	pirsf_Fatty_acid/sphinglp_desaturase	ENSG00000134824		0.607	FADS2-001	KNOWN	basic	protein_coding	FADS2	HGNC	protein_coding	OTTHUMT00000375581.1	18	0.00	0	C	NM_004265		61583860	61583860	+1	no_errors	ENST00000257261	ensembl	human	known	69_37n	missense	8	55.56	10	SNP	0.001	T
FAM114A1	92689	genome.wustl.edu	37	4	38879718	38879718	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:38879718G>A	ENST00000358869.2	+	3	195	c.19G>A	c.(19-21)Gac>Aac	p.D7N	FAM114A1_ENST00000515037.1_Intron	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	7						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGATGCTGGTGACACCTTAGC	0.393																																						dbGAP											0													83.0	80.0	81.0					4																	38879718		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.19G>A	4.37:g.38879718G>A	ENSP00000351740:p.Asp7Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	pfam_DUF719	p.D7N	ENST00000358869.2	37	c.19	CCDS3447.1	4	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225514	0.58668	.	.	ENSG00000197712	ENST00000510213;ENST00000358869	T;T	0.29655	1.56;2.77	4.7	3.85	0.44370	.	0.090684	0.48286	D	0.000197	T	0.27169	0.0666	L	0.52364	1.645	0.30661	N	0.754427	B	0.21225	0.053	B	0.17722	0.019	T	0.18461	-1.0336	10	0.52906	T	0.07	-25.7733	10.4409	0.44464	0.0967:0.0:0.9033:0.0	.	7	Q8IWE2	NXP20_HUMAN	N	7	ENSP00000422965:D7N;ENSP00000351740:D7N	ENSP00000351740:D7N	D	+	1	0	FAM114A1	38556113	0.998000	0.40836	0.509000	0.27700	0.861000	0.49209	2.665000	0.46791	2.593000	0.87608	0.561000	0.74099	GAC	FAM114A1	-	NULL	ENSG00000197712		0.393	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A1	HGNC	protein_coding	OTTHUMT00000250436.1	91	0.00	0	G	NM_138389		38879718	38879718	+1	no_errors	ENST00000358869	ensembl	human	known	69_37n	missense	65	32.29	31	SNP	0.663	A
FAM114A1	92689	genome.wustl.edu	37	4	38879718	38879718	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:38879718G>A	ENST00000358869.2	+	3	195	c.19G>A	c.(19-21)Gac>Aac	p.D7N	FAM114A1_ENST00000515037.1_Intron	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	7						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGATGCTGGTGACACCTTAGC	0.393																																						dbGAP											0													83.0	80.0	81.0					4																	38879718		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.19G>A	4.37:g.38879718G>A	ENSP00000351740:p.Asp7Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	pfam_DUF719	p.D7N	ENST00000358869.2	37	c.19	CCDS3447.1	4	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225514	0.58668	.	.	ENSG00000197712	ENST00000510213;ENST00000358869	T;T	0.29655	1.56;2.77	4.7	3.85	0.44370	.	0.090684	0.48286	D	0.000197	T	0.27169	0.0666	L	0.52364	1.645	0.30661	N	0.754427	B	0.21225	0.053	B	0.17722	0.019	T	0.18461	-1.0336	10	0.52906	T	0.07	-25.7733	10.4409	0.44464	0.0967:0.0:0.9033:0.0	.	7	Q8IWE2	NXP20_HUMAN	N	7	ENSP00000422965:D7N;ENSP00000351740:D7N	ENSP00000351740:D7N	D	+	1	0	FAM114A1	38556113	0.998000	0.40836	0.509000	0.27700	0.861000	0.49209	2.665000	0.46791	2.593000	0.87608	0.561000	0.74099	GAC	FAM114A1	-	NULL	ENSG00000197712		0.393	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A1	HGNC	protein_coding	OTTHUMT00000250436.1	60	0.00	0	G	NM_138389		38879718	38879718	+1	no_errors	ENST00000358869	ensembl	human	known	69_37n	missense	65	32.29	31	SNP	0.663	A
FAM160B1	57700	genome.wustl.edu	37	10	116593004	116593004	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr10:116593004C>T	ENST00000369248.4	+	3	472	c.137C>T	c.(136-138)cCa>cTa	p.P46L	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P46L|FAM160B1_ENST00000369246.1_Missense_Mutation_p.P46L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	46										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GATAAAGCCCCAGTGACCGAT	0.343																																						dbGAP											0													55.0	54.0	54.0					10																	116593004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.137C>T	10.37:g.116593004C>T	ENSP00000358251:p.Pro46Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.P46L	ENST00000369248.4	37	c.137	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.103091	0.94245	.	.	ENSG00000151553	ENST00000369248;ENST00000369250;ENST00000369246	T;T	0.16743	2.34;2.32	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.963;0.999	P;D	0.65987	0.867;0.94	T	0.31420	-0.9944	10	0.62326	D	0.03	-17.4009	20.3593	0.98849	0.0:1.0:0.0:0.0	.	46;46	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	L	46	ENSP00000358251:P46L;ENSP00000358253:P46L	ENSP00000358249:P46L	P	+	2	0	FAM160B1	116582994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.699000	0.84547	2.822000	0.97130	0.557000	0.71058	CCA	FAM160B1	-	NULL	ENSG00000151553		0.343	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	HGNC	protein_coding	OTTHUMT00000050499.1	108	0.00	0	C	XM_049351		116593004	116593004	+1	no_errors	ENST00000369248	ensembl	human	known	69_37n	missense	104	27.78	40	SNP	1.000	T
FAM160B1	57700	genome.wustl.edu	37	10	116593004	116593004	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr10:116593004C>T	ENST00000369248.4	+	3	472	c.137C>T	c.(136-138)cCa>cTa	p.P46L	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P46L|FAM160B1_ENST00000369246.1_Missense_Mutation_p.P46L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	46										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GATAAAGCCCCAGTGACCGAT	0.343																																						dbGAP											0													55.0	54.0	54.0					10																	116593004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.137C>T	10.37:g.116593004C>T	ENSP00000358251:p.Pro46Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.P46L	ENST00000369248.4	37	c.137	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.103091	0.94245	.	.	ENSG00000151553	ENST00000369248;ENST00000369250;ENST00000369246	T;T	0.16743	2.34;2.32	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.963;0.999	P;D	0.65987	0.867;0.94	T	0.31420	-0.9944	10	0.62326	D	0.03	-17.4009	20.3593	0.98849	0.0:1.0:0.0:0.0	.	46;46	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	L	46	ENSP00000358251:P46L;ENSP00000358253:P46L	ENSP00000358249:P46L	P	+	2	0	FAM160B1	116582994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.699000	0.84547	2.822000	0.97130	0.557000	0.71058	CCA	FAM160B1	-	NULL	ENSG00000151553		0.343	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	HGNC	protein_coding	OTTHUMT00000050499.1	179	0.00	0	C	XM_049351		116593004	116593004	+1	no_errors	ENST00000369248	ensembl	human	known	69_37n	missense	104	27.78	40	SNP	1.000	T
FAM46C	54855	genome.wustl.edu	37	1	118166486	118166486	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:118166486C>T	ENST00000369448.3	+	2	1243	c.996C>T	c.(994-996)ctC>ctT	p.L332L		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	332										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CTCTGAACCTCATCTCCCTCC	0.562			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												dbGAP		Rec	yes		1	1p12	54855	"""family with sequence similarity 46, member C"""		L	0													193.0	147.0	163.0					1																	118166486		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.996C>T	1.37:g.118166486C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMG2|Q8NE25|Q9NXK0	Silent	SNP	pfam_DUF1693	p.L332	ENST00000369448.3	37	c.996	CCDS896.1	1																																																																																			FAM46C	-	pfam_DUF1693	ENSG00000183508		0.562	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46C	HGNC	protein_coding	OTTHUMT00000038424.1	200	0.00	0	C	NM_017709		118166486	118166486	+1	no_errors	ENST00000369448	ensembl	human	known	69_37n	silent	71	43.20	54	SNP	1.000	T
FAM46C	54855	genome.wustl.edu	37	1	118166486	118166486	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:118166486C>T	ENST00000369448.3	+	2	1243	c.996C>T	c.(994-996)ctC>ctT	p.L332L		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	332										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CTCTGAACCTCATCTCCCTCC	0.562			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												dbGAP		Rec	yes		1	1p12	54855	"""family with sequence similarity 46, member C"""		L	0													193.0	147.0	163.0					1																	118166486		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.996C>T	1.37:g.118166486C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMG2|Q8NE25|Q9NXK0	Silent	SNP	pfam_DUF1693	p.L332	ENST00000369448.3	37	c.996	CCDS896.1	1																																																																																			FAM46C	-	pfam_DUF1693	ENSG00000183508		0.562	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46C	HGNC	protein_coding	OTTHUMT00000038424.1	93	0.00	0	C	NM_017709		118166486	118166486	+1	no_errors	ENST00000369448	ensembl	human	known	69_37n	silent	71	43.20	54	SNP	1.000	T
FAM47B	170062	genome.wustl.edu	37	X	34961041	34961041	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:34961041G>A	ENST00000329357.5	+	1	129	c.93G>A	c.(91-93)gcG>gcA	p.A31A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	31										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGTACTTCGCGAAGCGCAAGC	0.627																																						dbGAP											0													32.0	28.0	30.0					X																	34961041		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.93G>A	X.37:g.34961041G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQN5|Q6PIG3	Silent	SNP	NULL	p.A31	ENST00000329357.5	37	c.93	CCDS14236.1	X																																																																																			FAM47B	-	NULL	ENSG00000189132		0.627	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	83	0.00	0	G	NM_152631		34961041	34961041	+1	no_errors	ENST00000329357	ensembl	human	known	69_37n	silent	71	37.17	42	SNP	0.000	A
FAM47B	170062	genome.wustl.edu	37	X	34961041	34961041	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:34961041G>A	ENST00000329357.5	+	1	129	c.93G>A	c.(91-93)gcG>gcA	p.A31A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	31										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGTACTTCGCGAAGCGCAAGC	0.627																																						dbGAP											0													32.0	28.0	30.0					X																	34961041		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.93G>A	X.37:g.34961041G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQN5|Q6PIG3	Silent	SNP	NULL	p.A31	ENST00000329357.5	37	c.93	CCDS14236.1	X																																																																																			FAM47B	-	NULL	ENSG00000189132		0.627	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	77	0.00	0	G	NM_152631		34961041	34961041	+1	no_errors	ENST00000329357	ensembl	human	known	69_37n	silent	71	37.17	42	SNP	0.000	A
FAM83B	222584	genome.wustl.edu	37	6	54806423	54806423	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:54806423C>T	ENST00000306858.7	+	5	2770	c.2654C>T	c.(2653-2655)tCt>tTt	p.S885F	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	885										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGAGATGCCTCTGCCCCAAGA	0.448																																						dbGAP											0													74.0	71.0	72.0					6																	54806423		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2654C>T	6.37:g.54806423C>T	ENSP00000304078:p.Ser885Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.S885F	ENST00000306858.7	37	c.2654	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070094	0.55539	.	.	ENSG00000168143	ENST00000306858	T	0.34472	1.36	5.63	4.73	0.59995	.	0.160839	0.44097	D	0.000482	T	0.51295	0.1666	M	0.71581	2.175	0.51482	D	0.99992	D	0.89917	1.0	D	0.87578	0.998	T	0.59710	-0.7403	10	0.72032	D	0.01	-13.7571	16.1944	0.82018	0.0:0.8666:0.1334:0.0	.	885	Q5T0W9	FA83B_HUMAN	F	885	ENSP00000304078:S885F	ENSP00000304078:S885F	S	+	2	0	FAM83B	54914382	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	4.634000	0.61325	1.315000	0.45114	0.655000	0.94253	TCT	FAM83B	-	NULL	ENSG00000168143		0.448	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	363	0.00	0	C	XM_294139		54806423	54806423	+1	no_errors	ENST00000306858	ensembl	human	known	69_37n	missense	199	28.42	79	SNP	1.000	T
FAM83B	222584	genome.wustl.edu	37	6	54806423	54806423	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:54806423C>T	ENST00000306858.7	+	5	2770	c.2654C>T	c.(2653-2655)tCt>tTt	p.S885F	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	885										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGAGATGCCTCTGCCCCAAGA	0.448																																						dbGAP											0													74.0	71.0	72.0					6																	54806423		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2654C>T	6.37:g.54806423C>T	ENSP00000304078:p.Ser885Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.S885F	ENST00000306858.7	37	c.2654	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070094	0.55539	.	.	ENSG00000168143	ENST00000306858	T	0.34472	1.36	5.63	4.73	0.59995	.	0.160839	0.44097	D	0.000482	T	0.51295	0.1666	M	0.71581	2.175	0.51482	D	0.99992	D	0.89917	1.0	D	0.87578	0.998	T	0.59710	-0.7403	10	0.72032	D	0.01	-13.7571	16.1944	0.82018	0.0:0.8666:0.1334:0.0	.	885	Q5T0W9	FA83B_HUMAN	F	885	ENSP00000304078:S885F	ENSP00000304078:S885F	S	+	2	0	FAM83B	54914382	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	4.634000	0.61325	1.315000	0.45114	0.655000	0.94253	TCT	FAM83B	-	NULL	ENSG00000168143		0.448	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	148	0.00	0	C	XM_294139		54806423	54806423	+1	no_errors	ENST00000306858	ensembl	human	known	69_37n	missense	199	28.42	79	SNP	1.000	T
FBXO39	162517	genome.wustl.edu	37	17	6690652	6690652	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:6690652G>A	ENST00000321535.4	+	4	1364	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	412										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGAGACGAATGAAGAGGACAA	0.423																																						dbGAP											0													119.0	114.0	115.0					17																	6690652		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1234G>A	17.37:g.6690652G>A	ENSP00000321386:p.Glu412Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E412K	ENST00000321535.4	37	c.1234	CCDS11082.1	17	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598781	0.66332	.	.	ENSG00000177294	ENST00000321535	T	0.12465	2.68	5.23	5.23	0.72850	.	0.181068	0.38492	N	0.001663	T	0.09862	0.0242	N	0.19112	0.55	0.38601	D	0.95066	B	0.31318	0.319	B	0.24701	0.055	T	0.15578	-1.0432	10	0.51188	T	0.08	-13.1203	14.6792	0.69004	0.0:0.0:1.0:0.0	.	412	Q8N4B4	FBX39_HUMAN	K	412	ENSP00000321386:E412K	ENSP00000321386:E412K	E	+	1	0	FBXO39	6631376	1.000000	0.71417	0.960000	0.40013	0.967000	0.64934	4.780000	0.62382	2.619000	0.88677	0.555000	0.69702	GAA	FBXO39	-	NULL	ENSG00000177294		0.423	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO39	HGNC	protein_coding	OTTHUMT00000219866.2	251	0.00	0	G	NM_153230		6690652	6690652	+1	no_errors	ENST00000321535	ensembl	human	known	69_37n	missense	97	41.57	69	SNP	0.986	A
FBXO39	162517	genome.wustl.edu	37	17	6690652	6690652	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:6690652G>A	ENST00000321535.4	+	4	1364	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	412										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGAGACGAATGAAGAGGACAA	0.423																																						dbGAP											0													119.0	114.0	115.0					17																	6690652		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1234G>A	17.37:g.6690652G>A	ENSP00000321386:p.Glu412Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E412K	ENST00000321535.4	37	c.1234	CCDS11082.1	17	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598781	0.66332	.	.	ENSG00000177294	ENST00000321535	T	0.12465	2.68	5.23	5.23	0.72850	.	0.181068	0.38492	N	0.001663	T	0.09862	0.0242	N	0.19112	0.55	0.38601	D	0.95066	B	0.31318	0.319	B	0.24701	0.055	T	0.15578	-1.0432	10	0.51188	T	0.08	-13.1203	14.6792	0.69004	0.0:0.0:1.0:0.0	.	412	Q8N4B4	FBX39_HUMAN	K	412	ENSP00000321386:E412K	ENSP00000321386:E412K	E	+	1	0	FBXO39	6631376	1.000000	0.71417	0.960000	0.40013	0.967000	0.64934	4.780000	0.62382	2.619000	0.88677	0.555000	0.69702	GAA	FBXO39	-	NULL	ENSG00000177294		0.423	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO39	HGNC	protein_coding	OTTHUMT00000219866.2	166	0.00	0	G	NM_153230		6690652	6690652	+1	no_errors	ENST00000321535	ensembl	human	known	69_37n	missense	97	41.57	69	SNP	0.986	A
FCGBP	8857	genome.wustl.edu	37	19	40377034	40377034	+	Silent	SNP	G	G	A	rs201304305	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:40377034G>A	ENST00000221347.6	-	24	11395	c.11388C>T	c.(11386-11388)aaC>aaT	p.N3796N	FCGBP_ENST00000595713.1_5'UTR	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3796	VWFD 9. {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)			TGGGGTCGCCGTTGTAGTTCC	0.597																																						dbGAP											0													4.0	4.0	4.0					19																	40377034		1716	3539	5255	-	-	-	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.11388C>T	19.37:g.40377034G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	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.N3796	ENST00000221347.6	37	c.11388	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	43	0.00	0	G	NM_003890		40377034	40377034	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	19	26.92	7	SNP	0.470	A
FCRL3	115352	genome.wustl.edu	37	1	157659599	157659599	+	Missense_Mutation	SNP	C	C	T	rs199966528		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:157659599C>T	ENST00000368184.3	-	10	2090	c.1799G>A	c.(1798-1800)cGa>cAa	p.R600Q	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R600Q	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	600						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGGTTTCCTTCGGGCCCTGGC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18554	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													82.0	75.0	78.0					1																	157659599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1799G>A	1.37:g.157659599C>T	ENSP00000357167:p.Arg600Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R600Q	ENST00000368184.3	37	c.1799	CCDS1167.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.622	-0.820711	0.02755	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.51574	0.71;0.7	5.21	-1.02	0.10135	.	32.590600	0.00751	U	0.001067	T	0.07728	0.0194	N	0.02315	-0.6	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.08055	0.002;0.003;0.002	T	0.09773	-1.0659	10	0.21014	T	0.42	.	8.6315	0.33922	0.0:0.4703:0.0:0.5297	.	600;505;600	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	Q	600	ENSP00000357169:R600Q;ENSP00000357167:R600Q	ENSP00000292392:R600Q	R	-	2	0	FCRL3	155926223	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.827000	0.04424	-0.203000	0.10251	-1.027000	0.02421	CGA	FCRL3	-	NULL	ENSG00000160856		0.527	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	99	0.00	0	C	NM_052939		157659599	157659599	-1	no_errors	ENST00000368186	ensembl	human	known	69_37n	missense	72	32.71	35	SNP	0.000	T
FCRL3	115352	genome.wustl.edu	37	1	157659599	157659599	+	Missense_Mutation	SNP	C	C	T	rs199966528		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:157659599C>T	ENST00000368184.3	-	10	2090	c.1799G>A	c.(1798-1800)cGa>cAa	p.R600Q	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R600Q	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	600						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGGTTTCCTTCGGGCCCTGGC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18554	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													82.0	75.0	78.0					1																	157659599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1799G>A	1.37:g.157659599C>T	ENSP00000357167:p.Arg600Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R600Q	ENST00000368184.3	37	c.1799	CCDS1167.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.622	-0.820711	0.02755	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.51574	0.71;0.7	5.21	-1.02	0.10135	.	32.590600	0.00751	U	0.001067	T	0.07728	0.0194	N	0.02315	-0.6	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.08055	0.002;0.003;0.002	T	0.09773	-1.0659	10	0.21014	T	0.42	.	8.6315	0.33922	0.0:0.4703:0.0:0.5297	.	600;505;600	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	Q	600	ENSP00000357169:R600Q;ENSP00000357167:R600Q	ENSP00000292392:R600Q	R	-	2	0	FCRL3	155926223	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.827000	0.04424	-0.203000	0.10251	-1.027000	0.02421	CGA	FCRL3	-	NULL	ENSG00000160856		0.527	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	73	0.00	0	C	NM_052939		157659599	157659599	-1	no_errors	ENST00000368186	ensembl	human	known	69_37n	missense	72	32.71	35	SNP	0.000	T
FERD3L	222894	genome.wustl.edu	37	7	19184707	19184707	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr7:19184707C>T	ENST00000275461.3	-	1	337	c.279G>A	c.(277-279)aaG>aaA	p.K93K	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	93					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CCCTTTTCCTCTTGGGGCGGC	0.612																																						dbGAP											0													80.0	69.0	73.0					7																	19184707		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.279G>A	7.37:g.19184707C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495K0	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.K93	ENST00000275461.3	37	c.279	CCDS5368.1	7																																																																																			FERD3L	-	pfscan_HLH_DNA-bd	ENSG00000146618		0.612	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	77	0.00	0	C			19184707	19184707	-1	no_errors	ENST00000275461	ensembl	human	known	69_37n	silent	52	30.67	23	SNP	1.000	T
FERD3L	222894	genome.wustl.edu	37	7	19184707	19184707	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr7:19184707C>T	ENST00000275461.3	-	1	337	c.279G>A	c.(277-279)aaG>aaA	p.K93K	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	93					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CCCTTTTCCTCTTGGGGCGGC	0.612																																						dbGAP											0													80.0	69.0	73.0					7																	19184707		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.279G>A	7.37:g.19184707C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495K0	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.K93	ENST00000275461.3	37	c.279	CCDS5368.1	7																																																																																			FERD3L	-	pfscan_HLH_DNA-bd	ENSG00000146618		0.612	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	64	0.00	0	C			19184707	19184707	-1	no_errors	ENST00000275461	ensembl	human	known	69_37n	silent	52	30.67	23	SNP	1.000	T
FGA	2243	genome.wustl.edu	37	4	155507703	155507703	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:155507703C>A	ENST00000302053.3	-	5	956	c.878G>T	c.(877-879)gGa>gTa	p.G293V	FGA_ENST00000403106.3_Missense_Mutation_p.G293V	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	293					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTTCCAGCTTCCAGCACTGCT	0.562																																					NSCLC(143;340 1922 20892 22370 48145)	dbGAP											0													94.0	103.0	100.0					4																	155507703		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.878G>T	4.37:g.155507703C>A	ENSP00000306361:p.Gly293Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.G293V	ENST00000302053.3	37	c.878	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557073	0.65425	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.87571	-2.27;-2.27	4.9	4.9	0.64082	.	.	.	.	.	D	0.91102	0.7199	M	0.69823	2.125	0.52099	D	0.999943	D;D	0.67145	0.996;0.964	D;P	0.67231	0.95;0.784	D	0.89531	0.3785	9	0.33940	T	0.23	.	10.8515	0.46773	0.0:0.9109:0.0:0.0891	.	293;293	P02671-2;P02671	.;FIBA_HUMAN	V	293	ENSP00000306361:G293V;ENSP00000385981:G293V	ENSP00000306361:G293V	G	-	2	0	FGA	155727153	0.155000	0.22806	0.026000	0.17262	0.015000	0.08874	2.311000	0.43717	2.428000	0.82296	0.563000	0.77884	GGA	FGA	-	NULL	ENSG00000171560		0.562	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	245	0.00	0	C	NM_000508		155507703	155507703	-1	no_errors	ENST00000302053	ensembl	human	known	69_37n	missense	161	31.78	75	SNP	0.903	A
FGA	2243	genome.wustl.edu	37	4	155507703	155507703	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:155507703C>A	ENST00000302053.3	-	5	956	c.878G>T	c.(877-879)gGa>gTa	p.G293V	FGA_ENST00000403106.3_Missense_Mutation_p.G293V	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	293					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTTCCAGCTTCCAGCACTGCT	0.562																																					NSCLC(143;340 1922 20892 22370 48145)	dbGAP											0													94.0	103.0	100.0					4																	155507703		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.878G>T	4.37:g.155507703C>A	ENSP00000306361:p.Gly293Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.G293V	ENST00000302053.3	37	c.878	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557073	0.65425	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.87571	-2.27;-2.27	4.9	4.9	0.64082	.	.	.	.	.	D	0.91102	0.7199	M	0.69823	2.125	0.52099	D	0.999943	D;D	0.67145	0.996;0.964	D;P	0.67231	0.95;0.784	D	0.89531	0.3785	9	0.33940	T	0.23	.	10.8515	0.46773	0.0:0.9109:0.0:0.0891	.	293;293	P02671-2;P02671	.;FIBA_HUMAN	V	293	ENSP00000306361:G293V;ENSP00000385981:G293V	ENSP00000306361:G293V	G	-	2	0	FGA	155727153	0.155000	0.22806	0.026000	0.17262	0.015000	0.08874	2.311000	0.43717	2.428000	0.82296	0.563000	0.77884	GGA	FGA	-	NULL	ENSG00000171560		0.562	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	185	0.00	0	C	NM_000508		155507703	155507703	-1	no_errors	ENST00000302053	ensembl	human	known	69_37n	missense	161	31.78	75	SNP	0.903	A
FLG	2312	genome.wustl.edu	37	1	152279083	152279083	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:152279083C>G	ENST00000368799.1	-	3	8314	c.8279G>C	c.(8278-8280)aGa>aCa	p.R2760T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2760	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTTCCTCTAGTGCTGGG	0.582									Ichthyosis																													dbGAP											0													103.0	142.0	128.0					1																	152279083		2196	4295	6491	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8279G>C	1.37:g.152279083C>G	ENSP00000357789:p.Arg2760Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R2760T	ENST00000368799.1	37	c.8279	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	7.824	0.718443	0.15372	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.04275	3.66	4.32	-4.38	0.03622	.	.	.	.	.	T	0.00936	0.0031	L	0.48642	1.525	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.49000	-0.8984	9	0.13853	T	0.58	.	1.7655	0.03001	0.2555:0.2018:0.3768:0.1659	.	2760	P20930	FILA_HUMAN	T	2760;22	ENSP00000357789:R2760T	ENSP00000357786:R22T	R	-	2	0	FLG	150545707	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.455000	0.00231	-0.714000	0.04975	-0.377000	0.06932	AGA	FLG	-	NULL	ENSG00000143631		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	153	0.00	0	C	NM_002016		152279083	152279083	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	196	16.24	38	SNP	0.000	G
FLG	2312	genome.wustl.edu	37	1	152279083	152279083	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:152279083C>G	ENST00000368799.1	-	3	8314	c.8279G>C	c.(8278-8280)aGa>aCa	p.R2760T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2760	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTTCCTCTAGTGCTGGG	0.582									Ichthyosis																													dbGAP											0													103.0	142.0	128.0					1																	152279083		2196	4295	6491	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8279G>C	1.37:g.152279083C>G	ENSP00000357789:p.Arg2760Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R2760T	ENST00000368799.1	37	c.8279	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	7.824	0.718443	0.15372	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.04275	3.66	4.32	-4.38	0.03622	.	.	.	.	.	T	0.00936	0.0031	L	0.48642	1.525	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.49000	-0.8984	9	0.13853	T	0.58	.	1.7655	0.03001	0.2555:0.2018:0.3768:0.1659	.	2760	P20930	FILA_HUMAN	T	2760;22	ENSP00000357789:R2760T	ENSP00000357786:R22T	R	-	2	0	FLG	150545707	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.455000	0.00231	-0.714000	0.04975	-0.377000	0.06932	AGA	FLG	-	NULL	ENSG00000143631		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	235	0.00	0	C	NM_002016		152279083	152279083	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	196	16.24	38	SNP	0.000	G
FMO2	2327	genome.wustl.edu	37	1	171154948	171154948	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:171154948G>C	ENST00000209929.7	+	2	254	c.96G>C	c.(94-96)gaG>gaC	p.E32D	FMO2_ENST00000441535.1_Missense_Mutation_p.E32D|FMO2_ENST00000529935.1_Intron			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	32					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTGCTTTGAGAGAACTGAAG	0.458																																						dbGAP											0													258.0	245.0	250.0					1																	171154948		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.96G>C	1.37:g.171154948G>C	ENSP00000209929:p.Glu32Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.E32D	ENST00000209929.7	37	c.96	CCDS1293.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024295	0.75390	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.79352	-1.26;-1.26	5.66	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.88704	2.975	0.41136	D	0.985923	D	0.89917	1.0	D	0.97110	1.0	D	0.86538	0.1826	10	0.66056	D	0.02	-27.4871	8.6231	0.33872	0.2467:0.0:0.7533:0.0	.	32	Q99518	FMO2_HUMAN	D	32	ENSP00000209929:E32D;ENSP00000405905:E32D	ENSP00000209929:E32D	E	+	3	2	FMO2	169421572	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	1.233000	0.32648	1.354000	0.45846	0.655000	0.94253	GAG	FMO2	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase	ENSG00000094963		0.458	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	244	0.00	0	G	NM_001460		171154948	171154948	+1	no_errors	ENST00000209929	ensembl	human	known	69_37n	missense	198	25.47	68	SNP	1.000	C
FMO2	2327	genome.wustl.edu	37	1	171154948	171154948	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:171154948G>C	ENST00000209929.7	+	2	254	c.96G>C	c.(94-96)gaG>gaC	p.E32D	FMO2_ENST00000441535.1_Missense_Mutation_p.E32D|FMO2_ENST00000529935.1_Intron			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	32					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTGCTTTGAGAGAACTGAAG	0.458																																						dbGAP											0													258.0	245.0	250.0					1																	171154948		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.96G>C	1.37:g.171154948G>C	ENSP00000209929:p.Glu32Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.E32D	ENST00000209929.7	37	c.96	CCDS1293.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024295	0.75390	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.79352	-1.26;-1.26	5.66	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.88704	2.975	0.41136	D	0.985923	D	0.89917	1.0	D	0.97110	1.0	D	0.86538	0.1826	10	0.66056	D	0.02	-27.4871	8.6231	0.33872	0.2467:0.0:0.7533:0.0	.	32	Q99518	FMO2_HUMAN	D	32	ENSP00000209929:E32D;ENSP00000405905:E32D	ENSP00000209929:E32D	E	+	3	2	FMO2	169421572	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	1.233000	0.32648	1.354000	0.45846	0.655000	0.94253	GAG	FMO2	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase	ENSG00000094963		0.458	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	229	0.00	0	G	NM_001460		171154948	171154948	+1	no_errors	ENST00000209929	ensembl	human	known	69_37n	missense	198	25.47	68	SNP	1.000	C
FNDC1	84624	genome.wustl.edu	37	6	159650875	159650875	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:159650875C>G	ENST00000297267.9	+	10	1409	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L	FNDC1_ENST00000340366.6_Intron	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	403	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCCGGCTCTCAAACCATTTG	0.493																																						dbGAP											0													162.0	167.0	166.0					6																	159650875		1910	4115	6025	-	-	-	SO:0001819	synonymous_variant	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1209C>G	6.37:g.159650875C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L403	ENST00000297267.9	37	c.1209	CCDS47512.1	6																																																																																			FNDC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164694		0.493	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	289	0.34	1	C	NM_032532		159650875	159650875	+1	no_errors	ENST00000297267	ensembl	human	known	69_37n	silent	213	31.09	97	SNP	1.000	G
FNDC1	84624	genome.wustl.edu	37	6	159650875	159650875	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:159650875C>G	ENST00000297267.9	+	10	1409	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L	FNDC1_ENST00000340366.6_Intron	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	403	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCCGGCTCTCAAACCATTTG	0.493																																						dbGAP											0													162.0	167.0	166.0					6																	159650875		1910	4115	6025	-	-	-	SO:0001819	synonymous_variant	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1209C>G	6.37:g.159650875C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L403	ENST00000297267.9	37	c.1209	CCDS47512.1	6																																																																																			FNDC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164694		0.493	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	429	0.00	0	C	NM_032532		159650875	159650875	+1	no_errors	ENST00000297267	ensembl	human	known	69_37n	silent	213	31.09	97	SNP	1.000	G
FOXP1	27086	genome.wustl.edu	37	3	71247211	71247211	+	Intron	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr3:71247211G>C	ENST00000318789.4	-	6	706				FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000318779.3_Silent_p.L63L|FOXP1_ENST00000498215.1_Intron	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GATGGTTTATGAGATGCCACT	0.483			T	PAX5	ALL																																	dbGAP		Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													51.0	52.0	51.0					3																	71247211		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.180+141C>G	3.37:g.71247211G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	NULL	p.L63	ENST00000318789.4	37	c.189	CCDS2914.1	3																																																																																			FOXP1	-	NULL	ENSG00000114861		0.483	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	275	0.00	0	G	NM_032682		71247211	71247211	-1	no_errors	ENST00000318779	ensembl	human	putative	69_37n	silent	35	23.91	11	SNP	0.000	C
FOXP1	27086	genome.wustl.edu	37	3	71247211	71247211	+	Intron	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr3:71247211G>C	ENST00000318789.4	-	6	706				FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000318779.3_Silent_p.L63L|FOXP1_ENST00000498215.1_Intron	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GATGGTTTATGAGATGCCACT	0.483			T	PAX5	ALL																																	dbGAP		Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													51.0	52.0	51.0					3																	71247211		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.180+141C>G	3.37:g.71247211G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	NULL	p.L63	ENST00000318789.4	37	c.189	CCDS2914.1	3																																																																																			FOXP1	-	NULL	ENSG00000114861		0.483	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	85	0.00	0	G	NM_032682		71247211	71247211	-1	no_errors	ENST00000318779	ensembl	human	putative	69_37n	silent	35	23.91	11	SNP	0.000	C
FRAS1	80144	genome.wustl.edu	37	4	79188530	79188530	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:79188530G>A	ENST00000325942.6	+	9	1365	c.925G>A	c.(925-927)Gat>Aat	p.D309N	FRAS1_ENST00000264895.6_Missense_Mutation_p.D309N|FRAS1_ENST00000264899.6_Missense_Mutation_p.D309N	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	309	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTGCATGTGTGATCATGGCCA	0.552																																						dbGAP											0													79.0	85.0	83.0					4																	79188530		2141	4238	6379	-	-	-	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.925G>A	4.37:g.79188530G>A	ENSP00000326330:p.Asp309Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.D309N	ENST00000325942.6	37	c.925	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	G	4.465	0.086123	0.08583	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913	T;T;T	0.72394	-0.65;-0.65;-0.65	5.19	0.362	0.16113	von Willebrand factor, type C (4);	0.604109	0.17317	N	0.178643	T	0.52805	0.1757	L	0.33293	1	0.09310	N	1	B;B;B;B	0.12630	0.004;0.004;0.004;0.006	B;B;B;B	0.18871	0.02;0.02;0.023;0.02	T	0.32613	-0.9900	10	0.21540	T	0.41	.	6.9847	0.24721	0.2537:0.2081:0.5382:0.0	.	309;309;309;309	E9PHH6;Q86XX4;E7EWM9;A2RRR8	.;FRAS1_HUMAN;.;.	N	309;309;309;49	ENSP00000326330:D309N;ENSP00000264895:D309N;ENSP00000264899:D309N	ENSP00000264895:D309N	D	+	1	0	FRAS1	79407554	0.999000	0.42202	0.005000	0.12908	0.002000	0.02628	0.843000	0.27640	0.029000	0.15352	-0.748000	0.03510	GAT	FRAS1	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	ENSG00000138759		0.552	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	39	0.00	0	G			79188530	79188530	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	13	30.00	6	SNP	0.012	A
FRAS1	80144	genome.wustl.edu	37	4	79188530	79188530	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:79188530G>A	ENST00000325942.6	+	9	1365	c.925G>A	c.(925-927)Gat>Aat	p.D309N	FRAS1_ENST00000264895.6_Missense_Mutation_p.D309N|FRAS1_ENST00000264899.6_Missense_Mutation_p.D309N	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	309	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTGCATGTGTGATCATGGCCA	0.552																																						dbGAP											0													79.0	85.0	83.0					4																	79188530		2141	4238	6379	-	-	-	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.925G>A	4.37:g.79188530G>A	ENSP00000326330:p.Asp309Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.D309N	ENST00000325942.6	37	c.925	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	G	4.465	0.086123	0.08583	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913	T;T;T	0.72394	-0.65;-0.65;-0.65	5.19	0.362	0.16113	von Willebrand factor, type C (4);	0.604109	0.17317	N	0.178643	T	0.52805	0.1757	L	0.33293	1	0.09310	N	1	B;B;B;B	0.12630	0.004;0.004;0.004;0.006	B;B;B;B	0.18871	0.02;0.02;0.023;0.02	T	0.32613	-0.9900	10	0.21540	T	0.41	.	6.9847	0.24721	0.2537:0.2081:0.5382:0.0	.	309;309;309;309	E9PHH6;Q86XX4;E7EWM9;A2RRR8	.;FRAS1_HUMAN;.;.	N	309;309;309;49	ENSP00000326330:D309N;ENSP00000264895:D309N;ENSP00000264899:D309N	ENSP00000264895:D309N	D	+	1	0	FRAS1	79407554	0.999000	0.42202	0.005000	0.12908	0.002000	0.02628	0.843000	0.27640	0.029000	0.15352	-0.748000	0.03510	GAT	FRAS1	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	ENSG00000138759		0.552	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	33	0.00	0	G			79188530	79188530	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	13	30.00	6	SNP	0.012	A
CMTR2	55783	genome.wustl.edu	37	16	71319082	71319082	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr16:71319082C>G	ENST00000338099.5	-	3	1078	c.742G>C	c.(742-744)Gaa>Caa	p.E248Q	CMTR2_ENST00000434935.2_Missense_Mutation_p.E248Q			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	248	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										ACTAAAGCTTCTTGTTCACCT	0.413																																						dbGAP											0													104.0	110.0	108.0					16																	71319082		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.742G>C	16.37:g.71319082C>G	ENSP00000337512:p.Glu248Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom	p.E248Q	ENST00000338099.5	37	c.742	CCDS10898.1	16	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038465	0.75617	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.33654	1.4;1.4	6.04	6.04	0.98038	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.054234	0.64402	D	0.000001	T	0.72763	0.3501	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79313	-0.1855	10	0.72032	D	0.01	-16.859	19.5674	0.95401	0.0:1.0:0.0:0.0	.	248	Q8IYT2	FTSJ1_HUMAN	Q	248	ENSP00000337512:E248Q;ENSP00000411148:E248Q	ENSP00000337512:E248Q	E	-	1	0	FTSJD1	69876583	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.873000	0.98535	0.561000	0.74099	GAA	FTSJD1	-	pfam_rRNA_MeTrfase_FtsJ_dom	ENSG00000180917		0.413	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD1	HGNC	protein_coding	OTTHUMT00000268984.2	233	0.00	0	C	NM_018348		71319082	71319082	-1	no_errors	ENST00000338099	ensembl	human	known	69_37n	missense	98	44.32	78	SNP	1.000	G
CMTR2	55783	genome.wustl.edu	37	16	71319082	71319082	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr16:71319082C>G	ENST00000338099.5	-	3	1078	c.742G>C	c.(742-744)Gaa>Caa	p.E248Q	CMTR2_ENST00000434935.2_Missense_Mutation_p.E248Q			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	248	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										ACTAAAGCTTCTTGTTCACCT	0.413																																						dbGAP											0													104.0	110.0	108.0					16																	71319082		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.742G>C	16.37:g.71319082C>G	ENSP00000337512:p.Glu248Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom	p.E248Q	ENST00000338099.5	37	c.742	CCDS10898.1	16	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038465	0.75617	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.33654	1.4;1.4	6.04	6.04	0.98038	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.054234	0.64402	D	0.000001	T	0.72763	0.3501	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79313	-0.1855	10	0.72032	D	0.01	-16.859	19.5674	0.95401	0.0:1.0:0.0:0.0	.	248	Q8IYT2	FTSJ1_HUMAN	Q	248	ENSP00000337512:E248Q;ENSP00000411148:E248Q	ENSP00000337512:E248Q	E	-	1	0	FTSJD1	69876583	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.873000	0.98535	0.561000	0.74099	GAA	FTSJD1	-	pfam_rRNA_MeTrfase_FtsJ_dom	ENSG00000180917		0.413	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD1	HGNC	protein_coding	OTTHUMT00000268984.2	230	0.00	0	C	NM_018348		71319082	71319082	-1	no_errors	ENST00000338099	ensembl	human	known	69_37n	missense	98	44.32	78	SNP	1.000	G
FUT11	170384	genome.wustl.edu	37	10	75532727	75532727	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr10:75532727C>G	ENST00000372841.3	+	1	679	c.636C>G	c.(634-636)ctC>ctG	p.L212L	AC022400.2_ENST00000595757.1_5'Flank|RMRPP1_ENST00000517236.1_RNA|FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Silent_p.L212L	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	212					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CGCCGCTGCTCTATCTGCAGT	0.726																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.636C>G	10.37:g.75532727C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495W7|Q8IYE4	Silent	SNP	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.L212	ENST00000372841.3	37	c.636	CCDS7333.1	10																																																																																			FUT11	-	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	ENSG00000196968		0.726	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT11	HGNC	protein_coding	OTTHUMT00000048689.1	38	0.00	0	C	NM_173540		75532727	75532727	+1	no_errors	ENST00000372841	ensembl	human	known	69_37n	silent	16	33.33	8	SNP	0.994	G
FUT11	170384	genome.wustl.edu	37	10	75532727	75532727	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr10:75532727C>G	ENST00000372841.3	+	1	679	c.636C>G	c.(634-636)ctC>ctG	p.L212L	AC022400.2_ENST00000595757.1_5'Flank|RMRPP1_ENST00000517236.1_RNA|FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Silent_p.L212L	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	212					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CGCCGCTGCTCTATCTGCAGT	0.726																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.636C>G	10.37:g.75532727C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495W7|Q8IYE4	Silent	SNP	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.L212	ENST00000372841.3	37	c.636	CCDS7333.1	10																																																																																			FUT11	-	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	ENSG00000196968		0.726	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT11	HGNC	protein_coding	OTTHUMT00000048689.1	18	0.00	0	C	NM_173540		75532727	75532727	+1	no_errors	ENST00000372841	ensembl	human	known	69_37n	silent	16	33.33	8	SNP	0.994	G
GOLGA4	2803	genome.wustl.edu	37	3	37367848	37367848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr3:37367848C>T	ENST00000361924.2	+	14	4845	c.4471C>T	c.(4471-4473)Caa>Taa	p.Q1491*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.Q1513*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1491	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTTGATCAGCAAAATAAAAG	0.333																																						dbGAP											0													56.0	61.0	60.0					3																	37367848		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4471C>T	3.37:g.37367848C>T	ENSP00000354486:p.Gln1491*	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.Q1491*	ENST00000361924.2	37	c.4471	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	C	41	8.579716	0.98872	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	5.39	3.45	0.39498	.	0.235410	0.21983	N	0.066271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	12.1814	0.54214	0.1256:0.7359:0.1384:0.0	.	.	.	.	X	1491;1513;1362	.	ENSP00000349305:Q1513X	Q	+	1	0	GOLGA4	37342852	0.974000	0.33945	0.106000	0.21319	0.165000	0.22458	0.900000	0.28431	1.253000	0.44018	0.557000	0.71058	CAA	GOLGA4	-	NULL	ENSG00000144674		0.333	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	291	0.00	0	C	NM_002078		37367848	37367848	+1	no_errors	ENST00000361924	ensembl	human	known	69_37n	nonsense	307	31.78	143	SNP	0.397	T
GOLGA4	2803	genome.wustl.edu	37	3	37367848	37367848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr3:37367848C>T	ENST00000361924.2	+	14	4845	c.4471C>T	c.(4471-4473)Caa>Taa	p.Q1491*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.Q1513*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1491	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTTGATCAGCAAAATAAAAG	0.333																																						dbGAP											0													56.0	61.0	60.0					3																	37367848		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4471C>T	3.37:g.37367848C>T	ENSP00000354486:p.Gln1491*	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.Q1491*	ENST00000361924.2	37	c.4471	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	C	41	8.579716	0.98872	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	5.39	3.45	0.39498	.	0.235410	0.21983	N	0.066271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	12.1814	0.54214	0.1256:0.7359:0.1384:0.0	.	.	.	.	X	1491;1513;1362	.	ENSP00000349305:Q1513X	Q	+	1	0	GOLGA4	37342852	0.974000	0.33945	0.106000	0.21319	0.165000	0.22458	0.900000	0.28431	1.253000	0.44018	0.557000	0.71058	CAA	GOLGA4	-	NULL	ENSG00000144674		0.333	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	298	0.00	0	C	NM_002078		37367848	37367848	+1	no_errors	ENST00000361924	ensembl	human	known	69_37n	nonsense	307	31.78	143	SNP	0.397	T
GOLGA4	2803	genome.wustl.edu	37	3	37368485	37368485	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr3:37368485C>G	ENST00000361924.2	+	14	5482	c.5108C>G	c.(5107-5109)tCa>tGa	p.S1703*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.S1725*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1703	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTTCACAGTCAGAAACATTA	0.383																																						dbGAP											0													110.0	119.0	116.0					3																	37368485		2202	4297	6499	-	-	-	SO:0001587	stop_gained	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5108C>G	3.37:g.37368485C>G	ENSP00000354486:p.Ser1703*	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.S1703*	ENST00000361924.2	37	c.5108	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	C	42	9.794790	0.99266	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	4.39	3.51	0.40186	.	0.311045	0.17953	N	0.156453	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	4.5111	0.11912	0.0:0.7558:0.0:0.2442	.	.	.	.	X	1703;1725;1574	.	ENSP00000349305:S1725X	S	+	2	0	GOLGA4	37343489	0.245000	0.23899	0.067000	0.19924	0.110000	0.19582	2.394000	0.44450	2.397000	0.81536	0.561000	0.74099	TCA	GOLGA4	-	NULL	ENSG00000144674		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	595	0.00	0	C	NM_002078		37368485	37368485	+1	no_errors	ENST00000361924	ensembl	human	known	69_37n	nonsense	543	32.34	260	SNP	0.279	G
GOLGA4	2803	genome.wustl.edu	37	3	37368485	37368485	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr3:37368485C>G	ENST00000361924.2	+	14	5482	c.5108C>G	c.(5107-5109)tCa>tGa	p.S1703*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.S1725*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1703	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTTCACAGTCAGAAACATTA	0.383																																						dbGAP											0													110.0	119.0	116.0					3																	37368485		2202	4297	6499	-	-	-	SO:0001587	stop_gained	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5108C>G	3.37:g.37368485C>G	ENSP00000354486:p.Ser1703*	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.S1703*	ENST00000361924.2	37	c.5108	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	C	42	9.794790	0.99266	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	4.39	3.51	0.40186	.	0.311045	0.17953	N	0.156453	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	4.5111	0.11912	0.0:0.7558:0.0:0.2442	.	.	.	.	X	1703;1725;1574	.	ENSP00000349305:S1725X	S	+	2	0	GOLGA4	37343489	0.245000	0.23899	0.067000	0.19924	0.110000	0.19582	2.394000	0.44450	2.397000	0.81536	0.561000	0.74099	TCA	GOLGA4	-	NULL	ENSG00000144674		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	551	0.00	0	C	NM_002078		37368485	37368485	+1	no_errors	ENST00000361924	ensembl	human	known	69_37n	nonsense	543	32.34	260	SNP	0.279	G
GORAB	92344	genome.wustl.edu	37	1	170501403	170501403	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:170501403G>C	ENST00000367763.3	+	1	134	c.114G>C	c.(112-114)ctG>ctC	p.L38L	RP11-576I22.2_ENST00000421020.1_RNA|GORAB_ENST00000367762.1_Silent_p.L38L|RP11-576I22.2_ENST00000456083.1_RNA	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	38						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGAGGAACTGAGGAGACTAA	0.562																																						dbGAP											0													74.0	83.0	80.0					1																	170501403		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.114G>C	1.37:g.170501403G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Silent	SNP	pfam_Golgin_RAB6-interacting	p.L38	ENST00000367763.3	37	c.114	CCDS1289.1	1																																																																																			GORAB	-	NULL	ENSG00000120370		0.562	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GORAB	HGNC	protein_coding	OTTHUMT00000085226.1	106	0.00	0	G	NM_152281		170501403	170501403	+1	no_errors	ENST00000367763	ensembl	human	known	69_37n	silent	66	22.35	19	SNP	1.000	C
GORAB	92344	genome.wustl.edu	37	1	170501403	170501403	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:170501403G>C	ENST00000367763.3	+	1	134	c.114G>C	c.(112-114)ctG>ctC	p.L38L	RP11-576I22.2_ENST00000421020.1_RNA|GORAB_ENST00000367762.1_Silent_p.L38L|RP11-576I22.2_ENST00000456083.1_RNA	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	38						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGAGGAACTGAGGAGACTAA	0.562																																						dbGAP											0													74.0	83.0	80.0					1																	170501403		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.114G>C	1.37:g.170501403G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Silent	SNP	pfam_Golgin_RAB6-interacting	p.L38	ENST00000367763.3	37	c.114	CCDS1289.1	1																																																																																			GORAB	-	NULL	ENSG00000120370		0.562	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GORAB	HGNC	protein_coding	OTTHUMT00000085226.1	55	0.00	0	G	NM_152281		170501403	170501403	+1	no_errors	ENST00000367763	ensembl	human	known	69_37n	silent	66	22.35	19	SNP	1.000	C
GPR17	2840	genome.wustl.edu	37	2	128409206	128409206	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:128409206C>T	ENST00000272644.3	+	3	1055	c.981C>T	c.(979-981)ttC>ttT	p.F327F	GPR17_ENST00000393018.3_Silent_p.F327F|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000544369.1_Silent_p.F327F|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	327					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TGTATTTCTTCGTGGCTGAGA	0.632																																						dbGAP											0													70.0	80.0	76.0					2																	128409206		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.981C>T	2.37:g.128409206C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt	p.F327	ENST00000272644.3	37	c.981	CCDS2148.1	2																																																																																			GPR17	-	prints_7TM_GPCR_Rhodpsn	ENSG00000144230		0.632	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR17	HGNC	protein_coding	OTTHUMT00000254390.1	26	0.00	0	C			128409206	128409206	+1	no_errors	ENST00000272644	ensembl	human	known	69_37n	silent	10	52.38	11	SNP	0.547	T
GPR17	2840	genome.wustl.edu	37	2	128409206	128409206	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:128409206C>T	ENST00000272644.3	+	3	1055	c.981C>T	c.(979-981)ttC>ttT	p.F327F	GPR17_ENST00000393018.3_Silent_p.F327F|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000544369.1_Silent_p.F327F|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	327					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TGTATTTCTTCGTGGCTGAGA	0.632																																						dbGAP											0													70.0	80.0	76.0					2																	128409206		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.981C>T	2.37:g.128409206C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt	p.F327	ENST00000272644.3	37	c.981	CCDS2148.1	2																																																																																			GPR17	-	prints_7TM_GPCR_Rhodpsn	ENSG00000144230		0.632	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR17	HGNC	protein_coding	OTTHUMT00000254390.1	20	0.00	0	C			128409206	128409206	+1	no_errors	ENST00000272644	ensembl	human	known	69_37n	silent	10	52.38	11	SNP	0.547	T
GRIA3	2892	genome.wustl.edu	37	X	122528932	122528932	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:122528932G>A	ENST00000371251.1	+	6	916	c.864G>A	c.(862-864)gtG>gtA	p.V288V	GRIA3_ENST00000371256.5_Silent_p.V288V|GRIA3_ENST00000542149.1_Silent_p.V288V|GRIA3_ENST00000541091.1_Silent_p.V272V|GRIA3_ENST00000264357.5_Silent_p.V288V			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	288					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AGCGCTGGGTGAGGCTGGATG	0.443																																						dbGAP											0													125.0	117.0	120.0					X																	122528932		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.864G>A	X.37:g.122528932G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V288	ENST00000371251.1	37	c.864	CCDS14604.1	X																																																																																			GRIA3	-	pfam_ANF_lig-bd_rcpt	ENSG00000125675		0.443	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	231	0.00	0	G	NM_000828		122528932	122528932	+1	no_errors	ENST00000264357	ensembl	human	known	69_37n	silent	281	30.79	125	SNP	1.000	A
GRIA3	2892	genome.wustl.edu	37	X	122528932	122528932	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:122528932G>A	ENST00000371251.1	+	6	916	c.864G>A	c.(862-864)gtG>gtA	p.V288V	GRIA3_ENST00000371256.5_Silent_p.V288V|GRIA3_ENST00000542149.1_Silent_p.V288V|GRIA3_ENST00000541091.1_Silent_p.V272V|GRIA3_ENST00000264357.5_Silent_p.V288V			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	288					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AGCGCTGGGTGAGGCTGGATG	0.443																																						dbGAP											0													125.0	117.0	120.0					X																	122528932		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.864G>A	X.37:g.122528932G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V288	ENST00000371251.1	37	c.864	CCDS14604.1	X																																																																																			GRIA3	-	pfam_ANF_lig-bd_rcpt	ENSG00000125675		0.443	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	293	0.00	0	G	NM_000828		122528932	122528932	+1	no_errors	ENST00000264357	ensembl	human	known	69_37n	silent	281	30.79	125	SNP	1.000	A
GSPT1	2935	genome.wustl.edu	37	16	11971338	11971338	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr16:11971338C>G	ENST00000563468.1	-	10	1140	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q	GSPT1_ENST00000420576.2_Missense_Mutation_p.E372Q|GSPT1_ENST00000564790.1_5'Flank|GSPT1_ENST00000434724.2_Missense_Mutation_p.E510Q|GSPT1_ENST00000439887.2_Missense_Mutation_p.E509Q|RP11-166B2.8_ENST00000574364.1_RNA			P15170	ERF3A_HUMAN	G1 to S phase transition 1	372					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						AGAATCTCCTCTTCTTCAATT	0.398																																						dbGAP											0													81.0	81.0	81.0					16																	11971338		2085	4247	6332	-	-	-	SO:0001583	missense	0			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.1114G>C	16.37:g.11971338C>G	ENSP00000454351:p.Glu372Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQG6|Q96GF2	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd	p.E510Q	ENST00000563468.1	37	c.1528	CCDS45414.1	16	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892424	0.91889	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.66995	-0.24;-0.24;-0.24	5.17	5.17	0.71159	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	U	0.000000	T	0.81758	0.4890	M	0.82433	2.59	0.80722	D	1	D;D;P	0.65815	0.995;0.995;0.884	P;P;P	0.61533	0.89;0.89;0.642	D	0.84850	0.0813	10	0.72032	D	0.01	-15.7949	17.2504	0.87041	0.0:1.0:0.0:0.0	.	509;506;372	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	Q	510;509;372	ENSP00000398131:E510Q;ENSP00000408399:E509Q;ENSP00000399539:E372Q	ENSP00000399539:E372Q	E	-	1	0	GSPT1	11878839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.459000	0.80802	2.413000	0.81919	0.585000	0.79938	GAG	GSPT1	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel	ENSG00000103342		0.398	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	GSPT1	HGNC	protein_coding	OTTHUMT00000421513.1	98	0.00	0	C	NM_002094		11971338	11971338	-1	no_errors	ENST00000434724	ensembl	human	known	69_37n	missense	97	24.81	32	SNP	1.000	G
GSPT1	2935	genome.wustl.edu	37	16	11971338	11971338	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr16:11971338C>G	ENST00000563468.1	-	10	1140	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q	GSPT1_ENST00000420576.2_Missense_Mutation_p.E372Q|GSPT1_ENST00000564790.1_5'Flank|GSPT1_ENST00000434724.2_Missense_Mutation_p.E510Q|GSPT1_ENST00000439887.2_Missense_Mutation_p.E509Q|RP11-166B2.8_ENST00000574364.1_RNA			P15170	ERF3A_HUMAN	G1 to S phase transition 1	372					G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						AGAATCTCCTCTTCTTCAATT	0.398																																						dbGAP											0													81.0	81.0	81.0					16																	11971338		2085	4247	6332	-	-	-	SO:0001583	missense	0			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.1114G>C	16.37:g.11971338C>G	ENSP00000454351:p.Glu372Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQG6|Q96GF2	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd	p.E510Q	ENST00000563468.1	37	c.1528	CCDS45414.1	16	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892424	0.91889	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.66995	-0.24;-0.24;-0.24	5.17	5.17	0.71159	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	U	0.000000	T	0.81758	0.4890	M	0.82433	2.59	0.80722	D	1	D;D;P	0.65815	0.995;0.995;0.884	P;P;P	0.61533	0.89;0.89;0.642	D	0.84850	0.0813	10	0.72032	D	0.01	-15.7949	17.2504	0.87041	0.0:1.0:0.0:0.0	.	509;506;372	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	Q	510;509;372	ENSP00000398131:E510Q;ENSP00000408399:E509Q;ENSP00000399539:E372Q	ENSP00000399539:E372Q	E	-	1	0	GSPT1	11878839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.459000	0.80802	2.413000	0.81919	0.585000	0.79938	GAG	GSPT1	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel	ENSG00000103342		0.398	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	GSPT1	HGNC	protein_coding	OTTHUMT00000421513.1	68	0.00	0	C	NM_002094		11971338	11971338	-1	no_errors	ENST00000434724	ensembl	human	known	69_37n	missense	97	24.81	32	SNP	1.000	G
HCAR1	27198	genome.wustl.edu	37	12	123214247	123214247	+	Silent	SNP	G	G	T	rs149599946		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr12:123214247G>T	ENST00000436083.2	-	1	1143	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	HCAR1_ENST00000432564.1_Silent_p.R214R|HCAR1_ENST00000356987.2_Silent_p.R214R			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	214					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						TTCTTCATCCGAGCCTGTCTG	0.537																																						dbGAP											0													61.0	56.0	58.0					12																	123214247		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.640C>A	12.37:g.123214247G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R214	ENST00000436083.2	37	c.640	CCDS9236.1	12																																																																																			HCAR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196917		0.537	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR1	HGNC	protein_coding	OTTHUMT00000401415.1	210	0.00	0	G			123214247	123214247	-1	no_errors	ENST00000356987	ensembl	human	known	69_37n	silent	125	33.33	63	SNP	0.868	T
HCAR1	27198	genome.wustl.edu	37	12	123214247	123214247	+	Silent	SNP	G	G	T	rs149599946		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr12:123214247G>T	ENST00000436083.2	-	1	1143	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	HCAR1_ENST00000432564.1_Silent_p.R214R|HCAR1_ENST00000356987.2_Silent_p.R214R			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	214					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						TTCTTCATCCGAGCCTGTCTG	0.537																																						dbGAP											0													61.0	56.0	58.0					12																	123214247		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.640C>A	12.37:g.123214247G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R214	ENST00000436083.2	37	c.640	CCDS9236.1	12																																																																																			HCAR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196917		0.537	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR1	HGNC	protein_coding	OTTHUMT00000401415.1	98	0.00	0	G			123214247	123214247	-1	no_errors	ENST00000356987	ensembl	human	known	69_37n	silent	125	33.33	63	SNP	0.868	T
HERC5	51191	genome.wustl.edu	37	4	89388332	89388332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:89388332C>A	ENST00000264350.3	+	7	1187	c.1034C>A	c.(1033-1035)tCa>tAa	p.S345*	HERC5_ENST00000508159.1_5'Flank	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	345					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S345*(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTGAAAGTATCATCAAGTGAA	0.393																																					Esophageal Squamous(39;887 1012 34045 50514)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											110.0	106.0	108.0					4																	89388332		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1034C>A	4.37:g.89388332C>A	ENSP00000264350:p.Ser345*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ1|Q69G20	Nonsense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S345*	ENST00000264350.3	37	c.1034	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707928	0.89018	.	.	ENSG00000138646	ENST00000264350	.	.	.	4.32	3.48	0.39840	.	0.932943	0.08982	N	0.865563	.	.	.	.	.	.	0.46631	D	0.999137	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1379	0.42717	0.0:0.9042:0.0:0.0958	.	.	.	.	X	345	.	ENSP00000264350:S345X	S	+	2	0	HERC5	89607355	0.001000	0.12720	0.026000	0.17262	0.034000	0.12701	0.844000	0.27654	1.422000	0.47177	0.585000	0.79938	TCA	HERC5	-	pfam_Reg_chr_condens,pfscan_Reg_chr_condens	ENSG00000138646		0.393	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	294	0.00	0	C	NM_016323		89388332	89388332	+1	no_errors	ENST00000264350	ensembl	human	known	69_37n	nonsense	137	25.95	48	SNP	0.324	A
HERC5	51191	genome.wustl.edu	37	4	89388332	89388332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:89388332C>A	ENST00000264350.3	+	7	1187	c.1034C>A	c.(1033-1035)tCa>tAa	p.S345*	HERC5_ENST00000508159.1_5'Flank	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	345					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S345*(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTGAAAGTATCATCAAGTGAA	0.393																																					Esophageal Squamous(39;887 1012 34045 50514)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											110.0	106.0	108.0					4																	89388332		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1034C>A	4.37:g.89388332C>A	ENSP00000264350:p.Ser345*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ1|Q69G20	Nonsense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S345*	ENST00000264350.3	37	c.1034	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707928	0.89018	.	.	ENSG00000138646	ENST00000264350	.	.	.	4.32	3.48	0.39840	.	0.932943	0.08982	N	0.865563	.	.	.	.	.	.	0.46631	D	0.999137	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1379	0.42717	0.0:0.9042:0.0:0.0958	.	.	.	.	X	345	.	ENSP00000264350:S345X	S	+	2	0	HERC5	89607355	0.001000	0.12720	0.026000	0.17262	0.034000	0.12701	0.844000	0.27654	1.422000	0.47177	0.585000	0.79938	TCA	HERC5	-	pfam_Reg_chr_condens,pfscan_Reg_chr_condens	ENSG00000138646		0.393	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	96	0.00	0	C	NM_016323		89388332	89388332	+1	no_errors	ENST00000264350	ensembl	human	known	69_37n	nonsense	137	25.95	48	SNP	0.324	A
HIST1H1C	3006	genome.wustl.edu	37	6	26056039	26056039	+	Missense_Mutation	SNP	C	C	A	rs61742488	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:26056039C>A	ENST00000343677.2	-	1	660	c.618G>T	c.(616-618)aaG>aaT	p.K206N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	206					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCGCCGCCTTCTTAGGCTTGA	0.502																																						dbGAP											0													58.0	61.0	60.0					6																	26056039		2202	4300	6502	-	-	-	SO:0001583	missense	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.618G>T	6.37:g.26056039C>A	ENSP00000339566:p.Lys206Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K206N	ENST00000343677.2	37	c.618	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224238	0.39300	.	.	ENSG00000187837	ENST00000343677	T	0.19806	2.12	5.31	3.5	0.40072	.	0.113159	0.64402	D	0.000018	T	0.13884	0.0336	N	0.08118	0	0.58432	D	0.999996	D	0.76494	0.999	D	0.80764	0.994	T	0.12889	-1.0530	10	0.66056	D	0.02	-5.0641	10.0009	0.41929	0.0:0.7753:0.0:0.2247	.	206	P16403	H12_HUMAN	N	206	ENSP00000339566:K206N	ENSP00000339566:K206N	K	-	3	2	HIST1H1C	26164018	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	0.829000	0.27449	1.370000	0.46153	0.655000	0.94253	AAG	HIST1H1C	-	prints_Histone_H5	ENSG00000187837		0.502	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	55	0.00	0	C	NM_005319		26056039	26056039	-1	no_errors	ENST00000343677	ensembl	human	known	69_37n	missense	58	32.56	28	SNP	1.000	A
HIST1H1C	3006	genome.wustl.edu	37	6	26056039	26056039	+	Missense_Mutation	SNP	C	C	A	rs61742488	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:26056039C>A	ENST00000343677.2	-	1	660	c.618G>T	c.(616-618)aaG>aaT	p.K206N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	206					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCGCCGCCTTCTTAGGCTTGA	0.502																																						dbGAP											0													58.0	61.0	60.0					6																	26056039		2202	4300	6502	-	-	-	SO:0001583	missense	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.618G>T	6.37:g.26056039C>A	ENSP00000339566:p.Lys206Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K206N	ENST00000343677.2	37	c.618	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224238	0.39300	.	.	ENSG00000187837	ENST00000343677	T	0.19806	2.12	5.31	3.5	0.40072	.	0.113159	0.64402	D	0.000018	T	0.13884	0.0336	N	0.08118	0	0.58432	D	0.999996	D	0.76494	0.999	D	0.80764	0.994	T	0.12889	-1.0530	10	0.66056	D	0.02	-5.0641	10.0009	0.41929	0.0:0.7753:0.0:0.2247	.	206	P16403	H12_HUMAN	N	206	ENSP00000339566:K206N	ENSP00000339566:K206N	K	-	3	2	HIST1H1C	26164018	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	0.829000	0.27449	1.370000	0.46153	0.655000	0.94253	AAG	HIST1H1C	-	prints_Histone_H5	ENSG00000187837		0.502	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	60	0.00	0	C	NM_005319		26056039	26056039	-1	no_errors	ENST00000343677	ensembl	human	known	69_37n	missense	58	32.56	28	SNP	1.000	A
HOOK1	51361	genome.wustl.edu	37	1	60336717	60336717	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:60336717G>A	ENST00000371208.3	+	21	2208	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.E609K	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	651					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTTCCAGAGTGAATGCAAAGT	0.323																																						dbGAP											0													90.0	92.0	92.0					1																	60336717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1951G>A	1.37:g.60336717G>A	ENSP00000360252:p.Glu651Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin	p.E651K	ENST00000371208.3	37	c.1951	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934265	0.92458	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.19938	2.11;2.11	6.03	6.03	0.97812	.	0.045241	0.85682	D	0.000000	T	0.43545	0.1252	M	0.78637	2.42	0.80722	D	1	P	0.52316	0.952	P	0.57720	0.826	T	0.11470	-1.0586	10	0.15499	T	0.54	.	19.1206	0.93362	0.0:0.0:1.0:0.0	.	651	Q9UJC3	HOOK1_HUMAN	K	651;609	ENSP00000360252:E651K;ENSP00000378928:E609K	ENSP00000360252:E651K	E	+	1	0	HOOK1	60109305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.021000	0.70832	2.861000	0.98227	0.655000	0.94253	GAA	HOOK1	-	pfam_HOOK	ENSG00000134709		0.323	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	27	0.00	0	G	NM_015888		60336717	60336717	+1	no_errors	ENST00000371208	ensembl	human	known	69_37n	missense	14	53.33	16	SNP	1.000	A
HOOK1	51361	genome.wustl.edu	37	1	60336717	60336717	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:60336717G>A	ENST00000371208.3	+	21	2208	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.E609K	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	651					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTTCCAGAGTGAATGCAAAGT	0.323																																						dbGAP											0													90.0	92.0	92.0					1																	60336717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1951G>A	1.37:g.60336717G>A	ENSP00000360252:p.Glu651Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin	p.E651K	ENST00000371208.3	37	c.1951	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934265	0.92458	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.19938	2.11;2.11	6.03	6.03	0.97812	.	0.045241	0.85682	D	0.000000	T	0.43545	0.1252	M	0.78637	2.42	0.80722	D	1	P	0.52316	0.952	P	0.57720	0.826	T	0.11470	-1.0586	10	0.15499	T	0.54	.	19.1206	0.93362	0.0:0.0:1.0:0.0	.	651	Q9UJC3	HOOK1_HUMAN	K	651;609	ENSP00000360252:E651K;ENSP00000378928:E609K	ENSP00000360252:E651K	E	+	1	0	HOOK1	60109305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.021000	0.70832	2.861000	0.98227	0.655000	0.94253	GAA	HOOK1	-	pfam_HOOK	ENSG00000134709		0.323	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	49	0.00	0	G	NM_015888		60336717	60336717	+1	no_errors	ENST00000371208	ensembl	human	known	69_37n	missense	14	53.33	16	SNP	1.000	A
HPS4	89781	genome.wustl.edu	37	22	26868878	26868878	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr22:26868878C>G	ENST00000398145.2	-	5	920	c.304G>C	c.(304-306)Gat>Cat	p.D102H	HPS4_ENST00000398141.1_Missense_Mutation_p.D97H|HPS4_ENST00000336873.5_Missense_Mutation_p.D102H|HPS4_ENST00000402105.3_Missense_Mutation_p.D97H	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	102					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CAGCTGACATCAGGGAGCTCC	0.483									Hermansky-Pudlak syndrome																													dbGAP											0													78.0	79.0	79.0					22																	26868878		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.304G>C	22.37:g.26868878C>G	ENSP00000381213:p.Asp102His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	NULL	p.D97H	ENST00000398145.2	37	c.289	CCDS13835.1	22	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310041	0.60414	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72	5.3	4.29	0.51040	.	0.360726	0.30269	N	0.010009	D	0.94361	0.8187	M	0.76574	2.34	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.977;0.977	D	0.94718	0.7898	10	0.87932	D	0	-24.7066	12.7436	0.57268	0.0:0.9208:0.0:0.0792	.	102;102;97	Q6ICH6;Q9NQG7;Q9NQG7-3	.;HPS4_HUMAN;.	H	102;97;97;102;102;102	ENSP00000381213:D102H;ENSP00000381210:D97H;ENSP00000384185:D97H;ENSP00000338457:D102H;ENSP00000415081:D102H	ENSP00000325840:D102H	D	-	1	0	HPS4	25198878	0.994000	0.37717	0.016000	0.15963	0.994000	0.84299	3.437000	0.52863	1.476000	0.48215	0.563000	0.77884	GAT	HPS4	-	NULL	ENSG00000100099		0.483	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	207	0.00	0	C	NM_022081		26868878	26868878	-1	no_errors	ENST00000398141	ensembl	human	known	69_37n	missense	120	30.64	53	SNP	0.898	G
HPS4	89781	genome.wustl.edu	37	22	26868878	26868878	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr22:26868878C>G	ENST00000398145.2	-	5	920	c.304G>C	c.(304-306)Gat>Cat	p.D102H	HPS4_ENST00000398141.1_Missense_Mutation_p.D97H|HPS4_ENST00000336873.5_Missense_Mutation_p.D102H|HPS4_ENST00000402105.3_Missense_Mutation_p.D97H	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	102					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CAGCTGACATCAGGGAGCTCC	0.483									Hermansky-Pudlak syndrome																													dbGAP											0													78.0	79.0	79.0					22																	26868878		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.304G>C	22.37:g.26868878C>G	ENSP00000381213:p.Asp102His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	NULL	p.D97H	ENST00000398145.2	37	c.289	CCDS13835.1	22	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310041	0.60414	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72	5.3	4.29	0.51040	.	0.360726	0.30269	N	0.010009	D	0.94361	0.8187	M	0.76574	2.34	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.977;0.977	D	0.94718	0.7898	10	0.87932	D	0	-24.7066	12.7436	0.57268	0.0:0.9208:0.0:0.0792	.	102;102;97	Q6ICH6;Q9NQG7;Q9NQG7-3	.;HPS4_HUMAN;.	H	102;97;97;102;102;102	ENSP00000381213:D102H;ENSP00000381210:D97H;ENSP00000384185:D97H;ENSP00000338457:D102H;ENSP00000415081:D102H	ENSP00000325840:D102H	D	-	1	0	HPS4	25198878	0.994000	0.37717	0.016000	0.15963	0.994000	0.84299	3.437000	0.52863	1.476000	0.48215	0.563000	0.77884	GAT	HPS4	-	NULL	ENSG00000100099		0.483	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	139	0.00	0	C	NM_022081		26868878	26868878	-1	no_errors	ENST00000398141	ensembl	human	known	69_37n	missense	120	30.64	53	SNP	0.898	G
HS3ST5	222537	genome.wustl.edu	37	6	114379009	114379009	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:114379009G>A	ENST00000312719.5	-	5	1641	c.453C>T	c.(451-453)atC>atT	p.I151I	RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.I151I|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	151					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TTTCAATTGTGATTTGCTGAG	0.383																																						dbGAP											0													130.0	134.0	133.0					6																	114379009		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.453C>T	6.37:g.114379009G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1J2|Q52LI2|Q8N285	Silent	SNP	pfam_Sulfotransferase_dom	p.I151	ENST00000312719.5	37	c.453	CCDS34517.1	6																																																																																			HS3ST5	-	pfam_Sulfotransferase_dom	ENSG00000249853		0.383	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	599	0.00	0	G	NM_153612		114379009	114379009	-1	no_errors	ENST00000312719	ensembl	human	known	69_37n	silent	287	45.75	242	SNP	1.000	A
HS3ST5	222537	genome.wustl.edu	37	6	114379009	114379009	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:114379009G>A	ENST00000312719.5	-	5	1641	c.453C>T	c.(451-453)atC>atT	p.I151I	RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.I151I|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	151					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TTTCAATTGTGATTTGCTGAG	0.383																																						dbGAP											0													130.0	134.0	133.0					6																	114379009		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.453C>T	6.37:g.114379009G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1J2|Q52LI2|Q8N285	Silent	SNP	pfam_Sulfotransferase_dom	p.I151	ENST00000312719.5	37	c.453	CCDS34517.1	6																																																																																			HS3ST5	-	pfam_Sulfotransferase_dom	ENSG00000249853		0.383	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	415	0.00	0	G	NM_153612		114379009	114379009	-1	no_errors	ENST00000312719	ensembl	human	known	69_37n	silent	287	45.75	242	SNP	1.000	A
IFIT2	3433	genome.wustl.edu	37	10	91066299	91066299	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr10:91066299G>A	ENST00000371826.3	+	2	755	c.586G>A	c.(586-588)Gac>Aac	p.D196N	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	196					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GAACGCCATTGACCCTCTGAG	0.507																																						dbGAP											0													51.0	52.0	51.0					10																	91066299		2016	4198	6214	-	-	-	SO:0001583	missense	0			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.586G>A	10.37:g.91066299G>A	ENSP00000360891:p.Asp196Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T767	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D196N	ENST00000371826.3	37	c.586	CCDS41548.1	10	.	.	.	.	.	.	.	.	.	.	G	6.515	0.463260	0.12402	.	.	ENSG00000119922	ENST00000371826	T	0.37752	1.18	4.58	-2.28	0.06826	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.373122	0.26069	N	0.026532	T	0.18002	0.0432	N	0.25957	0.775	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.19712	-1.0297	10	0.18276	T	0.48	-1.8352	6.7525	0.23495	0.3669:0.1127:0.5204:0.0	.	196	P09913	IFIT2_HUMAN	N	196	ENSP00000360891:D196N	ENSP00000360891:D196N	D	+	1	0	IFIT2	91056279	0.000000	0.05858	0.000000	0.03702	0.411000	0.31082	0.248000	0.18198	-0.402000	0.07633	0.655000	0.94253	GAC	IFIT2	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000119922		0.507	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT2	HGNC	protein_coding	OTTHUMT00000049293.1	205	0.48	1	G	NM_001547		91066299	91066299	+1	no_errors	ENST00000371826	ensembl	human	known	69_37n	missense	194	30.60	86	SNP	0.000	A
IFIT2	3433	genome.wustl.edu	37	10	91066299	91066299	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr10:91066299G>A	ENST00000371826.3	+	2	755	c.586G>A	c.(586-588)Gac>Aac	p.D196N	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	196					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GAACGCCATTGACCCTCTGAG	0.507																																						dbGAP											0													51.0	52.0	51.0					10																	91066299		2016	4198	6214	-	-	-	SO:0001583	missense	0			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.586G>A	10.37:g.91066299G>A	ENSP00000360891:p.Asp196Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T767	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D196N	ENST00000371826.3	37	c.586	CCDS41548.1	10	.	.	.	.	.	.	.	.	.	.	G	6.515	0.463260	0.12402	.	.	ENSG00000119922	ENST00000371826	T	0.37752	1.18	4.58	-2.28	0.06826	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.373122	0.26069	N	0.026532	T	0.18002	0.0432	N	0.25957	0.775	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.19712	-1.0297	10	0.18276	T	0.48	-1.8352	6.7525	0.23495	0.3669:0.1127:0.5204:0.0	.	196	P09913	IFIT2_HUMAN	N	196	ENSP00000360891:D196N	ENSP00000360891:D196N	D	+	1	0	IFIT2	91056279	0.000000	0.05858	0.000000	0.03702	0.411000	0.31082	0.248000	0.18198	-0.402000	0.07633	0.655000	0.94253	GAC	IFIT2	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000119922		0.507	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT2	HGNC	protein_coding	OTTHUMT00000049293.1	195	0.00	0	G	NM_001547		91066299	91066299	+1	no_errors	ENST00000371826	ensembl	human	known	69_37n	missense	194	30.60	86	SNP	0.000	A
IFNA1	3439	genome.wustl.edu	37	9	21441024	21441024	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr9:21441024G>A	ENST00000276927.1	+	1	585	c.518G>A	c.(517-519)aGa>aAa	p.R173K		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	173					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GAAATCATGAGATCCCTCTCT	0.408																																						dbGAP											0													96.0	111.0	106.0					9																	21441024		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS6508.1	9p22	2010-12-10			ENSG00000197919	ENSG00000197919		"""Interferons"""	5417	protein-coding gene	gene with protein product	"""IFN-alpha 1b"", ""interferon alpha 1b"""	147660				1385305	Standard	NM_024013		Approved	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD	uc003zpd.2	P01562	OTTHUMG00000019673	ENST00000276927.1:c.518G>A	9.37:g.21441024G>A	ENSP00000276927:p.Arg173Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.R173K	ENST00000276927.1	37	c.518	CCDS6508.1	9	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758996	0.31137	.	.	ENSG00000197919	ENST00000276927	T	0.04049	3.72	3.17	2.26	0.28386	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.451077	0.24564	N	0.037443	T	0.12433	0.0302	M	0.78049	2.395	0.09310	N	1	P	0.39443	0.674	P	0.51742	0.678	T	0.03684	-1.1013	10	0.42905	T	0.14	.	5.5794	0.17241	0.2648:0.0:0.7352:0.0	.	173	P01562	IFNA1_HUMAN	K	173	ENSP00000276927:R173K	ENSP00000276927:R173K	R	+	2	0	IFNA1	21431024	0.000000	0.05858	0.013000	0.15412	0.302000	0.27658	-0.134000	0.10436	0.671000	0.31185	-0.224000	0.12420	AGA	IFNA1	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta	ENSG00000197919		0.408	IFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA1	HGNC	protein_coding	OTTHUMT00000051902.1	492	0.00	0	G	NM_024013		21441024	21441024	+1	no_errors	ENST00000276927	ensembl	human	known	69_37n	missense	395	27.66	151	SNP	0.008	A
IFNA1	3439	genome.wustl.edu	37	9	21441024	21441024	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr9:21441024G>A	ENST00000276927.1	+	1	585	c.518G>A	c.(517-519)aGa>aAa	p.R173K		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	173					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GAAATCATGAGATCCCTCTCT	0.408																																						dbGAP											0													96.0	111.0	106.0					9																	21441024		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS6508.1	9p22	2010-12-10			ENSG00000197919	ENSG00000197919		"""Interferons"""	5417	protein-coding gene	gene with protein product	"""IFN-alpha 1b"", ""interferon alpha 1b"""	147660				1385305	Standard	NM_024013		Approved	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD	uc003zpd.2	P01562	OTTHUMG00000019673	ENST00000276927.1:c.518G>A	9.37:g.21441024G>A	ENSP00000276927:p.Arg173Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.R173K	ENST00000276927.1	37	c.518	CCDS6508.1	9	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758996	0.31137	.	.	ENSG00000197919	ENST00000276927	T	0.04049	3.72	3.17	2.26	0.28386	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.451077	0.24564	N	0.037443	T	0.12433	0.0302	M	0.78049	2.395	0.09310	N	1	P	0.39443	0.674	P	0.51742	0.678	T	0.03684	-1.1013	10	0.42905	T	0.14	.	5.5794	0.17241	0.2648:0.0:0.7352:0.0	.	173	P01562	IFNA1_HUMAN	K	173	ENSP00000276927:R173K	ENSP00000276927:R173K	R	+	2	0	IFNA1	21431024	0.000000	0.05858	0.013000	0.15412	0.302000	0.27658	-0.134000	0.10436	0.671000	0.31185	-0.224000	0.12420	AGA	IFNA1	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta	ENSG00000197919		0.408	IFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA1	HGNC	protein_coding	OTTHUMT00000051902.1	507	0.00	0	G	NM_024013		21441024	21441024	+1	no_errors	ENST00000276927	ensembl	human	known	69_37n	missense	395	27.66	151	SNP	0.008	A
IL13RA1	3597	genome.wustl.edu	37	X	117895249	117895249	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:117895249C>G	ENST00000371666.3	+	6	892	c.825C>G	c.(823-825)ttC>ttG	p.F275L	IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Missense_Mutation_p.F275L	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	275	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						ATAATGTTTTCTACGTAAGGT	0.289																																						dbGAP											0													97.0	98.0	97.0					X																	117895249		2203	4299	6502	-	-	-	SO:0001583	missense	0			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.825C>G	X.37:g.117895249C>G	ENSP00000360730:p.Phe275Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.F275L	ENST00000371666.3	37	c.825	CCDS14573.1	X	.	.	.	.	.	.	.	.	.	.	C	8.014	0.758060	0.15846	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.90844	-1.91;-2.74	6.14	0.18	0.15068	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.102490	0.06872	N	0.801038	T	0.74207	0.3686	N	0.10707	0.03	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.64045	-0.6499	10	0.02654	T	1	-3.548	2.9491	0.05855	0.4751:0.2971:0.1323:0.0954	.	275;275;275	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	L	275	ENSP00000360730:F275L;ENSP00000360705:F275L	ENSP00000360705:F275L	F	+	3	2	IL13RA1	117779277	0.001000	0.12720	0.001000	0.08648	0.039000	0.13416	-0.612000	0.05616	0.195000	0.20347	0.596000	0.82720	TTC	IL13RA1	-	superfamily_Fibronectin_type3	ENSG00000131724		0.289	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA1	HGNC	protein_coding	OTTHUMT00000058009.1	279	0.00	0	C	NM_001560		117895249	117895249	+1	no_errors	ENST00000371666	ensembl	human	known	69_37n	missense	257	28.61	103	SNP	0.000	G
IL13RA1	3597	genome.wustl.edu	37	X	117895249	117895249	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:117895249C>G	ENST00000371666.3	+	6	892	c.825C>G	c.(823-825)ttC>ttG	p.F275L	IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Missense_Mutation_p.F275L	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	275	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						ATAATGTTTTCTACGTAAGGT	0.289																																						dbGAP											0													97.0	98.0	97.0					X																	117895249		2203	4299	6502	-	-	-	SO:0001583	missense	0			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.825C>G	X.37:g.117895249C>G	ENSP00000360730:p.Phe275Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.F275L	ENST00000371666.3	37	c.825	CCDS14573.1	X	.	.	.	.	.	.	.	.	.	.	C	8.014	0.758060	0.15846	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.90844	-1.91;-2.74	6.14	0.18	0.15068	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.102490	0.06872	N	0.801038	T	0.74207	0.3686	N	0.10707	0.03	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.64045	-0.6499	10	0.02654	T	1	-3.548	2.9491	0.05855	0.4751:0.2971:0.1323:0.0954	.	275;275;275	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	L	275	ENSP00000360730:F275L;ENSP00000360705:F275L	ENSP00000360705:F275L	F	+	3	2	IL13RA1	117779277	0.001000	0.12720	0.001000	0.08648	0.039000	0.13416	-0.612000	0.05616	0.195000	0.20347	0.596000	0.82720	TTC	IL13RA1	-	superfamily_Fibronectin_type3	ENSG00000131724		0.289	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA1	HGNC	protein_coding	OTTHUMT00000058009.1	291	0.00	0	C	NM_001560		117895249	117895249	+1	no_errors	ENST00000371666	ensembl	human	known	69_37n	missense	257	28.61	103	SNP	0.000	G
ILDR1	286676	genome.wustl.edu	37	3	121720279	121720279	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr3:121720279G>A	ENST00000344209.5	-	5	648	c.522C>T	c.(520-522)atC>atT	p.I174I	ILDR1_ENST00000273691.3_Silent_p.I174I|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.I186I	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	174					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTCCCAGGATGATGAAGATCA	0.542																																						dbGAP											0													60.0	51.0	54.0					3																	121720279		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.522C>T	3.37:g.121720279G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZP61|Q7Z578	Silent	SNP	pfam_LISCH7,smart_Ig_sub	p.I174	ENST00000344209.5	37	c.522	CCDS56271.1	3																																																																																			ILDR1	-	pfam_LISCH7	ENSG00000145103		0.542	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ILDR1	HGNC	protein_coding	OTTHUMT00000355666.1	146	0.00	0	G	NM_175924		121720279	121720279	-1	no_errors	ENST00000344209	ensembl	human	known	69_37n	silent	50	35.06	27	SNP	0.999	A
ILDR1	286676	genome.wustl.edu	37	3	121720279	121720279	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr3:121720279G>A	ENST00000344209.5	-	5	648	c.522C>T	c.(520-522)atC>atT	p.I174I	ILDR1_ENST00000273691.3_Silent_p.I174I|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.I186I	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	174					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTCCCAGGATGATGAAGATCA	0.542																																						dbGAP											0													60.0	51.0	54.0					3																	121720279		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.522C>T	3.37:g.121720279G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZP61|Q7Z578	Silent	SNP	pfam_LISCH7,smart_Ig_sub	p.I174	ENST00000344209.5	37	c.522	CCDS56271.1	3																																																																																			ILDR1	-	pfam_LISCH7	ENSG00000145103		0.542	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ILDR1	HGNC	protein_coding	OTTHUMT00000355666.1	50	0.00	0	G	NM_175924		121720279	121720279	-1	no_errors	ENST00000344209	ensembl	human	known	69_37n	silent	50	35.06	27	SNP	0.999	A
INPP5B	3633	genome.wustl.edu	37	1	38345821	38345821	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:38345821C>G	ENST00000373026.1	-	14	1717	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q	INPP5B_ENST00000373023.2_Missense_Mutation_p.E573Q|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Missense_Mutation_p.E493Q|INPP5B_ENST00000373027.1_Missense_Mutation_p.E329Q			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	573	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCTCACCCTCTGTGAAGCCT	0.438																																						dbGAP											0													124.0	117.0	119.0					1																	38345821		1843	4098	5941	-	-	-	SO:0001583	missense	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1717G>C	1.37:g.38345821C>G	ENSP00000362117:p.Glu573Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E573Q	ENST00000373026.1	37	c.1717		1	.	.	.	.	.	.	.	.	.	.	C	34	5.336718	0.95758	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	5.83	5.83	0.93111	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.99299	0.9755	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98455	1.0593	10	0.87932	D	0	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	573;493	P32019;P32019-2	I5P2_HUMAN;.	Q	329;573;573;573;493	ENSP00000362118:E329Q;ENSP00000362114:E573Q;ENSP00000362117:E573Q;ENSP00000362115:E493Q	ENSP00000362114:E573Q	E	-	1	0	INPP5B	38118408	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.642000	0.83385	2.769000	0.95229	0.655000	0.94253	GAG	INPP5B	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000204084		0.438	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	128	0.00	0	C	NM_005540		38345821	38345821	-1	no_errors	ENST00000373023	ensembl	human	known	69_37n	missense	65	44.44	52	SNP	1.000	G
INPP5B	3633	genome.wustl.edu	37	1	38345821	38345821	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:38345821C>G	ENST00000373026.1	-	14	1717	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q	INPP5B_ENST00000373023.2_Missense_Mutation_p.E573Q|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Missense_Mutation_p.E493Q|INPP5B_ENST00000373027.1_Missense_Mutation_p.E329Q			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	573	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCTCACCCTCTGTGAAGCCT	0.438																																						dbGAP											0													124.0	117.0	119.0					1																	38345821		1843	4098	5941	-	-	-	SO:0001583	missense	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1717G>C	1.37:g.38345821C>G	ENSP00000362117:p.Glu573Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E573Q	ENST00000373026.1	37	c.1717		1	.	.	.	.	.	.	.	.	.	.	C	34	5.336718	0.95758	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	5.83	5.83	0.93111	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.99299	0.9755	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98455	1.0593	10	0.87932	D	0	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	573;493	P32019;P32019-2	I5P2_HUMAN;.	Q	329;573;573;573;493	ENSP00000362118:E329Q;ENSP00000362114:E573Q;ENSP00000362117:E573Q;ENSP00000362115:E493Q	ENSP00000362114:E573Q	E	-	1	0	INPP5B	38118408	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.642000	0.83385	2.769000	0.95229	0.655000	0.94253	GAG	INPP5B	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000204084		0.438	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	145	0.00	0	C	NM_005540		38345821	38345821	-1	no_errors	ENST00000373023	ensembl	human	known	69_37n	missense	65	44.44	52	SNP	1.000	G
IRF2BP1	26145	genome.wustl.edu	37	19	46388255	46388255	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:46388255C>T	ENST00000302165.3	-	1	1121	c.778G>A	c.(778-780)Gat>Aat	p.D260N		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GCAGTAGCATCGAAGGCGAAC	0.617																																						dbGAP											0													70.0	60.0	64.0					19																	46388255		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.778G>A	19.37:g.46388255C>T	ENSP00000307265:p.Asp260Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.D260N	ENST00000302165.3	37	c.778	CCDS12678.1	19	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273765	0.80580	.	.	ENSG00000170604	ENST00000302165	T	0.18338	2.22	4.43	4.43	0.53597	.	0.078815	0.48286	U	0.000195	T	0.30603	0.0770	L	0.43923	1.385	0.51767	D	0.999939	D	0.89917	1.0	P	0.61658	0.892	T	0.03259	-1.1055	10	0.87932	D	0	.	14.5697	0.68203	0.0:1.0:0.0:0.0	.	260	Q8IU81	I2BP1_HUMAN	N	260	ENSP00000307265:D260N	ENSP00000307265:D260N	D	-	1	0	IRF2BP1	51080095	1.000000	0.71417	0.952000	0.39060	0.693000	0.40251	7.198000	0.77823	2.271000	0.75665	0.561000	0.74099	GAT	IRF2BP1	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000170604		0.617	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BP1	HGNC	protein_coding	OTTHUMT00000461683.1	14	0.00	0	C	NM_015649		46388255	46388255	-1	no_errors	ENST00000302165	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	T
IRF2BP1	26145	genome.wustl.edu	37	19	46388255	46388255	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:46388255C>T	ENST00000302165.3	-	1	1121	c.778G>A	c.(778-780)Gat>Aat	p.D260N		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GCAGTAGCATCGAAGGCGAAC	0.617																																						dbGAP											0													70.0	60.0	64.0					19																	46388255		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.778G>A	19.37:g.46388255C>T	ENSP00000307265:p.Asp260Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.D260N	ENST00000302165.3	37	c.778	CCDS12678.1	19	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273765	0.80580	.	.	ENSG00000170604	ENST00000302165	T	0.18338	2.22	4.43	4.43	0.53597	.	0.078815	0.48286	U	0.000195	T	0.30603	0.0770	L	0.43923	1.385	0.51767	D	0.999939	D	0.89917	1.0	P	0.61658	0.892	T	0.03259	-1.1055	10	0.87932	D	0	.	14.5697	0.68203	0.0:1.0:0.0:0.0	.	260	Q8IU81	I2BP1_HUMAN	N	260	ENSP00000307265:D260N	ENSP00000307265:D260N	D	-	1	0	IRF2BP1	51080095	1.000000	0.71417	0.952000	0.39060	0.693000	0.40251	7.198000	0.77823	2.271000	0.75665	0.561000	0.74099	GAT	IRF2BP1	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000170604		0.617	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BP1	HGNC	protein_coding	OTTHUMT00000461683.1	28	0.00	0	C	NM_015649		46388255	46388255	-1	no_errors	ENST00000302165	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	T
ITGB6	3694	genome.wustl.edu	37	2	160994606	160994606	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:160994606C>G	ENST00000283249.2	-	9	1449	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N	ITGB6_ENST00000409872.1_Missense_Mutation_p.K404N|ITGB6_ENST00000409967.2_Missense_Mutation_p.K404N|ITGB6_ENST00000428609.2_Missense_Mutation_p.K362N	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	404					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GAGAGCATTTCTTTTGGTGTT	0.448																																						dbGAP											0													269.0	230.0	243.0					2																	160994606		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1212G>C	2.37:g.160994606C>G	ENSP00000283249:p.Lys404Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.K404N	ENST00000283249.2	37	c.1212	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404752	0.62288	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.3	4.19	0.49359	Integrin beta subunit, N-terminal (2);	0.052287	0.85682	D	0.000000	T	0.61148	0.2324	N	0.26092	0.79	0.39204	D	0.963209	D;D	0.61697	0.99;0.99	D;D	0.64237	0.923;0.923	T	0.53753	-0.8394	10	0.10636	T	0.68	.	12.6606	0.56811	0.0:0.8865:0.0:0.1135	.	362;404	E9PEE8;P18564	.;ITB6_HUMAN	N	404;362;404;404	ENSP00000283249:K404N;ENSP00000408024:K362N;ENSP00000386828:K404N;ENSP00000386367:K404N	ENSP00000283249:K404N	K	-	3	2	ITGB6	160702852	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.133000	0.31430	2.648000	0.89879	0.650000	0.86243	AAG	ITGB6	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000115221		0.448	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	231	0.00	0	C	NM_000888		160994606	160994606	-1	no_errors	ENST00000283249	ensembl	human	known	69_37n	missense	144	33.94	74	SNP	1.000	G
ITGB6	3694	genome.wustl.edu	37	2	160994606	160994606	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:160994606C>G	ENST00000283249.2	-	9	1449	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N	ITGB6_ENST00000409872.1_Missense_Mutation_p.K404N|ITGB6_ENST00000409967.2_Missense_Mutation_p.K404N|ITGB6_ENST00000428609.2_Missense_Mutation_p.K362N	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	404					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GAGAGCATTTCTTTTGGTGTT	0.448																																						dbGAP											0													269.0	230.0	243.0					2																	160994606		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1212G>C	2.37:g.160994606C>G	ENSP00000283249:p.Lys404Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.K404N	ENST00000283249.2	37	c.1212	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404752	0.62288	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.3	4.19	0.49359	Integrin beta subunit, N-terminal (2);	0.052287	0.85682	D	0.000000	T	0.61148	0.2324	N	0.26092	0.79	0.39204	D	0.963209	D;D	0.61697	0.99;0.99	D;D	0.64237	0.923;0.923	T	0.53753	-0.8394	10	0.10636	T	0.68	.	12.6606	0.56811	0.0:0.8865:0.0:0.1135	.	362;404	E9PEE8;P18564	.;ITB6_HUMAN	N	404;362;404;404	ENSP00000283249:K404N;ENSP00000408024:K362N;ENSP00000386828:K404N;ENSP00000386367:K404N	ENSP00000283249:K404N	K	-	3	2	ITGB6	160702852	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.133000	0.31430	2.648000	0.89879	0.650000	0.86243	AAG	ITGB6	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000115221		0.448	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	202	0.00	0	C	NM_000888		160994606	160994606	-1	no_errors	ENST00000283249	ensembl	human	known	69_37n	missense	144	33.94	74	SNP	1.000	G
JUP	3728	genome.wustl.edu	37	17	39919553	39919553	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:39919553C>T	ENST00000393931.3	-	8	1297	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	JUP_ENST00000393930.1_Silent_p.L393L|JUP_ENST00000310706.5_Silent_p.L393L|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	393					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCAGAATCTTCAGCACACTCT	0.572																																					Colon(16;42 520 6044 17852 28530)	dbGAP											0													88.0	78.0	81.0					17																	39919553		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1179G>A	17.37:g.39919553C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo	p.L393	ENST00000393931.3	37	c.1179	CCDS11407.1	17																																																																																			JUP	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000173801		0.572	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257406.1	145	0.00	0	C			39919553	39919553	-1	no_errors	ENST00000310706	ensembl	human	known	69_37n	silent	133	13.64	21	SNP	1.000	T
JUP	3728	genome.wustl.edu	37	17	39919553	39919553	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:39919553C>T	ENST00000393931.3	-	8	1297	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	JUP_ENST00000393930.1_Silent_p.L393L|JUP_ENST00000310706.5_Silent_p.L393L|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	393					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCAGAATCTTCAGCACACTCT	0.572																																					Colon(16;42 520 6044 17852 28530)	dbGAP											0													88.0	78.0	81.0					17																	39919553		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1179G>A	17.37:g.39919553C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo	p.L393	ENST00000393931.3	37	c.1179	CCDS11407.1	17																																																																																			JUP	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000173801		0.572	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257406.1	31	0.00	0	C			39919553	39919553	-1	no_errors	ENST00000310706	ensembl	human	known	69_37n	silent	133	13.64	21	SNP	1.000	T
KCNJ2	3759	genome.wustl.edu	37	17	68171693	68171693	+	Missense_Mutation	SNP	C	C	G	rs573888708		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:68171693C>G	ENST00000243457.3	+	2	896	c.513C>G	c.(511-513)atC>atG	p.I171M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.I171M	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	171					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GCTGCATCATCGATGCTTTCA	0.483																																						dbGAP											0													171.0	153.0	159.0					17																	68171693		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.513C>G	17.37:g.68171693C>G	ENSP00000243457:p.Ile171Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O15110|P48049	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1	p.I171M	ENST00000243457.3	37	c.513	CCDS11688.1	17	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657323	0.29425	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95482	-3.72;-3.72	5.96	-10.9	0.00192	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.95778	0.8626	M	0.81239	2.535	0.35568	D	0.805236	D	0.76494	0.999	D	0.83275	0.996	D	0.95721	0.8766	9	.	.	.	.	10.2956	0.43623	0.1409:0.3319:0.0:0.5271	.	171	P63252	IRK2_HUMAN	M	171	ENSP00000441848:I171M;ENSP00000243457:I171M	.	I	+	3	3	KCNJ2	65683288	0.025000	0.19082	0.286000	0.24833	0.809000	0.45718	-0.794000	0.04584	-1.969000	0.01005	-2.326000	0.00250	ATC	KCNJ2	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000123700		0.483	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	269	0.00	0	C	NM_000891		68171693	68171693	+1	no_errors	ENST00000243457	ensembl	human	known	69_37n	missense	85	30.65	38	SNP	0.060	G
KCNJ2	3759	genome.wustl.edu	37	17	68171693	68171693	+	Missense_Mutation	SNP	C	C	G	rs573888708		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:68171693C>G	ENST00000243457.3	+	2	896	c.513C>G	c.(511-513)atC>atG	p.I171M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.I171M	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	171					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GCTGCATCATCGATGCTTTCA	0.483																																						dbGAP											0													171.0	153.0	159.0					17																	68171693		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.513C>G	17.37:g.68171693C>G	ENSP00000243457:p.Ile171Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O15110|P48049	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1	p.I171M	ENST00000243457.3	37	c.513	CCDS11688.1	17	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657323	0.29425	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95482	-3.72;-3.72	5.96	-10.9	0.00192	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.95778	0.8626	M	0.81239	2.535	0.35568	D	0.805236	D	0.76494	0.999	D	0.83275	0.996	D	0.95721	0.8766	9	.	.	.	.	10.2956	0.43623	0.1409:0.3319:0.0:0.5271	.	171	P63252	IRK2_HUMAN	M	171	ENSP00000441848:I171M;ENSP00000243457:I171M	.	I	+	3	3	KCNJ2	65683288	0.025000	0.19082	0.286000	0.24833	0.809000	0.45718	-0.794000	0.04584	-1.969000	0.01005	-2.326000	0.00250	ATC	KCNJ2	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000123700		0.483	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	164	0.00	0	C	NM_000891		68171693	68171693	+1	no_errors	ENST00000243457	ensembl	human	known	69_37n	missense	85	30.65	38	SNP	0.060	G
KIAA0319	9856	genome.wustl.edu	37	6	24596268	24596268	+	Missense_Mutation	SNP	C	C	G	rs370950095		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:24596268C>G	ENST00000378214.3	-	3	1158	c.634G>C	c.(634-636)Gac>Cac	p.D212H	KIAA0319_ENST00000535378.1_Missense_Mutation_p.D203H|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D212H|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D167H|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D212H	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	212					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGCTCAGGGTCCTGCTGCGTC	0.607																																						dbGAP											0													44.0	39.0	41.0					6																	24596268		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.634G>C	6.37:g.24596268C>G	ENSP00000367459:p.Asp212His	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.D212H	ENST00000378214.3	37	c.634	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753831	0.31046	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23	4.03	3.05	0.35203	.	1.257560	0.05550	N	0.567218	T	0.04137	0.0115	L	0.29908	0.895	0.09310	N	1	P;P;P	0.48503	0.755;0.911;0.855	B;P;B	0.47941	0.444;0.562;0.359	T	0.33214	-0.9877	10	0.62326	D	0.03	-6.7152	5.8307	0.18579	0.1961:0.6869:0.0:0.1169	.	212;203;212	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	H	212;203;167;212;212	ENSP00000439700:D212H;ENSP00000442403:D203H;ENSP00000401086:D167H;ENSP00000367459:D212H;ENSP00000437656:D212H	ENSP00000367459:D212H	D	-	1	0	KIAA0319	24704247	0.000000	0.05858	0.735000	0.30896	0.167000	0.22549	0.199000	0.17237	2.054000	0.61138	0.609000	0.83330	GAC	KIAA0319	-	NULL	ENSG00000137261		0.607	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	194	0.00	0	C	NM_014809		24596268	24596268	-1	no_errors	ENST00000378214	ensembl	human	known	69_37n	missense	96	31.91	45	SNP	0.169	G
KIAA0319	9856	genome.wustl.edu	37	6	24596268	24596268	+	Missense_Mutation	SNP	C	C	G	rs370950095		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:24596268C>G	ENST00000378214.3	-	3	1158	c.634G>C	c.(634-636)Gac>Cac	p.D212H	KIAA0319_ENST00000535378.1_Missense_Mutation_p.D203H|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D212H|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D167H|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D212H	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	212					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGCTCAGGGTCCTGCTGCGTC	0.607																																						dbGAP											0													44.0	39.0	41.0					6																	24596268		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.634G>C	6.37:g.24596268C>G	ENSP00000367459:p.Asp212His	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.D212H	ENST00000378214.3	37	c.634	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753831	0.31046	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23	4.03	3.05	0.35203	.	1.257560	0.05550	N	0.567218	T	0.04137	0.0115	L	0.29908	0.895	0.09310	N	1	P;P;P	0.48503	0.755;0.911;0.855	B;P;B	0.47941	0.444;0.562;0.359	T	0.33214	-0.9877	10	0.62326	D	0.03	-6.7152	5.8307	0.18579	0.1961:0.6869:0.0:0.1169	.	212;203;212	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	H	212;203;167;212;212	ENSP00000439700:D212H;ENSP00000442403:D203H;ENSP00000401086:D167H;ENSP00000367459:D212H;ENSP00000437656:D212H	ENSP00000367459:D212H	D	-	1	0	KIAA0319	24704247	0.000000	0.05858	0.735000	0.30896	0.167000	0.22549	0.199000	0.17237	2.054000	0.61138	0.609000	0.83330	GAC	KIAA0319	-	NULL	ENSG00000137261		0.607	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	98	0.00	0	C	NM_014809		24596268	24596268	-1	no_errors	ENST00000378214	ensembl	human	known	69_37n	missense	96	31.91	45	SNP	0.169	G
KIAA0408	9729	genome.wustl.edu	37	6	127771455	127771455	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:127771455C>T	ENST00000483725.3	-	3	514	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	60										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTAGCACTTTCATTGATATTG	0.338																																						dbGAP											0													66.0	68.0	67.0					6																	127771455		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.178G>A	6.37:g.127771455C>T	ENSP00000435150:p.Glu60Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	NULL	p.E60K	ENST00000483725.3	37	c.178	CCDS34531.1	6	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306519	0.40795	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.52295	1.33;0.67	5.7	4.82	0.62117	.	0.331689	0.15947	U	0.236932	T	0.35885	0.0947	L	0.56769	1.78	0.09310	N	1	P	0.45531	0.86	P	0.47075	0.536	T	0.22452	-1.0216	10	0.56958	D	0.05	-13.959	11.0066	0.47637	0.0:0.7977:0.1309:0.0714	.	60	Q6ZU52	K0408_HUMAN	K	60;72	ENSP00000435150:E60K;ENSP00000434384:E72K	ENSP00000435150:E60K	E	-	1	0	KIAA0408	127813148	0.004000	0.15560	0.383000	0.26132	0.134000	0.20937	0.893000	0.28336	1.387000	0.46486	-0.182000	0.12963	GAA	KIAA0408	-	NULL	ENSG00000189367		0.338	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	HGNC	protein_coding	OTTHUMT00000042145.3	125	0.00	0	C	NM_014702		127771455	127771455	-1	no_errors	ENST00000483725	ensembl	human	novel	69_37n	missense	138	29.95	59	SNP	0.204	T
KIAA0408	9729	genome.wustl.edu	37	6	127771455	127771455	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:127771455C>T	ENST00000483725.3	-	3	514	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	60										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTAGCACTTTCATTGATATTG	0.338																																						dbGAP											0													66.0	68.0	67.0					6																	127771455		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.178G>A	6.37:g.127771455C>T	ENSP00000435150:p.Glu60Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	NULL	p.E60K	ENST00000483725.3	37	c.178	CCDS34531.1	6	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306519	0.40795	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.52295	1.33;0.67	5.7	4.82	0.62117	.	0.331689	0.15947	U	0.236932	T	0.35885	0.0947	L	0.56769	1.78	0.09310	N	1	P	0.45531	0.86	P	0.47075	0.536	T	0.22452	-1.0216	10	0.56958	D	0.05	-13.959	11.0066	0.47637	0.0:0.7977:0.1309:0.0714	.	60	Q6ZU52	K0408_HUMAN	K	60;72	ENSP00000435150:E60K;ENSP00000434384:E72K	ENSP00000435150:E60K	E	-	1	0	KIAA0408	127813148	0.004000	0.15560	0.383000	0.26132	0.134000	0.20937	0.893000	0.28336	1.387000	0.46486	-0.182000	0.12963	GAA	KIAA0408	-	NULL	ENSG00000189367		0.338	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	HGNC	protein_coding	OTTHUMT00000042145.3	134	0.00	0	C	NM_014702		127771455	127771455	-1	no_errors	ENST00000483725	ensembl	human	novel	69_37n	missense	138	29.95	59	SNP	0.204	T
KIAA0753	9851	genome.wustl.edu	37	17	6515265	6515265	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:6515265C>G	ENST00000361413.3	-	8	1877	c.1519G>C	c.(1519-1521)Gat>Cat	p.D507H	KIAA0753_ENST00000542606.1_Missense_Mutation_p.D208H|KIAA0753_ENST00000589033.1_Intron|KIAA0753_ENST00000572370.1_Missense_Mutation_p.D208H	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	507						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCCAGAGTATCTTTCTTCCTA	0.433																																						dbGAP											0													237.0	224.0	228.0					17																	6515265		1886	4113	5999	-	-	-	SO:0001583	missense	0				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1519G>C	17.37:g.6515265C>G	ENSP00000355250:p.Asp507His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	NULL	p.D507H	ENST00000361413.3	37	c.1519	CCDS42247.1	17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142680	0.77888	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	T;T	0.09723	2.95;2.95	4.69	3.72	0.42706	.	0.568362	0.19804	N	0.105693	T	0.22126	0.0533	M	0.62723	1.935	0.80722	D	1	D	0.59767	0.986	P	0.57720	0.826	T	0.00800	-1.1561	10	0.66056	D	0.02	-9.784	8.7185	0.34425	0.0:0.8995:0.0:0.1005	.	507	Q2KHM9	K0753_HUMAN	H	507;208	ENSP00000355250:D507H;ENSP00000444634:D208H	ENSP00000355250:D507H	D	-	1	0	KIAA0753	6455989	0.996000	0.38824	0.944000	0.38274	0.641000	0.38312	2.351000	0.44071	1.579000	0.49836	0.655000	0.94253	GAT	KIAA0753	-	NULL	ENSG00000198920		0.433	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3	377	0.26	1	C	NM_014804		6515265	6515265	-1	no_errors	ENST00000361413	ensembl	human	known	69_37n	missense	179	43.35	137	SNP	0.958	G
KIAA0753	9851	genome.wustl.edu	37	17	6515265	6515265	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:6515265C>G	ENST00000361413.3	-	8	1877	c.1519G>C	c.(1519-1521)Gat>Cat	p.D507H	KIAA0753_ENST00000542606.1_Missense_Mutation_p.D208H|KIAA0753_ENST00000589033.1_Intron|KIAA0753_ENST00000572370.1_Missense_Mutation_p.D208H	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	507						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCCAGAGTATCTTTCTTCCTA	0.433																																						dbGAP											0													237.0	224.0	228.0					17																	6515265		1886	4113	5999	-	-	-	SO:0001583	missense	0				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1519G>C	17.37:g.6515265C>G	ENSP00000355250:p.Asp507His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	NULL	p.D507H	ENST00000361413.3	37	c.1519	CCDS42247.1	17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142680	0.77888	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	T;T	0.09723	2.95;2.95	4.69	3.72	0.42706	.	0.568362	0.19804	N	0.105693	T	0.22126	0.0533	M	0.62723	1.935	0.80722	D	1	D	0.59767	0.986	P	0.57720	0.826	T	0.00800	-1.1561	10	0.66056	D	0.02	-9.784	8.7185	0.34425	0.0:0.8995:0.0:0.1005	.	507	Q2KHM9	K0753_HUMAN	H	507;208	ENSP00000355250:D507H;ENSP00000444634:D208H	ENSP00000355250:D507H	D	-	1	0	KIAA0753	6455989	0.996000	0.38824	0.944000	0.38274	0.641000	0.38312	2.351000	0.44071	1.579000	0.49836	0.655000	0.94253	GAT	KIAA0753	-	NULL	ENSG00000198920		0.433	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3	265	0.00	0	C	NM_014804		6515265	6515265	-1	no_errors	ENST00000361413	ensembl	human	known	69_37n	missense	179	43.35	137	SNP	0.958	G
KIAA1109	84162	genome.wustl.edu	37	4	123239318	123239318	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:123239318G>C	ENST00000264501.4	+	63	11060	c.10687G>C	c.(10687-10689)Gaa>Caa	p.E3563Q	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E3563Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3563Q			Q2LD37	K1109_HUMAN	KIAA1109	3563					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGGTGCAAGTGAAGGAACCAT	0.333																																						dbGAP											0													104.0	99.0	100.0					4																	123239318		1840	4091	5931	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10687G>C	4.37:g.123239318G>C	ENSP00000264501:p.Glu3563Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.E3563Q	ENST00000264501.4	37	c.10687	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.139624|4.139624	0.77775|0.77775	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707|ENST00000419325	T;T;T;T|.	0.32515|.	2.51;2.51;1.93;1.45|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.55178|.	0.1904|.	L|L	0.28274|0.28274	0.84|0.84	0.53688|0.53688	D|D	0.999978|0.999978	P;P|.	0.47910|.	0.479;0.902|.	B;P|.	0.45377|.	0.244;0.478|.	T|.	0.51356|.	-0.8716|.	10|.	0.19147|.	T|.	0.46|.	.|.	16.6732|16.6732	0.85271|0.85271	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3563;3563|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	Q|S	3563;3563;3563;246|1520	ENSP00000264501:E3563Q;ENSP00000373390:E3563Q;ENSP00000389925:E3563Q;ENSP00000410874:E246Q|.	ENSP00000264501:E3563Q|.	E|X	+|+	1|2	0|2	KIAA1109|KIAA1109	123458768|123458768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.787000|9.787000	0.99055|0.99055	2.372000|2.372000	0.80975|0.80975	0.650000|0.650000	0.86243|0.86243	GAA|TGA	KIAA1109	-	NULL	ENSG00000138688		0.333	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	154	0.00	0	G	NM_020797		123239318	123239318	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	184	34.29	96	SNP	1.000	C
KIAA1109	84162	genome.wustl.edu	37	4	123239318	123239318	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:123239318G>C	ENST00000264501.4	+	63	11060	c.10687G>C	c.(10687-10689)Gaa>Caa	p.E3563Q	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E3563Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3563Q			Q2LD37	K1109_HUMAN	KIAA1109	3563					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGGTGCAAGTGAAGGAACCAT	0.333																																						dbGAP											0													104.0	99.0	100.0					4																	123239318		1840	4091	5931	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10687G>C	4.37:g.123239318G>C	ENSP00000264501:p.Glu3563Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.E3563Q	ENST00000264501.4	37	c.10687	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.139624|4.139624	0.77775|0.77775	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707|ENST00000419325	T;T;T;T|.	0.32515|.	2.51;2.51;1.93;1.45|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.55178|.	0.1904|.	L|L	0.28274|0.28274	0.84|0.84	0.53688|0.53688	D|D	0.999978|0.999978	P;P|.	0.47910|.	0.479;0.902|.	B;P|.	0.45377|.	0.244;0.478|.	T|.	0.51356|.	-0.8716|.	10|.	0.19147|.	T|.	0.46|.	.|.	16.6732|16.6732	0.85271|0.85271	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3563;3563|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	Q|S	3563;3563;3563;246|1520	ENSP00000264501:E3563Q;ENSP00000373390:E3563Q;ENSP00000389925:E3563Q;ENSP00000410874:E246Q|.	ENSP00000264501:E3563Q|.	E|X	+|+	1|2	0|2	KIAA1109|KIAA1109	123458768|123458768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.787000|9.787000	0.99055|0.99055	2.372000|2.372000	0.80975|0.80975	0.650000|0.650000	0.86243|0.86243	GAA|TGA	KIAA1109	-	NULL	ENSG00000138688		0.333	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	254	0.00	0	G	NM_020797		123239318	123239318	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	184	34.29	96	SNP	1.000	C
KIAA2022	340533	genome.wustl.edu	37	X	73960911	73960911	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:73960911C>T	ENST00000055682.6	-	3	4092	c.3481G>A	c.(3481-3483)Gat>Aat	p.D1161N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1161					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCAGATGGATCATTAAATGTT	0.383																																						dbGAP											0													96.0	91.0	93.0					X																	73960911		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3481G>A	X.37:g.73960911C>T	ENSP00000055682:p.Asp1161Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.D1161N	ENST00000055682.6	37	c.3481	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	c	13.77	2.336967	0.41398	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.28895	1.59;1.59	5.27	4.39	0.52855	.	0.506657	0.20782	N	0.085774	T	0.22437	0.0541	N	0.19112	0.55	0.26034	N	0.981701	B	0.30361	0.277	B	0.27380	0.079	T	0.14282	-1.0478	10	0.72032	D	0.01	-3.5229	15.0297	0.71696	0.0:0.8609:0.1391:0.0	.	1161	Q5QGS0	K2022_HUMAN	N	1161	ENSP00000362567:D1161N;ENSP00000055682:D1161N	ENSP00000055682:D1161N	D	-	1	0	KIAA2022	73877636	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.017000	0.49615	0.976000	0.38417	0.597000	0.82753	GAT	KIAA2022	-	NULL	ENSG00000050030		0.383	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	222	0.00	0	C	NM_001008537		73960911	73960911	-1	no_errors	ENST00000055682	ensembl	human	known	69_37n	missense	281	36.20	160	SNP	1.000	T
KIAA2022	340533	genome.wustl.edu	37	X	73960911	73960911	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:73960911C>T	ENST00000055682.6	-	3	4092	c.3481G>A	c.(3481-3483)Gat>Aat	p.D1161N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1161					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCAGATGGATCATTAAATGTT	0.383																																						dbGAP											0													96.0	91.0	93.0					X																	73960911		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3481G>A	X.37:g.73960911C>T	ENSP00000055682:p.Asp1161Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.D1161N	ENST00000055682.6	37	c.3481	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	c	13.77	2.336967	0.41398	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.28895	1.59;1.59	5.27	4.39	0.52855	.	0.506657	0.20782	N	0.085774	T	0.22437	0.0541	N	0.19112	0.55	0.26034	N	0.981701	B	0.30361	0.277	B	0.27380	0.079	T	0.14282	-1.0478	10	0.72032	D	0.01	-3.5229	15.0297	0.71696	0.0:0.8609:0.1391:0.0	.	1161	Q5QGS0	K2022_HUMAN	N	1161	ENSP00000362567:D1161N;ENSP00000055682:D1161N	ENSP00000055682:D1161N	D	-	1	0	KIAA2022	73877636	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.017000	0.49615	0.976000	0.38417	0.597000	0.82753	GAT	KIAA2022	-	NULL	ENSG00000050030		0.383	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	441	0.00	0	C	NM_001008537		73960911	73960911	-1	no_errors	ENST00000055682	ensembl	human	known	69_37n	missense	281	36.20	160	SNP	1.000	T
KIF11	3832	genome.wustl.edu	37	10	94366119	94366119	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr10:94366119G>A	ENST00000260731.3	+	2	265	c.175G>A	c.(175-177)Gac>Aac	p.D59N		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	59	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGATTGGCTGACAAGAGCTC	0.343																																					Colon(47;212 1003 2764 4062 8431)	dbGAP											0													101.0	98.0	99.0					10																	94366119		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.175G>A	10.37:g.94366119G>A	ENSP00000260731:p.Asp59Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D59N	ENST00000260731.3	37	c.175	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.114203	0.94339	.	.	ENSG00000138160	ENST00000260731	D	0.85629	-2.01	5.94	5.94	0.96194	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	N	0.04787	-0.16	0.80722	D	1	P	0.47302	0.893	P	0.45998	0.5	T	0.74009	-0.3802	10	0.12103	T	0.63	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	59	P52732	KIF11_HUMAN	N	59	ENSP00000260731:D59N	ENSP00000260731:D59N	D	+	1	0	KIF11	94356099	1.000000	0.71417	0.961000	0.40146	0.982000	0.71751	8.615000	0.90920	2.816000	0.96949	0.561000	0.74099	GAC	KIF11	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000138160		0.343	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	69	0.00	0	G	NM_004523		94366119	94366119	+1	no_errors	ENST00000260731	ensembl	human	known	69_37n	missense	73	31.78	34	SNP	1.000	A
KIF11	3832	genome.wustl.edu	37	10	94366119	94366119	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr10:94366119G>A	ENST00000260731.3	+	2	265	c.175G>A	c.(175-177)Gac>Aac	p.D59N		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	59	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGATTGGCTGACAAGAGCTC	0.343																																					Colon(47;212 1003 2764 4062 8431)	dbGAP											0													101.0	98.0	99.0					10																	94366119		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.175G>A	10.37:g.94366119G>A	ENSP00000260731:p.Asp59Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D59N	ENST00000260731.3	37	c.175	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.114203	0.94339	.	.	ENSG00000138160	ENST00000260731	D	0.85629	-2.01	5.94	5.94	0.96194	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	N	0.04787	-0.16	0.80722	D	1	P	0.47302	0.893	P	0.45998	0.5	T	0.74009	-0.3802	10	0.12103	T	0.63	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	59	P52732	KIF11_HUMAN	N	59	ENSP00000260731:D59N	ENSP00000260731:D59N	D	+	1	0	KIF11	94356099	1.000000	0.71417	0.961000	0.40146	0.982000	0.71751	8.615000	0.90920	2.816000	0.96949	0.561000	0.74099	GAC	KIF11	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000138160		0.343	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	66	0.00	0	G	NM_004523		94366119	94366119	+1	no_errors	ENST00000260731	ensembl	human	known	69_37n	missense	73	31.78	34	SNP	1.000	A
KIF13A	63971	genome.wustl.edu	37	6	17797021	17797021	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:17797021G>A	ENST00000259711.6	-	23	2926	c.2821C>T	c.(2821-2823)Ctg>Ttg	p.L941L	KIF13A_ENST00000378814.5_Silent_p.L941L|KIF13A_ENST00000378816.5_Silent_p.L941L|KIF13A_ENST00000378843.2_Silent_p.L941L|KIF13A_ENST00000378826.2_Silent_p.L941L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	941					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATGAACTCCAGAAATTCTTCT	0.448																																						dbGAP											0													67.0	63.0	64.0					6																	17797021		1868	4103	5971	-	-	-	SO:0001819	synonymous_variant	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2821C>T	6.37:g.17797021G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L941	ENST00000259711.6	37	c.2821	CCDS47381.1	6																																																																																			KIF13A	-	NULL	ENSG00000137177		0.448	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	214	0.00	0	G			17797021	17797021	-1	no_errors	ENST00000259711	ensembl	human	known	69_37n	silent	144	30.95	65	SNP	1.000	A
KIF13A	63971	genome.wustl.edu	37	6	17797021	17797021	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:17797021G>A	ENST00000259711.6	-	23	2926	c.2821C>T	c.(2821-2823)Ctg>Ttg	p.L941L	KIF13A_ENST00000378814.5_Silent_p.L941L|KIF13A_ENST00000378816.5_Silent_p.L941L|KIF13A_ENST00000378843.2_Silent_p.L941L|KIF13A_ENST00000378826.2_Silent_p.L941L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	941					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATGAACTCCAGAAATTCTTCT	0.448																																						dbGAP											0													67.0	63.0	64.0					6																	17797021		1868	4103	5971	-	-	-	SO:0001819	synonymous_variant	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2821C>T	6.37:g.17797021G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L941	ENST00000259711.6	37	c.2821	CCDS47381.1	6																																																																																			KIF13A	-	NULL	ENSG00000137177		0.448	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	124	0.00	0	G			17797021	17797021	-1	no_errors	ENST00000259711	ensembl	human	known	69_37n	silent	144	30.95	65	SNP	1.000	A
KIF14	9928	genome.wustl.edu	37	1	200586951	200586951	+	Missense_Mutation	SNP	G	G	C	rs374253448		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:200586951G>C	ENST00000367350.4	-	2	1339	c.901C>G	c.(901-903)Cca>Gca	p.P301A		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	301	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AGTATTGATGGAGCTGGGCTC	0.363																																						dbGAP											0													170.0	163.0	165.0					1																	200586951		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.901C>G	1.37:g.200586951G>C	ENSP00000356319:p.Pro301Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P301A	ENST00000367350.4	37	c.901	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	G	5.505	0.278175	0.10403	.	.	ENSG00000118193	ENST00000367350	T	0.72167	-0.63	5.24	-10.5	0.00291	.	1.657040	0.03269	N	0.184396	T	0.34745	0.0908	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24870	-1.0148	10	0.08179	T	0.78	.	3.9694	0.09446	0.2753:0.0987:0.0824:0.5435	.	301	Q15058	KIF14_HUMAN	A	301	ENSP00000356319:P301A	ENSP00000356319:P301A	P	-	1	0	KIF14	198853574	0.000000	0.05858	0.000000	0.03702	0.261000	0.26267	-1.340000	0.02650	-1.740000	0.01345	-0.353000	0.07706	CCA	KIF14	-	NULL	ENSG00000118193		0.363	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	268	0.00	0	G	NM_014875		200586951	200586951	-1	no_errors	ENST00000367350	ensembl	human	known	69_37n	missense	201	26.91	74	SNP	0.000	C
KIF14	9928	genome.wustl.edu	37	1	200586951	200586951	+	Missense_Mutation	SNP	G	G	C	rs374253448		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:200586951G>C	ENST00000367350.4	-	2	1339	c.901C>G	c.(901-903)Cca>Gca	p.P301A		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	301	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AGTATTGATGGAGCTGGGCTC	0.363																																						dbGAP											0													170.0	163.0	165.0					1																	200586951		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.901C>G	1.37:g.200586951G>C	ENSP00000356319:p.Pro301Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P301A	ENST00000367350.4	37	c.901	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	G	5.505	0.278175	0.10403	.	.	ENSG00000118193	ENST00000367350	T	0.72167	-0.63	5.24	-10.5	0.00291	.	1.657040	0.03269	N	0.184396	T	0.34745	0.0908	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24870	-1.0148	10	0.08179	T	0.78	.	3.9694	0.09446	0.2753:0.0987:0.0824:0.5435	.	301	Q15058	KIF14_HUMAN	A	301	ENSP00000356319:P301A	ENSP00000356319:P301A	P	-	1	0	KIF14	198853574	0.000000	0.05858	0.000000	0.03702	0.261000	0.26267	-1.340000	0.02650	-1.740000	0.01345	-0.353000	0.07706	CCA	KIF14	-	NULL	ENSG00000118193		0.363	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	179	0.00	0	G	NM_014875		200586951	200586951	-1	no_errors	ENST00000367350	ensembl	human	known	69_37n	missense	201	26.91	74	SNP	0.000	C
KIF5C	3800	genome.wustl.edu	37	2	149806935	149806935	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:149806935C>T	ENST00000435030.1	+	10	1295	c.927C>T	c.(925-927)ttC>ttT	p.F309F	KIF5C_ENST00000414838.2_Silent_p.F214F|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.F77F			O60282	KIF5C_HUMAN	kinesin family member 5C	309	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTTCTGTCTTCAATGAGGCTG	0.507																																						dbGAP											0													105.0	102.0	103.0					2																	149806935		1986	4174	6160	-	-	-	SO:0001819	synonymous_variant	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.927C>T	2.37:g.149806935C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95079|Q2YDC5	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.F309	ENST00000435030.1	37	c.927		2																																																																																			KIF5C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000168280		0.507	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	87	0.00	0	C	NM_004522		149806935	149806935	+1	no_errors	ENST00000435030	ensembl	human	known	69_37n	silent	57	35.96	32	SNP	1.000	T
KIF5C	3800	genome.wustl.edu	37	2	149806935	149806935	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:149806935C>T	ENST00000435030.1	+	10	1295	c.927C>T	c.(925-927)ttC>ttT	p.F309F	KIF5C_ENST00000414838.2_Silent_p.F214F|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.F77F			O60282	KIF5C_HUMAN	kinesin family member 5C	309	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTTCTGTCTTCAATGAGGCTG	0.507																																						dbGAP											0													105.0	102.0	103.0					2																	149806935		1986	4174	6160	-	-	-	SO:0001819	synonymous_variant	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.927C>T	2.37:g.149806935C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95079|Q2YDC5	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.F309	ENST00000435030.1	37	c.927		2																																																																																			KIF5C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000168280		0.507	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	37	0.00	0	C	NM_004522		149806935	149806935	+1	no_errors	ENST00000435030	ensembl	human	known	69_37n	silent	57	35.96	32	SNP	1.000	T
KLHL34	257240	genome.wustl.edu	37	X	21675045	21675046	+	Frame_Shift_Ins	INS	-	-	C	rs139183650	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:21675045_21675046insC	ENST00000379499.2	-	1	1402_1403	c.861_862insG	c.(859-864)gggcgcfs	p.R288fs		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	288						extracellular space (GO:0005615)		p.R288fs*9(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGTGCCCTGCGCCCCCCCACCA	0.693																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.862dupG	X.37:g.21675052_21675052dupC	ENSP00000368813:p.Arg288fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R287fs	ENST00000379499.2	37	c.862_861	CCDS14199.1	X																																																																																			KLHL34	-	pirsf_Kelch-like_gigaxonin	ENSG00000185915		0.693	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL34	HGNC	protein_coding	OTTHUMT00000056022.1	9	0.00	0	-	NM_153270		21675045	21675046	-1	no_errors	ENST00000379499	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.005:0.005	C
KLHL4	56062	genome.wustl.edu	37	X	86869457	86869457	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:86869457C>A	ENST00000373119.4	+	3	756	c.611C>A	c.(610-612)tCt>tAt	p.S204Y	KLHL4_ENST00000373114.4_Missense_Mutation_p.S204Y	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	204	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGCGCAGTGTCTGATTATTTT	0.373																																						dbGAP											0													172.0	138.0	150.0					X																	86869457		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.611C>A	X.37:g.86869457C>A	ENSP00000362211:p.Ser204Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.S204Y	ENST00000373119.4	37	c.611	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250307	0.80024	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.85955	-2.05;-2.05	4.71	4.71	0.59529	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.313152	0.32093	N	0.006583	D	0.96137	0.8741	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98385	1.0560	10	0.87932	D	0	.	15.826	0.78706	0.0:1.0:0.0:0.0	.	204;204	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	Y	204	ENSP00000362211:S204Y;ENSP00000362206:S204Y	ENSP00000362206:S204Y	S	+	2	0	KLHL4	86756113	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.334000	0.79224	1.925000	0.55765	0.436000	0.28706	TCT	KLHL4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000102271		0.373	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	95	0.00	0	C			86869457	86869457	+1	no_errors	ENST00000373114	ensembl	human	known	69_37n	missense	79	32.48	38	SNP	1.000	A
KLHL4	56062	genome.wustl.edu	37	X	86869457	86869457	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:86869457C>A	ENST00000373119.4	+	3	756	c.611C>A	c.(610-612)tCt>tAt	p.S204Y	KLHL4_ENST00000373114.4_Missense_Mutation_p.S204Y	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	204	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGCGCAGTGTCTGATTATTTT	0.373																																						dbGAP											0													172.0	138.0	150.0					X																	86869457		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.611C>A	X.37:g.86869457C>A	ENSP00000362211:p.Ser204Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.S204Y	ENST00000373119.4	37	c.611	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250307	0.80024	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.85955	-2.05;-2.05	4.71	4.71	0.59529	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.313152	0.32093	N	0.006583	D	0.96137	0.8741	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98385	1.0560	10	0.87932	D	0	.	15.826	0.78706	0.0:1.0:0.0:0.0	.	204;204	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	Y	204	ENSP00000362211:S204Y;ENSP00000362206:S204Y	ENSP00000362206:S204Y	S	+	2	0	KLHL4	86756113	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.334000	0.79224	1.925000	0.55765	0.436000	0.28706	TCT	KLHL4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000102271		0.373	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	68	0.00	0	C			86869457	86869457	+1	no_errors	ENST00000373114	ensembl	human	known	69_37n	missense	79	32.48	38	SNP	1.000	A
KLK9	284366	genome.wustl.edu	37	19	51509731	51509732	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:51509731_51509732insC	ENST00000594211.1	-	3	448_449	c.448_449insG	c.(448-450)gccfs	p.A150fs	KLK9_ENST00000250366.6_Frame_Shift_Ins_p.A150fs|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Frame_Shift_Ins_p.A150fs			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	150	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCTGGACACGGCCCCCCAGCCT	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"""Kallikreins"""	6370	protein-coding gene	gene with protein product		605504	"""kallikrein 9"""			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.449dupG	19.37:g.51509737_51509737dupC	ENSP00000469417:p.Ala150fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6QA55	Frame_Shift_Ins	INS	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A150fs	ENST00000594211.1	37	c.449_448	CCDS12816.1	19																																																																																			KLK9	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000213022		0.599	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KLK9	HGNC	protein_coding	OTTHUMT00000465226.1	21	0.00	0	-	NM_012315		51509731	51509732	-1	no_errors	ENST00000250366	ensembl	human	known	69_37n	frame_shift_ins	45	15.09	8	INS	0.982:0.966	C
KRT9	3857	genome.wustl.edu	37	17	39723875	39723875	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:39723875C>T	ENST00000246662.4	-	7	1587	c.1522G>A	c.(1522-1524)Gga>Aga	p.G508R	KRT9_ENST00000588431.1_Missense_Mutation_p.G275R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	508	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ccacttcctccaccatagcca	0.597																																						dbGAP											0													192.0	127.0	149.0					17																	39723875		2200	4295	6495	-	-	-	SO:0001583	missense	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1522G>A	17.37:g.39723875C>T	ENSP00000246662:p.Gly508Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.G508R	ENST00000246662.4	37	c.1522	CCDS32654.1	17	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503103	0.26949	.	.	ENSG00000171403	ENST00000246662	D	0.96685	-4.09	3.1	3.1	0.35709	.	0.270585	0.19745	N	0.107025	D	0.94255	0.8155	N	0.24115	0.695	0.29075	N	0.88308	D	0.63046	0.992	P	0.60682	0.878	D	0.88467	0.3059	10	0.15499	T	0.54	.	9.6494	0.39888	0.0:1.0:0.0:0.0	.	508	P35527	K1C9_HUMAN	R	508	ENSP00000246662:G508R	ENSP00000246662:G508R	G	-	1	0	KRT9	36977401	0.050000	0.20438	0.729000	0.30791	0.418000	0.31294	0.347000	0.20014	1.613000	0.50231	0.458000	0.33432	GGA	KRT9	-	NULL	ENSG00000171403		0.597	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	73	0.00	0	C	NM_000226		39723875	39723875	-1	no_errors	ENST00000246662	ensembl	human	known	69_37n	missense	60	65.71	115	SNP	0.886	T
KRT9	3857	genome.wustl.edu	37	17	39724602	39724602	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:39724602C>T	ENST00000246662.4	-	6	1271	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	KRT9_ENST00000588431.1_Silent_p.K169K	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	402	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				AGTAGCGGTTCTTCGTGTCTT	0.522																																						dbGAP											0													120.0	117.0	118.0					17																	39724602		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1206G>A	17.37:g.39724602C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00109|Q0IJ47|Q14665	Silent	SNP	pfam_F,prints_Keratin_I	p.K402	ENST00000246662.4	37	c.1206	CCDS32654.1	17																																																																																			KRT9	-	pfam_F	ENSG00000171403		0.522	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	144	0.00	0	C	NM_000226		39724602	39724602	-1	no_errors	ENST00000246662	ensembl	human	known	69_37n	silent	106	70.22	250	SNP	0.736	T
KRT9	3857	genome.wustl.edu	37	17	39724823	39724823	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:39724823C>T	ENST00000246662.4	-	5	1172	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	KRT9_ENST00000588431.1_Silent_p.E136E	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	369	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GCTGGGTCACCTCCTTGGCAC	0.552																																						dbGAP											0													302.0	282.0	288.0					17																	39724823		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1107G>A	17.37:g.39724823C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00109|Q0IJ47|Q14665	Silent	SNP	pfam_F,prints_Keratin_I	p.E369	ENST00000246662.4	37	c.1107	CCDS32654.1	17																																																																																			KRT9	-	pfam_F	ENSG00000171403		0.552	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	259	0.00	0	C	NM_000226		39724823	39724823	-1	no_errors	ENST00000246662	ensembl	human	known	69_37n	silent	168	74.35	487	SNP	0.871	T
LDHAL6CP	121498	genome.wustl.edu	37	12	63398036	63398036	+	lincRNA	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr12:63398036G>A	ENST00000552996.1	-	0	1070				LDHAL6CP_ENST00000550738.1_RNA																							GAAAGCTGCCGTGGATGGATC	0.448																																						dbGAP											0																																										-	-	-			0																															12.37:g.63398036G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000552996.1	37	NULL		12																																																																																			LDHAL6CP	-	-	ENSG00000250517		0.448	RP11-848D3.5-001	KNOWN	basic	lincRNA	LDHAL6CP	HGNC	lincRNA	OTTHUMT00000406731.1	131	0.00	0	G			63398036	63398036	+1	no_errors	ENST00000550738	ensembl	human	known	69_37n	rna	108	31.65	50	SNP	1.000	A
LDHAL6CP	121498	genome.wustl.edu	37	12	63398036	63398036	+	lincRNA	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr12:63398036G>A	ENST00000552996.1	-	0	1070				LDHAL6CP_ENST00000550738.1_RNA																							GAAAGCTGCCGTGGATGGATC	0.448																																						dbGAP											0																																										-	-	-			0																															12.37:g.63398036G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000552996.1	37	NULL		12																																																																																			LDHAL6CP	-	-	ENSG00000250517		0.448	RP11-848D3.5-001	KNOWN	basic	lincRNA	LDHAL6CP	HGNC	lincRNA	OTTHUMT00000406731.1	247	0.00	0	G			63398036	63398036	+1	no_errors	ENST00000550738	ensembl	human	known	69_37n	rna	108	31.65	50	SNP	1.000	A
LINC00471	151477	genome.wustl.edu	37	2	232378274	232378274	+	RNA	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:232378274C>G	ENST00000313064.2	-	0	327					NR_024079.1		Q8N535	CB052_HUMAN	long intergenic non-protein coding RNA 471																		CTTCTGACATCTCATCTTCCC	0.363																																						dbGAP											0													238.0	215.0	222.0					2																	232378274		2203	4300	6503	-	-	-			0			BC033054		2q37.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000181798	ENSG00000181798		"""Long non-coding RNAs"""	28668	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 52"""	C2orf52		12477932	Standard	NR_024079		Approved	MGC43122	uc002vrx.1	Q8N535	OTTHUMG00000133227		2.37:g.232378274C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000313064.2	37	NULL		2																																																																																			LINC00471	-	-	ENSG00000181798		0.363	LINC00471-001	KNOWN	basic	processed_transcript	LINC00471	HGNC	processed_transcript	OTTHUMT00000256963.2	138	0.00	0	C	NM_173513		232378274	232378274	-1	no_errors	ENST00000313064	ensembl	human	known	69_37n	rna	104	24.64	34	SNP	0.326	G
LINC00471	151477	genome.wustl.edu	37	2	232378274	232378274	+	RNA	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:232378274C>G	ENST00000313064.2	-	0	327					NR_024079.1		Q8N535	CB052_HUMAN	long intergenic non-protein coding RNA 471																		CTTCTGACATCTCATCTTCCC	0.363																																						dbGAP											0													238.0	215.0	222.0					2																	232378274		2203	4300	6503	-	-	-			0			BC033054		2q37.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000181798	ENSG00000181798		"""Long non-coding RNAs"""	28668	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 52"""	C2orf52		12477932	Standard	NR_024079		Approved	MGC43122	uc002vrx.1	Q8N535	OTTHUMG00000133227		2.37:g.232378274C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000313064.2	37	NULL		2																																																																																			LINC00471	-	-	ENSG00000181798		0.363	LINC00471-001	KNOWN	basic	processed_transcript	LINC00471	HGNC	processed_transcript	OTTHUMT00000256963.2	126	0.00	0	C	NM_173513		232378274	232378274	-1	no_errors	ENST00000313064	ensembl	human	known	69_37n	rna	104	24.64	34	SNP	0.326	G
LRG1	116844	genome.wustl.edu	37	19	4538658	4538658	+	Missense_Mutation	SNP	C	C	T	rs200386362		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:4538658C>T	ENST00000306390.6	-	2	798	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	113					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCACTGGCCGCAGGAATTC	0.652													c|||	1	0.000199681	0.0	0.0	5008	,	,		16313	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													21.0	24.0	23.0					19																	4538658		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.338G>A	19.37:g.4538658C>T	ENSP00000302621:p.Arg113Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4F5|Q96QZ4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R113Q	ENST00000306390.6	37	c.338	CCDS12130.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	0.616	-0.822947	0.02755	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02369	4.32	4.71	-4.75	0.03239	.	1.442820	0.04968	N	0.463376	T	0.01222	0.0040	N	0.05280	-0.08	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.47018	-0.9149	10	0.13470	T	0.59	-0.9804	0.2771	0.00239	0.2398:0.1642:0.2363:0.3598	.	113	P02750	A2GL_HUMAN	Q	113	ENSP00000302621:R113Q	ENSP00000302621:R113Q	R	-	2	0	LRG1	4489658	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.637000	0.02015	-0.958000	0.03622	-2.429000	0.00215	CGG	LRG1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000171236		0.652	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	29	0.00	0	C	NM_052972		4538658	4538658	-1	no_errors	ENST00000306390	ensembl	human	known	69_37n	missense	15	48.28	14	SNP	0.000	T
LRG1	116844	genome.wustl.edu	37	19	4538658	4538658	+	Missense_Mutation	SNP	C	C	T	rs200386362		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:4538658C>T	ENST00000306390.6	-	2	798	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	113					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCACTGGCCGCAGGAATTC	0.652													c|||	1	0.000199681	0.0	0.0	5008	,	,		16313	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													21.0	24.0	23.0					19																	4538658		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.338G>A	19.37:g.4538658C>T	ENSP00000302621:p.Arg113Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4F5|Q96QZ4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R113Q	ENST00000306390.6	37	c.338	CCDS12130.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	0.616	-0.822947	0.02755	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02369	4.32	4.71	-4.75	0.03239	.	1.442820	0.04968	N	0.463376	T	0.01222	0.0040	N	0.05280	-0.08	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.47018	-0.9149	10	0.13470	T	0.59	-0.9804	0.2771	0.00239	0.2398:0.1642:0.2363:0.3598	.	113	P02750	A2GL_HUMAN	Q	113	ENSP00000302621:R113Q	ENSP00000302621:R113Q	R	-	2	0	LRG1	4489658	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.637000	0.02015	-0.958000	0.03622	-2.429000	0.00215	CGG	LRG1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000171236		0.652	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	38	0.00	0	C	NM_052972		4538658	4538658	-1	no_errors	ENST00000306390	ensembl	human	known	69_37n	missense	15	48.28	14	SNP	0.000	T
LRRC41	10489	genome.wustl.edu	37	1	46763977	46763977	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:46763977C>T	ENST00000343304.6	-	2	550	c.265G>A	c.(265-267)Gag>Aag	p.E89K	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	89					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCAGTTTCCTCAATCCTCTCC	0.403																																						dbGAP											0													107.0	107.0	107.0					1																	46763977		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.265G>A	1.37:g.46763977C>T	ENSP00000343298:p.Glu89Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E89K	ENST00000343304.6	37	c.265	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.938740	0.92526	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	D	0.84298	-1.83	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	D	0.88202	0.6373	L	0.27053	0.805	0.40981	D	0.984778	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.80764	0.986;0.994;0.986	D	0.89586	0.3824	10	0.72032	D	0.01	-3.0605	17.8275	0.88669	0.0:1.0:0.0:0.0	.	89;67;89	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	K	89;67	ENSP00000343298:E89K	ENSP00000343298:E89K	E	-	1	0	LRRC41	46536564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.145000	0.58065	2.746000	0.94184	0.591000	0.81541	GAG	LRRC41	-	NULL	ENSG00000132128		0.403	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	176	0.00	0	C	NM_006369		46763977	46763977	-1	no_errors	ENST00000343304	ensembl	human	known	69_37n	missense	85	17.48	18	SNP	1.000	T
LRRC41	10489	genome.wustl.edu	37	1	46763977	46763977	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:46763977C>T	ENST00000343304.6	-	2	550	c.265G>A	c.(265-267)Gag>Aag	p.E89K	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	89					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCAGTTTCCTCAATCCTCTCC	0.403																																						dbGAP											0													107.0	107.0	107.0					1																	46763977		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.265G>A	1.37:g.46763977C>T	ENSP00000343298:p.Glu89Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E89K	ENST00000343304.6	37	c.265	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.938740	0.92526	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	D	0.84298	-1.83	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	D	0.88202	0.6373	L	0.27053	0.805	0.40981	D	0.984778	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.80764	0.986;0.994;0.986	D	0.89586	0.3824	10	0.72032	D	0.01	-3.0605	17.8275	0.88669	0.0:1.0:0.0:0.0	.	89;67;89	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	K	89;67	ENSP00000343298:E89K	ENSP00000343298:E89K	E	-	1	0	LRRC41	46536564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.145000	0.58065	2.746000	0.94184	0.591000	0.81541	GAG	LRRC41	-	NULL	ENSG00000132128		0.403	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	109	0.00	0	C	NM_006369		46763977	46763977	-1	no_errors	ENST00000343304	ensembl	human	known	69_37n	missense	85	17.48	18	SNP	1.000	T
LUZP4	51213	genome.wustl.edu	37	X	114524374	114524374	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:114524374C>T	ENST00000371920.3	+	1	56	c.49C>T	c.(49-51)Cat>Tat	p.H17Y	LUZP4_ENST00000451986.2_5'UTR	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	17						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GCCGCCAAATCATCCCAGTCG	0.517																																						dbGAP											0													105.0	83.0	91.0					X																	114524374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.49C>T	X.37:g.114524374C>T	ENSP00000360988:p.His17Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSD6	Missense_Mutation	SNP	NULL	p.H17Y	ENST00000371920.3	37	c.49	CCDS14567.1	X	.	.	.	.	.	.	.	.	.	.	c	0.023	-1.402361	0.01165	.	.	ENSG00000102021	ENST00000371921;ENST00000371920	T;T	0.46451	0.87;1.46	2.48	-1.53	0.08611	.	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	0.999999	B	0.19073	0.033	B	0.17098	0.017	T	0.15578	-1.0432	9	0.54805	T	0.06	.	2.7069	0.05164	0.2154:0.3465:0.0:0.4381	.	17	Q9P127	LUZP4_HUMAN	Y	17	ENSP00000360989:H17Y;ENSP00000360988:H17Y	ENSP00000360988:H17Y	H	+	1	0	LUZP4	114430630	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.093000	0.03362	-0.623000	0.05618	-0.213000	0.12676	CAT	LUZP4	-	NULL	ENSG00000102021		0.517	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LUZP4	HGNC	protein_coding	OTTHUMT00000057972.1	123	0.00	0	C	NM_016383		114524374	114524374	+1	no_errors	ENST00000371920	ensembl	human	known	69_37n	missense	52	28.77	21	SNP	0.000	T
LUZP4	51213	genome.wustl.edu	37	X	114524374	114524374	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:114524374C>T	ENST00000371920.3	+	1	56	c.49C>T	c.(49-51)Cat>Tat	p.H17Y	LUZP4_ENST00000451986.2_5'UTR	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	17						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GCCGCCAAATCATCCCAGTCG	0.517																																						dbGAP											0													105.0	83.0	91.0					X																	114524374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.49C>T	X.37:g.114524374C>T	ENSP00000360988:p.His17Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSD6	Missense_Mutation	SNP	NULL	p.H17Y	ENST00000371920.3	37	c.49	CCDS14567.1	X	.	.	.	.	.	.	.	.	.	.	c	0.023	-1.402361	0.01165	.	.	ENSG00000102021	ENST00000371921;ENST00000371920	T;T	0.46451	0.87;1.46	2.48	-1.53	0.08611	.	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	0.999999	B	0.19073	0.033	B	0.17098	0.017	T	0.15578	-1.0432	9	0.54805	T	0.06	.	2.7069	0.05164	0.2154:0.3465:0.0:0.4381	.	17	Q9P127	LUZP4_HUMAN	Y	17	ENSP00000360989:H17Y;ENSP00000360988:H17Y	ENSP00000360988:H17Y	H	+	1	0	LUZP4	114430630	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.093000	0.03362	-0.623000	0.05618	-0.213000	0.12676	CAT	LUZP4	-	NULL	ENSG00000102021		0.517	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LUZP4	HGNC	protein_coding	OTTHUMT00000057972.1	53	0.00	0	C	NM_016383		114524374	114524374	+1	no_errors	ENST00000371920	ensembl	human	known	69_37n	missense	52	28.77	21	SNP	0.000	T
MAGEE2	139599	genome.wustl.edu	37	X	75004401	75004401	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:75004401G>C	ENST00000373359.2	-	1	678	c.486C>G	c.(484-486)ttC>ttG	p.F162L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	162	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGTGATCTGGAAACCCCGTT	0.527																																						dbGAP											0													35.0	29.0	31.0					X																	75004401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.486C>G	X.37:g.75004401G>C	ENSP00000362457:p.Phe162Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.F162L	ENST00000373359.2	37	c.486	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.284565	0.00251	.	.	ENSG00000186675	ENST00000373359	T	0.03982	3.74	3.08	-0.775	0.10988	.	.	.	.	.	T	0.01061	0.0035	N	0.00602	-1.34	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44697	-0.9311	9	0.02654	T	1	.	2.6951	0.05132	0.4002:0.0:0.3872:0.2126	.	162	Q8TD90	MAGE2_HUMAN	L	162	ENSP00000362457:F162L	ENSP00000362457:F162L	F	-	3	2	MAGEE2	74921126	0.619000	0.27059	0.002000	0.10522	0.001000	0.01503	0.553000	0.23391	-0.354000	0.08212	-0.430000	0.05897	TTC	MAGEE2	-	pfam_MAGE,pfscan_MAGE	ENSG00000186675		0.527	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	137	0.00	0	G	NM_138703		75004401	75004401	-1	no_errors	ENST00000373359	ensembl	human	known	69_37n	missense	99	27.01	37	SNP	0.002	C
MAGEE2	139599	genome.wustl.edu	37	X	75004401	75004401	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:75004401G>C	ENST00000373359.2	-	1	678	c.486C>G	c.(484-486)ttC>ttG	p.F162L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	162	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGTGATCTGGAAACCCCGTT	0.527																																						dbGAP											0													35.0	29.0	31.0					X																	75004401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.486C>G	X.37:g.75004401G>C	ENSP00000362457:p.Phe162Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.F162L	ENST00000373359.2	37	c.486	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.284565	0.00251	.	.	ENSG00000186675	ENST00000373359	T	0.03982	3.74	3.08	-0.775	0.10988	.	.	.	.	.	T	0.01061	0.0035	N	0.00602	-1.34	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44697	-0.9311	9	0.02654	T	1	.	2.6951	0.05132	0.4002:0.0:0.3872:0.2126	.	162	Q8TD90	MAGE2_HUMAN	L	162	ENSP00000362457:F162L	ENSP00000362457:F162L	F	-	3	2	MAGEE2	74921126	0.619000	0.27059	0.002000	0.10522	0.001000	0.01503	0.553000	0.23391	-0.354000	0.08212	-0.430000	0.05897	TTC	MAGEE2	-	pfam_MAGE,pfscan_MAGE	ENSG00000186675		0.527	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	73	0.00	0	G	NM_138703		75004401	75004401	-1	no_errors	ENST00000373359	ensembl	human	known	69_37n	missense	99	27.01	37	SNP	0.002	C
MAGEC1	9947	genome.wustl.edu	37	X	140995393	140995393	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:140995393G>A	ENST00000285879.4	+	4	2489	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	735										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGGGAGGACTTCCAGTC	0.542										HNSCC(15;0.026)																												dbGAP											0													117.0	126.0	123.0					X																	140995393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2203G>A	X.37:g.140995393G>A	ENSP00000285879:p.Asp735Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.D735N	ENST00000285879.4	37	c.2203	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	g	13.11	2.139171	0.37728	.	.	ENSG00000155495	ENST00000285879	T	0.02606	4.23	0.96	-1.51	0.08664	.	.	.	.	.	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	1	D	0.57571	0.98	D	0.68192	0.956	T	0.43750	-0.9372	9	0.72032	D	0.01	.	5.6247	0.17477	1.0E-4:0.3425:0.6575:0.0	.	735	O60732	MAGC1_HUMAN	N	735	ENSP00000285879:D735N	ENSP00000285879:D735N	D	+	1	0	MAGEC1	140823059	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.120000	0.10660	0.187000	0.20147	0.190000	0.17370	GAC	MAGEC1	-	NULL	ENSG00000155495		0.542	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	363	0.27	1	G	NM_005462		140995393	140995393	+1	no_errors	ENST00000285879	ensembl	human	known	69_37n	missense	434	27.09	162	SNP	0.013	A
MAGEC1	9947	genome.wustl.edu	37	X	140995393	140995393	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:140995393G>A	ENST00000285879.4	+	4	2489	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	735										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGGGAGGACTTCCAGTC	0.542										HNSCC(15;0.026)																												dbGAP											0													117.0	126.0	123.0					X																	140995393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2203G>A	X.37:g.140995393G>A	ENSP00000285879:p.Asp735Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.D735N	ENST00000285879.4	37	c.2203	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	g	13.11	2.139171	0.37728	.	.	ENSG00000155495	ENST00000285879	T	0.02606	4.23	0.96	-1.51	0.08664	.	.	.	.	.	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	1	D	0.57571	0.98	D	0.68192	0.956	T	0.43750	-0.9372	9	0.72032	D	0.01	.	5.6247	0.17477	1.0E-4:0.3425:0.6575:0.0	.	735	O60732	MAGC1_HUMAN	N	735	ENSP00000285879:D735N	ENSP00000285879:D735N	D	+	1	0	MAGEC1	140823059	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.120000	0.10660	0.187000	0.20147	0.190000	0.17370	GAC	MAGEC1	-	NULL	ENSG00000155495		0.542	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	660	0.00	0	G	NM_005462		140995393	140995393	+1	no_errors	ENST00000285879	ensembl	human	known	69_37n	missense	434	27.09	162	SNP	0.013	A
MAP3K1	4214	genome.wustl.edu	37	5	56171088	56171088	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr5:56171088T>C	ENST00000399503.3	+	10	1916	c.1916T>C	c.(1915-1917)cTg>cCg	p.L639P		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	639					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGCAGCGTTCTGTCAATGGTC	0.507																																						dbGAP											0													79.0	88.0	85.0					5																	56171088		2101	4238	6339	-	-	-	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1916T>C	5.37:g.56171088T>C	ENSP00000382423:p.Leu639Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.L639P	ENST00000399503.3	37	c.1916	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040749	0.75732	.	.	ENSG00000095015	ENST00000399503	T	0.77877	-1.13	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000004	D	0.86239	0.5885	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.87501	0.2433	10	0.87932	D	0	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	639	Q13233	M3K1_HUMAN	P	639	ENSP00000382423:L639P	ENSP00000382423:L639P	L	+	2	0	MAP3K1	56206845	1.000000	0.71417	0.897000	0.35233	0.762000	0.43233	6.908000	0.75730	2.209000	0.71365	0.533000	0.62120	CTG	MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.507	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	156	0.00	0	T	XM_042066		56171088	56171088	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	missense	145	22.04	41	SNP	0.991	C
MAP3K1	4214	genome.wustl.edu	37	5	56171088	56171088	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr5:56171088T>C	ENST00000399503.3	+	10	1916	c.1916T>C	c.(1915-1917)cTg>cCg	p.L639P		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	639					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGCAGCGTTCTGTCAATGGTC	0.507																																						dbGAP											0													79.0	88.0	85.0					5																	56171088		2101	4238	6339	-	-	-	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1916T>C	5.37:g.56171088T>C	ENSP00000382423:p.Leu639Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.L639P	ENST00000399503.3	37	c.1916	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040749	0.75732	.	.	ENSG00000095015	ENST00000399503	T	0.77877	-1.13	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000004	D	0.86239	0.5885	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.87501	0.2433	10	0.87932	D	0	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	639	Q13233	M3K1_HUMAN	P	639	ENSP00000382423:L639P	ENSP00000382423:L639P	L	+	2	0	MAP3K1	56206845	1.000000	0.71417	0.897000	0.35233	0.762000	0.43233	6.908000	0.75730	2.209000	0.71365	0.533000	0.62120	CTG	MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.507	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	142	0.00	0	T	XM_042066		56171088	56171088	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	missense	145	22.04	41	SNP	0.991	C
MAP3K13	9175	genome.wustl.edu	37	3	185165697	185165697	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr3:185165697G>C	ENST00000265026.3	+	5	1306	c.972G>C	c.(970-972)gtG>gtC	p.V324V	MAP3K13_ENST00000424227.1_Silent_p.V324V|MAP3K13_ENST00000446828.1_Silent_p.V117V|MAP3K13_ENST00000535426.1_Silent_p.V180V|MAP3K13_ENST00000443863.1_Silent_p.V180V	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CGCCAGAGGTGATACGGAATG	0.453																																						dbGAP											0													70.0	66.0	68.0					3																	185165697		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.972G>C	3.37:g.185165697G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V324	ENST00000265026.3	37	c.972	CCDS3270.1	3																																																																																			MAP3K13	-	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000073803		0.453	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1	76	0.00	0	G	NM_004721		185165697	185165697	+1	no_errors	ENST00000265026	ensembl	human	known	69_37n	silent	42	27.59	16	SNP	1.000	C
MAP3K13	9175	genome.wustl.edu	37	3	185165697	185165697	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr3:185165697G>C	ENST00000265026.3	+	5	1306	c.972G>C	c.(970-972)gtG>gtC	p.V324V	MAP3K13_ENST00000424227.1_Silent_p.V324V|MAP3K13_ENST00000446828.1_Silent_p.V117V|MAP3K13_ENST00000535426.1_Silent_p.V180V|MAP3K13_ENST00000443863.1_Silent_p.V180V	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CGCCAGAGGTGATACGGAATG	0.453																																						dbGAP											0													70.0	66.0	68.0					3																	185165697		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.972G>C	3.37:g.185165697G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V324	ENST00000265026.3	37	c.972	CCDS3270.1	3																																																																																			MAP3K13	-	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000073803		0.453	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1	66	0.00	0	G	NM_004721		185165697	185165697	+1	no_errors	ENST00000265026	ensembl	human	known	69_37n	silent	42	27.59	16	SNP	1.000	C
MAP3K7	6885	genome.wustl.edu	37	6	91260217	91260217	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:91260217C>T	ENST00000369329.3	-	9	1080	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	MAP3K7_ENST00000369325.3_Missense_Mutation_p.E307K|MAP3K7_ENST00000369332.3_Missense_Mutation_p.E307K|MAP3K7_ENST00000369327.3_Missense_Mutation_p.E307K|MAP3K7_ENST00000369320.1_5'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	307					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCTGTCCTTCATCTGAATAC	0.338																																						dbGAP											0													110.0	109.0	110.0					6																	91260217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.919G>A	6.37:g.91260217C>T	ENSP00000358335:p.Glu307Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E307K	ENST00000369329.3	37	c.919	CCDS5028.1	6	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841446	0.51057	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.76316	-0.99;-1.0;-1.01;-0.99	5.74	5.74	0.90152	Protein kinase-like domain (1);	0.102868	0.64402	D	0.000002	T	0.56673	0.2001	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.34399	0.452;0.029;0.202;0.048	B;B;B;B	0.33454	0.108;0.03;0.164;0.013	T	0.60136	-0.7322	10	0.34782	T	0.22	.	19.5249	0.95201	0.0:1.0:0.0:0.0	.	307;307;307;307	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	K	307;307;307;307;234	ENSP00000358338:E307K;ENSP00000358335:E307K;ENSP00000358331:E307K;ENSP00000358333:E307K	ENSP00000358331:E307K	E	-	1	0	MAP3K7	91316938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.242000	0.51384	2.707000	0.92482	0.557000	0.71058	GAA	MAP3K7	-	pirsf_MAPKKK7,superfamily_Kinase-like_dom	ENSG00000135341		0.338	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1	76	0.00	0	C	NM_145331		91260217	91260217	-1	no_errors	ENST00000369329	ensembl	human	known	69_37n	missense	126	26.74	46	SNP	1.000	T
MAP3K7	6885	genome.wustl.edu	37	6	91260217	91260217	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:91260217C>T	ENST00000369329.3	-	9	1080	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	MAP3K7_ENST00000369325.3_Missense_Mutation_p.E307K|MAP3K7_ENST00000369332.3_Missense_Mutation_p.E307K|MAP3K7_ENST00000369327.3_Missense_Mutation_p.E307K|MAP3K7_ENST00000369320.1_5'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	307					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCTGTCCTTCATCTGAATAC	0.338																																						dbGAP											0													110.0	109.0	110.0					6																	91260217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.919G>A	6.37:g.91260217C>T	ENSP00000358335:p.Glu307Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E307K	ENST00000369329.3	37	c.919	CCDS5028.1	6	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841446	0.51057	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.76316	-0.99;-1.0;-1.01;-0.99	5.74	5.74	0.90152	Protein kinase-like domain (1);	0.102868	0.64402	D	0.000002	T	0.56673	0.2001	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.34399	0.452;0.029;0.202;0.048	B;B;B;B	0.33454	0.108;0.03;0.164;0.013	T	0.60136	-0.7322	10	0.34782	T	0.22	.	19.5249	0.95201	0.0:1.0:0.0:0.0	.	307;307;307;307	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	K	307;307;307;307;234	ENSP00000358338:E307K;ENSP00000358335:E307K;ENSP00000358331:E307K;ENSP00000358333:E307K	ENSP00000358331:E307K	E	-	1	0	MAP3K7	91316938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.242000	0.51384	2.707000	0.92482	0.557000	0.71058	GAA	MAP3K7	-	pirsf_MAPKKK7,superfamily_Kinase-like_dom	ENSG00000135341		0.338	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1	98	0.00	0	C	NM_145331		91260217	91260217	-1	no_errors	ENST00000369329	ensembl	human	known	69_37n	missense	126	26.74	46	SNP	1.000	T
MAP3K5	4217	genome.wustl.edu	37	6	136990511	136990511	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:136990511C>T	ENST00000359015.4	-	8	1636	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	426					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTGTTGGCTCAGATTCAAAT	0.393																																						dbGAP											0													120.0	123.0	122.0					6																	136990511		2203	4300	6503	-	-	-	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1276G>A	6.37:g.136990511C>T	ENSP00000351908:p.Glu426Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E426K	ENST00000359015.4	37	c.1276	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.511000	0.96386	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.10099	2.91	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	M	0.61703	1.905	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.999	D;D;D	0.83275	0.968;0.996;0.995	T	0.00860	-1.1537	10	0.72032	D	0.01	.	19.7105	0.96095	0.0:1.0:0.0:0.0	.	506;271;426	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	K	426;506	ENSP00000351908:E426K	ENSP00000351908:E426K	E	-	1	0	MAP3K5	137032204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.705000	0.68355	2.672000	0.90937	0.655000	0.94253	GAG	MAP3K5	-	NULL	ENSG00000197442		0.393	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	144	0.00	0	C			136990511	136990511	-1	no_errors	ENST00000359015	ensembl	human	known	69_37n	missense	144	28.92	59	SNP	1.000	T
MAP3K5	4217	genome.wustl.edu	37	6	136990511	136990511	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:136990511C>T	ENST00000359015.4	-	8	1636	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	426					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTGTTGGCTCAGATTCAAAT	0.393																																						dbGAP											0													120.0	123.0	122.0					6																	136990511		2203	4300	6503	-	-	-	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1276G>A	6.37:g.136990511C>T	ENSP00000351908:p.Glu426Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E426K	ENST00000359015.4	37	c.1276	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.511000	0.96386	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.10099	2.91	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	M	0.61703	1.905	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.999	D;D;D	0.83275	0.968;0.996;0.995	T	0.00860	-1.1537	10	0.72032	D	0.01	.	19.7105	0.96095	0.0:1.0:0.0:0.0	.	506;271;426	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	K	426;506	ENSP00000351908:E426K	ENSP00000351908:E426K	E	-	1	0	MAP3K5	137032204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.705000	0.68355	2.672000	0.90937	0.655000	0.94253	GAG	MAP3K5	-	NULL	ENSG00000197442		0.393	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	129	0.77	1	C			136990511	136990511	-1	no_errors	ENST00000359015	ensembl	human	known	69_37n	missense	144	28.92	59	SNP	1.000	T
MARCH10	162333	genome.wustl.edu	37	17	60802440	60802440	+	Missense_Mutation	SNP	C	C	T	rs550108131	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:60802440C>T	ENST00000311269.5	-	7	2237	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K	MARCH10_ENST00000456609.2_Missense_Mutation_p.E655K|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.E654K|MARCH10_ENST00000583600.1_Missense_Mutation_p.E693K|RP11-156L14.1_ENST00000579201.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	655					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AAGTCTCCCTCCTCCTCGGAG	0.552																																						dbGAP											0													52.0	56.0	55.0					17																	60802440		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1963G>A	17.37:g.60802440C>T	ENSP00000311496:p.Glu655Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E655K	ENST00000311269.5	37	c.1963	CCDS11635.1	17	.	.	.	.	.	.	.	.	.	.	C	17.36	3.371085	0.61624	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.30714	1.52;1.52;1.52	5.4	5.4	0.78164	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (1);	0.000000	0.50627	D	0.000111	T	0.55226	0.1907	M	0.63428	1.95	0.48696	D	0.999696	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.56074	-0.8039	10	0.87932	D	0	-18.3922	18.314	0.90213	0.0:1.0:0.0:0.0	.	654;654;655	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	K	655;655;654	ENSP00000416177:E655K;ENSP00000311496:E655K;ENSP00000443746:E654K	ENSP00000311496:E655K	E	-	1	0	MARCH10	58156172	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.466000	0.80914	2.705000	0.92388	0.650000	0.86243	GAG	MARCH10	-	NULL	ENSG00000173838		0.552	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	151	0.00	0	C	NM_152598		60802440	60802440	-1	no_errors	ENST00000311269	ensembl	human	known	69_37n	missense	233	14.60	40	SNP	1.000	T
MARCH10	162333	genome.wustl.edu	37	17	60802440	60802440	+	Missense_Mutation	SNP	C	C	T	rs550108131	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:60802440C>T	ENST00000311269.5	-	7	2237	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K	MARCH10_ENST00000456609.2_Missense_Mutation_p.E655K|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.E654K|MARCH10_ENST00000583600.1_Missense_Mutation_p.E693K|RP11-156L14.1_ENST00000579201.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	655					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AAGTCTCCCTCCTCCTCGGAG	0.552																																						dbGAP											0													52.0	56.0	55.0					17																	60802440		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1963G>A	17.37:g.60802440C>T	ENSP00000311496:p.Glu655Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E655K	ENST00000311269.5	37	c.1963	CCDS11635.1	17	.	.	.	.	.	.	.	.	.	.	C	17.36	3.371085	0.61624	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.30714	1.52;1.52;1.52	5.4	5.4	0.78164	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (1);	0.000000	0.50627	D	0.000111	T	0.55226	0.1907	M	0.63428	1.95	0.48696	D	0.999696	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.56074	-0.8039	10	0.87932	D	0	-18.3922	18.314	0.90213	0.0:1.0:0.0:0.0	.	654;654;655	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	K	655;655;654	ENSP00000416177:E655K;ENSP00000311496:E655K;ENSP00000443746:E654K	ENSP00000311496:E655K	E	-	1	0	MARCH10	58156172	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.466000	0.80914	2.705000	0.92388	0.650000	0.86243	GAG	MARCH10	-	NULL	ENSG00000173838		0.552	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	58	0.00	0	C	NM_152598		60802440	60802440	-1	no_errors	ENST00000311269	ensembl	human	known	69_37n	missense	233	14.60	40	SNP	1.000	T
MARCH10	162333	genome.wustl.edu	37	17	60821843	60821843	+	Silent	SNP	C	C	G	rs199898215		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:60821843C>G	ENST00000311269.5	-	5	703	c.429G>C	c.(427-429)ctG>ctC	p.L143L	MARCH10_ENST00000456609.2_Silent_p.L143L|MARCH10_ENST00000544856.2_Silent_p.L142L|MARCH10_ENST00000583600.1_Silent_p.L181L	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	143					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TAAATCTCCTCAGGTTTGGCT	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16605	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													119.0	109.0	112.0					17																	60821843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.429G>C	17.37:g.60821843C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.L143	ENST00000311269.5	37	c.429	CCDS11635.1	17																																																																																			MARCH10	-	NULL	ENSG00000173838		0.463	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	155	0.00	0	C	NM_152598		60821843	60821843	-1	no_errors	ENST00000311269	ensembl	human	known	69_37n	silent	276	27.11	103	SNP	1.000	G
MARCH10	162333	genome.wustl.edu	37	17	60821843	60821843	+	Silent	SNP	C	C	G	rs199898215		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:60821843C>G	ENST00000311269.5	-	5	703	c.429G>C	c.(427-429)ctG>ctC	p.L143L	MARCH10_ENST00000456609.2_Silent_p.L143L|MARCH10_ENST00000544856.2_Silent_p.L142L|MARCH10_ENST00000583600.1_Silent_p.L181L	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	143					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TAAATCTCCTCAGGTTTGGCT	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16605	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													119.0	109.0	112.0					17																	60821843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.429G>C	17.37:g.60821843C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.L143	ENST00000311269.5	37	c.429	CCDS11635.1	17																																																																																			MARCH10	-	NULL	ENSG00000173838		0.463	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	133	0.00	0	C	NM_152598		60821843	60821843	-1	no_errors	ENST00000311269	ensembl	human	known	69_37n	silent	276	27.11	103	SNP	1.000	G
MAS1L	116511	genome.wustl.edu	37	6	29455047	29455047	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:29455047G>A	ENST00000377127.3	-	1	691	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	211					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGTAAGTTAGGAAAAGTGATT	0.433																																					NSCLC(153;755 1987 3859 11251 32945)	dbGAP											0													59.0	58.0	58.0					6																	29455047		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.633C>T	6.37:g.29455047G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SUN5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.F211	ENST00000377127.3	37	c.633	CCDS4661.1	6																																																																																			MAS1L	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204687		0.433	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	179	0.00	0	G	NM_052967		29455047	29455047	-1	no_errors	ENST00000377127	ensembl	human	known	69_37n	silent	95	34.48	50	SNP	0.000	A
MAS1L	116511	genome.wustl.edu	37	6	29455047	29455047	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:29455047G>A	ENST00000377127.3	-	1	691	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	211					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGTAAGTTAGGAAAAGTGATT	0.433																																					NSCLC(153;755 1987 3859 11251 32945)	dbGAP											0													59.0	58.0	58.0					6																	29455047		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.633C>T	6.37:g.29455047G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SUN5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.F211	ENST00000377127.3	37	c.633	CCDS4661.1	6																																																																																			MAS1L	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204687		0.433	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	106	0.00	0	G	NM_052967		29455047	29455047	-1	no_errors	ENST00000377127	ensembl	human	known	69_37n	silent	95	34.48	50	SNP	0.000	A
MAS1L	116511	genome.wustl.edu	37	6	29455193	29455193	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:29455193G>A	ENST00000377127.3	-	1	545	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	163					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GCCACCAGGAGACAGAGACAC	0.493																																					NSCLC(153;755 1987 3859 11251 32945)	dbGAP											0													70.0	60.0	63.0					6																	29455193		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.487C>T	6.37:g.29455193G>A	ENSP00000366331:p.Leu163Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SUN5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.L163F	ENST00000377127.3	37	c.487	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358686	0.24598	.	.	ENSG00000204687	ENST00000377127	T	0.41400	1.0	2.36	0.302	0.15786	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.26557	0.0649	L	0.48642	1.525	0.09310	N	1	P	0.42248	0.774	P	0.54664	0.758	T	0.21245	-1.0251	9	0.49607	T	0.09	.	2.2763	0.04103	0.3016:0.0:0.4245:0.2739	.	163	P35410	MAS1L_HUMAN	F	163	ENSP00000366331:L163F	ENSP00000366331:L163F	L	-	1	0	MAS1L	29563172	0.605000	0.26941	0.001000	0.08648	0.001000	0.01503	0.857000	0.27831	-0.067000	0.12976	-0.554000	0.04202	CTC	MAS1L	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000204687		0.493	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	181	0.00	0	G	NM_052967		29455193	29455193	-1	no_errors	ENST00000377127	ensembl	human	known	69_37n	missense	68	33.98	35	SNP	0.017	A
MAS1L	116511	genome.wustl.edu	37	6	29455193	29455193	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:29455193G>A	ENST00000377127.3	-	1	545	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	163					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GCCACCAGGAGACAGAGACAC	0.493																																					NSCLC(153;755 1987 3859 11251 32945)	dbGAP											0													70.0	60.0	63.0					6																	29455193		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.487C>T	6.37:g.29455193G>A	ENSP00000366331:p.Leu163Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SUN5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.L163F	ENST00000377127.3	37	c.487	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358686	0.24598	.	.	ENSG00000204687	ENST00000377127	T	0.41400	1.0	2.36	0.302	0.15786	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.26557	0.0649	L	0.48642	1.525	0.09310	N	1	P	0.42248	0.774	P	0.54664	0.758	T	0.21245	-1.0251	9	0.49607	T	0.09	.	2.2763	0.04103	0.3016:0.0:0.4245:0.2739	.	163	P35410	MAS1L_HUMAN	F	163	ENSP00000366331:L163F	ENSP00000366331:L163F	L	-	1	0	MAS1L	29563172	0.605000	0.26941	0.001000	0.08648	0.001000	0.01503	0.857000	0.27831	-0.067000	0.12976	-0.554000	0.04202	CTC	MAS1L	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000204687		0.493	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	72	0.00	0	G	NM_052967		29455193	29455193	-1	no_errors	ENST00000377127	ensembl	human	known	69_37n	missense	68	33.98	35	SNP	0.017	A
MAZ	4150	genome.wustl.edu	37	16	29819563	29819563	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr16:29819563C>G	ENST00000322945.6	+	3	1221	c.1056C>G	c.(1054-1056)ctC>ctG	p.L352L	MAZ_ENST00000219782.6_Silent_p.L352L|MAZ_ENST00000569978.1_5'UTR|MAZ_ENST00000568544.1_5'UTR|MAZ_ENST00000568282.1_5'UTR|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000545521.1_Silent_p.L329L|AC009133.14_ENST00000569981.1_RNA|AC009133.14_ENST00000563806.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	352					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CGGATCACCTCAACAGTCACG	0.572																																					Colon(72;875 1167 15364 30899 37091)	dbGAP											0													90.0	97.0	95.0					16																	29819563		2048	4188	6236	-	-	-	SO:0001819	synonymous_variant	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1056C>G	16.37:g.29819563C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	NULL	p.Q69E	ENST00000322945.6	37	c.205	CCDS42143.1	16																																																																																			MAZ	-	NULL	ENSG00000103495		0.572	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1	23	0.00	0	C	NM_002383		29819563	29819563	+1	no_errors	ENST00000561855	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	1.000	G
MAZ	4150	genome.wustl.edu	37	16	29819563	29819563	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr16:29819563C>G	ENST00000322945.6	+	3	1221	c.1056C>G	c.(1054-1056)ctC>ctG	p.L352L	MAZ_ENST00000219782.6_Silent_p.L352L|MAZ_ENST00000569978.1_5'UTR|MAZ_ENST00000568544.1_5'UTR|MAZ_ENST00000568282.1_5'UTR|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000545521.1_Silent_p.L329L|AC009133.14_ENST00000569981.1_RNA|AC009133.14_ENST00000563806.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	352					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CGGATCACCTCAACAGTCACG	0.572																																					Colon(72;875 1167 15364 30899 37091)	dbGAP											0													90.0	97.0	95.0					16																	29819563		2048	4188	6236	-	-	-	SO:0001819	synonymous_variant	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1056C>G	16.37:g.29819563C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	NULL	p.Q69E	ENST00000322945.6	37	c.205	CCDS42143.1	16																																																																																			MAZ	-	NULL	ENSG00000103495		0.572	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1	25	0.00	0	C	NM_002383		29819563	29819563	+1	no_errors	ENST00000561855	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	1.000	G
MED13	9969	genome.wustl.edu	37	17	60023893	60023893	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:60023893G>A	ENST00000397786.2	-	30	6537	c.6461C>T	c.(6460-6462)tCa>tTa	p.S2154L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2154					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGGAGACATGAGCGTCTGTC	0.388																																						dbGAP											0													85.0	81.0	82.0					17																	60023893		1876	4117	5993	-	-	-	SO:0001583	missense	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6461C>T	17.37:g.60023893G>A	ENSP00000380888:p.Ser2154Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.S2154L	ENST00000397786.2	37	c.6461	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694409	0.68386	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.84589	-1.87	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.93403	0.7896	M	0.86953	2.85	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.94563	0.7764	10	0.87932	D	0	-11.0456	18.2754	0.90081	0.0:0.0:1.0:0.0	.	2154	Q9UHV7	MED13_HUMAN	L	2154;2153	ENSP00000380888:S2154L	ENSP00000262436:S2153L	S	-	2	0	MED13	57378675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.367000	0.97148	2.315000	0.78130	0.591000	0.81541	TCA	MED13	-	pfam_Mediator_Med13	ENSG00000108510		0.388	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	106	0.00	0	G	NM_005121		60023893	60023893	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	missense	89	46.71	78	SNP	1.000	A
MED13	9969	genome.wustl.edu	37	17	60023893	60023893	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:60023893G>A	ENST00000397786.2	-	30	6537	c.6461C>T	c.(6460-6462)tCa>tTa	p.S2154L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2154					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGGAGACATGAGCGTCTGTC	0.388																																						dbGAP											0													85.0	81.0	82.0					17																	60023893		1876	4117	5993	-	-	-	SO:0001583	missense	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6461C>T	17.37:g.60023893G>A	ENSP00000380888:p.Ser2154Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.S2154L	ENST00000397786.2	37	c.6461	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694409	0.68386	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.84589	-1.87	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.93403	0.7896	M	0.86953	2.85	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.94563	0.7764	10	0.87932	D	0	-11.0456	18.2754	0.90081	0.0:0.0:1.0:0.0	.	2154	Q9UHV7	MED13_HUMAN	L	2154;2153	ENSP00000380888:S2154L	ENSP00000262436:S2153L	S	-	2	0	MED13	57378675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.367000	0.97148	2.315000	0.78130	0.591000	0.81541	TCA	MED13	-	pfam_Mediator_Med13	ENSG00000108510		0.388	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	75	0.00	0	G	NM_005121		60023893	60023893	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	missense	89	46.71	78	SNP	1.000	A
MED14	9282	genome.wustl.edu	37	X	40569291	40569291	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:40569291C>T	ENST00000324817.1	-	9	1231	c.1113G>A	c.(1111-1113)caG>caA	p.Q371Q		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	371	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGAAAAATCTGTAAAGGCT	0.338																																						dbGAP											0													50.0	45.0	47.0					X																	40569291		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1113G>A	X.37:g.40569291C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMR7|Q9UNB3	Silent	SNP	pfam_Mediator_Med14	p.Q371	ENST00000324817.1	37	c.1113	CCDS14254.1	X																																																																																			MED14	-	NULL	ENSG00000180182		0.338	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	67	0.00	0	C	NM_004229		40569291	40569291	-1	no_errors	ENST00000324817	ensembl	human	known	69_37n	silent	74	24.49	24	SNP	1.000	T
MED14	9282	genome.wustl.edu	37	X	40569291	40569291	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:40569291C>T	ENST00000324817.1	-	9	1231	c.1113G>A	c.(1111-1113)caG>caA	p.Q371Q		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	371	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGAAAAATCTGTAAAGGCT	0.338																																						dbGAP											0													50.0	45.0	47.0					X																	40569291		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1113G>A	X.37:g.40569291C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMR7|Q9UNB3	Silent	SNP	pfam_Mediator_Med14	p.Q371	ENST00000324817.1	37	c.1113	CCDS14254.1	X																																																																																			MED14	-	NULL	ENSG00000180182		0.338	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	66	0.00	0	C	NM_004229		40569291	40569291	-1	no_errors	ENST00000324817	ensembl	human	known	69_37n	silent	74	24.49	24	SNP	1.000	T
MEP1A	4224	genome.wustl.edu	37	6	46806828	46806828	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:46806828G>C	ENST00000230588.4	+	14	2205	c.2196G>C	c.(2194-2196)ttG>ttC	p.L732F		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	732					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGATCTTCTTGACCTTCTCCA	0.597																																						dbGAP											0													104.0	85.0	91.0					6																	46806828		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2196G>C	6.37:g.46806828G>C	ENSP00000230588:p.Leu732Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.L732F	ENST00000230588.4	37	c.2196	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928225	0.34002	.	.	ENSG00000112818	ENST00000230588	T	0.33654	1.4	5.8	4.04	0.47022	.	0.124501	0.51477	D	0.000091	T	0.33731	0.0873	L	0.52011	1.625	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.65233	0.933;0.927	T	0.31447	-0.9943	10	0.87932	D	0	-11.5019	5.3397	0.15976	0.2327:0.2641:0.5033:0.0	.	760;732	B7ZL91;Q16819	.;MEP1A_HUMAN	F	732	ENSP00000230588:L732F	ENSP00000230588:L732F	L	+	3	2	MEP1A	46914787	1.000000	0.71417	0.949000	0.38748	0.049000	0.14656	1.166000	0.31834	0.825000	0.34637	-0.142000	0.14014	TTG	MEP1A	-	pirsf_Pept_M12A_Meprin	ENSG00000112818		0.597	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	63	0.00	0	G	NM_005588		46806828	46806828	+1	no_errors	ENST00000230588	ensembl	human	known	69_37n	missense	35	38.60	22	SNP	0.979	C
MEP1A	4224	genome.wustl.edu	37	6	46806828	46806828	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:46806828G>C	ENST00000230588.4	+	14	2205	c.2196G>C	c.(2194-2196)ttG>ttC	p.L732F		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	732					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGATCTTCTTGACCTTCTCCA	0.597																																						dbGAP											0													104.0	85.0	91.0					6																	46806828		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2196G>C	6.37:g.46806828G>C	ENSP00000230588:p.Leu732Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.L732F	ENST00000230588.4	37	c.2196	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928225	0.34002	.	.	ENSG00000112818	ENST00000230588	T	0.33654	1.4	5.8	4.04	0.47022	.	0.124501	0.51477	D	0.000091	T	0.33731	0.0873	L	0.52011	1.625	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.65233	0.933;0.927	T	0.31447	-0.9943	10	0.87932	D	0	-11.5019	5.3397	0.15976	0.2327:0.2641:0.5033:0.0	.	760;732	B7ZL91;Q16819	.;MEP1A_HUMAN	F	732	ENSP00000230588:L732F	ENSP00000230588:L732F	L	+	3	2	MEP1A	46914787	1.000000	0.71417	0.949000	0.38748	0.049000	0.14656	1.166000	0.31834	0.825000	0.34637	-0.142000	0.14014	TTG	MEP1A	-	pirsf_Pept_M12A_Meprin	ENSG00000112818		0.597	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	37	0.00	0	G	NM_005588		46806828	46806828	+1	no_errors	ENST00000230588	ensembl	human	known	69_37n	missense	35	38.60	22	SNP	0.979	C
MIR519A2	574500	genome.wustl.edu	37	19	54264407	54264407	+	lincRNA	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:54264407G>A	ENST00000384990.1	+	0	0				MIR516A2_ENST00000384888.1_RNA|MIR1283-2_ENST00000408621.1_RNA|RNU6-1041P_ENST00000516254.1_RNA	NR_030222.1				microRNA 519a-2																		TGACCTTCTCGAGGAAAGAAG	0.413																																						dbGAP											0													110.0	100.0	103.0					19																	54264407		1568	3582	5150	-	-	-			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207723			"""ncRNAs / Micro RNAs"""	32132	non-coding RNA	RNA, micro				MIRN519A-2, MIRN519A2			Standard	NR_030222		Approved	hsa-mir-519a-2	uc021vaz.1				19.37:g.54264407G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000384990.1	37	NULL		19																																																																																			MIR516A2	-	-	ENSG00000207620		0.413	MIR519A2-201	KNOWN	basic	miRNA	MIR516A2	HGNC	lincRNA		460	0.22	1	G	NR_030222		54264407	54264407	+1	no_errors	ENST00000384888	ensembl	human	known	69_37n	rna	226	23.91	71	SNP	0.007	A
MIR519A2	574500	genome.wustl.edu	37	19	54264407	54264407	+	lincRNA	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:54264407G>A	ENST00000384990.1	+	0	0				MIR516A2_ENST00000384888.1_RNA|MIR1283-2_ENST00000408621.1_RNA|RNU6-1041P_ENST00000516254.1_RNA	NR_030222.1				microRNA 519a-2																		TGACCTTCTCGAGGAAAGAAG	0.413																																						dbGAP											0													110.0	100.0	103.0					19																	54264407		1568	3582	5150	-	-	-			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207723			"""ncRNAs / Micro RNAs"""	32132	non-coding RNA	RNA, micro				MIRN519A-2, MIRN519A2			Standard	NR_030222		Approved	hsa-mir-519a-2	uc021vaz.1				19.37:g.54264407G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000384990.1	37	NULL		19																																																																																			MIR516A2	-	-	ENSG00000207620		0.413	MIR519A2-201	KNOWN	basic	miRNA	MIR516A2	HGNC	lincRNA		182	0.00	0	G	NR_030222		54264407	54264407	+1	no_errors	ENST00000384888	ensembl	human	known	69_37n	rna	226	23.91	71	SNP	0.007	A
MLH3	27030	genome.wustl.edu	37	14	75515335	75515335	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr14:75515335C>T	ENST00000556740.1	-	1	1059	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	MLH3_ENST00000556257.1_Missense_Mutation_p.E342K|MLH3_ENST00000355774.2_Missense_Mutation_p.E342K|MLH3_ENST00000238662.7_Missense_Mutation_p.E342K|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	342					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTCACTCCTTCCTGAATGCAA	0.348								Mismatch excision repair (MMR)																														dbGAP											0													65.0	66.0	66.0					14																	75515335		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1024G>A	14.37:g.75515335C>T	ENSP00000452316:p.Glu342Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.E342K	ENST00000556740.1	37	c.1024	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690173	0.68271	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.75	5.75	0.90469	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.89755	0.3943	10	0.66056	D	0.02	-20.1883	19.9598	0.97242	0.0:1.0:0.0:0.0	.	342;342	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	K	342	ENSP00000348020:E342K;ENSP00000238662:E342K;ENSP00000451540:E342K;ENSP00000452316:E342K	ENSP00000238662:E342K	E	-	1	0	MLH3	74585088	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.917000	0.63369	2.716000	0.92895	0.655000	0.94253	GAA	MLH3	-	pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000119684		0.348	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	166	0.00	0	C	NM_014381		75515335	75515335	-1	no_errors	ENST00000355774	ensembl	human	known	69_37n	missense	127	30.98	57	SNP	1.000	T
MLH3	27030	genome.wustl.edu	37	14	75515335	75515335	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr14:75515335C>T	ENST00000556740.1	-	1	1059	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	MLH3_ENST00000556257.1_Missense_Mutation_p.E342K|MLH3_ENST00000355774.2_Missense_Mutation_p.E342K|MLH3_ENST00000238662.7_Missense_Mutation_p.E342K|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	342					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTCACTCCTTCCTGAATGCAA	0.348								Mismatch excision repair (MMR)																														dbGAP											0													65.0	66.0	66.0					14																	75515335		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1024G>A	14.37:g.75515335C>T	ENSP00000452316:p.Glu342Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.E342K	ENST00000556740.1	37	c.1024	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690173	0.68271	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.75	5.75	0.90469	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.89755	0.3943	10	0.66056	D	0.02	-20.1883	19.9598	0.97242	0.0:1.0:0.0:0.0	.	342;342	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	K	342	ENSP00000348020:E342K;ENSP00000238662:E342K;ENSP00000451540:E342K;ENSP00000452316:E342K	ENSP00000238662:E342K	E	-	1	0	MLH3	74585088	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.917000	0.63369	2.716000	0.92895	0.655000	0.94253	GAA	MLH3	-	pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000119684		0.348	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	157	0.00	0	C	NM_014381		75515335	75515335	-1	no_errors	ENST00000355774	ensembl	human	known	69_37n	missense	127	30.98	57	SNP	1.000	T
MLIP	90523	genome.wustl.edu	37	6	54066989	54066989	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:54066989C>T	ENST00000274897.5	+	10	1184	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	MLIP_ENST00000358276.5_Silent_p.F257F|MLIP_ENST00000502396.1_Silent_p.F892F|MLIP_ENST00000370876.2_Silent_p.F201F|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Silent_p.F253F|MLIP_ENST00000514921.1_Silent_p.F881F|MLIP_ENST00000509997.1_Silent_p.F211F	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	357						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCAACCCTTTCAGTAAATACT	0.338																																						dbGAP											0													79.0	81.0	80.0					6																	54066989		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1071C>T	6.37:g.54066989C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	NULL	p.F357	ENST00000274897.5	37	c.1071	CCDS4954.1	6																																																																																			MLIP	-	NULL	ENSG00000146147		0.338	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	91	0.00	0	C	NM_138569		54066989	54066989	+1	no_errors	ENST00000274897	ensembl	human	known	69_37n	silent	158	29.15	65	SNP	1.000	T
MLIP	90523	genome.wustl.edu	37	6	54066989	54066989	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:54066989C>T	ENST00000274897.5	+	10	1184	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	MLIP_ENST00000358276.5_Silent_p.F257F|MLIP_ENST00000502396.1_Silent_p.F892F|MLIP_ENST00000370876.2_Silent_p.F201F|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Silent_p.F253F|MLIP_ENST00000514921.1_Silent_p.F881F|MLIP_ENST00000509997.1_Silent_p.F211F	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	357						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCAACCCTTTCAGTAAATACT	0.338																																						dbGAP											0													79.0	81.0	80.0					6																	54066989		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1071C>T	6.37:g.54066989C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	NULL	p.F357	ENST00000274897.5	37	c.1071	CCDS4954.1	6																																																																																			MLIP	-	NULL	ENSG00000146147		0.338	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	193	0.00	0	C	NM_138569		54066989	54066989	+1	no_errors	ENST00000274897	ensembl	human	known	69_37n	silent	158	29.15	65	SNP	1.000	T
MLLT4	4301	genome.wustl.edu	37	6	168352759	168352759	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:168352759G>C	ENST00000447894.2	+	29	4704	c.4704G>C	c.(4702-4704)aaG>aaC	p.K1568N	MLLT4_ENST00000366806.2_Missense_Mutation_p.K1568N|MLLT4_ENST00000351017.4_Missense_Mutation_p.K1575N|MLLT4_ENST00000400822.3_Missense_Mutation_p.K1567N|MLLT4_ENST00000344191.4_Missense_Mutation_p.K1568N|MLLT4_ENST00000392112.1_Missense_Mutation_p.K1551N|MLLT4_ENST00000392108.3_Missense_Mutation_p.K1568N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1568					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTTCCAGAAGAGACTCCagg	0.597			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													64.0	55.0	58.0					6																	168352759		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4704G>C	6.37:g.168352759G>C	ENSP00000404595:p.Lys1568Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.K1568N	ENST00000447894.2	37	c.4704		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.055555|4.055555	0.75960|0.75960	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000507704;ENST00000476946	T;T;T;T;T;T;T|.	0.50001|.	3.46;0.89;3.41;0.89;0.89;0.76;0.89|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66771|0.66771	0.2823|0.2823	M|M	0.73962|0.73962	2.25|2.25	0.47374|0.47374	D|D	0.999402|0.999402	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.996;0.999;0.997;0.997|.	T|T	0.68070|0.68070	-0.5506|-0.5506	10|5	0.87932|.	D|.	0|.	-19.1569|-19.1569	13.3676|13.3676	0.60694|0.60694	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	1568;1567;1568;1552|.	P55196;P55196-5;P55196-6;P55196-2|.	AFAD_HUMAN;.;.;.|.	N|T	1568;1575;1568;1568;1551;1568;1567;1568|59;44	ENSP00000341118:K1568N;ENSP00000252692:K1575N;ENSP00000375956:K1568N;ENSP00000355771:K1568N;ENSP00000375960:K1551N;ENSP00000383623:K1567N;ENSP00000404595:K1568N|.	ENSP00000345834:K1568N|.	K|R	+|+	3|2	2|0	MLLT4|MLLT4	168095608|168095608	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.979000|0.979000	0.70002|0.70002	2.842000|2.842000	0.48230|0.48230	2.492000|2.492000	0.84095|0.84095	0.655000|0.655000	0.94253|0.94253	AAG|AGA	MLLT4	-	NULL	ENSG00000130396		0.597	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	39	0.00	0	G	NM_005936		168352759	168352759	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	missense	68	23.60	21	SNP	1.000	C
MLLT4	4301	genome.wustl.edu	37	6	168352759	168352759	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:168352759G>C	ENST00000447894.2	+	29	4704	c.4704G>C	c.(4702-4704)aaG>aaC	p.K1568N	MLLT4_ENST00000366806.2_Missense_Mutation_p.K1568N|MLLT4_ENST00000351017.4_Missense_Mutation_p.K1575N|MLLT4_ENST00000400822.3_Missense_Mutation_p.K1567N|MLLT4_ENST00000344191.4_Missense_Mutation_p.K1568N|MLLT4_ENST00000392112.1_Missense_Mutation_p.K1551N|MLLT4_ENST00000392108.3_Missense_Mutation_p.K1568N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1568					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTTCCAGAAGAGACTCCagg	0.597			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													64.0	55.0	58.0					6																	168352759		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4704G>C	6.37:g.168352759G>C	ENSP00000404595:p.Lys1568Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.K1568N	ENST00000447894.2	37	c.4704		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.055555|4.055555	0.75960|0.75960	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000507704;ENST00000476946	T;T;T;T;T;T;T|.	0.50001|.	3.46;0.89;3.41;0.89;0.89;0.76;0.89|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66771|0.66771	0.2823|0.2823	M|M	0.73962|0.73962	2.25|2.25	0.47374|0.47374	D|D	0.999402|0.999402	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.996;0.999;0.997;0.997|.	T|T	0.68070|0.68070	-0.5506|-0.5506	10|5	0.87932|.	D|.	0|.	-19.1569|-19.1569	13.3676|13.3676	0.60694|0.60694	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	1568;1567;1568;1552|.	P55196;P55196-5;P55196-6;P55196-2|.	AFAD_HUMAN;.;.;.|.	N|T	1568;1575;1568;1568;1551;1568;1567;1568|59;44	ENSP00000341118:K1568N;ENSP00000252692:K1575N;ENSP00000375956:K1568N;ENSP00000355771:K1568N;ENSP00000375960:K1551N;ENSP00000383623:K1567N;ENSP00000404595:K1568N|.	ENSP00000345834:K1568N|.	K|R	+|+	3|2	2|0	MLLT4|MLLT4	168095608|168095608	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.979000|0.979000	0.70002|0.70002	2.842000|2.842000	0.48230|0.48230	2.492000|2.492000	0.84095|0.84095	0.655000|0.655000	0.94253|0.94253	AAG|AGA	MLLT4	-	NULL	ENSG00000130396		0.597	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	109	0.00	0	G	NM_005936		168352759	168352759	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	missense	68	23.60	21	SNP	1.000	C
MSL3	10943	genome.wustl.edu	37	X	11779010	11779010	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:11779010C>G	ENST00000312196.4	+	4	441	c.336C>G	c.(334-336)gtC>gtG	p.V112V	MSL3_ENST00000380693.3_5'UTR|MSL3_ENST00000361672.2_5'UTR|MSL3_ENST00000398527.2_Silent_p.V100V|MSL3_ENST00000337339.2_Silent_p.V112V	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	112					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TGGACTCTGTCTTAAAAGGCC	0.418																																						dbGAP											0													62.0	57.0	59.0					X																	11779010		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.336C>G	X.37:g.11779010C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	pfam_MRG	p.L27V	ENST00000312196.4	37	c.79	CCDS14147.1	X																																																																																			MSL3	-	NULL	ENSG00000005302		0.418	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL3	HGNC	protein_coding	OTTHUMT00000055757.1	11	0.00	0	C	NM_006800		11779010	11779010	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000487782	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	0.996	G
MSL3	10943	genome.wustl.edu	37	X	11779010	11779010	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:11779010C>G	ENST00000312196.4	+	4	441	c.336C>G	c.(334-336)gtC>gtG	p.V112V	MSL3_ENST00000380693.3_5'UTR|MSL3_ENST00000361672.2_5'UTR|MSL3_ENST00000398527.2_Silent_p.V100V|MSL3_ENST00000337339.2_Silent_p.V112V	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	112					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TGGACTCTGTCTTAAAAGGCC	0.418																																						dbGAP											0													62.0	57.0	59.0					X																	11779010		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.336C>G	X.37:g.11779010C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	pfam_MRG	p.L27V	ENST00000312196.4	37	c.79	CCDS14147.1	X																																																																																			MSL3	-	NULL	ENSG00000005302		0.418	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL3	HGNC	protein_coding	OTTHUMT00000055757.1	27	0.00	0	C	NM_006800		11779010	11779010	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000487782	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	0.996	G
MTMR8	55613	genome.wustl.edu	37	X	63548723	63548723	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:63548723G>A	ENST00000374852.3	-	12	1477	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	MTMR8_ENST00000478487.1_5'Flank|MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	470	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GAGGGTTCCTGAAGTCTGGTT	0.393																																						dbGAP											1	Whole gene deletion(1)	ovary(1)											107.0	93.0	98.0					X																	63548723		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1410C>T	X.37:g.63548723G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JT99|Q9NXP6	Nonsense_Mutation	SNP	smart_Tyr_Pase_cat	p.Q274*	ENST00000374852.3	37	c.820	CCDS14379.1	X	.	.	.	.	.	.	.	.	.	.	G	8.191	0.795921	0.16327	.	.	ENSG00000102043	ENST00000442913	.	.	.	2.93	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6603	0.05025	0.2849:0.2652:0.4498:0.0	.	.	.	.	X	274	.	.	Q	-	1	0	MTMR8	63465448	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	1.147000	0.31602	1.466000	0.48025	0.506000	0.49869	CAG	MTMR8	-	NULL	ENSG00000102043		0.393	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	HGNC	protein_coding	OTTHUMT00000056949.2	146	0.00	0	G	NM_017677		63548723	63548723	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000442913	ensembl	human	known	69_37n	nonsense	182	29.46	76	SNP	0.998	A
MTMR8	55613	genome.wustl.edu	37	X	63548723	63548723	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:63548723G>A	ENST00000374852.3	-	12	1477	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	MTMR8_ENST00000478487.1_5'Flank|MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	470	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GAGGGTTCCTGAAGTCTGGTT	0.393																																						dbGAP											1	Whole gene deletion(1)	ovary(1)											107.0	93.0	98.0					X																	63548723		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1410C>T	X.37:g.63548723G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JT99|Q9NXP6	Nonsense_Mutation	SNP	smart_Tyr_Pase_cat	p.Q274*	ENST00000374852.3	37	c.820	CCDS14379.1	X	.	.	.	.	.	.	.	.	.	.	G	8.191	0.795921	0.16327	.	.	ENSG00000102043	ENST00000442913	.	.	.	2.93	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6603	0.05025	0.2849:0.2652:0.4498:0.0	.	.	.	.	X	274	.	.	Q	-	1	0	MTMR8	63465448	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	1.147000	0.31602	1.466000	0.48025	0.506000	0.49869	CAG	MTMR8	-	NULL	ENSG00000102043		0.393	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	HGNC	protein_coding	OTTHUMT00000056949.2	125	0.00	0	G	NM_017677		63548723	63548723	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000442913	ensembl	human	known	69_37n	nonsense	182	29.46	76	SNP	0.998	A
MTOR	2475	genome.wustl.edu	37	1	11317097	11317097	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:11317097G>C	ENST00000361445.4	-	4	473	c.397C>G	c.(397-399)Ctt>Gtt	p.L133V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	133	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCCATGGCAAGACGGCCAATG	0.557																																						dbGAP											0													81.0	66.0	71.0					1																	11317097		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.397C>G	1.37:g.11317097G>C	ENSP00000354558:p.Leu133Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L133V	ENST00000361445.4	37	c.397	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589622	0.86851	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.69561	-0.41	5.21	5.21	0.72293	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.79076	0.4385	M	0.90542	3.125	0.80722	D	1	D	0.52996	0.957	P	0.47981	0.563	D	0.84547	0.0642	10	0.62326	D	0.03	-7.4446	18.7499	0.91810	0.0:0.0:1.0:0.0	.	133	P42345	MTOR_HUMAN	V	133	ENSP00000354558:L133V	ENSP00000354558:L133V	L	-	1	0	MTOR	11239684	1.000000	0.71417	0.979000	0.43373	0.829000	0.46940	7.590000	0.82653	2.427000	0.82271	0.557000	0.71058	CTT	MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.557	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	62	0.00	0	G	NM_004958		11317097	11317097	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	missense	8	55.56	10	SNP	1.000	C
MTOR	2475	genome.wustl.edu	37	1	11317097	11317097	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:11317097G>C	ENST00000361445.4	-	4	473	c.397C>G	c.(397-399)Ctt>Gtt	p.L133V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	133	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCCATGGCAAGACGGCCAATG	0.557																																						dbGAP											0													81.0	66.0	71.0					1																	11317097		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.397C>G	1.37:g.11317097G>C	ENSP00000354558:p.Leu133Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L133V	ENST00000361445.4	37	c.397	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589622	0.86851	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.69561	-0.41	5.21	5.21	0.72293	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.79076	0.4385	M	0.90542	3.125	0.80722	D	1	D	0.52996	0.957	P	0.47981	0.563	D	0.84547	0.0642	10	0.62326	D	0.03	-7.4446	18.7499	0.91810	0.0:0.0:1.0:0.0	.	133	P42345	MTOR_HUMAN	V	133	ENSP00000354558:L133V	ENSP00000354558:L133V	L	-	1	0	MTOR	11239684	1.000000	0.71417	0.979000	0.43373	0.829000	0.46940	7.590000	0.82653	2.427000	0.82271	0.557000	0.71058	CTT	MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.557	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	32	0.00	0	G	NM_004958		11317097	11317097	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	missense	8	55.56	10	SNP	1.000	C
MYCBP2	23077	genome.wustl.edu	37	13	77692650	77692650	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr13:77692650C>G	ENST00000360084.5	-	57	8123	c.420G>C	c.(418-420)ttG>ttC	p.L140F	MYCBP2_ENST00000357337.6_Intron|MYCBP2_ENST00000407578.2_Intron|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000544440.2_Intron					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTAAAACAGTCAAAACTACAA	0.393																																						dbGAP											0													44.0	42.0	42.0					13																	77692650		876	1991	2867	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000360084.5:c.420G>C	13.37:g.77692650C>G	ENSP00000353197:p.Leu140Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L140F	ENST00000360084.5	37	c.420		13	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822643	0.71028	.	.	ENSG00000005810	ENST00000360084	T	0.48201	0.82	5.82	4.97	0.65823	.	.	.	.	.	T	0.55816	0.1944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56745	-0.7928	6	0.49607	T	0.09	.	10.3384	0.43862	0.0:0.794:0.1361:0.0699	.	.	.	.	F	140	ENSP00000353197:L140F	ENSP00000353197:L140F	L	-	3	2	MYCBP2	76590651	0.609000	0.26975	1.000000	0.80357	0.840000	0.47671	0.988000	0.29616	1.451000	0.47736	0.650000	0.86243	TTG	MYCBP2	-	NULL	ENSG00000005810		0.393	MYCBP2-202	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding		28	0.00	0	C	NM_015057		77692650	77692650	-1	no_stop_codon	ENST00000360084	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	1.000	G
MYCBP2	23077	genome.wustl.edu	37	13	77692650	77692650	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr13:77692650C>G	ENST00000360084.5	-	57	8123	c.420G>C	c.(418-420)ttG>ttC	p.L140F	MYCBP2_ENST00000357337.6_Intron|MYCBP2_ENST00000407578.2_Intron|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000544440.2_Intron					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTAAAACAGTCAAAACTACAA	0.393																																						dbGAP											0													44.0	42.0	42.0					13																	77692650		876	1991	2867	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000360084.5:c.420G>C	13.37:g.77692650C>G	ENSP00000353197:p.Leu140Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L140F	ENST00000360084.5	37	c.420		13	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822643	0.71028	.	.	ENSG00000005810	ENST00000360084	T	0.48201	0.82	5.82	4.97	0.65823	.	.	.	.	.	T	0.55816	0.1944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56745	-0.7928	6	0.49607	T	0.09	.	10.3384	0.43862	0.0:0.794:0.1361:0.0699	.	.	.	.	F	140	ENSP00000353197:L140F	ENSP00000353197:L140F	L	-	3	2	MYCBP2	76590651	0.609000	0.26975	1.000000	0.80357	0.840000	0.47671	0.988000	0.29616	1.451000	0.47736	0.650000	0.86243	TTG	MYCBP2	-	NULL	ENSG00000005810		0.393	MYCBP2-202	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding		50	0.00	0	C	NM_015057		77692650	77692650	-1	no_stop_codon	ENST00000360084	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	1.000	G
MYEF2	50804	genome.wustl.edu	37	15	48443305	48443305	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr15:48443305G>C	ENST00000324324.7	-	14	1649	c.1370C>G	c.(1369-1371)tCt>tGt	p.S457C	MYEF2_ENST00000267836.6_Intron	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	457	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ACTTATTCCAGATCCTACTGG	0.328																																						dbGAP											0													73.0	75.0	74.0					15																	48443305		2198	4293	6491	-	-	-	SO:0001583	missense	0			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1370C>G	15.37:g.48443305G>C	ENSP00000316950:p.Ser457Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S457C	ENST00000324324.7	37	c.1370	CCDS32230.1	15	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124973	0.37533	.	.	ENSG00000104177	ENST00000324324	T	0.38077	1.16	5.55	4.62	0.57501	.	0.462460	0.26079	N	0.026462	T	0.33556	0.0867	L	0.55481	1.735	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11567	-1.0582	10	0.41790	T	0.15	-0.0386	11.4978	0.50419	0.0687:0.1264:0.8048:0.0	.	457	Q9P2K5	MYEF2_HUMAN	C	457	ENSP00000316950:S457C	ENSP00000316950:S457C	S	-	2	0	MYEF2	46230597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.675000	0.54605	1.545000	0.49373	0.655000	0.94253	TCT	MYEF2	-	NULL	ENSG00000104177		0.328	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYEF2	HGNC	protein_coding	OTTHUMT00000416909.2	157	0.00	0	G	NM_016132		48443305	48443305	-1	no_errors	ENST00000324324	ensembl	human	known	69_37n	missense	196	32.07	93	SNP	1.000	C
MYEF2	50804	genome.wustl.edu	37	15	48443305	48443305	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr15:48443305G>C	ENST00000324324.7	-	14	1649	c.1370C>G	c.(1369-1371)tCt>tGt	p.S457C	MYEF2_ENST00000267836.6_Intron	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	457	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ACTTATTCCAGATCCTACTGG	0.328																																						dbGAP											0													73.0	75.0	74.0					15																	48443305		2198	4293	6491	-	-	-	SO:0001583	missense	0			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1370C>G	15.37:g.48443305G>C	ENSP00000316950:p.Ser457Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S457C	ENST00000324324.7	37	c.1370	CCDS32230.1	15	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124973	0.37533	.	.	ENSG00000104177	ENST00000324324	T	0.38077	1.16	5.55	4.62	0.57501	.	0.462460	0.26079	N	0.026462	T	0.33556	0.0867	L	0.55481	1.735	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11567	-1.0582	10	0.41790	T	0.15	-0.0386	11.4978	0.50419	0.0687:0.1264:0.8048:0.0	.	457	Q9P2K5	MYEF2_HUMAN	C	457	ENSP00000316950:S457C	ENSP00000316950:S457C	S	-	2	0	MYEF2	46230597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.675000	0.54605	1.545000	0.49373	0.655000	0.94253	TCT	MYEF2	-	NULL	ENSG00000104177		0.328	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYEF2	HGNC	protein_coding	OTTHUMT00000416909.2	215	0.00	0	G	NM_016132		48443305	48443305	-1	no_errors	ENST00000324324	ensembl	human	known	69_37n	missense	196	32.07	93	SNP	1.000	C
MYH15	22989	genome.wustl.edu	37	3	108107918	108107918	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr3:108107918G>A	ENST00000273353.3	-	39	5550	c.5494C>T	c.(5494-5496)Cgt>Tgt	p.R1832C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1832						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1832S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCAGTTCACGAACCTGCAAC	0.517																																						dbGAP											1	Substitution - Missense(1)	lung(1)											93.0	97.0	96.0					3																	108107918		2096	4215	6311	-	-	-	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5494C>T	3.37:g.108107918G>A	ENSP00000273353:p.Arg1832Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R1832C	ENST00000273353.3	37	c.5494	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666386	0.88251	.	.	ENSG00000144821	ENST00000273353	D	0.81579	-1.51	5.81	-1.56	0.08532	Myosin tail (1);	.	.	.	.	D	0.89019	0.6596	M	0.91872	3.25	0.09310	N	0.999994	D	0.76494	0.999	D	0.70487	0.969	T	0.79526	-0.1767	9	0.87932	D	0	.	6.9801	0.24698	0.3855:0.1076:0.5069:0.0	.	1832	Q9Y2K3	MYH15_HUMAN	C	1832	ENSP00000273353:R1832C	ENSP00000273353:R1832C	R	-	1	0	MYH15	109590608	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-0.100000	0.10990	-0.678000	0.05224	0.655000	0.94253	CGT	MYH15	-	pfam_Myosin_tail	ENSG00000144821		0.517	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	167	0.00	0	G	XM_036988		108107918	108107918	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	missense	84	32.80	41	SNP	0.000	A
MYH15	22989	genome.wustl.edu	37	3	108107918	108107918	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr3:108107918G>A	ENST00000273353.3	-	39	5550	c.5494C>T	c.(5494-5496)Cgt>Tgt	p.R1832C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1832						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1832S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCAGTTCACGAACCTGCAAC	0.517																																						dbGAP											1	Substitution - Missense(1)	lung(1)											93.0	97.0	96.0					3																	108107918		2096	4215	6311	-	-	-	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5494C>T	3.37:g.108107918G>A	ENSP00000273353:p.Arg1832Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R1832C	ENST00000273353.3	37	c.5494	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666386	0.88251	.	.	ENSG00000144821	ENST00000273353	D	0.81579	-1.51	5.81	-1.56	0.08532	Myosin tail (1);	.	.	.	.	D	0.89019	0.6596	M	0.91872	3.25	0.09310	N	0.999994	D	0.76494	0.999	D	0.70487	0.969	T	0.79526	-0.1767	9	0.87932	D	0	.	6.9801	0.24698	0.3855:0.1076:0.5069:0.0	.	1832	Q9Y2K3	MYH15_HUMAN	C	1832	ENSP00000273353:R1832C	ENSP00000273353:R1832C	R	-	1	0	MYH15	109590608	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-0.100000	0.10990	-0.678000	0.05224	0.655000	0.94253	CGT	MYH15	-	pfam_Myosin_tail	ENSG00000144821		0.517	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	83	0.00	0	G	XM_036988		108107918	108107918	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	missense	84	32.80	41	SNP	0.000	A
NALCN	259232	genome.wustl.edu	37	13	101910796	101910796	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr13:101910796C>T	ENST00000251127.6	-	11	1345	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.E422K	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	422					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.E422*(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGCTTACCTCCGCCAGGTAG	0.542																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											69.0	51.0	57.0					13																	101910796		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1264G>A	13.37:g.101910796C>T	ENSP00000251127:p.Glu422Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E422K	ENST00000251127.6	37	c.1264	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725817	0.89298	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.97976	-4.64;-4.64	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	M	0.90198	3.095	0.80722	D	1	D;D;D	0.69078	0.995;0.994;0.997	D;D;D	0.70716	0.958;0.935;0.97	D	0.99331	1.0909	10	0.62326	D	0.03	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	422;422;422	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	K	422	ENSP00000251127:E422K;ENSP00000365367:E422K	ENSP00000251127:E422K	E	-	1	0	NALCN	100708797	1.000000	0.71417	0.999000	0.59377	0.250000	0.25880	7.398000	0.79919	2.884000	0.98904	0.655000	0.94253	GAG	NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.542	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	78	0.00	0	C	NM_052867		101910796	101910796	-1	no_errors	ENST00000251127	ensembl	human	known	69_37n	missense	47	38.16	29	SNP	1.000	T
NALCN	259232	genome.wustl.edu	37	13	101910796	101910796	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr13:101910796C>T	ENST00000251127.6	-	11	1345	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.E422K	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	422					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.E422*(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGCTTACCTCCGCCAGGTAG	0.542																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											69.0	51.0	57.0					13																	101910796		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1264G>A	13.37:g.101910796C>T	ENSP00000251127:p.Glu422Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E422K	ENST00000251127.6	37	c.1264	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725817	0.89298	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.97976	-4.64;-4.64	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	M	0.90198	3.095	0.80722	D	1	D;D;D	0.69078	0.995;0.994;0.997	D;D;D	0.70716	0.958;0.935;0.97	D	0.99331	1.0909	10	0.62326	D	0.03	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	422;422;422	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	K	422	ENSP00000251127:E422K;ENSP00000365367:E422K	ENSP00000251127:E422K	E	-	1	0	NALCN	100708797	1.000000	0.71417	0.999000	0.59377	0.250000	0.25880	7.398000	0.79919	2.884000	0.98904	0.655000	0.94253	GAG	NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.542	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	41	0.00	0	C	NM_052867		101910796	101910796	-1	no_errors	ENST00000251127	ensembl	human	known	69_37n	missense	47	38.16	29	SNP	1.000	T
NAV1	89796	genome.wustl.edu	37	1	201751591	201751591	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:201751591G>A	ENST00000367296.4	+	6	2371	c.1951G>A	c.(1951-1953)Gtt>Att	p.V651I	NAV1_ENST00000367295.1_Missense_Mutation_p.V260I|NAV1_ENST00000295624.6_Missense_Mutation_p.V651I|NAV1_ENST00000367302.1_Missense_Mutation_p.V664I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.V651I|NAV1_ENST00000367300.3_Missense_Mutation_p.V651I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	651					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TAGCTTAGATGTTTCCAACAG	0.547																																						dbGAP											0													81.0	85.0	83.0					1																	201751591		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1951G>A	1.37:g.201751591G>A	ENSP00000356265:p.Val651Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.V651I	ENST00000367296.4	37	c.1951	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.112272|4.112272	0.77210|0.77210	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.41758	.|0.99;0.99;0.99;0.99;0.99;0.99	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.058965	.|0.64402	.|D	.|0.000002	T|T	0.51753|0.51753	0.1693|0.1693	L|L	0.50333|0.50333	1.59|1.59	0.47037|0.47037	D|D	0.999295|0.999295	.|B;D;B;P;B	.|0.54601	.|0.449;0.967;0.21;0.461;0.252	.|B;P;B;B;B	.|0.50708	.|0.13;0.648;0.046;0.145;0.066	T|T	0.50583|0.50583	-0.8811|-0.8811	5|10	.|0.59425	.|D	.|0.04	-32.3391|-32.3391	19.6713|19.6713	0.95912|0.95912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|651;260;651;159;651	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	Y|I	208|664;651;651;651;651;159;260	.|ENSP00000356271:V664I;ENSP00000356265:V651I;ENSP00000295624:V651I;ENSP00000356266:V651I;ENSP00000356269:V651I;ENSP00000356264:V260I	.|ENSP00000295624:V651I	C|V	+|+	2|1	0|0	NAV1|NAV1	200018214|200018214	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.980000|0.980000	0.70556|0.70556	9.741000|9.741000	0.98843|0.98843	2.755000|2.755000	0.94549|0.94549	0.655000|0.655000	0.94253|0.94253	TGT|GTT	NAV1	-	NULL	ENSG00000134369		0.547	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	235	0.00	0	G	NM_020443		201751591	201751591	+1	no_errors	ENST00000367296	ensembl	human	known	69_37n	missense	266	32.66	129	SNP	1.000	A
NAV1	89796	genome.wustl.edu	37	1	201751591	201751591	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:201751591G>A	ENST00000367296.4	+	6	2371	c.1951G>A	c.(1951-1953)Gtt>Att	p.V651I	NAV1_ENST00000367295.1_Missense_Mutation_p.V260I|NAV1_ENST00000295624.6_Missense_Mutation_p.V651I|NAV1_ENST00000367302.1_Missense_Mutation_p.V664I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.V651I|NAV1_ENST00000367300.3_Missense_Mutation_p.V651I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	651					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TAGCTTAGATGTTTCCAACAG	0.547																																						dbGAP											0													81.0	85.0	83.0					1																	201751591		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1951G>A	1.37:g.201751591G>A	ENSP00000356265:p.Val651Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.V651I	ENST00000367296.4	37	c.1951	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.112272|4.112272	0.77210|0.77210	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.41758	.|0.99;0.99;0.99;0.99;0.99;0.99	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.058965	.|0.64402	.|D	.|0.000002	T|T	0.51753|0.51753	0.1693|0.1693	L|L	0.50333|0.50333	1.59|1.59	0.47037|0.47037	D|D	0.999295|0.999295	.|B;D;B;P;B	.|0.54601	.|0.449;0.967;0.21;0.461;0.252	.|B;P;B;B;B	.|0.50708	.|0.13;0.648;0.046;0.145;0.066	T|T	0.50583|0.50583	-0.8811|-0.8811	5|10	.|0.59425	.|D	.|0.04	-32.3391|-32.3391	19.6713|19.6713	0.95912|0.95912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|651;260;651;159;651	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	Y|I	208|664;651;651;651;651;159;260	.|ENSP00000356271:V664I;ENSP00000356265:V651I;ENSP00000295624:V651I;ENSP00000356266:V651I;ENSP00000356269:V651I;ENSP00000356264:V260I	.|ENSP00000295624:V651I	C|V	+|+	2|1	0|0	NAV1|NAV1	200018214|200018214	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.980000|0.980000	0.70556|0.70556	9.741000|9.741000	0.98843|0.98843	2.755000|2.755000	0.94549|0.94549	0.655000|0.655000	0.94253|0.94253	TGT|GTT	NAV1	-	NULL	ENSG00000134369		0.547	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	354	0.00	0	G	NM_020443		201751591	201751591	+1	no_errors	ENST00000367296	ensembl	human	known	69_37n	missense	266	32.66	129	SNP	1.000	A
NAV3	89795	genome.wustl.edu	37	12	78598796	78598796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr12:78598796C>T	ENST00000397909.2	+	39	7089	c.6916C>T	c.(6916-6918)Cag>Tag	p.Q2306*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.Q2107*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Q2284*|NAV3_ENST00000541270.1_Nonsense_Mutation_p.Q136*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Q2284*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2306						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AACTCTGCCTCAGGAGAGCCC	0.502										HNSCC(70;0.22)																												dbGAP											0													73.0	74.0	74.0					12																	78598796		2044	4204	6248	-	-	-	SO:0001587	stop_gained	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6916C>T	12.37:g.78598796C>T	ENSP00000381007:p.Gln2306*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.Q2306*	ENST00000397909.2	37	c.6916		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.28|16.28	3.077751|3.077751	0.55753|0.55753	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270|ENST00000552895;ENST00000551162	.|.	.|.	.|.	5.4|5.4	4.5|4.5	0.54988|0.54988	.|.	0.192955|.	0.25076|.	U|.	0.033324|.	.|T	.|0.63224	.|0.2493	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69316	.|-0.5177	.|3	0.41790|.	T|.	0.15|.	-12.0259|-12.0259	13.5189|13.5189	0.61555|0.61555	0.0:0.9249:0.0:0.0751|0.0:0.9249:0.0:0.0751	.|.	.|.	.|.	.|.	X|L	2284;2306;2284;2107;136|1178;173	.|.	ENSP00000228327:Q2284X|.	Q|S	+|+	1|2	0|0	NAV3|NAV3	77122927|77122927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.043000|0.043000	0.13939|0.13939	3.244000|3.244000	0.51399|0.51399	2.532000|2.532000	0.85374|0.85374	0.591000|0.591000	0.81541|0.81541	CAG|TCA	NAV3	-	NULL	ENSG00000067798		0.502	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	100	0.00	0	C	NM_001024383		78598796	78598796	+1	no_errors	ENST00000397909	ensembl	human	known	69_37n	nonsense	70	30.00	30	SNP	1.000	T
NAV3	89795	genome.wustl.edu	37	12	78598796	78598796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr12:78598796C>T	ENST00000397909.2	+	39	7089	c.6916C>T	c.(6916-6918)Cag>Tag	p.Q2306*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.Q2107*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Q2284*|NAV3_ENST00000541270.1_Nonsense_Mutation_p.Q136*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Q2284*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2306						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AACTCTGCCTCAGGAGAGCCC	0.502										HNSCC(70;0.22)																												dbGAP											0													73.0	74.0	74.0					12																	78598796		2044	4204	6248	-	-	-	SO:0001587	stop_gained	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6916C>T	12.37:g.78598796C>T	ENSP00000381007:p.Gln2306*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.Q2306*	ENST00000397909.2	37	c.6916		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.28|16.28	3.077751|3.077751	0.55753|0.55753	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270|ENST00000552895;ENST00000551162	.|.	.|.	.|.	5.4|5.4	4.5|4.5	0.54988|0.54988	.|.	0.192955|.	0.25076|.	U|.	0.033324|.	.|T	.|0.63224	.|0.2493	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69316	.|-0.5177	.|3	0.41790|.	T|.	0.15|.	-12.0259|-12.0259	13.5189|13.5189	0.61555|0.61555	0.0:0.9249:0.0:0.0751|0.0:0.9249:0.0:0.0751	.|.	.|.	.|.	.|.	X|L	2284;2306;2284;2107;136|1178;173	.|.	ENSP00000228327:Q2284X|.	Q|S	+|+	1|2	0|0	NAV3|NAV3	77122927|77122927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.043000|0.043000	0.13939|0.13939	3.244000|3.244000	0.51399|0.51399	2.532000|2.532000	0.85374|0.85374	0.591000|0.591000	0.81541|0.81541	CAG|TCA	NAV3	-	NULL	ENSG00000067798		0.502	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	50	0.00	0	C	NM_001024383		78598796	78598796	+1	no_errors	ENST00000397909	ensembl	human	known	69_37n	nonsense	70	30.00	30	SNP	1.000	T
NFATC3	4775	genome.wustl.edu	37	16	68224697	68224697	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr16:68224697G>C	ENST00000346183.3	+	9	2149	c.2125G>C	c.(2125-2127)Gag>Cag	p.E709Q	NFATC3_ENST00000349223.5_Missense_Mutation_p.E709Q|NFATC3_ENST00000575270.1_Missense_Mutation_p.E709Q|NFATC3_ENST00000329524.4_Missense_Mutation_p.E709Q|NFATC3_ENST00000535127.2_3'UTR|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	709					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ACACAGAGAAGAGATTGATTT	0.393																																						dbGAP											0													100.0	96.0	97.0					16																	68224697		2198	4300	6498	-	-	-	SO:0001583	missense	0			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2125G>C	16.37:g.68224697G>C	ENSP00000300659:p.Glu709Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E709Q	ENST00000346183.3	37	c.2125	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115357	0.77323	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.11277	2.79;2.8;2.8	5.55	5.55	0.83447	.	0.055107	0.64402	D	0.000001	T	0.27349	0.0671	M	0.65498	2.005	0.47441	D	0.999428	P;P;P;P	0.43287	0.518;0.802;0.518;0.518	B;P;B;B	0.51297	0.358;0.665;0.358;0.358	T	0.00341	-1.1804	10	0.87932	D	0	-3.5838	19.5071	0.95124	0.0:0.0:1.0:0.0	.	709;709;709;709	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Q	709;709;709;230	ENSP00000264008:E709Q;ENSP00000300659:E709Q;ENSP00000331324:E709Q	ENSP00000331324:E709Q	E	+	1	0	NFATC3	66782198	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.230000	0.95299	2.617000	0.88574	0.557000	0.71058	GAG	NFATC3	-	NULL	ENSG00000072736		0.393	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	648	0.00	0	G	NM_004555		68224697	68224697	+1	no_errors	ENST00000346183	ensembl	human	known	69_37n	missense	103	46.63	90	SNP	1.000	C
NFATC3	4775	genome.wustl.edu	37	16	68224697	68224697	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr16:68224697G>C	ENST00000346183.3	+	9	2149	c.2125G>C	c.(2125-2127)Gag>Cag	p.E709Q	NFATC3_ENST00000349223.5_Missense_Mutation_p.E709Q|NFATC3_ENST00000575270.1_Missense_Mutation_p.E709Q|NFATC3_ENST00000329524.4_Missense_Mutation_p.E709Q|NFATC3_ENST00000535127.2_3'UTR|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	709					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ACACAGAGAAGAGATTGATTT	0.393																																						dbGAP											0													100.0	96.0	97.0					16																	68224697		2198	4300	6498	-	-	-	SO:0001583	missense	0			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2125G>C	16.37:g.68224697G>C	ENSP00000300659:p.Glu709Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E709Q	ENST00000346183.3	37	c.2125	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115357	0.77323	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.11277	2.79;2.8;2.8	5.55	5.55	0.83447	.	0.055107	0.64402	D	0.000001	T	0.27349	0.0671	M	0.65498	2.005	0.47441	D	0.999428	P;P;P;P	0.43287	0.518;0.802;0.518;0.518	B;P;B;B	0.51297	0.358;0.665;0.358;0.358	T	0.00341	-1.1804	10	0.87932	D	0	-3.5838	19.5071	0.95124	0.0:0.0:1.0:0.0	.	709;709;709;709	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Q	709;709;709;230	ENSP00000264008:E709Q;ENSP00000300659:E709Q;ENSP00000331324:E709Q	ENSP00000331324:E709Q	E	+	1	0	NFATC3	66782198	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.230000	0.95299	2.617000	0.88574	0.557000	0.71058	GAG	NFATC3	-	NULL	ENSG00000072736		0.393	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	159	0.00	0	G	NM_004555		68224697	68224697	+1	no_errors	ENST00000346183	ensembl	human	known	69_37n	missense	103	46.63	90	SNP	1.000	C
NFATC3	4775	genome.wustl.edu	37	16	68224886	68224886	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr16:68224886G>A	ENST00000346183.3	+	9	2338	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	NFATC3_ENST00000349223.5_Missense_Mutation_p.E772K|NFATC3_ENST00000575270.1_Missense_Mutation_p.E772K|NFATC3_ENST00000329524.4_Missense_Mutation_p.E772K|NFATC3_ENST00000535127.2_3'UTR|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	772					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GTGTAGAGATGAGAGTGTTAG	0.458																																						dbGAP											0													188.0	162.0	171.0					16																	68224886		2198	4300	6498	-	-	-	SO:0001583	missense	0			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2314G>A	16.37:g.68224886G>A	ENSP00000300659:p.Glu772Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E772K	ENST00000346183.3	37	c.2314	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661936	0.47572	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.08008	3.14;3.14;3.14	5.79	4.75	0.60458	.	0.313264	0.33144	N	0.005233	T	0.05318	0.0141	L	0.29908	0.895	0.27328	N	0.95684	P;P;P;P	0.42692	0.627;0.787;0.627;0.627	B;B;B;B	0.40702	0.098;0.338;0.138;0.138	T	0.22730	-1.0208	10	0.07482	T	0.82	-8.2172	6.3072	0.21145	0.1486:0.2063:0.6451:0.0	.	772;772;772;772	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	K	772;772;772;293	ENSP00000264008:E772K;ENSP00000300659:E772K;ENSP00000331324:E772K	ENSP00000331324:E772K	E	+	1	0	NFATC3	66782387	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.994000	0.40757	2.732000	0.93576	0.557000	0.71058	GAG	NFATC3	-	NULL	ENSG00000072736		0.458	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	887	0.34	3	G	NM_004555		68224886	68224886	+1	no_errors	ENST00000346183	ensembl	human	known	69_37n	missense	146	40.41	99	SNP	0.974	A
NFATC3	4775	genome.wustl.edu	37	16	68224886	68224886	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr16:68224886G>A	ENST00000346183.3	+	9	2338	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	NFATC3_ENST00000349223.5_Missense_Mutation_p.E772K|NFATC3_ENST00000575270.1_Missense_Mutation_p.E772K|NFATC3_ENST00000329524.4_Missense_Mutation_p.E772K|NFATC3_ENST00000535127.2_3'UTR|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	772					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GTGTAGAGATGAGAGTGTTAG	0.458																																						dbGAP											0													188.0	162.0	171.0					16																	68224886		2198	4300	6498	-	-	-	SO:0001583	missense	0			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2314G>A	16.37:g.68224886G>A	ENSP00000300659:p.Glu772Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E772K	ENST00000346183.3	37	c.2314	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661936	0.47572	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.08008	3.14;3.14;3.14	5.79	4.75	0.60458	.	0.313264	0.33144	N	0.005233	T	0.05318	0.0141	L	0.29908	0.895	0.27328	N	0.95684	P;P;P;P	0.42692	0.627;0.787;0.627;0.627	B;B;B;B	0.40702	0.098;0.338;0.138;0.138	T	0.22730	-1.0208	10	0.07482	T	0.82	-8.2172	6.3072	0.21145	0.1486:0.2063:0.6451:0.0	.	772;772;772;772	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	K	772;772;772;293	ENSP00000264008:E772K;ENSP00000300659:E772K;ENSP00000331324:E772K	ENSP00000331324:E772K	E	+	1	0	NFATC3	66782387	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.994000	0.40757	2.732000	0.93576	0.557000	0.71058	GAG	NFATC3	-	NULL	ENSG00000072736		0.458	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	232	0.00	0	G	NM_004555		68224886	68224886	+1	no_errors	ENST00000346183	ensembl	human	known	69_37n	missense	146	40.41	99	SNP	0.974	A
NFYB	4801	genome.wustl.edu	37	12	104517031	104517031	+	Silent	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr12:104517031C>A	ENST00000240055.3	-	5	629	c.402G>T	c.(400-402)ctG>ctT	p.L134L	NFYB_ENST00000551727.1_Silent_p.L134L|RNA5SP370_ENST00000362545.1_RNA	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	134	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGTATAATTTCAGAGGTTCCA	0.353																																						dbGAP											0													84.0	82.0	82.0					12																	104517031		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.402G>T	12.37:g.104517031C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7B9|Q96IY8	Silent	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo	p.L134	ENST00000240055.3	37	c.402	CCDS9098.1	12																																																																																			NFYB	-	superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo	ENSG00000120837		0.353	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYB	HGNC	protein_coding	OTTHUMT00000407786.1	139	0.00	0	C			104517031	104517031	-1	no_errors	ENST00000240055	ensembl	human	known	69_37n	silent	72	34.55	38	SNP	1.000	A
NFYB	4801	genome.wustl.edu	37	12	104517031	104517031	+	Silent	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr12:104517031C>A	ENST00000240055.3	-	5	629	c.402G>T	c.(400-402)ctG>ctT	p.L134L	NFYB_ENST00000551727.1_Silent_p.L134L|RNA5SP370_ENST00000362545.1_RNA	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	134	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGTATAATTTCAGAGGTTCCA	0.353																																						dbGAP											0													84.0	82.0	82.0					12																	104517031		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.402G>T	12.37:g.104517031C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7B9|Q96IY8	Silent	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo	p.L134	ENST00000240055.3	37	c.402	CCDS9098.1	12																																																																																			NFYB	-	superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo	ENSG00000120837		0.353	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYB	HGNC	protein_coding	OTTHUMT00000407786.1	97	0.00	0	C			104517031	104517031	-1	no_errors	ENST00000240055	ensembl	human	known	69_37n	silent	72	34.55	38	SNP	1.000	A
NFYC	4802	genome.wustl.edu	37	1	41213269	41213269	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:41213269G>A	ENST00000308733.5	+	2	175	c.169G>A	c.(169-171)Gat>Aat	p.D57N	NFYC_ENST00000372653.1_Missense_Mutation_p.D57N|NFYC_ENST00000425457.2_Missense_Mutation_p.D57N|NFYC_ENST00000447388.3_Missense_Mutation_p.D57N|NFYC_ENST00000372651.1_Missense_Mutation_p.D57N|NFYC_ENST00000440226.3_Missense_Mutation_p.D57N|NFYC_ENST00000456393.2_Missense_Mutation_p.D57N|NFYC_ENST00000372652.1_Missense_Mutation_p.D57N|NFYC_ENST00000427410.2_Missense_Mutation_p.D57N|NFYC_ENST00000372654.1_Missense_Mutation_p.D57N			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	57					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ACTGGATGAAGATGTGAAGGT	0.363																																						dbGAP											0													85.0	79.0	81.0					1																	41213269		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.169G>A	1.37:g.41213269G>A	ENSP00000312617:p.Asp57Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	p.D57N	ENST00000308733.5	37	c.169		1	.	.	.	.	.	.	.	.	.	.	G	36	5.695020	0.96793	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000453631;ENST00000456393;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000531464;ENST00000440226;ENST00000525290;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50548	1.59;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	6.17	6.17	0.99709	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.996;0.999;0.997;0.998;0.996;0.996;0.999	D;D;D;D;D;D;D	0.85130	0.981;0.997;0.989;0.995;0.981;0.981;0.99	T	0.73113	-0.4085	10	0.66056	D	0.02	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	57;57;57;57;57;57;57	B4DW63;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;NFYC_HUMAN;.;.;.;.;.	N	57	ENSP00000408315:D57N;ENSP00000404427:D57N;ENSP00000396620:D57N;ENSP00000397647:D57N;ENSP00000408867:D57N;ENSP00000361738:D57N;ENSP00000361737:D57N;ENSP00000361754:D57N;ENSP00000361736:D57N;ENSP00000361734:D57N;ENSP00000434404:D57N;ENSP00000414299:D57N;ENSP00000436710:D57N;ENSP00000409219:D57N;ENSP00000312617:D57N	ENSP00000312617:D57N	D	+	1	0	NFYC	40985856	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.356000	0.97091	2.941000	0.99782	0.655000	0.94253	GAT	NFYC	-	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	ENSG00000066136		0.363	NFYC-007	KNOWN	basic	protein_coding	NFYC	HGNC	protein_coding	OTTHUMT00000020802.1	127	0.00	0	G	NM_014223		41213269	41213269	+1	no_errors	ENST00000308733	ensembl	human	known	69_37n	missense	44	38.89	28	SNP	1.000	A
NFYC	4802	genome.wustl.edu	37	1	41213269	41213269	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:41213269G>A	ENST00000308733.5	+	2	175	c.169G>A	c.(169-171)Gat>Aat	p.D57N	NFYC_ENST00000372653.1_Missense_Mutation_p.D57N|NFYC_ENST00000425457.2_Missense_Mutation_p.D57N|NFYC_ENST00000447388.3_Missense_Mutation_p.D57N|NFYC_ENST00000372651.1_Missense_Mutation_p.D57N|NFYC_ENST00000440226.3_Missense_Mutation_p.D57N|NFYC_ENST00000456393.2_Missense_Mutation_p.D57N|NFYC_ENST00000372652.1_Missense_Mutation_p.D57N|NFYC_ENST00000427410.2_Missense_Mutation_p.D57N|NFYC_ENST00000372654.1_Missense_Mutation_p.D57N			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	57					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ACTGGATGAAGATGTGAAGGT	0.363																																						dbGAP											0													85.0	79.0	81.0					1																	41213269		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.169G>A	1.37:g.41213269G>A	ENSP00000312617:p.Asp57Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	p.D57N	ENST00000308733.5	37	c.169		1	.	.	.	.	.	.	.	.	.	.	G	36	5.695020	0.96793	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000453631;ENST00000456393;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000531464;ENST00000440226;ENST00000525290;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50548	1.59;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	6.17	6.17	0.99709	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.996;0.999;0.997;0.998;0.996;0.996;0.999	D;D;D;D;D;D;D	0.85130	0.981;0.997;0.989;0.995;0.981;0.981;0.99	T	0.73113	-0.4085	10	0.66056	D	0.02	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	57;57;57;57;57;57;57	B4DW63;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;NFYC_HUMAN;.;.;.;.;.	N	57	ENSP00000408315:D57N;ENSP00000404427:D57N;ENSP00000396620:D57N;ENSP00000397647:D57N;ENSP00000408867:D57N;ENSP00000361738:D57N;ENSP00000361737:D57N;ENSP00000361754:D57N;ENSP00000361736:D57N;ENSP00000361734:D57N;ENSP00000434404:D57N;ENSP00000414299:D57N;ENSP00000436710:D57N;ENSP00000409219:D57N;ENSP00000312617:D57N	ENSP00000312617:D57N	D	+	1	0	NFYC	40985856	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.356000	0.97091	2.941000	0.99782	0.655000	0.94253	GAT	NFYC	-	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	ENSG00000066136		0.363	NFYC-007	KNOWN	basic	protein_coding	NFYC	HGNC	protein_coding	OTTHUMT00000020802.1	48	0.00	0	G	NM_014223		41213269	41213269	+1	no_errors	ENST00000308733	ensembl	human	known	69_37n	missense	44	38.89	28	SNP	1.000	A
NOTCH2	4853	genome.wustl.edu	37	1	120484367	120484367	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:120484367C>T	ENST00000256646.2	-	18	2982	c.2763G>A	c.(2761-2763)caG>caA	p.Q921Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	921	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCTCCATTCTGGCAAGGAT	0.428			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													51.0	49.0	50.0					1																	120484367		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2763G>A	1.37:g.120484367C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3X7|Q99734|Q9H240	Silent	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.Q921	ENST00000256646.2	37	c.2763	CCDS908.1	1																																																																																			NOTCH2	-	pirsf_Notch,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000134250		0.428	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	93	0.00	0	C	NM_024408		120484367	120484367	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	silent	72	28.00	28	SNP	1.000	T
NOTCH2	4853	genome.wustl.edu	37	1	120484367	120484367	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:120484367C>T	ENST00000256646.2	-	18	2982	c.2763G>A	c.(2761-2763)caG>caA	p.Q921Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	921	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCTCCATTCTGGCAAGGAT	0.428			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													51.0	49.0	50.0					1																	120484367		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2763G>A	1.37:g.120484367C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3X7|Q99734|Q9H240	Silent	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.Q921	ENST00000256646.2	37	c.2763	CCDS908.1	1																																																																																			NOTCH2	-	pirsf_Notch,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000134250		0.428	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	89	0.00	0	C	NM_024408		120484367	120484367	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	silent	72	28.00	28	SNP	1.000	T
NR1H4	9971	genome.wustl.edu	37	12	100928777	100928777	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr12:100928777G>C	ENST00000551379.1	+	4	766	c.738G>C	c.(736-738)gtG>gtC	p.V246V	NR1H4_ENST00000548884.1_Silent_p.V232V|NR1H4_ENST00000392986.3_Silent_p.V236V|NR1H4_ENST00000188403.7_Silent_p.V242V|NR1H4_ENST00000549996.1_Silent_p.V185V			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	246					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TGCGACAAGTGACCTCGACAA	0.463																																						dbGAP											0													131.0	109.0	116.0					12																	100928777		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.738G>C	12.37:g.100928777G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.V246	ENST00000551379.1	37	c.738	CCDS55876.1	12																																																																																			NR1H4	-	NULL	ENSG00000012504		0.463	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	HGNC	protein_coding	OTTHUMT00000409140.1	114	0.00	0	G	NM_005123		100928777	100928777	+1	no_errors	ENST00000551379	ensembl	human	known	69_37n	silent	62	24.39	20	SNP	1.000	C
NR1H4	9971	genome.wustl.edu	37	12	100928777	100928777	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr12:100928777G>C	ENST00000551379.1	+	4	766	c.738G>C	c.(736-738)gtG>gtC	p.V246V	NR1H4_ENST00000548884.1_Silent_p.V232V|NR1H4_ENST00000392986.3_Silent_p.V236V|NR1H4_ENST00000188403.7_Silent_p.V242V|NR1H4_ENST00000549996.1_Silent_p.V185V			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	246					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TGCGACAAGTGACCTCGACAA	0.463																																						dbGAP											0													131.0	109.0	116.0					12																	100928777		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.738G>C	12.37:g.100928777G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.V246	ENST00000551379.1	37	c.738	CCDS55876.1	12																																																																																			NR1H4	-	NULL	ENSG00000012504		0.463	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	HGNC	protein_coding	OTTHUMT00000409140.1	61	0.00	0	G	NM_005123		100928777	100928777	+1	no_errors	ENST00000551379	ensembl	human	known	69_37n	silent	62	24.39	20	SNP	1.000	C
NTRK3	4916	genome.wustl.edu	37	15	88472506	88472506	+	Missense_Mutation	SNP	C	C	G	rs267604362		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr15:88472506C>G	ENST00000360948.2	-	16	2210	c.2049G>C	c.(2047-2049)agG>agC	p.R683S	NTRK3_ENST00000357724.2_Missense_Mutation_p.R675S|NTRK3_ENST00000558676.1_Missense_Mutation_p.R675S|NTRK3_ENST00000542733.2_Missense_Mutation_p.R585S|NTRK3_ENST00000394480.2_Missense_Mutation_p.R683S|NTRK3_ENST00000355254.2_Missense_Mutation_p.R683S|NTRK3_ENST00000557856.1_Missense_Mutation_p.R675S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	683	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCAGGCAGTTCCTGGTGGCCA	0.552			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												dbGAP		Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0													94.0	87.0	89.0					15																	88472506		2201	4299	6500	-	-	-	SO:0001583	missense	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2049G>C	15.37:g.88472506C>G	ENSP00000354207:p.Arg683Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R683S	ENST00000360948.2	37	c.2049	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790218	0.70337	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26	5.16	4.18	0.49190	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92057	0.7483	M	0.66506	2.035	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.996;1.0	D;D;D;D;D	0.91635	0.998;0.994;0.999;0.99;0.999	D	0.92786	0.6244	10	0.87932	D	0	.	14.2429	0.65969	0.0:0.8503:0.1497:0.0	.	585;675;675;683;683	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	S	683;683;675;683;585	ENSP00000377990:R683S;ENSP00000354207:R683S;ENSP00000350356:R675S;ENSP00000347397:R683S;ENSP00000437773:R585S	ENSP00000347397:R683S	R	-	3	2	NTRK3	86273510	0.936000	0.31750	1.000000	0.80357	0.995000	0.86356	0.006000	0.13152	2.409000	0.81822	0.655000	0.94253	AGG	NTRK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000140538		0.552	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		267	0.00	0	C			88472506	88472506	-1	no_errors	ENST00000360948	ensembl	human	known	69_37n	missense	75	31.19	34	SNP	1.000	G
NTRK3	4916	genome.wustl.edu	37	15	88472506	88472506	+	Missense_Mutation	SNP	C	C	G	rs267604362		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr15:88472506C>G	ENST00000360948.2	-	16	2210	c.2049G>C	c.(2047-2049)agG>agC	p.R683S	NTRK3_ENST00000357724.2_Missense_Mutation_p.R675S|NTRK3_ENST00000558676.1_Missense_Mutation_p.R675S|NTRK3_ENST00000542733.2_Missense_Mutation_p.R585S|NTRK3_ENST00000394480.2_Missense_Mutation_p.R683S|NTRK3_ENST00000355254.2_Missense_Mutation_p.R683S|NTRK3_ENST00000557856.1_Missense_Mutation_p.R675S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	683	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCAGGCAGTTCCTGGTGGCCA	0.552			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												dbGAP		Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0													94.0	87.0	89.0					15																	88472506		2201	4299	6500	-	-	-	SO:0001583	missense	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2049G>C	15.37:g.88472506C>G	ENSP00000354207:p.Arg683Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R683S	ENST00000360948.2	37	c.2049	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790218	0.70337	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26	5.16	4.18	0.49190	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92057	0.7483	M	0.66506	2.035	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.996;1.0	D;D;D;D;D	0.91635	0.998;0.994;0.999;0.99;0.999	D	0.92786	0.6244	10	0.87932	D	0	.	14.2429	0.65969	0.0:0.8503:0.1497:0.0	.	585;675;675;683;683	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	S	683;683;675;683;585	ENSP00000377990:R683S;ENSP00000354207:R683S;ENSP00000350356:R675S;ENSP00000347397:R683S;ENSP00000437773:R585S	ENSP00000347397:R683S	R	-	3	2	NTRK3	86273510	0.936000	0.31750	1.000000	0.80357	0.995000	0.86356	0.006000	0.13152	2.409000	0.81822	0.655000	0.94253	AGG	NTRK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000140538		0.552	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		76	0.00	0	C			88472506	88472506	-1	no_errors	ENST00000360948	ensembl	human	known	69_37n	missense	75	31.19	34	SNP	1.000	G
NUDT13	25961	genome.wustl.edu	37	10	74874153	74874153	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr10:74874153G>C	ENST00000357321.4	+	2	148	c.30G>C	c.(28-30)agG>agC	p.R10S	NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.R10S|NUDT13_ENST00000349051.5_Missense_Mutation_p.R10S	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TAGCTTGCAGGAGAAAATTTT	0.333																																						dbGAP											0													109.0	106.0	107.0					10																	74874153		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.30G>C	10.37:g.74874153G>C	ENSP00000349874:p.Arg10Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,pfam_NADH_PPase-like_N,pfam_Znr_NADH_PPase,superfamily_NUDIX_hydrolase_dom-like	p.R10S	ENST00000357321.4	37	c.30	CCDS31220.1	10	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292709	0.40594	.	.	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000372997	T;T;T	0.32023	1.95;1.52;1.47	5.28	1.38	0.22167	.	0.333784	0.29653	N	0.011553	T	0.17874	0.0429	N	0.24115	0.695	0.58432	D	0.999994	B;B;B	0.28636	0.218;0.139;0.002	B;B;B	0.25140	0.058;0.027;0.004	T	0.05289	-1.0894	10	0.52906	T	0.07	-11.1964	7.9676	0.30109	0.3179:0.0:0.6821:0.0	.	10;10;10	Q86X67-2;Q5SQM6;Q86X67	.;.;NUD13_HUMAN	S	10	ENSP00000349874:R10S;ENSP00000335326:R10S;ENSP00000362088:R10S	ENSP00000335326:R10S	R	+	3	2	NUDT13	74544159	0.973000	0.33851	0.840000	0.33206	0.830000	0.47004	0.151000	0.16283	0.058000	0.16222	0.655000	0.94253	AGG	NUDT13	-	NULL	ENSG00000166321		0.333	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT13	HGNC	protein_coding	OTTHUMT00000048614.1	44	0.00	0	G	NM_015901		74874153	74874153	+1	no_errors	ENST00000357321	ensembl	human	known	69_37n	missense	42	28.81	17	SNP	0.823	C
NUDT13	25961	genome.wustl.edu	37	10	74874153	74874153	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr10:74874153G>C	ENST00000357321.4	+	2	148	c.30G>C	c.(28-30)agG>agC	p.R10S	NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.R10S|NUDT13_ENST00000349051.5_Missense_Mutation_p.R10S	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TAGCTTGCAGGAGAAAATTTT	0.333																																						dbGAP											0													109.0	106.0	107.0					10																	74874153		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.30G>C	10.37:g.74874153G>C	ENSP00000349874:p.Arg10Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,pfam_NADH_PPase-like_N,pfam_Znr_NADH_PPase,superfamily_NUDIX_hydrolase_dom-like	p.R10S	ENST00000357321.4	37	c.30	CCDS31220.1	10	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292709	0.40594	.	.	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000372997	T;T;T	0.32023	1.95;1.52;1.47	5.28	1.38	0.22167	.	0.333784	0.29653	N	0.011553	T	0.17874	0.0429	N	0.24115	0.695	0.58432	D	0.999994	B;B;B	0.28636	0.218;0.139;0.002	B;B;B	0.25140	0.058;0.027;0.004	T	0.05289	-1.0894	10	0.52906	T	0.07	-11.1964	7.9676	0.30109	0.3179:0.0:0.6821:0.0	.	10;10;10	Q86X67-2;Q5SQM6;Q86X67	.;.;NUD13_HUMAN	S	10	ENSP00000349874:R10S;ENSP00000335326:R10S;ENSP00000362088:R10S	ENSP00000335326:R10S	R	+	3	2	NUDT13	74544159	0.973000	0.33851	0.840000	0.33206	0.830000	0.47004	0.151000	0.16283	0.058000	0.16222	0.655000	0.94253	AGG	NUDT13	-	NULL	ENSG00000166321		0.333	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT13	HGNC	protein_coding	OTTHUMT00000048614.1	30	0.00	0	G	NM_015901		74874153	74874153	+1	no_errors	ENST00000357321	ensembl	human	known	69_37n	missense	42	28.81	17	SNP	0.823	C
NUP153	9972	genome.wustl.edu	37	6	17637546	17637546	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:17637546C>G	ENST00000262077.2	-	16	2301	c.2302G>C	c.(2302-2304)Gag>Cag	p.E768Q	NUP153_ENST00000537253.1_Missense_Mutation_p.E799Q	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	768					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTCATAGTCTCAGCACTTTCC	0.438																																						dbGAP											0													142.0	135.0	137.0					6																	17637546		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2302G>C	6.37:g.17637546C>G	ENSP00000262077:p.Glu768Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.E799Q	ENST00000262077.2	37	c.2395	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	C	5.987	0.366043	0.11352	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.06687	3.27;3.27	5.81	4.04	0.47022	.	0.292704	0.24185	N	0.040762	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B;B;B	0.34372	0.451;0.215;0.021	B;B;B	0.31016	0.123;0.079;0.021	T	0.46133	-0.9213	10	0.13853	T	0.58	0.0012	9.1719	0.37086	0.0:0.7256:0.0:0.2744	.	799;748;768	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	Q	768;748;799	ENSP00000262077:E768Q;ENSP00000444029:E799Q	ENSP00000262077:E768Q	E	-	1	0	NUP153	17745525	0.001000	0.12720	0.029000	0.17559	0.971000	0.66376	1.117000	0.31234	0.916000	0.36871	0.655000	0.94253	GAG	NUP153	-	NULL	ENSG00000124789		0.438	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	395	0.00	0	C			17637546	17637546	-1	no_errors	ENST00000537253	ensembl	human	known	69_37n	missense	420	13.04	63	SNP	0.002	G
NUP153	9972	genome.wustl.edu	37	6	17637546	17637546	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:17637546C>G	ENST00000262077.2	-	16	2301	c.2302G>C	c.(2302-2304)Gag>Cag	p.E768Q	NUP153_ENST00000537253.1_Missense_Mutation_p.E799Q	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	768					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTCATAGTCTCAGCACTTTCC	0.438																																						dbGAP											0													142.0	135.0	137.0					6																	17637546		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2302G>C	6.37:g.17637546C>G	ENSP00000262077:p.Glu768Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.E799Q	ENST00000262077.2	37	c.2395	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	C	5.987	0.366043	0.11352	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.06687	3.27;3.27	5.81	4.04	0.47022	.	0.292704	0.24185	N	0.040762	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B;B;B	0.34372	0.451;0.215;0.021	B;B;B	0.31016	0.123;0.079;0.021	T	0.46133	-0.9213	10	0.13853	T	0.58	0.0012	9.1719	0.37086	0.0:0.7256:0.0:0.2744	.	799;748;768	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	Q	768;748;799	ENSP00000262077:E768Q;ENSP00000444029:E799Q	ENSP00000262077:E768Q	E	-	1	0	NUP153	17745525	0.001000	0.12720	0.029000	0.17559	0.971000	0.66376	1.117000	0.31234	0.916000	0.36871	0.655000	0.94253	GAG	NUP153	-	NULL	ENSG00000124789		0.438	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	360	0.00	0	C			17637546	17637546	-1	no_errors	ENST00000537253	ensembl	human	known	69_37n	missense	420	13.04	63	SNP	0.002	G
OLFML2B	25903	genome.wustl.edu	37	1	161970068	161970068	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:161970068G>A	ENST00000294794.3	-	5	1207	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	OLFML2B_ENST00000367940.2_Silent_p.L263L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	262					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGCGTCTGCAGAAGTTCGATG	0.617																																						dbGAP											0													62.0	57.0	58.0					1																	161970068		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.784C>T	1.37:g.161970068G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like	p.L262	ENST00000294794.3	37	c.784	CCDS1236.1	1																																																																																			OLFML2B	-	NULL	ENSG00000162745		0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	186	0.00	0	G	NM_015441		161970068	161970068	-1	no_errors	ENST00000294794	ensembl	human	known	69_37n	silent	122	28.65	49	SNP	0.981	A
OLFML2B	25903	genome.wustl.edu	37	1	161970068	161970068	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:161970068G>A	ENST00000294794.3	-	5	1207	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	OLFML2B_ENST00000367940.2_Silent_p.L263L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	262					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGCGTCTGCAGAAGTTCGATG	0.617																																						dbGAP											0													62.0	57.0	58.0					1																	161970068		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.784C>T	1.37:g.161970068G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like	p.L262	ENST00000294794.3	37	c.784	CCDS1236.1	1																																																																																			OLFML2B	-	NULL	ENSG00000162745		0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	68	0.00	0	G	NM_015441		161970068	161970068	-1	no_errors	ENST00000294794	ensembl	human	known	69_37n	silent	122	28.65	49	SNP	0.981	A
OR14I1	401994	genome.wustl.edu	37	1	248845114	248845114	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:248845114C>T	ENST00000342623.3	-	1	515	c.492G>A	c.(490-492)gaG>gaA	p.E164E		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGCAAACGTGCTCCCGAAACA	0.527																																						dbGAP											0													97.0	90.0	92.0					1																	248845114		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.492G>A	1.37:g.248845114C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt	p.E164	ENST00000342623.3	37	c.492	CCDS31125.1	1																																																																																			OR14I1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000189181		0.527	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14I1	HGNC	protein_coding	OTTHUMT00000097128.1	118	0.00	0	C	NM_001004734		248845114	248845114	-1	no_errors	ENST00000342623	ensembl	human	known	69_37n	silent	78	27.78	30	SNP	0.000	T
OR14I1	401994	genome.wustl.edu	37	1	248845114	248845114	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:248845114C>T	ENST00000342623.3	-	1	515	c.492G>A	c.(490-492)gaG>gaA	p.E164E		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGCAAACGTGCTCCCGAAACA	0.527																																						dbGAP											0													97.0	90.0	92.0					1																	248845114		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.492G>A	1.37:g.248845114C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt	p.E164	ENST00000342623.3	37	c.492	CCDS31125.1	1																																																																																			OR14I1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000189181		0.527	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14I1	HGNC	protein_coding	OTTHUMT00000097128.1	110	0.00	0	C	NM_001004734		248845114	248845114	-1	no_errors	ENST00000342623	ensembl	human	known	69_37n	silent	78	27.78	30	SNP	0.000	T
OR56A1	120796	genome.wustl.edu	37	11	6048366	6048366	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr11:6048366G>C	ENST00000316650.5	-	1	605	c.569C>G	c.(568-570)tCt>tGt	p.S190C		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGACACAGACAAGTTGGC	0.478																																						dbGAP											0													85.0	83.0	84.0					11																	6048366		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.569C>G	11.37:g.6048366G>C	ENSP00000321246:p.Ser190Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNI2|Q6IFL0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S190C	ENST00000316650.5	37	c.569	CCDS31405.1	11	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353698	0.24512	.	.	ENSG00000180934	ENST00000316650	T	0.00152	8.66	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	D	0.000762	T	0.00412	0.0013	M	0.82056	2.57	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.40098	-0.9581	10	0.87932	D	0	.	8.091	0.30801	0.1096:0.0:0.8904:0.0	.	190	Q8NGH5	O56A1_HUMAN	C	190	ENSP00000321246:S190C	ENSP00000321246:S190C	S	-	2	0	OR56A1	6004942	0.000000	0.05858	1.000000	0.80357	0.288000	0.27193	0.344000	0.19962	2.325000	0.78763	0.655000	0.94253	TCT	OR56A1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000180934		0.478	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	378	0.00	0	G	NM_001001917		6048366	6048366	-1	no_errors	ENST00000316650	ensembl	human	known	69_37n	missense	187	44.01	147	SNP	0.128	C
OR56A1	120796	genome.wustl.edu	37	11	6048366	6048366	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr11:6048366G>C	ENST00000316650.5	-	1	605	c.569C>G	c.(568-570)tCt>tGt	p.S190C		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGACACAGACAAGTTGGC	0.478																																						dbGAP											0													85.0	83.0	84.0					11																	6048366		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.569C>G	11.37:g.6048366G>C	ENSP00000321246:p.Ser190Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNI2|Q6IFL0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S190C	ENST00000316650.5	37	c.569	CCDS31405.1	11	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353698	0.24512	.	.	ENSG00000180934	ENST00000316650	T	0.00152	8.66	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	D	0.000762	T	0.00412	0.0013	M	0.82056	2.57	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.40098	-0.9581	10	0.87932	D	0	.	8.091	0.30801	0.1096:0.0:0.8904:0.0	.	190	Q8NGH5	O56A1_HUMAN	C	190	ENSP00000321246:S190C	ENSP00000321246:S190C	S	-	2	0	OR56A1	6004942	0.000000	0.05858	1.000000	0.80357	0.288000	0.27193	0.344000	0.19962	2.325000	0.78763	0.655000	0.94253	TCT	OR56A1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000180934		0.478	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	253	0.00	0	G	NM_001001917		6048366	6048366	-1	no_errors	ENST00000316650	ensembl	human	known	69_37n	missense	187	44.01	147	SNP	0.128	C
OR8D1	283159	genome.wustl.edu	37	11	124180243	124180243	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr11:124180243G>C	ENST00000357821.2	-	1	490	c.420C>G	c.(418-420)gtC>gtG	p.V140V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCAGTGAGCAGACCCATGAGG	0.488																																						dbGAP											0													77.0	68.0	71.0					11																	124180243		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.420C>G	11.37:g.124180243G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V140	ENST00000357821.2	37	c.420	CCDS31706.1	11																																																																																			OR8D1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000196341		0.488	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	201	0.00	0	G	NM_001002917		124180243	124180243	-1	no_errors	ENST00000357821	ensembl	human	known	69_37n	silent	106	34.57	56	SNP	0.003	C
OR8D1	283159	genome.wustl.edu	37	11	124180243	124180243	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr11:124180243G>C	ENST00000357821.2	-	1	490	c.420C>G	c.(418-420)gtC>gtG	p.V140V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCAGTGAGCAGACCCATGAGG	0.488																																						dbGAP											0													77.0	68.0	71.0					11																	124180243		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.420C>G	11.37:g.124180243G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V140	ENST00000357821.2	37	c.420	CCDS31706.1	11																																																																																			OR8D1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000196341		0.488	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	141	0.00	0	G	NM_001002917		124180243	124180243	-1	no_errors	ENST00000357821	ensembl	human	known	69_37n	silent	106	34.57	56	SNP	0.003	C
OXGR1	27199	genome.wustl.edu	37	13	97639086	97639086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr13:97639086G>A	ENST00000298440.1	-	4	1171	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	OXGR1_ENST00000543457.1_Nonsense_Mutation_p.Q310*	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	310					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			ACAGCCTGCTGAAAGTTGTCG	0.413																																						dbGAP											0													120.0	115.0	116.0					13																	97639086		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.928C>T	13.37:g.97639086G>A	ENSP00000298440:p.Gln310*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5A7|Q86TL1	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.Q310*	ENST00000298440.1	37	c.928	CCDS9482.1	13	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230692	0.79688	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	.	.	.	5.87	5.02	0.67125	.	0.121135	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.9522	0.47336	0.139:0.0:0.861:0.0	.	.	.	.	X	310	.	ENSP00000298440:Q310X	Q	-	1	0	OXGR1	96437087	1.000000	0.71417	0.998000	0.56505	0.251000	0.25915	3.240000	0.51368	2.941000	0.99782	0.655000	0.94253	CAG	OXGR1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000165621		0.413	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXGR1	HGNC	protein_coding	OTTHUMT00000045521.3	225	0.44	1	G	NM_080818		97639086	97639086	-1	no_errors	ENST00000298440	ensembl	human	known	69_37n	nonsense	176	30.71	78	SNP	1.000	A
OXGR1	27199	genome.wustl.edu	37	13	97639086	97639086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr13:97639086G>A	ENST00000298440.1	-	4	1171	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	OXGR1_ENST00000543457.1_Nonsense_Mutation_p.Q310*	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	310					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			ACAGCCTGCTGAAAGTTGTCG	0.413																																						dbGAP											0													120.0	115.0	116.0					13																	97639086		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.928C>T	13.37:g.97639086G>A	ENSP00000298440:p.Gln310*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5A7|Q86TL1	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.Q310*	ENST00000298440.1	37	c.928	CCDS9482.1	13	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230692	0.79688	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	.	.	.	5.87	5.02	0.67125	.	0.121135	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.9522	0.47336	0.139:0.0:0.861:0.0	.	.	.	.	X	310	.	ENSP00000298440:Q310X	Q	-	1	0	OXGR1	96437087	1.000000	0.71417	0.998000	0.56505	0.251000	0.25915	3.240000	0.51368	2.941000	0.99782	0.655000	0.94253	CAG	OXGR1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000165621		0.413	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXGR1	HGNC	protein_coding	OTTHUMT00000045521.3	262	0.00	0	G	NM_080818		97639086	97639086	-1	no_errors	ENST00000298440	ensembl	human	known	69_37n	nonsense	176	30.71	78	SNP	1.000	A
PAICS	10606	genome.wustl.edu	37	4	57314891	57314891	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:57314891G>C	ENST00000512576.1	+	5	750	c.589G>C	c.(589-591)Gat>Cat	p.D197H	PAICS_ENST00000514888.1_Missense_Mutation_p.D105H|PAICS_ENST00000399688.3_Missense_Mutation_p.D204H|PAICS_ENST00000264221.2_Missense_Mutation_p.D197H	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	197	SAICAR synthetase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	ATTTGGTGTTGATGTAACCAC	0.368																																					GBM(53;429 1144 8755 40726)	dbGAP											0													61.0	56.0	57.0					4																	57314891		1883	4113	5996	-	-	-	SO:0001583	missense	0			X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.589G>C	4.37:g.57314891G>C	ENSP00000421096:p.Asp197His	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDH9|Q68CQ5	Missense_Mutation	SNP	pfam_SAICAR_synth,pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom	p.D197H	ENST00000512576.1	37	c.589	CCDS47061.1	4	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249688	0.59212	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.53	3.79	0.43588	ATP-grasp fold, subdomain 2 (1);	0.239391	0.49916	D	0.000121	T	0.57621	0.2066	L	0.56124	1.755	0.37596	D	0.920373	D;D;D	0.58268	0.982;0.978;0.982	D;P;D	0.64877	0.93;0.885;0.93	T	0.64283	-0.6444	10	0.87932	D	0	-24.3375	8.1171	0.30950	0.2649:0.0:0.7351:0.0	.	197;204;197	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	H	105;197;197;204;197	ENSP00000424907:D105H;ENSP00000264221:D197H;ENSP00000424053:D197H;ENSP00000382595:D204H;ENSP00000421096:D197H	ENSP00000264221:D197H	D	+	1	0	PAICS	57009648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.573000	0.53856	1.483000	0.48342	0.655000	0.94253	GAT	PAICS	-	pfam_SAICAR_synth	ENSG00000128050		0.368	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAICS	HGNC	protein_coding	OTTHUMT00000363136.2	62	0.00	0	G	NM_006452		57314891	57314891	+1	no_errors	ENST00000264221	ensembl	human	known	69_37n	missense	43	25.42	15	SNP	1.000	C
PAICS	10606	genome.wustl.edu	37	4	57314891	57314891	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:57314891G>C	ENST00000512576.1	+	5	750	c.589G>C	c.(589-591)Gat>Cat	p.D197H	PAICS_ENST00000514888.1_Missense_Mutation_p.D105H|PAICS_ENST00000399688.3_Missense_Mutation_p.D204H|PAICS_ENST00000264221.2_Missense_Mutation_p.D197H	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	197	SAICAR synthetase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	ATTTGGTGTTGATGTAACCAC	0.368																																					GBM(53;429 1144 8755 40726)	dbGAP											0													61.0	56.0	57.0					4																	57314891		1883	4113	5996	-	-	-	SO:0001583	missense	0			X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.589G>C	4.37:g.57314891G>C	ENSP00000421096:p.Asp197His	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDH9|Q68CQ5	Missense_Mutation	SNP	pfam_SAICAR_synth,pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom	p.D197H	ENST00000512576.1	37	c.589	CCDS47061.1	4	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249688	0.59212	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.53	3.79	0.43588	ATP-grasp fold, subdomain 2 (1);	0.239391	0.49916	D	0.000121	T	0.57621	0.2066	L	0.56124	1.755	0.37596	D	0.920373	D;D;D	0.58268	0.982;0.978;0.982	D;P;D	0.64877	0.93;0.885;0.93	T	0.64283	-0.6444	10	0.87932	D	0	-24.3375	8.1171	0.30950	0.2649:0.0:0.7351:0.0	.	197;204;197	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	H	105;197;197;204;197	ENSP00000424907:D105H;ENSP00000264221:D197H;ENSP00000424053:D197H;ENSP00000382595:D204H;ENSP00000421096:D197H	ENSP00000264221:D197H	D	+	1	0	PAICS	57009648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.573000	0.53856	1.483000	0.48342	0.655000	0.94253	GAT	PAICS	-	pfam_SAICAR_synth	ENSG00000128050		0.368	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAICS	HGNC	protein_coding	OTTHUMT00000363136.2	35	0.00	0	G	NM_006452		57314891	57314891	+1	no_errors	ENST00000264221	ensembl	human	known	69_37n	missense	43	25.42	15	SNP	1.000	C
PCSK5	5125	genome.wustl.edu	37	9	78804645	78804645	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr9:78804645G>C	ENST00000545128.1	+	20	3147	c.2609G>C	c.(2608-2610)gGa>gCa	p.G870A	PCSK5_ENST00000376752.4_Missense_Mutation_p.G870A	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	870	CRM (Cys-rich motif).|PLAC.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.G870E(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGTCAAATGGGAGCCATTTGC	0.398																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											124.0	115.0	118.0					9																	78804645		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2609G>C	9.37:g.78804645G>C	ENSP00000446280:p.Gly870Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel	p.G870A	ENST00000545128.1	37	c.2609	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586645	0.86851	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376752;ENST00000424854;ENST00000455778	T;T;T;T	0.28454	1.63;1.61;1.63;2.85	5.88	5.88	0.94601	PLAC (1);	0.142663	0.64402	D	0.000004	T	0.46444	0.1393	M	0.68317	2.08	0.54753	D	0.999988	P;B	0.51057	0.941;0.013	P;B	0.50537	0.643;0.02	T	0.24119	-1.0169	10	0.40728	T	0.16	-16.7852	19.8332	0.96644	0.0:0.0:1.0:0.0	.	870;870	Q92824;Q92824-2	PCSK5_HUMAN;.	A	870;573;870;543;89	ENSP00000446280:G870A;ENSP00000365943:G870A;ENSP00000411654:G543A;ENSP00000407239:G89A	ENSP00000365943:G870A	G	+	2	0	PCSK5	77994465	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.622000	0.90953	2.789000	0.95967	0.655000	0.94253	GGA	PCSK5	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat	ENSG00000099139		0.398	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		146	0.00	0	G			78804645	78804645	+1	no_errors	ENST00000545128	ensembl	human	known	69_37n	missense	87	25.64	30	SNP	1.000	C
PCSK5	5125	genome.wustl.edu	37	9	78804645	78804645	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr9:78804645G>C	ENST00000545128.1	+	20	3147	c.2609G>C	c.(2608-2610)gGa>gCa	p.G870A	PCSK5_ENST00000376752.4_Missense_Mutation_p.G870A	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	870	CRM (Cys-rich motif).|PLAC.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.G870E(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGTCAAATGGGAGCCATTTGC	0.398																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											124.0	115.0	118.0					9																	78804645		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2609G>C	9.37:g.78804645G>C	ENSP00000446280:p.Gly870Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel	p.G870A	ENST00000545128.1	37	c.2609	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586645	0.86851	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376752;ENST00000424854;ENST00000455778	T;T;T;T	0.28454	1.63;1.61;1.63;2.85	5.88	5.88	0.94601	PLAC (1);	0.142663	0.64402	D	0.000004	T	0.46444	0.1393	M	0.68317	2.08	0.54753	D	0.999988	P;B	0.51057	0.941;0.013	P;B	0.50537	0.643;0.02	T	0.24119	-1.0169	10	0.40728	T	0.16	-16.7852	19.8332	0.96644	0.0:0.0:1.0:0.0	.	870;870	Q92824;Q92824-2	PCSK5_HUMAN;.	A	870;573;870;543;89	ENSP00000446280:G870A;ENSP00000365943:G870A;ENSP00000411654:G543A;ENSP00000407239:G89A	ENSP00000365943:G870A	G	+	2	0	PCSK5	77994465	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.622000	0.90953	2.789000	0.95967	0.655000	0.94253	GGA	PCSK5	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat	ENSG00000099139		0.398	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		84	0.00	0	G			78804645	78804645	+1	no_errors	ENST00000545128	ensembl	human	known	69_37n	missense	87	25.64	30	SNP	1.000	C
PCYT1B	9468	genome.wustl.edu	37	X	24580566	24580566	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:24580566C>G	ENST00000379144.2	-	8	1084	c.954G>C	c.(952-954)caG>caC	p.Q318H	PCYT1B_ENST00000356768.4_Missense_Mutation_p.Q318H|PCYT1B_ENST00000379145.1_Missense_Mutation_p.Q300H	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	318					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TCACAGGGCTCTGCTTCGGGG	0.567																																						dbGAP											0													45.0	40.0	42.0					X																	24580566		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.954G>C	X.37:g.24580566C>G	ENSP00000368439:p.Gln318His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel	p.Q318H	ENST00000379144.2	37	c.954	CCDS14213.1	X	.	.	.	.	.	.	.	.	.	.	C	8.677	0.904201	0.17760	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	.	.	.	5.67	3.9	0.45041	.	0.286651	0.36234	N	0.002707	T	0.38878	0.1057	L	0.27053	0.805	0.38608	D	0.950838	B;P;P	0.39964	0.341;0.697;0.697	B;B;B	0.40101	0.319;0.205;0.276	T	0.36335	-0.9752	9	0.45353	T	0.12	-18.6561	9.032	0.36264	0.0:0.7632:0.0:0.2368	.	318;300;318	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	H	300;318;318	.	ENSP00000349211:Q318H	Q	-	3	2	PCYT1B	24490487	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.206000	0.32321	1.161000	0.42604	-0.269000	0.10298	CAG	PCYT1B	-	NULL	ENSG00000102230		0.567	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1B	HGNC	protein_coding	OTTHUMT00000056103.1	61	0.00	0	C	NM_004845		24580566	24580566	-1	no_errors	ENST00000379144	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	G
PCYT1B	9468	genome.wustl.edu	37	X	24580566	24580566	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:24580566C>G	ENST00000379144.2	-	8	1084	c.954G>C	c.(952-954)caG>caC	p.Q318H	PCYT1B_ENST00000356768.4_Missense_Mutation_p.Q318H|PCYT1B_ENST00000379145.1_Missense_Mutation_p.Q300H	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	318					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TCACAGGGCTCTGCTTCGGGG	0.567																																						dbGAP											0													45.0	40.0	42.0					X																	24580566		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.954G>C	X.37:g.24580566C>G	ENSP00000368439:p.Gln318His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel	p.Q318H	ENST00000379144.2	37	c.954	CCDS14213.1	X	.	.	.	.	.	.	.	.	.	.	C	8.677	0.904201	0.17760	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	.	.	.	5.67	3.9	0.45041	.	0.286651	0.36234	N	0.002707	T	0.38878	0.1057	L	0.27053	0.805	0.38608	D	0.950838	B;P;P	0.39964	0.341;0.697;0.697	B;B;B	0.40101	0.319;0.205;0.276	T	0.36335	-0.9752	9	0.45353	T	0.12	-18.6561	9.032	0.36264	0.0:0.7632:0.0:0.2368	.	318;300;318	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	H	300;318;318	.	ENSP00000349211:Q318H	Q	-	3	2	PCYT1B	24490487	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.206000	0.32321	1.161000	0.42604	-0.269000	0.10298	CAG	PCYT1B	-	NULL	ENSG00000102230		0.567	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1B	HGNC	protein_coding	OTTHUMT00000056103.1	26	0.00	0	C	NM_004845		24580566	24580566	-1	no_errors	ENST00000379144	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	G
PDE9A	5152	genome.wustl.edu	37	21	44153465	44153465	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr21:44153465G>A	ENST00000291539.6	+	7	557		c.e7-1		PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000398229.3_Splice_Site|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000398224.3_Splice_Site|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000335440.6_Splice_Site|PDE9A_ENST00000470987.1_Splice_Site|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000398232.3_Splice_Site|PDE9A_ENST00000380328.2_Splice_Site|PDE9A_ENST00000398227.3_Splice_Site|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000398236.3_Splice_Site|PDE9A_ENST00000539837.1_Splice_Site|PDE9A_ENST00000349112.3_Splice_Site	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TTCATTCCTAGAGCATTCAAA	0.418																																						dbGAP											0													105.0	97.0	100.0					21																	44153465		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.498-1G>A	21.37:g.44153465G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Splice_Site	SNP	-	e7-1	ENST00000291539.6	37	c.498-1	CCDS13690.1	21	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894945	0.52121	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3971	0.87449	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE9A	43026534	1.000000	0.71417	0.715000	0.30552	0.646000	0.38490	5.847000	0.69451	2.627000	0.88993	0.591000	0.81541	.	PDE9A	-	-	ENSG00000160191		0.418	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	98	0.00	0	G		Intron	44153465	44153465	+1	no_errors	ENST00000291539	ensembl	human	known	69_37n	splice_site	56	32.53	27	SNP	1.000	A
PDE9A	5152	genome.wustl.edu	37	21	44153465	44153465	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr21:44153465G>A	ENST00000291539.6	+	7	557		c.e7-1		PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000398229.3_Splice_Site|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000398224.3_Splice_Site|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000335440.6_Splice_Site|PDE9A_ENST00000470987.1_Splice_Site|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000398232.3_Splice_Site|PDE9A_ENST00000380328.2_Splice_Site|PDE9A_ENST00000398227.3_Splice_Site|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000398236.3_Splice_Site|PDE9A_ENST00000539837.1_Splice_Site|PDE9A_ENST00000349112.3_Splice_Site	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TTCATTCCTAGAGCATTCAAA	0.418																																						dbGAP											0													105.0	97.0	100.0					21																	44153465		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.498-1G>A	21.37:g.44153465G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Splice_Site	SNP	-	e7-1	ENST00000291539.6	37	c.498-1	CCDS13690.1	21	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894945	0.52121	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3971	0.87449	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE9A	43026534	1.000000	0.71417	0.715000	0.30552	0.646000	0.38490	5.847000	0.69451	2.627000	0.88993	0.591000	0.81541	.	PDE9A	-	-	ENSG00000160191		0.418	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	35	0.00	0	G		Intron	44153465	44153465	+1	no_errors	ENST00000291539	ensembl	human	known	69_37n	splice_site	56	32.53	27	SNP	1.000	A
PDRG1	81572	genome.wustl.edu	37	20	30534327	30534327	+	Silent	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr20:30534327C>A	ENST00000202017.4	-	4	421	c.291G>T	c.(289-291)gtG>gtT	p.V97V		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	97					protein folding (GO:0006457)	cytoplasm (GO:0005737)|prefoldin complex (GO:0016272)				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGTTGACCTTCACTTTAAGTT	0.458																																						dbGAP											0													162.0	148.0	153.0					20																	30534327		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL031658	CCDS13194.1	20q11.21	2009-06-12	2009-06-12	2004-10-07	ENSG00000088356	ENSG00000088356			16119	protein-coding gene	gene with protein product		610789	"""chromosome 20 open reading frame 126"""	C20orf126		14562055	Standard	NM_030815		Approved	dJ310O13.3	uc002wxd.3	Q9NUG6	OTTHUMG00000032196	ENST00000202017.4:c.291G>T	20.37:g.30534327C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R511|Q96GP3|Q9BUW8	Silent	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.V97	ENST00000202017.4	37	c.291	CCDS13194.1	20																																																																																			PDRG1	-	pfam_PFD_beta-like,superfamily_Prefoldin	ENSG00000088356		0.458	PDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDRG1	HGNC	protein_coding	OTTHUMT00000078593.2	308	0.00	0	C	NM_030815		30534327	30534327	-1	no_errors	ENST00000202017	ensembl	human	known	69_37n	silent	81	24.30	26	SNP	1.000	A
PDRG1	81572	genome.wustl.edu	37	20	30534327	30534327	+	Silent	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr20:30534327C>A	ENST00000202017.4	-	4	421	c.291G>T	c.(289-291)gtG>gtT	p.V97V		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	97					protein folding (GO:0006457)	cytoplasm (GO:0005737)|prefoldin complex (GO:0016272)				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGTTGACCTTCACTTTAAGTT	0.458																																						dbGAP											0													162.0	148.0	153.0					20																	30534327		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL031658	CCDS13194.1	20q11.21	2009-06-12	2009-06-12	2004-10-07	ENSG00000088356	ENSG00000088356			16119	protein-coding gene	gene with protein product		610789	"""chromosome 20 open reading frame 126"""	C20orf126		14562055	Standard	NM_030815		Approved	dJ310O13.3	uc002wxd.3	Q9NUG6	OTTHUMG00000032196	ENST00000202017.4:c.291G>T	20.37:g.30534327C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R511|Q96GP3|Q9BUW8	Silent	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.V97	ENST00000202017.4	37	c.291	CCDS13194.1	20																																																																																			PDRG1	-	pfam_PFD_beta-like,superfamily_Prefoldin	ENSG00000088356		0.458	PDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDRG1	HGNC	protein_coding	OTTHUMT00000078593.2	94	0.00	0	C	NM_030815		30534327	30534327	-1	no_errors	ENST00000202017	ensembl	human	known	69_37n	silent	81	24.30	26	SNP	1.000	A
PDS5B	23047	genome.wustl.edu	37	13	33252979	33252979	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr13:33252979G>A	ENST00000315596.10	+	10	1156	c.970G>A	c.(970-972)Gat>Aat	p.D324N		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	324					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAGGTTTAATGATATCCATGT	0.323																																						dbGAP											0													103.0	91.0	95.0					13																	33252979		1831	4089	5920	-	-	-	SO:0001583	missense	0			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.970G>A	13.37:g.33252979G>A	ENSP00000313851:p.Asp324Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D324N	ENST00000315596.10	37	c.970	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.519463	0.96416	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.71461	-0.57	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85548	0.5722	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.80764	0.994;0.904	D	0.87083	0.2167	10	0.87932	D	0	-25.2948	19.3744	0.94502	0.0:0.0:1.0:0.0	.	324;324	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	N	324	ENSP00000313851:D324N	ENSP00000313851:D324N	D	+	1	0	PDS5B	32150979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.756000	0.98918	2.585000	0.87301	0.561000	0.74099	GAT	PDS5B	-	superfamily_ARM-type_fold	ENSG00000083642		0.323	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	133	0.00	0	G	NM_015032		33252979	33252979	+1	no_errors	ENST00000315596	ensembl	human	known	69_37n	missense	159	31.47	73	SNP	1.000	A
PDS5B	23047	genome.wustl.edu	37	13	33252979	33252979	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr13:33252979G>A	ENST00000315596.10	+	10	1156	c.970G>A	c.(970-972)Gat>Aat	p.D324N		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	324					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAGGTTTAATGATATCCATGT	0.323																																						dbGAP											0													103.0	91.0	95.0					13																	33252979		1831	4089	5920	-	-	-	SO:0001583	missense	0			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.970G>A	13.37:g.33252979G>A	ENSP00000313851:p.Asp324Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D324N	ENST00000315596.10	37	c.970	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.519463	0.96416	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.71461	-0.57	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85548	0.5722	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.80764	0.994;0.904	D	0.87083	0.2167	10	0.87932	D	0	-25.2948	19.3744	0.94502	0.0:0.0:1.0:0.0	.	324;324	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	N	324	ENSP00000313851:D324N	ENSP00000313851:D324N	D	+	1	0	PDS5B	32150979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.756000	0.98918	2.585000	0.87301	0.561000	0.74099	GAT	PDS5B	-	superfamily_ARM-type_fold	ENSG00000083642		0.323	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	112	0.00	0	G	NM_015032		33252979	33252979	+1	no_errors	ENST00000315596	ensembl	human	known	69_37n	missense	159	31.47	73	SNP	1.000	A
PER1	5187	genome.wustl.edu	37	17	8051337	8051337	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:8051337G>A	ENST00000317276.4	-	10	1449	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	PER1_ENST00000354903.5_Silent_p.L388L|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Silent_p.L384L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	404	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TAGCCAGCATGAGGGGTCGGT	0.637			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														dbGAP		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													45.0	40.0	42.0					17																	8051337		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1212C>T	17.37:g.8051337G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA8|B4DI49|D3DTR3	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.L404	ENST00000317276.4	37	c.1212	CCDS11131.1	17																																																																																			PER1	-	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	ENSG00000179094		0.637	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	38	0.00	0	G			8051337	8051337	-1	no_errors	ENST00000317276	ensembl	human	known	69_37n	silent	6	60.00	9	SNP	0.996	A
PER1	5187	genome.wustl.edu	37	17	8051337	8051337	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:8051337G>A	ENST00000317276.4	-	10	1449	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	PER1_ENST00000354903.5_Silent_p.L388L|PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Silent_p.L384L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	404	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TAGCCAGCATGAGGGGTCGGT	0.637			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														dbGAP		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													45.0	40.0	42.0					17																	8051337		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1212C>T	17.37:g.8051337G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA8|B4DI49|D3DTR3	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.L404	ENST00000317276.4	37	c.1212	CCDS11131.1	17																																																																																			PER1	-	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	ENSG00000179094		0.637	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	37	0.00	0	G			8051337	8051337	-1	no_errors	ENST00000317276	ensembl	human	known	69_37n	silent	6	60.00	9	SNP	0.996	A
PFKM	5213	genome.wustl.edu	37	12	48539433	48539433	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr12:48539433C>A	ENST00000312352.7	+	23	2324	c.2285C>A	c.(2284-2286)tCa>tAa	p.S762*	PFKM_ENST00000551804.1_Nonsense_Mutation_p.S731*|PFKM_ENST00000359794.5_Nonsense_Mutation_p.S762*|PFKM_ENST00000547587.1_Nonsense_Mutation_p.S762*|PFKM_ENST00000395233.2_Nonsense_Mutation_p.S731*|PFKM_ENST00000340802.6_Nonsense_Mutation_p.S833*	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	762	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTGGACACTTCAGACCATGCC	0.532																																						dbGAP											0													132.0	103.0	113.0					12																	48539433		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2285C>A	12.37:g.48539433C>A	ENSP00000309438:p.Ser762*	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNX3|Q16814|Q16815|Q6ZTT1	Nonsense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.S762*	ENST00000312352.7	37	c.2285	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	C	41	8.582246	0.98872	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	.	.	.	5.05	5.05	0.67936	.	0.123853	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7237	18.5901	0.91208	0.0:1.0:0.0:0.0	.	.	.	.	X	833;762;731;731;762;762	.	ENSP00000309438:S762X	S	+	2	0	PFKM	46825700	0.995000	0.38212	0.965000	0.40720	0.966000	0.64601	4.621000	0.61233	2.793000	0.96121	0.655000	0.94253	TCA	PFKM	-	superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk	ENSG00000152556		0.532	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	141	0.70	1	C	NM_000289		48539433	48539433	+1	no_errors	ENST00000312352	ensembl	human	known	69_37n	nonsense	86	14.85	15	SNP	1.000	A
PFKM	5213	genome.wustl.edu	37	12	48539433	48539433	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr12:48539433C>A	ENST00000312352.7	+	23	2324	c.2285C>A	c.(2284-2286)tCa>tAa	p.S762*	PFKM_ENST00000551804.1_Nonsense_Mutation_p.S731*|PFKM_ENST00000359794.5_Nonsense_Mutation_p.S762*|PFKM_ENST00000547587.1_Nonsense_Mutation_p.S762*|PFKM_ENST00000395233.2_Nonsense_Mutation_p.S731*|PFKM_ENST00000340802.6_Nonsense_Mutation_p.S833*	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	762	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTGGACACTTCAGACCATGCC	0.532																																						dbGAP											0													132.0	103.0	113.0					12																	48539433		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2285C>A	12.37:g.48539433C>A	ENSP00000309438:p.Ser762*	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNX3|Q16814|Q16815|Q6ZTT1	Nonsense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.S762*	ENST00000312352.7	37	c.2285	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	C	41	8.582246	0.98872	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	.	.	.	5.05	5.05	0.67936	.	0.123853	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7237	18.5901	0.91208	0.0:1.0:0.0:0.0	.	.	.	.	X	833;762;731;731;762;762	.	ENSP00000309438:S762X	S	+	2	0	PFKM	46825700	0.995000	0.38212	0.965000	0.40720	0.966000	0.64601	4.621000	0.61233	2.793000	0.96121	0.655000	0.94253	TCA	PFKM	-	superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk	ENSG00000152556		0.532	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	94	0.00	0	C	NM_000289		48539433	48539433	+1	no_errors	ENST00000312352	ensembl	human	known	69_37n	nonsense	86	14.85	15	SNP	1.000	A
PHYHIP	9796	genome.wustl.edu	37	8	22084524	22084524	+	Missense_Mutation	SNP	C	C	A	rs140307570	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr8:22084524C>A	ENST00000321613.3	-	4	636	c.180G>T	c.(178-180)aaG>aaT	p.K60N	PHYHIP_ENST00000454243.2_Missense_Mutation_p.K60N	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	60	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGGCCACGAGCTTGGTGGGGA	0.627																																						dbGAP											0													41.0	48.0	46.0					8																	22084524		2150	4248	6398	-	-	-	SO:0001583	missense	0			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.180G>T	8.37:g.22084524C>A	ENSP00000320017:p.Lys60Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSR1|Q8N4I9	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.K60N	ENST00000321613.3	37	c.180	CCDS43723.1	8	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433033	0.62844	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000523252	T;T	0.39406	1.08;1.08	5.71	4.65	0.58169	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	L	0.47190	1.495	0.38766	D	0.954439	P	0.44044	0.825	B	0.42653	0.394	T	0.41197	-0.9522	10	0.62326	D	0.03	-37.3303	10.7811	0.46377	0.0:0.8397:0.0:0.1603	.	60	Q92561	PHYIP_HUMAN	N	60;60;12	ENSP00000320017:K60N;ENSP00000415491:K60N	ENSP00000320017:K60N	K	-	3	2	PHYHIP	22140469	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.429000	0.21412	2.687000	0.91594	0.655000	0.94253	AAG	PHYHIP	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168490		0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PHYHIP	HGNC	protein_coding	OTTHUMT00000375388.1	100	0.00	0	C	NM_014759		22084524	22084524	-1	no_errors	ENST00000454243	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	1.000	A
PHYHIP	9796	genome.wustl.edu	37	8	22084524	22084524	+	Missense_Mutation	SNP	C	C	A	rs140307570	byFrequency	TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr8:22084524C>A	ENST00000321613.3	-	4	636	c.180G>T	c.(178-180)aaG>aaT	p.K60N	PHYHIP_ENST00000454243.2_Missense_Mutation_p.K60N	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	60	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGGCCACGAGCTTGGTGGGGA	0.627																																						dbGAP											0													41.0	48.0	46.0					8																	22084524		2150	4248	6398	-	-	-	SO:0001583	missense	0			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.180G>T	8.37:g.22084524C>A	ENSP00000320017:p.Lys60Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSR1|Q8N4I9	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.K60N	ENST00000321613.3	37	c.180	CCDS43723.1	8	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433033	0.62844	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000523252	T;T	0.39406	1.08;1.08	5.71	4.65	0.58169	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	L	0.47190	1.495	0.38766	D	0.954439	P	0.44044	0.825	B	0.42653	0.394	T	0.41197	-0.9522	10	0.62326	D	0.03	-37.3303	10.7811	0.46377	0.0:0.8397:0.0:0.1603	.	60	Q92561	PHYIP_HUMAN	N	60;60;12	ENSP00000320017:K60N;ENSP00000415491:K60N	ENSP00000320017:K60N	K	-	3	2	PHYHIP	22140469	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.429000	0.21412	2.687000	0.91594	0.655000	0.94253	AAG	PHYHIP	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168490		0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PHYHIP	HGNC	protein_coding	OTTHUMT00000375388.1	18	0.00	0	C	NM_014759		22084524	22084524	-1	no_errors	ENST00000454243	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	1.000	A
PJA1	64219	genome.wustl.edu	37	X	68382802	68382802	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:68382802C>T	ENST00000361478.1	-	2	657	c.280G>A	c.(280-282)Gag>Aag	p.E94K	PJA1_ENST00000374583.1_Missense_Mutation_p.E94K|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Missense_Mutation_p.E94K|PJA1_ENST00000374571.4_Missense_Mutation_p.E39K	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	94					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GAATAGTCCTCATTATCAATA	0.498																																						dbGAP											0													106.0	95.0	99.0					X																	68382802		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.280G>A	X.37:g.68382802C>T	ENSP00000355014:p.Glu94Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E94K	ENST00000361478.1	37	c.280	CCDS14393.1	X	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522283	0.44866	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.12774	3.49;3.41;3.41;2.65	3.39	3.39	0.38822	.	0.853519	0.09543	U	0.788012	T	0.17023	0.0409	L	0.28274	0.84	0.31003	N	0.720109	P;P	0.51933	0.877;0.949	B;P	0.55615	0.411;0.78	T	0.03175	-1.1064	10	0.18710	T	0.47	-11.7967	9.5421	0.39257	0.0:1.0:0.0:0.0	.	94;94	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	K	39;94;94;94;39	ENSP00000363712:E94K;ENSP00000363711:E94K;ENSP00000355014:E94K;ENSP00000363699:E39K	ENSP00000355014:E94K	E	-	1	0	PJA1	68299527	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.572000	0.45999	1.996000	0.58369	0.534000	0.68092	GAG	PJA1	-	NULL	ENSG00000181191		0.498	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	133	0.00	0	C	NM_145119		68382802	68382802	-1	no_errors	ENST00000361478	ensembl	human	known	69_37n	missense	47	33.80	24	SNP	1.000	T
PJA1	64219	genome.wustl.edu	37	X	68382802	68382802	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:68382802C>T	ENST00000361478.1	-	2	657	c.280G>A	c.(280-282)Gag>Aag	p.E94K	PJA1_ENST00000374583.1_Missense_Mutation_p.E94K|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Missense_Mutation_p.E94K|PJA1_ENST00000374571.4_Missense_Mutation_p.E39K	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	94					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GAATAGTCCTCATTATCAATA	0.498																																						dbGAP											0													106.0	95.0	99.0					X																	68382802		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.280G>A	X.37:g.68382802C>T	ENSP00000355014:p.Glu94Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E94K	ENST00000361478.1	37	c.280	CCDS14393.1	X	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522283	0.44866	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.12774	3.49;3.41;3.41;2.65	3.39	3.39	0.38822	.	0.853519	0.09543	U	0.788012	T	0.17023	0.0409	L	0.28274	0.84	0.31003	N	0.720109	P;P	0.51933	0.877;0.949	B;P	0.55615	0.411;0.78	T	0.03175	-1.1064	10	0.18710	T	0.47	-11.7967	9.5421	0.39257	0.0:1.0:0.0:0.0	.	94;94	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	K	39;94;94;94;39	ENSP00000363712:E94K;ENSP00000363711:E94K;ENSP00000355014:E94K;ENSP00000363699:E39K	ENSP00000355014:E94K	E	-	1	0	PJA1	68299527	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.572000	0.45999	1.996000	0.58369	0.534000	0.68092	GAG	PJA1	-	NULL	ENSG00000181191		0.498	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	94	0.00	0	C	NM_145119		68382802	68382802	-1	no_errors	ENST00000361478	ensembl	human	known	69_37n	missense	47	33.80	24	SNP	1.000	T
PKHD1	5314	genome.wustl.edu	37	6	51503731	51503731	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:51503731C>G	ENST00000371117.3	-	64	11697	c.11422G>C	c.(11422-11424)Gat>Cat	p.D3808H		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3808					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACATAACCATCTTGAGTTTCT	0.388																																						dbGAP											0													139.0	139.0	139.0					6																	51503731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11422G>C	6.37:g.51503731C>G	ENSP00000360158:p.Asp3808His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.D3808H	ENST00000371117.3	37	c.11422	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851070	0.51270	.	.	ENSG00000170927	ENST00000371117	D	0.87103	-2.21	5.7	3.82	0.43975	.	0.224763	0.38605	N	0.001624	D	0.85492	0.5709	L	0.60455	1.87	0.80722	D	1	D	0.60575	0.988	P	0.56865	0.808	D	0.86461	0.1779	10	0.62326	D	0.03	.	8.7673	0.34711	0.0:0.7444:0.1654:0.0902	.	3808	P08F94	PKHD1_HUMAN	H	3808	ENSP00000360158:D3808H	ENSP00000360158:D3808H	D	-	1	0	PKHD1	51611690	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	1.108000	0.31123	1.408000	0.46895	0.585000	0.79938	GAT	PKHD1	-	NULL	ENSG00000170927		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	418	0.00	0	C	NM_138694		51503731	51503731	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	472	32.18	224	SNP	0.995	G
PKHD1	5314	genome.wustl.edu	37	6	51503731	51503731	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:51503731C>G	ENST00000371117.3	-	64	11697	c.11422G>C	c.(11422-11424)Gat>Cat	p.D3808H		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3808					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACATAACCATCTTGAGTTTCT	0.388																																						dbGAP											0													139.0	139.0	139.0					6																	51503731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11422G>C	6.37:g.51503731C>G	ENSP00000360158:p.Asp3808His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.D3808H	ENST00000371117.3	37	c.11422	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851070	0.51270	.	.	ENSG00000170927	ENST00000371117	D	0.87103	-2.21	5.7	3.82	0.43975	.	0.224763	0.38605	N	0.001624	D	0.85492	0.5709	L	0.60455	1.87	0.80722	D	1	D	0.60575	0.988	P	0.56865	0.808	D	0.86461	0.1779	10	0.62326	D	0.03	.	8.7673	0.34711	0.0:0.7444:0.1654:0.0902	.	3808	P08F94	PKHD1_HUMAN	H	3808	ENSP00000360158:D3808H	ENSP00000360158:D3808H	D	-	1	0	PKHD1	51611690	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	1.108000	0.31123	1.408000	0.46895	0.585000	0.79938	GAT	PKHD1	-	NULL	ENSG00000170927		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	344	0.00	0	C	NM_138694		51503731	51503731	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	472	32.18	224	SNP	0.995	G
PKHD1	5314	genome.wustl.edu	37	6	51890550	51890550	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:51890550G>C	ENST00000371117.3	-	32	4333	c.4058C>G	c.(4057-4059)tCc>tGc	p.S1353C	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1353C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1353	IPT/TIG 8; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGAGGGATGGAGCATCCAGA	0.512																																						dbGAP											0													90.0	80.0	84.0					6																	51890550		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4058C>G	6.37:g.51890550G>C	ENSP00000360158:p.Ser1353Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.S1353C	ENST00000371117.3	37	c.4058	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495496	0.26774	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87966	-2.12;-2.32	5.87	3.1	0.35709	.	0.430552	0.24980	N	0.034065	T	0.77691	0.4168	L	0.53249	1.67	0.21290	N	0.999738	D;D	0.62365	0.991;0.991	P;P	0.52856	0.711;0.62	T	0.69855	-0.5032	10	0.38643	T	0.18	.	3.5321	0.07781	0.142:0.1363:0.58:0.1417	.	1353;1353	P08F94-2;P08F94	.;PKHD1_HUMAN	C	1353	ENSP00000360158:S1353C;ENSP00000341097:S1353C	ENSP00000341097:S1353C	S	-	2	0	PKHD1	51998509	0.958000	0.32768	0.075000	0.20258	0.105000	0.19272	2.262000	0.43285	0.377000	0.24735	0.655000	0.94253	TCC	PKHD1	-	NULL	ENSG00000170927		0.512	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	216	0.00	0	G	NM_138694		51890550	51890550	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	148	32.42	71	SNP	0.726	C
PKHD1	5314	genome.wustl.edu	37	6	51890550	51890550	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:51890550G>C	ENST00000371117.3	-	32	4333	c.4058C>G	c.(4057-4059)tCc>tGc	p.S1353C	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1353C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1353	IPT/TIG 8; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGAGGGATGGAGCATCCAGA	0.512																																						dbGAP											0													90.0	80.0	84.0					6																	51890550		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4058C>G	6.37:g.51890550G>C	ENSP00000360158:p.Ser1353Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.S1353C	ENST00000371117.3	37	c.4058	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495496	0.26774	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87966	-2.12;-2.32	5.87	3.1	0.35709	.	0.430552	0.24980	N	0.034065	T	0.77691	0.4168	L	0.53249	1.67	0.21290	N	0.999738	D;D	0.62365	0.991;0.991	P;P	0.52856	0.711;0.62	T	0.69855	-0.5032	10	0.38643	T	0.18	.	3.5321	0.07781	0.142:0.1363:0.58:0.1417	.	1353;1353	P08F94-2;P08F94	.;PKHD1_HUMAN	C	1353	ENSP00000360158:S1353C;ENSP00000341097:S1353C	ENSP00000341097:S1353C	S	-	2	0	PKHD1	51998509	0.958000	0.32768	0.075000	0.20258	0.105000	0.19272	2.262000	0.43285	0.377000	0.24735	0.655000	0.94253	TCC	PKHD1	-	NULL	ENSG00000170927		0.512	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	188	0.00	0	G	NM_138694		51890550	51890550	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	148	32.42	71	SNP	0.726	C
PKP1	5317	genome.wustl.edu	37	1	201292174	201292174	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:201292174G>C	ENST00000352845.3	+	10	1600	c.1600G>C	c.(1600-1602)Gag>Cag	p.E534Q	PKP1_ENST00000263946.3_Missense_Mutation_p.E534Q|PKP1_ENST00000367324.3_Missense_Mutation_p.E513Q			Q13835	PKP1_HUMAN	plakophilin 1	534					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCCTGAGGAAGAGACCAACCC	0.567																																						dbGAP											0													128.0	132.0	130.0					1																	201292174		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1600G>C	1.37:g.201292174G>C	ENSP00000295597:p.Glu534Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00645|Q14CA0|Q15152	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E534Q	ENST00000352845.3	37	c.1600	CCDS30966.1	1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542322	0.65198	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.75260	-0.92;-0.92;-0.92	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.148213	0.64402	D	0.000017	T	0.68256	0.2981	L	0.29908	0.895	0.50632	D	0.999885	B;P;P	0.48640	0.182;0.744;0.913	B;B;B	0.44044	0.067;0.439;0.424	T	0.67417	-0.5676	10	0.30854	T	0.27	-19.3532	19.0682	0.93122	0.0:0.0:1.0:0.0	.	121;513;534	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	Q	513;534;534	ENSP00000356293:E513Q;ENSP00000263946:E534Q;ENSP00000295597:E534Q	ENSP00000263946:E534Q	E	+	1	0	PKP1	199558797	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.567000	0.90737	2.571000	0.86741	0.591000	0.81541	GAG	PKP1	-	superfamily_ARM-type_fold	ENSG00000081277		0.567	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	89	0.00	0	G	NM_000299		201292174	201292174	+1	no_errors	ENST00000263946	ensembl	human	known	69_37n	missense	51	36.25	29	SNP	1.000	C
PKP1	5317	genome.wustl.edu	37	1	201292174	201292174	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:201292174G>C	ENST00000352845.3	+	10	1600	c.1600G>C	c.(1600-1602)Gag>Cag	p.E534Q	PKP1_ENST00000263946.3_Missense_Mutation_p.E534Q|PKP1_ENST00000367324.3_Missense_Mutation_p.E513Q			Q13835	PKP1_HUMAN	plakophilin 1	534					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCCTGAGGAAGAGACCAACCC	0.567																																						dbGAP											0													128.0	132.0	130.0					1																	201292174		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1600G>C	1.37:g.201292174G>C	ENSP00000295597:p.Glu534Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00645|Q14CA0|Q15152	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E534Q	ENST00000352845.3	37	c.1600	CCDS30966.1	1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542322	0.65198	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.75260	-0.92;-0.92;-0.92	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.148213	0.64402	D	0.000017	T	0.68256	0.2981	L	0.29908	0.895	0.50632	D	0.999885	B;P;P	0.48640	0.182;0.744;0.913	B;B;B	0.44044	0.067;0.439;0.424	T	0.67417	-0.5676	10	0.30854	T	0.27	-19.3532	19.0682	0.93122	0.0:0.0:1.0:0.0	.	121;513;534	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	Q	513;534;534	ENSP00000356293:E513Q;ENSP00000263946:E534Q;ENSP00000295597:E534Q	ENSP00000263946:E534Q	E	+	1	0	PKP1	199558797	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.567000	0.90737	2.571000	0.86741	0.591000	0.81541	GAG	PKP1	-	superfamily_ARM-type_fold	ENSG00000081277		0.567	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	100	0.00	0	G	NM_000299		201292174	201292174	+1	no_errors	ENST00000263946	ensembl	human	known	69_37n	missense	51	36.25	29	SNP	1.000	C
PKP4	8502	genome.wustl.edu	37	2	159488403	159488403	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:159488403G>A	ENST00000389759.3	+	8	1404	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	PKP4_ENST00000389757.3_Missense_Mutation_p.G431E	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	431					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCAAACCATGGAACTGTGGAG	0.532										HNSCC(62;0.18)																												dbGAP											0													124.0	112.0	116.0					2																	159488403		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1292G>A	2.37:g.159488403G>A	ENSP00000374409:p.Gly431Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G431E	ENST00000389759.3	37	c.1292	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102767	0.56183	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.73152	-0.72;-0.72	5.97	5.1	0.69264	.	0.495687	0.23100	N	0.051937	T	0.66925	0.2839	N	0.22421	0.69	0.51233	D	0.999916	D;P;B;P;D	0.62365	0.991;0.808;0.013;0.501;0.985	P;B;B;B;P	0.55455	0.776;0.244;0.007;0.118;0.763	T	0.64533	-0.6385	10	0.30854	T	0.27	-11.8171	10.8511	0.46771	0.068:0.1298:0.8022:0.0	.	283;387;431;431;282	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;.;PKP4_HUMAN;.	E	282;431;431	ENSP00000374407:G431E;ENSP00000374409:G431E	ENSP00000374407:G431E	G	+	2	0	PKP4	159196649	0.999000	0.42202	0.960000	0.40013	0.995000	0.86356	3.040000	0.49799	1.535000	0.49220	0.655000	0.94253	GGA	PKP4	-	NULL	ENSG00000144283		0.532	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	117	0.00	0	G			159488403	159488403	+1	no_errors	ENST00000389759	ensembl	human	known	69_37n	missense	87	28.10	34	SNP	0.995	A
PKP4	8502	genome.wustl.edu	37	2	159488403	159488403	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:159488403G>A	ENST00000389759.3	+	8	1404	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	PKP4_ENST00000389757.3_Missense_Mutation_p.G431E	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	431					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCAAACCATGGAACTGTGGAG	0.532										HNSCC(62;0.18)																												dbGAP											0													124.0	112.0	116.0					2																	159488403		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1292G>A	2.37:g.159488403G>A	ENSP00000374409:p.Gly431Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G431E	ENST00000389759.3	37	c.1292	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102767	0.56183	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.73152	-0.72;-0.72	5.97	5.1	0.69264	.	0.495687	0.23100	N	0.051937	T	0.66925	0.2839	N	0.22421	0.69	0.51233	D	0.999916	D;P;B;P;D	0.62365	0.991;0.808;0.013;0.501;0.985	P;B;B;B;P	0.55455	0.776;0.244;0.007;0.118;0.763	T	0.64533	-0.6385	10	0.30854	T	0.27	-11.8171	10.8511	0.46771	0.068:0.1298:0.8022:0.0	.	283;387;431;431;282	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;.;PKP4_HUMAN;.	E	282;431;431	ENSP00000374407:G431E;ENSP00000374409:G431E	ENSP00000374407:G431E	G	+	2	0	PKP4	159196649	0.999000	0.42202	0.960000	0.40013	0.995000	0.86356	3.040000	0.49799	1.535000	0.49220	0.655000	0.94253	GGA	PKP4	-	NULL	ENSG00000144283		0.532	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	76	0.00	0	G			159488403	159488403	+1	no_errors	ENST00000389759	ensembl	human	known	69_37n	missense	87	28.10	34	SNP	0.995	A
POLQ	10721	genome.wustl.edu	37	3	121238843	121238843	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr3:121238843G>T	ENST00000264233.5	-	9	1471	c.1343C>A	c.(1342-1344)tCt>tAt	p.S448Y	POLQ_ENST00000488282.1_5'Flank	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	448	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATTCACCCCAGAAGAAAGAGT	0.448								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	dbGAP											0													99.0	107.0	104.0					3																	121238843		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1343C>A	3.37:g.121238843G>T	ENSP00000264233:p.Ser448Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.S448Y	ENST00000264233.5	37	c.1343	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825646	0.90955	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.43294	0.95	5.52	5.52	0.82312	Helicase, C-terminal (3);	0.157599	0.64402	D	0.000016	T	0.46619	0.1402	N	0.05351	-0.065	0.80722	D	1	P	0.44877	0.845	P	0.61533	0.89	T	0.57849	-0.7740	10	0.87932	D	0	.	19.4409	0.94820	0.0:0.0:1.0:0.0	.	448	O75417	DPOLQ_HUMAN	Y	71;448;585	ENSP00000264233:S448Y	ENSP00000264233:S448Y	S	-	2	0	POLQ	122721533	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.227000	0.95236	2.589000	0.87451	0.655000	0.94253	TCT	POLQ	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000051341		0.448	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	276	0.36	1	G	NM_199420		121238843	121238843	-1	no_errors	ENST00000264233	ensembl	human	known	69_37n	missense	178	33.70	92	SNP	1.000	T
POLQ	10721	genome.wustl.edu	37	3	121238843	121238843	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr3:121238843G>T	ENST00000264233.5	-	9	1471	c.1343C>A	c.(1342-1344)tCt>tAt	p.S448Y	POLQ_ENST00000488282.1_5'Flank	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	448	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATTCACCCCAGAAGAAAGAGT	0.448								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	dbGAP											0													99.0	107.0	104.0					3																	121238843		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1343C>A	3.37:g.121238843G>T	ENSP00000264233:p.Ser448Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.S448Y	ENST00000264233.5	37	c.1343	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825646	0.90955	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.43294	0.95	5.52	5.52	0.82312	Helicase, C-terminal (3);	0.157599	0.64402	D	0.000016	T	0.46619	0.1402	N	0.05351	-0.065	0.80722	D	1	P	0.44877	0.845	P	0.61533	0.89	T	0.57849	-0.7740	10	0.87932	D	0	.	19.4409	0.94820	0.0:0.0:1.0:0.0	.	448	O75417	DPOLQ_HUMAN	Y	71;448;585	ENSP00000264233:S448Y	ENSP00000264233:S448Y	S	-	2	0	POLQ	122721533	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.227000	0.95236	2.589000	0.87451	0.655000	0.94253	TCT	POLQ	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000051341		0.448	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	149	0.00	0	G	NM_199420		121238843	121238843	-1	no_errors	ENST00000264233	ensembl	human	known	69_37n	missense	178	33.70	92	SNP	1.000	T
POM121	9883	genome.wustl.edu	37	7	72397433	72397433	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr7:72397433G>C	ENST00000434423.2	+	3	954	c.954G>C	c.(952-954)gaG>gaC	p.E318D	POM121_ENST00000358357.3_Missense_Mutation_p.E53D|POM121_ENST00000446813.1_Missense_Mutation_p.E53D|POM121_ENST00000257622.4_Missense_Mutation_p.E53D|RP11-313P13.5_ENST00000608799.1_RNA|POM121_ENST00000395270.1_Missense_Mutation_p.E53D			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	318	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCCTCAAAGAGAAGGAGAAGA	0.463																																						dbGAP											0													296.0	292.0	293.0					7																	72397433		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.954G>C	7.37:g.72397433G>C	ENSP00000405562:p.Glu318Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.E318D	ENST00000434423.2	37	c.954		7	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950485	0.53186	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	3.75	2.85	0.33270	.	0.350989	0.20468	N	0.091760	T	0.39306	0.1073	M	0.82716	2.605	0.39445	D	0.967311	D;D	0.65815	0.995;0.995	P;D	0.66196	0.795;0.942	T	0.32508	-0.9904	10	0.72032	D	0.01	.	8.707	0.34360	0.113:0.0:0.887:0.0	.	53;318	A8MXF9;Q96HA1	.;P121A_HUMAN	D	53;53;53;53;318	ENSP00000393020:E53D;ENSP00000257622:E53D;ENSP00000378687:E53D;ENSP00000351124:E53D;ENSP00000405562:E318D	ENSP00000257622:E53D	E	+	3	2	POM121	72035369	1.000000	0.71417	0.993000	0.49108	0.891000	0.51852	1.091000	0.30915	0.754000	0.32968	0.454000	0.30748	GAG	POM121	-	NULL	ENSG00000196313		0.463	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	223	0.00	0	G			72397433	72397433	+1	no_errors	ENST00000434423	ensembl	human	known	69_37n	missense	81	34.15	42	SNP	1.000	C
POM121	9883	genome.wustl.edu	37	7	72397433	72397433	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr7:72397433G>C	ENST00000434423.2	+	3	954	c.954G>C	c.(952-954)gaG>gaC	p.E318D	POM121_ENST00000358357.3_Missense_Mutation_p.E53D|POM121_ENST00000446813.1_Missense_Mutation_p.E53D|POM121_ENST00000257622.4_Missense_Mutation_p.E53D|RP11-313P13.5_ENST00000608799.1_RNA|POM121_ENST00000395270.1_Missense_Mutation_p.E53D			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	318	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCCTCAAAGAGAAGGAGAAGA	0.463																																						dbGAP											0													296.0	292.0	293.0					7																	72397433		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.954G>C	7.37:g.72397433G>C	ENSP00000405562:p.Glu318Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.E318D	ENST00000434423.2	37	c.954		7	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950485	0.53186	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	3.75	2.85	0.33270	.	0.350989	0.20468	N	0.091760	T	0.39306	0.1073	M	0.82716	2.605	0.39445	D	0.967311	D;D	0.65815	0.995;0.995	P;D	0.66196	0.795;0.942	T	0.32508	-0.9904	10	0.72032	D	0.01	.	8.707	0.34360	0.113:0.0:0.887:0.0	.	53;318	A8MXF9;Q96HA1	.;P121A_HUMAN	D	53;53;53;53;318	ENSP00000393020:E53D;ENSP00000257622:E53D;ENSP00000378687:E53D;ENSP00000351124:E53D;ENSP00000405562:E318D	ENSP00000257622:E53D	E	+	3	2	POM121	72035369	1.000000	0.71417	0.993000	0.49108	0.891000	0.51852	1.091000	0.30915	0.754000	0.32968	0.454000	0.30748	GAG	POM121	-	NULL	ENSG00000196313		0.463	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	260	0.38	1	G			72397433	72397433	+1	no_errors	ENST00000434423	ensembl	human	known	69_37n	missense	81	34.15	42	SNP	1.000	C
PRRT1	80863	genome.wustl.edu	37	6	32117479	32117479	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:32117479C>T	ENST00000211413.5	-	3	703	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PRRT1_ENST00000375150.2_Silent_p.P112P|PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375152.2_Silent_p.P112P	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	193					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CTGTTCCCCCCGGGGTCCCGC	0.692																																						dbGAP											0													11.0	14.0	13.0					6																	32117479		1489	2690	4179	-	-	-	SO:0001819	synonymous_variant	0			AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.579G>A	6.37:g.32117479C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Silent	SNP	pfam_Interferon-induced_TM_protein	p.P193	ENST00000211413.5	37	c.579	CCDS4739.1	6																																																																																			PRRT1	-	NULL	ENSG00000204314		0.692	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT1	HGNC	protein_coding	OTTHUMT00000076255.2	20	0.00	0	C	NM_030651		32117479	32117479	-1	no_errors	ENST00000211413	ensembl	human	known	69_37n	silent	9	37.50	6	SNP	0.563	T
PRRT1	80863	genome.wustl.edu	37	6	32117479	32117479	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:32117479C>T	ENST00000211413.5	-	3	703	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PRRT1_ENST00000375150.2_Silent_p.P112P|PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375152.2_Silent_p.P112P	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	193					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CTGTTCCCCCCGGGGTCCCGC	0.692																																						dbGAP											0													11.0	14.0	13.0					6																	32117479		1489	2690	4179	-	-	-	SO:0001819	synonymous_variant	0			AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.579G>A	6.37:g.32117479C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Silent	SNP	pfam_Interferon-induced_TM_protein	p.P193	ENST00000211413.5	37	c.579	CCDS4739.1	6																																																																																			PRRT1	-	NULL	ENSG00000204314		0.692	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT1	HGNC	protein_coding	OTTHUMT00000076255.2	9	0.00	0	C	NM_030651		32117479	32117479	-1	no_errors	ENST00000211413	ensembl	human	known	69_37n	silent	9	37.50	6	SNP	0.563	T
PSG9	5678	genome.wustl.edu	37	19	43763165	43763165	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:43763165G>C	ENST00000270077.3	-	4	928	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Missense_Mutation_p.Q185E|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.Q185E|PSG9_ENST00000596730.1_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	278	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGGAGGCTCTGACCGTTTAGC	0.478																																						dbGAP											0													215.0	227.0	223.0					19																	43763165		2144	4281	6425	-	-	-	SO:0001583	missense	0			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.832C>G	19.37:g.43763165G>C	ENSP00000270077:p.Gln278Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q278E	ENST00000270077.3	37	c.832	CCDS12618.1	19	.	.	.	.	.	.	.	.	.	.	N	8.676	0.903978	0.17760	.	.	ENSG00000183668	ENST00000270077;ENST00000443718;ENST00000435220	T;T	0.11495	2.77;2.77	0.805	-0.625	0.11548	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13200	0.0320	L	0.59967	1.855	0.09310	N	1	B;B	0.31174	0.311;0.0	B;B	0.42593	0.392;0.012	T	0.42899	-0.9424	9	0.23302	T	0.38	.	3.7944	0.08733	0.0:0.0:0.5782:0.4218	.	185;278	E7EW65;Q00887	.;PSG9_HUMAN	E	278;185;239	ENSP00000270077:Q278E;ENSP00000396753:Q185E	ENSP00000270077:Q278E	Q	-	1	0	PSG9	48455005	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-0.316000	0.08071	-0.125000	0.11703	0.194000	0.17425	CAG	PSG9	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000183668		0.478	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	HGNC	protein_coding	OTTHUMT00000323065.1	498	0.00	0	G	NM_002784		43763165	43763165	-1	no_errors	ENST00000270077	ensembl	human	known	69_37n	missense	385	28.97	157	SNP	0.001	C
PSG9	5678	genome.wustl.edu	37	19	43763165	43763165	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:43763165G>C	ENST00000270077.3	-	4	928	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Missense_Mutation_p.Q185E|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.Q185E|PSG9_ENST00000596730.1_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	278	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGGAGGCTCTGACCGTTTAGC	0.478																																						dbGAP											0													215.0	227.0	223.0					19																	43763165		2144	4281	6425	-	-	-	SO:0001583	missense	0			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.832C>G	19.37:g.43763165G>C	ENSP00000270077:p.Gln278Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q278E	ENST00000270077.3	37	c.832	CCDS12618.1	19	.	.	.	.	.	.	.	.	.	.	N	8.676	0.903978	0.17760	.	.	ENSG00000183668	ENST00000270077;ENST00000443718;ENST00000435220	T;T	0.11495	2.77;2.77	0.805	-0.625	0.11548	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13200	0.0320	L	0.59967	1.855	0.09310	N	1	B;B	0.31174	0.311;0.0	B;B	0.42593	0.392;0.012	T	0.42899	-0.9424	9	0.23302	T	0.38	.	3.7944	0.08733	0.0:0.0:0.5782:0.4218	.	185;278	E7EW65;Q00887	.;PSG9_HUMAN	E	278;185;239	ENSP00000270077:Q278E;ENSP00000396753:Q185E	ENSP00000270077:Q278E	Q	-	1	0	PSG9	48455005	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-0.316000	0.08071	-0.125000	0.11703	0.194000	0.17425	CAG	PSG9	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000183668		0.478	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	HGNC	protein_coding	OTTHUMT00000323065.1	357	0.00	0	G	NM_002784		43763165	43763165	-1	no_errors	ENST00000270077	ensembl	human	known	69_37n	missense	385	28.97	157	SNP	0.001	C
PSMB11	122706	genome.wustl.edu	37	14	23512055	23512055	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr14:23512055C>T	ENST00000408907.2	+	1	680	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	207					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TGGCTCGCTGCGCCGTGGCCC	0.617																																						dbGAP											0													39.0	41.0	41.0					14																	23512055		2127	4244	6371	-	-	-	SO:0001819	synonymous_variant	0				CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.621C>T	14.37:g.23512055C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.C207	ENST00000408907.2	37	c.621	CCDS41923.1	14																																																																																			PSMB11	-	pfam_Proteasome_sua/b	ENSG00000222028		0.617	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB11	HGNC	protein_coding	OTTHUMT00000408294.1	58	0.00	0	C	NM_001099780		23512055	23512055	+1	no_errors	ENST00000408907	ensembl	human	known	69_37n	silent	20	33.33	10	SNP	0.000	T
PSMB11	122706	genome.wustl.edu	37	14	23512055	23512055	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr14:23512055C>T	ENST00000408907.2	+	1	680	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	207					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TGGCTCGCTGCGCCGTGGCCC	0.617																																						dbGAP											0													39.0	41.0	41.0					14																	23512055		2127	4244	6371	-	-	-	SO:0001819	synonymous_variant	0				CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.621C>T	14.37:g.23512055C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.C207	ENST00000408907.2	37	c.621	CCDS41923.1	14																																																																																			PSMB11	-	pfam_Proteasome_sua/b	ENSG00000222028		0.617	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB11	HGNC	protein_coding	OTTHUMT00000408294.1	24	0.00	0	C	NM_001099780		23512055	23512055	+1	no_errors	ENST00000408907	ensembl	human	known	69_37n	silent	20	33.33	10	SNP	0.000	T
PTGDS	5730	genome.wustl.edu	37	9	139873688	139873688	+	Missense_Mutation	SNP	G	G	A	rs192576424		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr9:139873688G>A	ENST00000371625.3	+	3	342	c.268G>A	c.(268-270)Gag>Aag	p.E90K	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000224167.2_Missense_Mutation_p.E90K|RP11-229P13.19_ENST00000413913.2_RNA	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	90					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AAACCAGTGTGAGACCCGAAC	0.682													g|||	1	0.000199681	0.0008	0.0	5008	,	,		11915	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001583	missense	0			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.268G>A	9.37:g.139873688G>A	ENSP00000360687:p.Glu90Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth	p.E90K	ENST00000371625.3	37	c.268	CCDS7019.1	9	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	21.3	4.135368	0.77662	.	.	ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625;ENST00000371623	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	4.81	3.87	0.44632	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.191188	0.34178	N	0.004184	T	0.24509	0.0594	M	0.65975	2.015	0.38474	D	0.947535	D	0.76494	0.999	D	0.68192	0.956	T	0.02391	-1.1166	10	0.45353	T	0.12	-4.6922	13.4627	0.61235	0.0:0.1589:0.8411:0.0	.	90	P41222	PTGDS_HUMAN	K	90	ENSP00000224167:E90K;ENSP00000392633:E90K;ENSP00000360687:E90K;ENSP00000360685:E90K	ENSP00000224167:E90K	E	+	1	0	PTGDS	138993509	0.998000	0.40836	0.979000	0.43373	0.911000	0.54048	1.677000	0.37576	0.946000	0.37632	0.457000	0.33378	GAG	PTGDS	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth	ENSG00000107317		0.682	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDS	HGNC	protein_coding	OTTHUMT00000055188.1	19	0.00	0	G	NM_000954		139873688	139873688	+1	no_errors	ENST00000224167	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	0.977	A
PTGDS	5730	genome.wustl.edu	37	9	139873688	139873688	+	Missense_Mutation	SNP	G	G	A	rs192576424		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr9:139873688G>A	ENST00000371625.3	+	3	342	c.268G>A	c.(268-270)Gag>Aag	p.E90K	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000224167.2_Missense_Mutation_p.E90K|RP11-229P13.19_ENST00000413913.2_RNA	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	90					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AAACCAGTGTGAGACCCGAAC	0.682													g|||	1	0.000199681	0.0008	0.0	5008	,	,		11915	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001583	missense	0			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.268G>A	9.37:g.139873688G>A	ENSP00000360687:p.Glu90Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth	p.E90K	ENST00000371625.3	37	c.268	CCDS7019.1	9	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	21.3	4.135368	0.77662	.	.	ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625;ENST00000371623	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	4.81	3.87	0.44632	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.191188	0.34178	N	0.004184	T	0.24509	0.0594	M	0.65975	2.015	0.38474	D	0.947535	D	0.76494	0.999	D	0.68192	0.956	T	0.02391	-1.1166	10	0.45353	T	0.12	-4.6922	13.4627	0.61235	0.0:0.1589:0.8411:0.0	.	90	P41222	PTGDS_HUMAN	K	90	ENSP00000224167:E90K;ENSP00000392633:E90K;ENSP00000360687:E90K;ENSP00000360685:E90K	ENSP00000224167:E90K	E	+	1	0	PTGDS	138993509	0.998000	0.40836	0.979000	0.43373	0.911000	0.54048	1.677000	0.37576	0.946000	0.37632	0.457000	0.33378	GAG	PTGDS	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth	ENSG00000107317		0.682	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDS	HGNC	protein_coding	OTTHUMT00000055188.1	17	0.00	0	G	NM_000954		139873688	139873688	+1	no_errors	ENST00000224167	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	0.977	A
TBC1D1	23216	genome.wustl.edu	37	4	37962331	37962331	+	Intron	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:37962331G>C	ENST00000261439.4	+	3	772				TBC1D1_ENST00000508802.1_Intron|PTTG2_ENST00000504686.1_Missense_Mutation_p.K92N	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTGCCAAAAAGATGACCGAGA	0.408																																						dbGAP											0													83.0	93.0	90.0					4																	37962331		2202	4299	6501	-	-	-	SO:0001627	intron_variant	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53799G>C	4.37:g.37962331G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Securin_separation_inhibitor	p.K92N	ENST00000261439.4	37	c.276	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	G	6.916	0.538655	0.13250	.	.	ENSG00000250254	ENST00000504686	T	0.45668	0.89	1.9	0.977	0.19733	.	.	.	.	.	T	0.39911	0.1096	M	0.78916	2.43	0.09310	N	1	B	0.28233	0.204	B	0.28709	0.093	T	0.46938	-0.9155	9	0.72032	D	0.01	.	3.5513	0.07847	0.2531:0.0:0.7468:0.0	.	92	Q9NZH5-2	.	N	92	ENSP00000424261:K92N	ENSP00000424261:K92N	K	+	3	2	PTTG2	37638726	0.185000	0.23213	0.021000	0.16686	0.080000	0.17528	1.976000	0.40579	1.025000	0.39708	0.461000	0.40582	AAG	PTTG2	-	pfam_Securin_separation_inhibitor	ENSG00000250254		0.408	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTTG2	HGNC	protein_coding	OTTHUMT00000317443.2	339	0.00	0	G	NM_015173		37962331	37962331	+1	no_errors	ENST00000504686	ensembl	human	known	69_37n	missense	290	31.12	131	SNP	0.015	C
TBC1D1	23216	genome.wustl.edu	37	4	37962331	37962331	+	Intron	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:37962331G>C	ENST00000261439.4	+	3	772				TBC1D1_ENST00000508802.1_Intron|PTTG2_ENST00000504686.1_Missense_Mutation_p.K92N	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTGCCAAAAAGATGACCGAGA	0.408																																						dbGAP											0													83.0	93.0	90.0					4																	37962331		2202	4299	6501	-	-	-	SO:0001627	intron_variant	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53799G>C	4.37:g.37962331G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Securin_separation_inhibitor	p.K92N	ENST00000261439.4	37	c.276	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	G	6.916	0.538655	0.13250	.	.	ENSG00000250254	ENST00000504686	T	0.45668	0.89	1.9	0.977	0.19733	.	.	.	.	.	T	0.39911	0.1096	M	0.78916	2.43	0.09310	N	1	B	0.28233	0.204	B	0.28709	0.093	T	0.46938	-0.9155	9	0.72032	D	0.01	.	3.5513	0.07847	0.2531:0.0:0.7468:0.0	.	92	Q9NZH5-2	.	N	92	ENSP00000424261:K92N	ENSP00000424261:K92N	K	+	3	2	PTTG2	37638726	0.185000	0.23213	0.021000	0.16686	0.080000	0.17528	1.976000	0.40579	1.025000	0.39708	0.461000	0.40582	AAG	PTTG2	-	pfam_Securin_separation_inhibitor	ENSG00000250254		0.408	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTTG2	HGNC	protein_coding	OTTHUMT00000317443.2	294	0.00	0	G	NM_015173		37962331	37962331	+1	no_errors	ENST00000504686	ensembl	human	known	69_37n	missense	290	31.12	131	SNP	0.015	C
RABGGTA	5875	genome.wustl.edu	37	14	24740088	24740088	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr14:24740088C>T	ENST00000399409.3	-	2	552	c.69G>A	c.(67-69)caG>caA	p.Q23Q	RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000560777.1_5'Flank|RABGGTA_ENST00000216840.6_Silent_p.Q23Q	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	23					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCTTCAGCTTCTGCTCTCGCT	0.572																																						dbGAP											0													69.0	69.0	69.0					14																	24740088		2001	4184	6185	-	-	-	SO:0001819	synonymous_variant	0				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.69G>A	14.37:g.24740088C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5N2|D3DS69	Silent	SNP	pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a	p.Q23	ENST00000399409.3	37	c.69	CCDS45088.1	14																																																																																			RABGGTA	-	NULL	ENSG00000100949		0.572	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RABGGTA	HGNC	protein_coding	OTTHUMT00000415308.5	19	0.00	0	C	NM_182836		24740088	24740088	-1	no_errors	ENST00000216840	ensembl	human	known	69_37n	silent	13	43.48	10	SNP	1.000	T
RABGGTA	5875	genome.wustl.edu	37	14	24740088	24740088	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr14:24740088C>T	ENST00000399409.3	-	2	552	c.69G>A	c.(67-69)caG>caA	p.Q23Q	RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000560777.1_5'Flank|RABGGTA_ENST00000216840.6_Silent_p.Q23Q	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	23					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCTTCAGCTTCTGCTCTCGCT	0.572																																						dbGAP											0													69.0	69.0	69.0					14																	24740088		2001	4184	6185	-	-	-	SO:0001819	synonymous_variant	0				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.69G>A	14.37:g.24740088C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5N2|D3DS69	Silent	SNP	pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a	p.Q23	ENST00000399409.3	37	c.69	CCDS45088.1	14																																																																																			RABGGTA	-	NULL	ENSG00000100949		0.572	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RABGGTA	HGNC	protein_coding	OTTHUMT00000415308.5	24	0.00	0	C	NM_182836		24740088	24740088	-1	no_errors	ENST00000216840	ensembl	human	known	69_37n	silent	13	43.48	10	SNP	1.000	T
RANBP6	26953	genome.wustl.edu	37	9	6015088	6015088	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr9:6015088C>G	ENST00000259569.5	-	1	530	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	174					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCATGCCGCTCTTGGGTCCCA	0.433																																						dbGAP											0													62.0	58.0	59.0					9																	6015088		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.520G>C	9.37:g.6015088C>G	ENSP00000259569:p.Glu174Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.E174Q	ENST00000259569.5	37	c.520	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134628	0.01742	.	.	ENSG00000137040	ENST00000259569	T	0.67865	-0.29	4.64	2.8	0.32819	Armadillo-like helical (1);Armadillo-type fold (1);	0.118515	0.64402	D	0.000016	T	0.25827	0.0629	N	0.00227	-1.8	0.25909	N	0.983258	B	0.06786	0.001	B	0.04013	0.001	T	0.28776	-1.0033	10	0.20519	T	0.43	-4.8142	8.2889	0.31946	0.1679:0.5071:0.325:0.0	.	174	O60518	RNBP6_HUMAN	Q	174	ENSP00000259569:E174Q	ENSP00000259569:E174Q	E	-	1	0	RANBP6	6005088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.819000	0.62664	0.886000	0.36113	0.655000	0.94253	GAG	RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.433	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	86	0.00	0	C	NM_012416		6015088	6015088	-1	no_errors	ENST00000259569	ensembl	human	known	69_37n	missense	47	34.72	25	SNP	1.000	G
RANBP6	26953	genome.wustl.edu	37	9	6015088	6015088	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr9:6015088C>G	ENST00000259569.5	-	1	530	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	174					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCATGCCGCTCTTGGGTCCCA	0.433																																						dbGAP											0													62.0	58.0	59.0					9																	6015088		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.520G>C	9.37:g.6015088C>G	ENSP00000259569:p.Glu174Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.E174Q	ENST00000259569.5	37	c.520	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134628	0.01742	.	.	ENSG00000137040	ENST00000259569	T	0.67865	-0.29	4.64	2.8	0.32819	Armadillo-like helical (1);Armadillo-type fold (1);	0.118515	0.64402	D	0.000016	T	0.25827	0.0629	N	0.00227	-1.8	0.25909	N	0.983258	B	0.06786	0.001	B	0.04013	0.001	T	0.28776	-1.0033	10	0.20519	T	0.43	-4.8142	8.2889	0.31946	0.1679:0.5071:0.325:0.0	.	174	O60518	RNBP6_HUMAN	Q	174	ENSP00000259569:E174Q	ENSP00000259569:E174Q	E	-	1	0	RANBP6	6005088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.819000	0.62664	0.886000	0.36113	0.655000	0.94253	GAG	RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.433	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	74	0.00	0	C	NM_012416		6015088	6015088	-1	no_errors	ENST00000259569	ensembl	human	known	69_37n	missense	47	34.72	25	SNP	1.000	G
RANGAP1	5905	genome.wustl.edu	37	22	41677000	41677000	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr22:41677000G>C	ENST00000455915.2	-	1	1518	c.49C>G	c.(49-51)Cag>Gag	p.Q17E	RANGAP1_ENST00000356244.3_Missense_Mutation_p.Q17E|RANGAP1_ENST00000407260.4_5'Flank|RANGAP1_ENST00000405486.1_Missense_Mutation_p.Q17E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	17					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGGCCACCTGAGTCTTGGCA	0.557																																						dbGAP											0													102.0	88.0	92.0					22																	41677000		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.49C>G	22.37:g.41677000G>C	ENSP00000401470:p.Gln17Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JJ2	Missense_Mutation	SNP	pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.Q17E	ENST00000455915.2	37	c.49	CCDS14012.1	22	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941321	0.34283	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000452543;ENST00000418067;ENST00000422838	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.44	5.44	0.79542	.	0.421084	0.28182	N	0.016288	T	0.45155	0.1328	L	0.58810	1.83	0.80722	D	1	B	0.17038	0.02	B	0.18263	0.021	T	0.33803	-0.9854	10	0.39692	T	0.17	-27.3846	12.978	0.58547	0.0:0.0:0.7318:0.2682	.	17	P46060	RAGP1_HUMAN	E	17	ENSP00000385866:Q17E;ENSP00000348577:Q17E;ENSP00000401470:Q17E;ENSP00000394787:Q17E	ENSP00000348577:Q17E	Q	-	1	0	RANGAP1	40006946	0.974000	0.33945	1.000000	0.80357	0.975000	0.68041	1.675000	0.37555	2.567000	0.86603	0.556000	0.70494	CAG	RANGAP1	-	NULL	ENSG00000100401		0.557	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RANGAP1	HGNC	protein_coding	OTTHUMT00000320606.1	109	0.00	0	G	NM_002883		41677000	41677000	-1	no_errors	ENST00000356244	ensembl	human	known	69_37n	missense	58	23.68	18	SNP	1.000	C
RANGAP1	5905	genome.wustl.edu	37	22	41677000	41677000	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr22:41677000G>C	ENST00000455915.2	-	1	1518	c.49C>G	c.(49-51)Cag>Gag	p.Q17E	RANGAP1_ENST00000356244.3_Missense_Mutation_p.Q17E|RANGAP1_ENST00000407260.4_5'Flank|RANGAP1_ENST00000405486.1_Missense_Mutation_p.Q17E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	17					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGGCCACCTGAGTCTTGGCA	0.557																																						dbGAP											0													102.0	88.0	92.0					22																	41677000		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.49C>G	22.37:g.41677000G>C	ENSP00000401470:p.Gln17Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JJ2	Missense_Mutation	SNP	pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.Q17E	ENST00000455915.2	37	c.49	CCDS14012.1	22	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941321	0.34283	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000452543;ENST00000418067;ENST00000422838	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.44	5.44	0.79542	.	0.421084	0.28182	N	0.016288	T	0.45155	0.1328	L	0.58810	1.83	0.80722	D	1	B	0.17038	0.02	B	0.18263	0.021	T	0.33803	-0.9854	10	0.39692	T	0.17	-27.3846	12.978	0.58547	0.0:0.0:0.7318:0.2682	.	17	P46060	RAGP1_HUMAN	E	17	ENSP00000385866:Q17E;ENSP00000348577:Q17E;ENSP00000401470:Q17E;ENSP00000394787:Q17E	ENSP00000348577:Q17E	Q	-	1	0	RANGAP1	40006946	0.974000	0.33945	1.000000	0.80357	0.975000	0.68041	1.675000	0.37555	2.567000	0.86603	0.556000	0.70494	CAG	RANGAP1	-	NULL	ENSG00000100401		0.557	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RANGAP1	HGNC	protein_coding	OTTHUMT00000320606.1	37	0.00	0	G	NM_002883		41677000	41677000	-1	no_errors	ENST00000356244	ensembl	human	known	69_37n	missense	58	23.68	18	SNP	1.000	C
RELN	5649	genome.wustl.edu	37	7	103322585	103322585	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr7:103322585C>T	ENST00000428762.1	-	11	1426	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	RELN_ENST00000424685.2_Missense_Mutation_p.E423K|RELN_ENST00000343529.5_Missense_Mutation_p.E423K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	423					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCTCAAATTCTTCTGACCAT	0.403																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													171.0	153.0	159.0					7																	103322585		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1267G>A	7.37:g.103322585C>T	ENSP00000392423:p.Glu423Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom	p.E423K	ENST00000428762.1	37	c.1267	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581060	0.86748	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24350	1.86;1.86;1.86	5.73	5.73	0.89815	.	0.049542	0.85682	D	0.000000	T	0.26593	0.0650	N	0.24115	0.695	0.53005	D	0.999962	D;P	0.52996	0.957;0.608	P;B	0.45881	0.496;0.142	T	0.01657	-1.1302	10	0.62326	D	0.03	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	423;423	P78509-2;P78509	.;RELN_HUMAN	K	423	ENSP00000392423:E423K;ENSP00000345694:E423K;ENSP00000388446:E423K	ENSP00000345694:E423K	E	-	1	0	RELN	103109821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.807000	0.75201	2.861000	0.98227	0.655000	0.94253	GAA	RELN	-	NULL	ENSG00000189056		0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	263	0.00	0	C	NM_005045		103322585	103322585	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	missense	166	43.15	126	SNP	1.000	T
RELN	5649	genome.wustl.edu	37	7	103322585	103322585	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr7:103322585C>T	ENST00000428762.1	-	11	1426	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	RELN_ENST00000424685.2_Missense_Mutation_p.E423K|RELN_ENST00000343529.5_Missense_Mutation_p.E423K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	423					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCTCAAATTCTTCTGACCAT	0.403																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													171.0	153.0	159.0					7																	103322585		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1267G>A	7.37:g.103322585C>T	ENSP00000392423:p.Glu423Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom	p.E423K	ENST00000428762.1	37	c.1267	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581060	0.86748	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24350	1.86;1.86;1.86	5.73	5.73	0.89815	.	0.049542	0.85682	D	0.000000	T	0.26593	0.0650	N	0.24115	0.695	0.53005	D	0.999962	D;P	0.52996	0.957;0.608	P;B	0.45881	0.496;0.142	T	0.01657	-1.1302	10	0.62326	D	0.03	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	423;423	P78509-2;P78509	.;RELN_HUMAN	K	423	ENSP00000392423:E423K;ENSP00000345694:E423K;ENSP00000388446:E423K	ENSP00000345694:E423K	E	-	1	0	RELN	103109821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.807000	0.75201	2.861000	0.98227	0.655000	0.94253	GAA	RELN	-	NULL	ENSG00000189056		0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	212	0.00	0	C	NM_005045		103322585	103322585	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	missense	166	43.15	126	SNP	1.000	T
REV1	51455	genome.wustl.edu	37	2	100065947	100065947	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:100065947C>T	ENST00000258428.3	-	4	429	c.201G>A	c.(199-201)ttG>ttA	p.L67L	REV1_ENST00000393445.3_Silent_p.L67L|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	67	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTAGTTTTCTCAATTCCTCAG	0.313								Direct reversal of damage																														dbGAP											0													90.0	92.0	91.0					2																	100065947		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.201G>A	2.37:g.100065947C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.L67	ENST00000258428.3	37	c.201	CCDS2045.1	2																																																																																			REV1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom	ENSG00000135945		0.313	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	114	0.00	0	C	NM_016316		100065947	100065947	-1	no_errors	ENST00000258428	ensembl	human	known	69_37n	silent	108	29.87	46	SNP	1.000	T
REV1	51455	genome.wustl.edu	37	2	100065947	100065947	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:100065947C>T	ENST00000258428.3	-	4	429	c.201G>A	c.(199-201)ttG>ttA	p.L67L	REV1_ENST00000393445.3_Silent_p.L67L|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	67	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTAGTTTTCTCAATTCCTCAG	0.313								Direct reversal of damage																														dbGAP											0													90.0	92.0	91.0					2																	100065947		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.201G>A	2.37:g.100065947C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.L67	ENST00000258428.3	37	c.201	CCDS2045.1	2																																																																																			REV1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom	ENSG00000135945		0.313	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	100	0.00	0	C	NM_016316		100065947	100065947	-1	no_errors	ENST00000258428	ensembl	human	known	69_37n	silent	108	29.87	46	SNP	1.000	T
RFC1	5981	genome.wustl.edu	37	4	39310356	39310356	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:39310356G>C	ENST00000381897.1	-	13	1918	c.1785C>G	c.(1783-1785)ctC>ctG	p.L595L	RFC1_ENST00000349703.2_Silent_p.L595L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	595					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTATGGTCTTGAGCGAGGTTG	0.458																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	dbGAP											0													191.0	199.0	196.0					4																	39310356		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1785C>G	4.37:g.39310356G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Silent	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.L595	ENST00000381897.1	37	c.1785	CCDS56329.1	4																																																																																			RFC1	-	pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.458	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	507	0.00	0	G	NM_002913		39310356	39310356	-1	no_errors	ENST00000381897	ensembl	human	known	69_37n	silent	325	29.35	135	SNP	1.000	C
RFC1	5981	genome.wustl.edu	37	4	39310356	39310356	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:39310356G>C	ENST00000381897.1	-	13	1918	c.1785C>G	c.(1783-1785)ctC>ctG	p.L595L	RFC1_ENST00000349703.2_Silent_p.L595L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	595					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTATGGTCTTGAGCGAGGTTG	0.458																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	dbGAP											0													191.0	199.0	196.0					4																	39310356		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1785C>G	4.37:g.39310356G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Silent	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.L595	ENST00000381897.1	37	c.1785	CCDS56329.1	4																																																																																			RFC1	-	pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.458	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	363	0.00	0	G	NM_002913		39310356	39310356	-1	no_errors	ENST00000381897	ensembl	human	known	69_37n	silent	325	29.35	135	SNP	1.000	C
RNF113A	7737	genome.wustl.edu	37	X	119005192	119005192	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:119005192C>T	ENST00000371442.2	-	1	599	c.385G>A	c.(385-387)Gat>Aat	p.D129N	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	129							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GCTTGTGCATCGCGCTCTTTC	0.522																																						dbGAP											0													276.0	260.0	266.0					X																	119005192		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.385G>A	X.37:g.119005192C>T	ENSP00000360497:p.Asp129Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBR7	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.D129N	ENST00000371442.2	37	c.385	CCDS14589.1	X	.	.	.	.	.	.	.	.	.	.	C	34	5.294444	0.95546	.	.	ENSG00000125352	ENST00000371442	T	0.41758	0.99	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	P	0.56865	0.808	T	0.77525	-0.2555	10	0.72032	D	0.01	-8.1801	15.7553	0.78018	0.0:1.0:0.0:0.0	.	129	O15541	R113A_HUMAN	N	129	ENSP00000360497:D129N	ENSP00000360497:D129N	D	-	1	0	RNF113A	118889220	1.000000	0.71417	0.828000	0.32881	0.968000	0.65278	5.747000	0.68689	2.318000	0.78349	0.600000	0.82982	GAT	RNF113A	-	NULL	ENSG00000125352		0.522	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	HGNC	protein_coding	OTTHUMT00000058071.1	511	0.00	0	C	NM_006978		119005192	119005192	-1	no_errors	ENST00000371442	ensembl	human	known	69_37n	missense	246	35.43	135	SNP	1.000	T
RNF113A	7737	genome.wustl.edu	37	X	119005192	119005192	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:119005192C>T	ENST00000371442.2	-	1	599	c.385G>A	c.(385-387)Gat>Aat	p.D129N	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	129							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GCTTGTGCATCGCGCTCTTTC	0.522																																						dbGAP											0													276.0	260.0	266.0					X																	119005192		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.385G>A	X.37:g.119005192C>T	ENSP00000360497:p.Asp129Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBR7	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.D129N	ENST00000371442.2	37	c.385	CCDS14589.1	X	.	.	.	.	.	.	.	.	.	.	C	34	5.294444	0.95546	.	.	ENSG00000125352	ENST00000371442	T	0.41758	0.99	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	P	0.56865	0.808	T	0.77525	-0.2555	10	0.72032	D	0.01	-8.1801	15.7553	0.78018	0.0:1.0:0.0:0.0	.	129	O15541	R113A_HUMAN	N	129	ENSP00000360497:D129N	ENSP00000360497:D129N	D	-	1	0	RNF113A	118889220	1.000000	0.71417	0.828000	0.32881	0.968000	0.65278	5.747000	0.68689	2.318000	0.78349	0.600000	0.82982	GAT	RNF113A	-	NULL	ENSG00000125352		0.522	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	HGNC	protein_coding	OTTHUMT00000058071.1	224	0.00	0	C	NM_006978		119005192	119005192	-1	no_errors	ENST00000371442	ensembl	human	known	69_37n	missense	246	35.43	135	SNP	1.000	T
RNF20	56254	genome.wustl.edu	37	9	104313984	104313984	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr9:104313984C>T	ENST00000389120.3	+	11	1381	c.1291C>T	c.(1291-1293)Cat>Tat	p.H431Y	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	431					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GGTTAGTCTTCATAAGAAGCT	0.368																																						dbGAP											0													86.0	84.0	85.0					9																	104313984		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1291C>T	9.37:g.104313984C>T	ENSP00000373772:p.His431Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.H431Y	ENST00000389120.3	37	c.1291	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641440	0.67244	.	.	ENSG00000155827	ENST00000389120	T	0.30182	1.54	6.16	6.16	0.99307	.	0.047793	0.85682	D	0.000000	T	0.21307	0.0513	N	0.14661	0.345	0.53688	D	0.999979	P	0.39282	0.666	B	0.35114	0.196	T	0.02868	-1.1100	10	0.23302	T	0.38	-22.6285	20.4549	0.99139	0.0:1.0:0.0:0.0	.	431	Q5VTR2	BRE1A_HUMAN	Y	431	ENSP00000373772:H431Y	ENSP00000373772:H431Y	H	+	1	0	RNF20	103353805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.245000	0.78237	2.937000	0.99478	0.650000	0.86243	CAT	RNF20	-	NULL	ENSG00000155827		0.368	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	156	0.00	0	C	NM_019592		104313984	104313984	+1	no_errors	ENST00000389120	ensembl	human	known	69_37n	missense	138	29.23	57	SNP	1.000	T
RNF20	56254	genome.wustl.edu	37	9	104313984	104313984	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr9:104313984C>T	ENST00000389120.3	+	11	1381	c.1291C>T	c.(1291-1293)Cat>Tat	p.H431Y	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	431					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GGTTAGTCTTCATAAGAAGCT	0.368																																						dbGAP											0													86.0	84.0	85.0					9																	104313984		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1291C>T	9.37:g.104313984C>T	ENSP00000373772:p.His431Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.H431Y	ENST00000389120.3	37	c.1291	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641440	0.67244	.	.	ENSG00000155827	ENST00000389120	T	0.30182	1.54	6.16	6.16	0.99307	.	0.047793	0.85682	D	0.000000	T	0.21307	0.0513	N	0.14661	0.345	0.53688	D	0.999979	P	0.39282	0.666	B	0.35114	0.196	T	0.02868	-1.1100	10	0.23302	T	0.38	-22.6285	20.4549	0.99139	0.0:1.0:0.0:0.0	.	431	Q5VTR2	BRE1A_HUMAN	Y	431	ENSP00000373772:H431Y	ENSP00000373772:H431Y	H	+	1	0	RNF20	103353805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.245000	0.78237	2.937000	0.99478	0.650000	0.86243	CAT	RNF20	-	NULL	ENSG00000155827		0.368	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	121	0.00	0	C	NM_019592		104313984	104313984	+1	no_errors	ENST00000389120	ensembl	human	known	69_37n	missense	138	29.23	57	SNP	1.000	T
RPGRIP1L	23322	genome.wustl.edu	37	16	53639477	53639477	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr16:53639477C>G	ENST00000379925.3	-	26	3801	c.3751G>C	c.(3751-3753)Gag>Cag	p.E1251Q	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.E1171Q|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E1217Q|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E1205Q	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1251					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCCTCACACTCCAGGTCCTGC	0.532																																						dbGAP											0													152.0	115.0	127.0					16																	53639477		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3751G>C	16.37:g.53639477C>G	ENSP00000369257:p.Glu1251Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E1251Q	ENST00000379925.3	37	c.3751	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990911	0.93106	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.74737	-0.87;-0.87	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.86431	0.5931	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.983;0.983;0.983;0.988	D	0.86645	0.1894	10	0.72032	D	0.01	-17.176	20.089	0.97809	0.0:1.0:0.0:0.0	.	1205;1205;1251;1171	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	Q	1251;1171	ENSP00000369257:E1251Q;ENSP00000262135:E1171Q	ENSP00000262135:E1171Q	E	-	1	0	RPGRIP1L	52196978	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.604000	0.67626	2.752000	0.94435	0.557000	0.71058	GAG	RPGRIP1L	-	NULL	ENSG00000103494		0.532	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	171	0.00	0	C	NM_015272		53639477	53639477	-1	no_errors	ENST00000379925	ensembl	human	known	69_37n	missense	45	50.55	46	SNP	1.000	G
SCGB2B2	284402	genome.wustl.edu	37	19	35085143	35085143	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:35085143G>A	ENST00000601241.1	-	3	2283	c.183C>T	c.(181-183)ctC>ctT	p.L61L	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.L61L			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	61						extracellular region (GO:0005576)											GCTGGACATTGAGGAAGGACT	0.502																																						dbGAP											0													123.0	106.0	112.0					19																	35085143		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.183C>T	19.37:g.35085143G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Uteroglobin-like_superfam,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin	p.L61	ENST00000601241.1	37	c.183	CCDS32989.1	19																																																																																			SCGB2B2	-	pfam_Uteroglobin-like_superfam,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin	ENSG00000205209		0.502	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB2B2	HGNC	protein_coding	OTTHUMT00000461457.2	189	0.00	0	G	NM_001025591		35085143	35085143	-1	no_errors	ENST00000379204	ensembl	human	known	69_37n	silent	118	22.37	34	SNP	0.188	A
SCGB2B2	284402	genome.wustl.edu	37	19	35085143	35085143	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:35085143G>A	ENST00000601241.1	-	3	2283	c.183C>T	c.(181-183)ctC>ctT	p.L61L	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.L61L			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	61						extracellular region (GO:0005576)											GCTGGACATTGAGGAAGGACT	0.502																																						dbGAP											0													123.0	106.0	112.0					19																	35085143		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.183C>T	19.37:g.35085143G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Uteroglobin-like_superfam,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin	p.L61	ENST00000601241.1	37	c.183	CCDS32989.1	19																																																																																			SCGB2B2	-	pfam_Uteroglobin-like_superfam,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin	ENSG00000205209		0.502	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB2B2	HGNC	protein_coding	OTTHUMT00000461457.2	198	0.00	0	G	NM_001025591		35085143	35085143	-1	no_errors	ENST00000379204	ensembl	human	known	69_37n	silent	118	22.37	34	SNP	0.188	A
SCN5A	6331	genome.wustl.edu	37	3	38655497	38655497	+	Intron	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr3:38655497C>T	ENST00000333535.4	-	6	761				SCN5A_ENST00000450102.2_Silent_p.L224L|SCN5A_ENST00000425664.1_Silent_p.L224L|SCN5A_ENST00000443581.1_Intron|SCN5A_ENST00000451551.2_Silent_p.L224L|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000455624.2_Silent_p.L224L|SCN5A_ENST00000414099.2_Silent_p.L224L|SCN5A_ENST00000413689.1_Silent_p.L224L|SCN5A_ENST00000449557.2_Intron			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit						AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TTAGAGCTCTCAGGACTCTGA	0.433																																						dbGAP											0													46.0	46.0	46.0					3																	38655497		1905	4120	6025	-	-	-	SO:0001627	intron_variant	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.612-172G>A	3.37:g.38655497C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.L224	ENST00000333535.4	37	c.672	CCDS46796.1	3																																																																																			SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.433	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	31	0.00	0	C	NM_198056		38655497	38655497	-1	no_errors	ENST00000413689	ensembl	human	known	69_37n	silent	14	36.36	8	SNP	1.000	T
SCN5A	6331	genome.wustl.edu	37	3	38655497	38655497	+	Intron	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr3:38655497C>T	ENST00000333535.4	-	6	761				SCN5A_ENST00000450102.2_Silent_p.L224L|SCN5A_ENST00000425664.1_Silent_p.L224L|SCN5A_ENST00000443581.1_Intron|SCN5A_ENST00000451551.2_Silent_p.L224L|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000455624.2_Silent_p.L224L|SCN5A_ENST00000414099.2_Silent_p.L224L|SCN5A_ENST00000413689.1_Silent_p.L224L|SCN5A_ENST00000449557.2_Intron			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit						AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TTAGAGCTCTCAGGACTCTGA	0.433																																						dbGAP											0													46.0	46.0	46.0					3																	38655497		1905	4120	6025	-	-	-	SO:0001627	intron_variant	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.612-172G>A	3.37:g.38655497C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.L224	ENST00000333535.4	37	c.672	CCDS46796.1	3																																																																																			SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.433	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	29	0.00	0	C	NM_198056		38655497	38655497	-1	no_errors	ENST00000413689	ensembl	human	known	69_37n	silent	14	36.36	8	SNP	1.000	T
SFXN2	118980	genome.wustl.edu	37	10	104486423	104486423	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr10:104486423C>T	ENST00000369893.5	+	2	197	c.30C>T	c.(28-30)atC>atT	p.I10I	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	10					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCTTTAACATCGATGCCCCCC	0.537																																						dbGAP											0													117.0	116.0	116.0					10																	104486423		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.30C>T	10.37:g.104486423C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSM6	Silent	SNP	pfam_Mtc,tigrfam_Mtc	p.I10	ENST00000369893.5	37	c.30	CCDS7539.1	10																																																																																			SFXN2	-	tigrfam_Mtc	ENSG00000156398		0.537	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	HGNC	protein_coding	OTTHUMT00000050096.2	145	0.00	0	C	XM_058359		104486423	104486423	+1	no_errors	ENST00000369893	ensembl	human	known	69_37n	silent	79	29.46	33	SNP	0.987	T
SFXN2	118980	genome.wustl.edu	37	10	104486423	104486423	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr10:104486423C>T	ENST00000369893.5	+	2	197	c.30C>T	c.(28-30)atC>atT	p.I10I	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	10					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCTTTAACATCGATGCCCCCC	0.537																																						dbGAP											0													117.0	116.0	116.0					10																	104486423		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.30C>T	10.37:g.104486423C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSM6	Silent	SNP	pfam_Mtc,tigrfam_Mtc	p.I10	ENST00000369893.5	37	c.30	CCDS7539.1	10																																																																																			SFXN2	-	tigrfam_Mtc	ENSG00000156398		0.537	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	HGNC	protein_coding	OTTHUMT00000050096.2	78	0.00	0	C	XM_058359		104486423	104486423	+1	no_errors	ENST00000369893	ensembl	human	known	69_37n	silent	79	29.46	33	SNP	0.987	T
SHROOM3	57619	genome.wustl.edu	37	4	77357221	77357221	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:77357221G>A	ENST00000296043.6	+	1	969	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	6					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGGACCACTGAAGACTTCCA	0.488																																						dbGAP											0													152.0	144.0	147.0					4																	77357221		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.16G>A	4.37:g.77357221G>A	ENSP00000296043:p.Glu6Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E6K	ENST00000296043.6	37	c.16	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657287	0.88154	.	.	ENSG00000138771	ENST00000296043	T	0.22336	1.96	5.35	5.35	0.76521	.	0.932252	0.08953	N	0.869841	T	0.25158	0.0611	L	0.36672	1.1	0.32947	D	0.519267	P	0.40970	0.734	B	0.40329	0.326	T	0.31223	-0.9951	10	0.62326	D	0.03	-26.608	17.7116	0.88323	0.0:0.0:1.0:0.0	.	6	Q8TF72	SHRM3_HUMAN	K	6	ENSP00000296043:E6K	ENSP00000296043:E6K	E	+	1	0	SHROOM3	77576245	1.000000	0.71417	0.114000	0.21550	0.107000	0.19398	4.413000	0.59795	2.890000	0.99128	0.585000	0.79938	GAA	SHROOM3	-	NULL	ENSG00000138771		0.488	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	205	0.00	0	G	NM_020859		77357221	77357221	+1	no_errors	ENST00000296043	ensembl	human	known	69_37n	missense	152	32.14	72	SNP	0.748	A
SHROOM3	57619	genome.wustl.edu	37	4	77357221	77357221	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:77357221G>A	ENST00000296043.6	+	1	969	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	6					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGGACCACTGAAGACTTCCA	0.488																																						dbGAP											0													152.0	144.0	147.0					4																	77357221		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.16G>A	4.37:g.77357221G>A	ENSP00000296043:p.Glu6Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E6K	ENST00000296043.6	37	c.16	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657287	0.88154	.	.	ENSG00000138771	ENST00000296043	T	0.22336	1.96	5.35	5.35	0.76521	.	0.932252	0.08953	N	0.869841	T	0.25158	0.0611	L	0.36672	1.1	0.32947	D	0.519267	P	0.40970	0.734	B	0.40329	0.326	T	0.31223	-0.9951	10	0.62326	D	0.03	-26.608	17.7116	0.88323	0.0:0.0:1.0:0.0	.	6	Q8TF72	SHRM3_HUMAN	K	6	ENSP00000296043:E6K	ENSP00000296043:E6K	E	+	1	0	SHROOM3	77576245	1.000000	0.71417	0.114000	0.21550	0.107000	0.19398	4.413000	0.59795	2.890000	0.99128	0.585000	0.79938	GAA	SHROOM3	-	NULL	ENSG00000138771		0.488	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	172	0.00	0	G	NM_020859		77357221	77357221	+1	no_errors	ENST00000296043	ensembl	human	known	69_37n	missense	152	32.14	72	SNP	0.748	A
SIPA1L1	26037	genome.wustl.edu	37	14	72176230	72176230	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr14:72176230G>C	ENST00000555818.1	+	15	4468	c.4120G>C	c.(4120-4122)Gat>Cat	p.D1374H	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1353H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1353H|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D828H	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1374	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCATGGCAGATCGGACTTT	0.592																																						dbGAP											0													61.0	50.0	54.0					14																	72176230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4120G>C	14.37:g.72176230G>C	ENSP00000450832:p.Asp1374His	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.D1374H	ENST00000555818.1	37	c.4120	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431366	0.62844	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.79	5.79	0.91817	.	0.341423	0.33772	N	0.004575	T	0.65760	0.2722	L	0.36672	1.1	0.80722	D	1	D;P;P;D;D	0.89917	0.989;0.7;0.894;0.983;1.0	P;P;P;P;D	0.80764	0.693;0.455;0.567;0.722;0.994	T	0.62181	-0.6908	10	0.40728	T	0.16	-16.5052	20.04	0.97581	0.0:0.0:1.0:0.0	.	828;1374;828;1353;1374	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	H	1353;1374;1353;828	ENSP00000370630:D1353H;ENSP00000450832:D1374H;ENSP00000351352:D1353H;ENSP00000440682:D828H	ENSP00000351352:D1374H	D	+	1	0	SIPA1L1	71245983	1.000000	0.71417	0.968000	0.41197	0.463000	0.32649	3.912000	0.56386	2.733000	0.93635	0.655000	0.94253	GAT	SIPA1L1	-	NULL	ENSG00000197555		0.592	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	96	0.00	0	G	NM_015556		72176230	72176230	+1	no_errors	ENST00000555818	ensembl	human	known	69_37n	missense	49	33.78	25	SNP	0.999	C
SIPA1L1	26037	genome.wustl.edu	37	14	72176230	72176230	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr14:72176230G>C	ENST00000555818.1	+	15	4468	c.4120G>C	c.(4120-4122)Gat>Cat	p.D1374H	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1353H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1353H|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D828H	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1374	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCATGGCAGATCGGACTTT	0.592																																						dbGAP											0													61.0	50.0	54.0					14																	72176230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4120G>C	14.37:g.72176230G>C	ENSP00000450832:p.Asp1374His	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.D1374H	ENST00000555818.1	37	c.4120	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431366	0.62844	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.79	5.79	0.91817	.	0.341423	0.33772	N	0.004575	T	0.65760	0.2722	L	0.36672	1.1	0.80722	D	1	D;P;P;D;D	0.89917	0.989;0.7;0.894;0.983;1.0	P;P;P;P;D	0.80764	0.693;0.455;0.567;0.722;0.994	T	0.62181	-0.6908	10	0.40728	T	0.16	-16.5052	20.04	0.97581	0.0:0.0:1.0:0.0	.	828;1374;828;1353;1374	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	H	1353;1374;1353;828	ENSP00000370630:D1353H;ENSP00000450832:D1374H;ENSP00000351352:D1353H;ENSP00000440682:D828H	ENSP00000351352:D1374H	D	+	1	0	SIPA1L1	71245983	1.000000	0.71417	0.968000	0.41197	0.463000	0.32649	3.912000	0.56386	2.733000	0.93635	0.655000	0.94253	GAT	SIPA1L1	-	NULL	ENSG00000197555		0.592	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	88	0.00	0	G	NM_015556		72176230	72176230	+1	no_errors	ENST00000555818	ensembl	human	known	69_37n	missense	49	33.78	25	SNP	0.999	C
SLC38A9	153129	genome.wustl.edu	37	5	54923793	54923793	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr5:54923793C>G	ENST00000396865.2	-	15	2037	c.1446G>C	c.(1444-1446)ctG>ctC	p.L482L	SLC38A9_ENST00000416547.2_Silent_p.L358L|SLC38A9_ENST00000318672.3_Silent_p.L482L|SLC38A9_ENST00000515629.1_Silent_p.L419L|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000512595.1_Silent_p.L419L	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	482					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GATTAAGAATCAGCACATGGA	0.373																																						dbGAP											0													89.0	83.0	85.0					5																	54923793		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1446G>C	5.37:g.54923793C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	pfam_AA_transpt_TM	p.L482	ENST00000396865.2	37	c.1446	CCDS3968.1	5																																																																																			SLC38A9	-	pfam_AA_transpt_TM	ENSG00000177058		0.373	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A9	HGNC	protein_coding	OTTHUMT00000253912.2	81	0.00	0	C	NM_173514		54923793	54923793	-1	no_errors	ENST00000318672	ensembl	human	known	69_37n	silent	54	34.15	28	SNP	0.477	G
SLC38A9	153129	genome.wustl.edu	37	5	54923793	54923793	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr5:54923793C>G	ENST00000396865.2	-	15	2037	c.1446G>C	c.(1444-1446)ctG>ctC	p.L482L	SLC38A9_ENST00000416547.2_Silent_p.L358L|SLC38A9_ENST00000318672.3_Silent_p.L482L|SLC38A9_ENST00000515629.1_Silent_p.L419L|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000512595.1_Silent_p.L419L	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	482					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GATTAAGAATCAGCACATGGA	0.373																																						dbGAP											0													89.0	83.0	85.0					5																	54923793		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1446G>C	5.37:g.54923793C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	pfam_AA_transpt_TM	p.L482	ENST00000396865.2	37	c.1446	CCDS3968.1	5																																																																																			SLC38A9	-	pfam_AA_transpt_TM	ENSG00000177058		0.373	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A9	HGNC	protein_coding	OTTHUMT00000253912.2	104	0.00	0	C	NM_173514		54923793	54923793	-1	no_errors	ENST00000318672	ensembl	human	known	69_37n	silent	54	34.15	28	SNP	0.477	G
SMYD5	10322	genome.wustl.edu	37	2	73447268	73447268	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:73447268G>C	ENST00000389501.4	+	3	340	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	99	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCCTCACCCAGAGCTGTGCAC	0.597																																						dbGAP											0													50.0	52.0	51.0					2																	73447268		2032	4180	6212	-	-	-	SO:0001583	missense	0			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.295G>C	2.37:g.73447268G>C	ENSP00000374152:p.Glu99Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5H3|Q13558	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.E99Q	ENST00000389501.4	37	c.295	CCDS33221.2	2	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769822	0.69992	.	.	ENSG00000135632	ENST00000389501;ENST00000443900	T	0.50548	0.74	5.73	5.73	0.89815	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	L	0.56199	1.76	0.58432	D	0.999999	P	0.36909	0.573	B	0.40602	0.334	T	0.45556	-0.9253	10	0.41790	T	0.15	-11.7886	18.8516	0.92232	0.0:0.0:1.0:0.0	.	99	Q6GMV2	SMYD5_HUMAN	Q	99;72	ENSP00000374152:E99Q	ENSP00000374152:E99Q	E	+	1	0	SMYD5	73300776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.168000	0.94781	2.882000	0.98803	0.655000	0.94253	GAG	SMYD5	-	pfam_SET_dom,smart_SET_dom	ENSG00000135632		0.597	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	HGNC	protein_coding	OTTHUMT00000318301.1	77	0.00	0	G	NM_006062		73447268	73447268	+1	no_errors	ENST00000389501	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	1.000	C
SMYD5	10322	genome.wustl.edu	37	2	73447268	73447268	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:73447268G>C	ENST00000389501.4	+	3	340	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	99	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCCTCACCCAGAGCTGTGCAC	0.597																																						dbGAP											0													50.0	52.0	51.0					2																	73447268		2032	4180	6212	-	-	-	SO:0001583	missense	0			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.295G>C	2.37:g.73447268G>C	ENSP00000374152:p.Glu99Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5H3|Q13558	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.E99Q	ENST00000389501.4	37	c.295	CCDS33221.2	2	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769822	0.69992	.	.	ENSG00000135632	ENST00000389501;ENST00000443900	T	0.50548	0.74	5.73	5.73	0.89815	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	L	0.56199	1.76	0.58432	D	0.999999	P	0.36909	0.573	B	0.40602	0.334	T	0.45556	-0.9253	10	0.41790	T	0.15	-11.7886	18.8516	0.92232	0.0:0.0:1.0:0.0	.	99	Q6GMV2	SMYD5_HUMAN	Q	99;72	ENSP00000374152:E99Q	ENSP00000374152:E99Q	E	+	1	0	SMYD5	73300776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.168000	0.94781	2.882000	0.98803	0.655000	0.94253	GAG	SMYD5	-	pfam_SET_dom,smart_SET_dom	ENSG00000135632		0.597	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	HGNC	protein_coding	OTTHUMT00000318301.1	32	0.00	0	G	NM_006062		73447268	73447268	+1	no_errors	ENST00000389501	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	1.000	C
SNHG14	104472715	genome.wustl.edu	37	15	25335104	25335104	+	RNA	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr15:25335104G>A	ENST00000546682.1	+	0	839				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-20_ENST00000384507.1_lincRNA|SNORD116-23_ENST00000384645.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACATTCCTTGGAAAGCTGAAC	0.458																																						dbGAP											0													300.0	257.0	270.0					15																	25335104		876	1991	2867	-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25335104G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-22	-	-	ENSG00000207159		0.458	SNHG14-022	KNOWN	basic	antisense	SNORD116-22	HGNC	processed_transcript	OTTHUMT00000408281.1	374	0.00	0	G			25335104	25335104	+1	no_errors	ENST00000384430	ensembl	human	known	69_37n	rna	302	30.89	135	SNP	0.993	A
SNHG14	104472715	genome.wustl.edu	37	15	25335104	25335104	+	RNA	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr15:25335104G>A	ENST00000546682.1	+	0	839				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-20_ENST00000384507.1_lincRNA|SNORD116-23_ENST00000384645.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACATTCCTTGGAAAGCTGAAC	0.458																																						dbGAP											0													300.0	257.0	270.0					15																	25335104		876	1991	2867	-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25335104G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-22	-	-	ENSG00000207159		0.458	SNHG14-022	KNOWN	basic	antisense	SNORD116-22	HGNC	processed_transcript	OTTHUMT00000408281.1	481	0.00	0	G			25335104	25335104	+1	no_errors	ENST00000384430	ensembl	human	known	69_37n	rna	302	30.89	135	SNP	0.993	A
SNHG14	104472715	genome.wustl.edu	37	15	25514969	25514969	+	RNA	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr15:25514969C>T	ENST00000554726.1	+	0	47				SNORD115-47_ENST00000391226.1_RNA|SNORD115-48_ENST00000364764.1_RNA|SNHG14_ENST00000452731.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GAAATGATGACGTAAAAATTA	0.413																																						dbGAP											0													92.0	81.0	84.0					15																	25514969		876	1991	2867	-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25514969C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000554726.1	37	NULL		15																																																																																			SNORD115-48	-	-	ENSG00000201634		0.413	SNHG14-023	KNOWN	basic	antisense	SNORD115-48	HGNC	processed_transcript	OTTHUMT00000414071.1	123	0.00	0	C			25514969	25514969	+1	no_errors	ENST00000364764	ensembl	human	known	69_37n	rna	103	24.82	34	SNP	0.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25514969	25514969	+	RNA	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr15:25514969C>T	ENST00000554726.1	+	0	47				SNORD115-47_ENST00000391226.1_RNA|SNORD115-48_ENST00000364764.1_RNA|SNHG14_ENST00000452731.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GAAATGATGACGTAAAAATTA	0.413																																						dbGAP											0													92.0	81.0	84.0					15																	25514969		876	1991	2867	-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25514969C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000554726.1	37	NULL		15																																																																																			SNORD115-48	-	-	ENSG00000201634		0.413	SNHG14-023	KNOWN	basic	antisense	SNORD115-48	HGNC	processed_transcript	OTTHUMT00000414071.1	98	0.00	0	C			25514969	25514969	+1	no_errors	ENST00000364764	ensembl	human	known	69_37n	rna	103	24.82	34	SNP	0.000	T
SNRNP200	23020	genome.wustl.edu	37	2	96944592	96944592	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:96944592G>A	ENST00000323853.5	-	37	5355	c.5278C>T	c.(5278-5280)Ctg>Ttg	p.L1760L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1760					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CGGCGGTACAGAAAGGTCCAG	0.522																																						dbGAP											0													154.0	130.0	138.0					2																	96944592		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5278C>T	2.37:g.96944592G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1760	ENST00000323853.5	37	c.5278	CCDS2020.1	2																																																																																			SNRNP200	-	NULL	ENSG00000144028		0.522	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	169	0.00	0	G	NM_014014		96944592	96944592	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	silent	77	28.70	31	SNP	1.000	A
SNRNP200	23020	genome.wustl.edu	37	2	96944592	96944592	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:96944592G>A	ENST00000323853.5	-	37	5355	c.5278C>T	c.(5278-5280)Ctg>Ttg	p.L1760L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1760					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CGGCGGTACAGAAAGGTCCAG	0.522																																						dbGAP											0													154.0	130.0	138.0					2																	96944592		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5278C>T	2.37:g.96944592G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1760	ENST00000323853.5	37	c.5278	CCDS2020.1	2																																																																																			SNRNP200	-	NULL	ENSG00000144028		0.522	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	86	0.00	0	G	NM_014014		96944592	96944592	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	silent	77	28.70	31	SNP	1.000	A
SNW1	22938	genome.wustl.edu	37	14	78198836	78198836	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr14:78198836C>A	ENST00000261531.7	-	9	945	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.D133Y|SNW1_ENST00000555761.1_Missense_Mutation_p.D295Y	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	295	SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.D295N(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACCTTCCGATCAGCAATGTAG	0.368																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											118.0	113.0	115.0					14																	78198836		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.883G>T	14.37:g.78198836C>A	ENSP00000261531:p.Asp295Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.D295Y	ENST00000261531.7	37	c.883	CCDS9867.1	14	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692808	0.88735	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	6.08	5.18	0.71444	SKI-interacting protein SKIP, SNW domain (1);	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88412	0.3022	9	0.87932	D	0	.	15.8101	0.78552	0.0:0.9341:0.0:0.0659	.	295;295	G3V3A4;Q13573	.;SNW1_HUMAN	Y	295;133;295	.	ENSP00000261531:D295Y	D	-	1	0	SNW1	77268589	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	GAT	SNW1	-	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	ENSG00000100603		0.368	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	HGNC	protein_coding	OTTHUMT00000413912.1	208	0.48	1	C	NM_012245		78198836	78198836	-1	no_errors	ENST00000261531	ensembl	human	known	69_37n	missense	130	26.97	48	SNP	1.000	A
SNW1	22938	genome.wustl.edu	37	14	78198836	78198836	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr14:78198836C>A	ENST00000261531.7	-	9	945	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.D133Y|SNW1_ENST00000555761.1_Missense_Mutation_p.D295Y	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	295	SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.D295N(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACCTTCCGATCAGCAATGTAG	0.368																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											118.0	113.0	115.0					14																	78198836		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.883G>T	14.37:g.78198836C>A	ENSP00000261531:p.Asp295Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.D295Y	ENST00000261531.7	37	c.883	CCDS9867.1	14	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692808	0.88735	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	6.08	5.18	0.71444	SKI-interacting protein SKIP, SNW domain (1);	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88412	0.3022	9	0.87932	D	0	.	15.8101	0.78552	0.0:0.9341:0.0:0.0659	.	295;295	G3V3A4;Q13573	.;SNW1_HUMAN	Y	295;133;295	.	ENSP00000261531:D295Y	D	-	1	0	SNW1	77268589	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	GAT	SNW1	-	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	ENSG00000100603		0.368	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	HGNC	protein_coding	OTTHUMT00000413912.1	100	0.00	0	C	NM_012245		78198836	78198836	-1	no_errors	ENST00000261531	ensembl	human	known	69_37n	missense	130	26.97	48	SNP	1.000	A
SORBS2	8470	genome.wustl.edu	37	4	186510869	186510869	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:186510869C>T	ENST00000284776.7	-	20	3714	c.3205G>A	c.(3205-3207)Gat>Aat	p.D1069N	SORBS2_ENST00000437304.2_Missense_Mutation_p.D793N|SORBS2_ENST00000448662.2_Missense_Mutation_p.D630N|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000431808.1_Missense_Mutation_p.D1069N|SORBS2_ENST00000393528.3_Missense_Mutation_p.D635N|SORBS2_ENST00000418609.1_Missense_Mutation_p.D973N|SORBS2_ENST00000355634.5_Missense_Mutation_p.D1169N|SORBS2_ENST00000449407.2_Missense_Mutation_p.D613N|SORBS2_ENST00000319471.9_Missense_Mutation_p.D700N	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1069	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCCATGACATCAATGACATCA	0.438																																					Esophageal Squamous(153;41 2433 9491 36028)	dbGAP											0													252.0	231.0	238.0					4																	186510869		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3205G>A	4.37:g.186510869C>T	ENSP00000284776:p.Asp1069Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.D1069N	ENST00000284776.7	37	c.3205	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513103	0.85389	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.53	5.53	0.82687	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	N	0.12527	0.23	0.80722	D	1	D;D;D;D;D;D;D;D;D;P;D;D	0.89917	1.0;0.999;1.0;0.999;0.998;1.0;0.999;1.0;1.0;0.933;0.998;0.998	D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.954;0.998;0.995;0.991;0.999;0.995;0.999;0.999;0.928;0.991;0.991	T	0.52396	-0.8581	10	0.44086	T	0.13	-23.0423	19.2483	0.93912	0.0:1.0:0.0:0.0	.	635;630;973;461;660;1169;1069;613;793;630;614;635	G3XAI0;C9JKV9;B7Z3X6;B7Z997;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-3;O94875-2	.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.	N	1069;630;1069;973;793;700;613;1169;635	ENSP00000284776:D1069N;ENSP00000409158:D630N;ENSP00000411764:D1069N;ENSP00000397482:D973N;ENSP00000396008:D793N;ENSP00000322182:D700N;ENSP00000397262:D613N;ENSP00000347852:D1169N;ENSP00000377162:D635N	ENSP00000284776:D1069N	D	-	1	0	SORBS2	186747863	1.000000	0.71417	0.978000	0.43139	0.311000	0.27955	7.651000	0.83577	2.882000	0.98803	0.655000	0.94253	GAT	SORBS2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox	ENSG00000154556		0.438	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	382	0.00	0	C	NM_003603		186510869	186510869	-1	no_errors	ENST00000284776	ensembl	human	known	69_37n	missense	117	39.38	76	SNP	1.000	T
SORBS2	8470	genome.wustl.edu	37	4	186510869	186510869	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:186510869C>T	ENST00000284776.7	-	20	3714	c.3205G>A	c.(3205-3207)Gat>Aat	p.D1069N	SORBS2_ENST00000437304.2_Missense_Mutation_p.D793N|SORBS2_ENST00000448662.2_Missense_Mutation_p.D630N|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000431808.1_Missense_Mutation_p.D1069N|SORBS2_ENST00000393528.3_Missense_Mutation_p.D635N|SORBS2_ENST00000418609.1_Missense_Mutation_p.D973N|SORBS2_ENST00000355634.5_Missense_Mutation_p.D1169N|SORBS2_ENST00000449407.2_Missense_Mutation_p.D613N|SORBS2_ENST00000319471.9_Missense_Mutation_p.D700N	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1069	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCCATGACATCAATGACATCA	0.438																																					Esophageal Squamous(153;41 2433 9491 36028)	dbGAP											0													252.0	231.0	238.0					4																	186510869		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3205G>A	4.37:g.186510869C>T	ENSP00000284776:p.Asp1069Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.D1069N	ENST00000284776.7	37	c.3205	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513103	0.85389	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.53	5.53	0.82687	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	N	0.12527	0.23	0.80722	D	1	D;D;D;D;D;D;D;D;D;P;D;D	0.89917	1.0;0.999;1.0;0.999;0.998;1.0;0.999;1.0;1.0;0.933;0.998;0.998	D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.954;0.998;0.995;0.991;0.999;0.995;0.999;0.999;0.928;0.991;0.991	T	0.52396	-0.8581	10	0.44086	T	0.13	-23.0423	19.2483	0.93912	0.0:1.0:0.0:0.0	.	635;630;973;461;660;1169;1069;613;793;630;614;635	G3XAI0;C9JKV9;B7Z3X6;B7Z997;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-3;O94875-2	.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.	N	1069;630;1069;973;793;700;613;1169;635	ENSP00000284776:D1069N;ENSP00000409158:D630N;ENSP00000411764:D1069N;ENSP00000397482:D973N;ENSP00000396008:D793N;ENSP00000322182:D700N;ENSP00000397262:D613N;ENSP00000347852:D1169N;ENSP00000377162:D635N	ENSP00000284776:D1069N	D	-	1	0	SORBS2	186747863	1.000000	0.71417	0.978000	0.43139	0.311000	0.27955	7.651000	0.83577	2.882000	0.98803	0.655000	0.94253	GAT	SORBS2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox	ENSG00000154556		0.438	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	156	0.00	0	C	NM_003603		186510869	186510869	-1	no_errors	ENST00000284776	ensembl	human	known	69_37n	missense	117	39.38	76	SNP	1.000	T
SOS2	6655	genome.wustl.edu	37	14	50623790	50623790	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr14:50623790C>G	ENST00000216373.5	-	12	2258	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.E629Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	662	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCGCCTTTCTCTATTGCCAAT	0.368																																						dbGAP											0													88.0	78.0	81.0					14																	50623790		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1984G>C	14.37:g.50623790C>G	ENSP00000216373:p.Glu662Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E662Q	ENST00000216373.5	37	c.1984	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514515	0.64522	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.27256	1.68;1.68	4.95	4.95	0.65309	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.213578	0.50627	D	0.000118	T	0.32102	0.0818	L	0.58101	1.795	0.44352	D	0.997243	B;B;B	0.33299	0.013;0.407;0.013	B;B;B	0.36418	0.017;0.224;0.028	T	0.11348	-1.0591	10	0.46703	T	0.11	.	18.5643	0.91112	0.0:1.0:0.0:0.0	.	629;692;662	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	Q	662;629	ENSP00000216373:E662Q;ENSP00000445328:E629Q	ENSP00000216373:E662Q	E	-	1	0	SOS2	49693540	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.468000	0.60162	2.441000	0.82636	0.585000	0.79938	GAG	SOS2	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000100485		0.368	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	34	0.00	0	C			50623790	50623790	-1	no_errors	ENST00000216373	ensembl	human	known	69_37n	missense	26	39.53	17	SNP	1.000	G
SOS2	6655	genome.wustl.edu	37	14	50623790	50623790	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr14:50623790C>G	ENST00000216373.5	-	12	2258	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.E629Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	662	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCGCCTTTCTCTATTGCCAAT	0.368																																						dbGAP											0													88.0	78.0	81.0					14																	50623790		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1984G>C	14.37:g.50623790C>G	ENSP00000216373:p.Glu662Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E662Q	ENST00000216373.5	37	c.1984	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514515	0.64522	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.27256	1.68;1.68	4.95	4.95	0.65309	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.213578	0.50627	D	0.000118	T	0.32102	0.0818	L	0.58101	1.795	0.44352	D	0.997243	B;B;B	0.33299	0.013;0.407;0.013	B;B;B	0.36418	0.017;0.224;0.028	T	0.11348	-1.0591	10	0.46703	T	0.11	.	18.5643	0.91112	0.0:1.0:0.0:0.0	.	629;692;662	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	Q	662;629	ENSP00000216373:E662Q;ENSP00000445328:E629Q	ENSP00000216373:E662Q	E	-	1	0	SOS2	49693540	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.468000	0.60162	2.441000	0.82636	0.585000	0.79938	GAG	SOS2	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000100485		0.368	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	44	0.00	0	C			50623790	50623790	-1	no_errors	ENST00000216373	ensembl	human	known	69_37n	missense	26	39.53	17	SNP	1.000	G
SPEN	23013	genome.wustl.edu	37	1	16260889	16260889	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:16260889G>A	ENST00000375759.3	+	11	8358	c.8154G>A	c.(8152-8154)gtG>gtA	p.V2718V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2718	Interaction with RBPSUH. {ECO:0000250}.				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)			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)		TGGGCACAGTGAATGCCGCCC	0.607																																						dbGAP											0													76.0	74.0	74.0					1																	16260889		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.8154G>A	1.37:g.16260889G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.V2718	ENST00000375759.3	37	c.8154	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.607	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	207	0.48	1	G	NM_015001		16260889	16260889	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	silent	109	29.22	45	SNP	0.904	A
SPEN	23013	genome.wustl.edu	37	1	16260889	16260889	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:16260889G>A	ENST00000375759.3	+	11	8358	c.8154G>A	c.(8152-8154)gtG>gtA	p.V2718V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2718	Interaction with RBPSUH. {ECO:0000250}.				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)			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)		TGGGCACAGTGAATGCCGCCC	0.607																																						dbGAP											0													76.0	74.0	74.0					1																	16260889		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.8154G>A	1.37:g.16260889G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.V2718	ENST00000375759.3	37	c.8154	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.607	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	133	0.00	0	G	NM_015001		16260889	16260889	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	silent	109	29.22	45	SNP	0.904	A
SPHKAP	80309	genome.wustl.edu	37	2	228884261	228884261	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr2:228884261C>G	ENST00000392056.3	-	7	1355	c.1309G>C	c.(1309-1311)Gat>Cat	p.D437H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D437H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	437						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACCACTGTATCTTTTGTGGAA	0.473																																						dbGAP											0													108.0	106.0	107.0					2																	228884261		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1309G>C	2.37:g.228884261C>G	ENSP00000375909:p.Asp437His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.D437H	ENST00000392056.3	37	c.1309	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661930	0.47572	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.14516	2.5;2.5	6.03	3.17	0.36434	.	0.247806	0.39544	N	0.001327	T	0.28333	0.0700	M	0.69823	2.125	0.40197	D	0.977473	B;D	0.62365	0.062;0.991	B;P	0.61800	0.023;0.894	T	0.01541	-1.1329	10	0.59425	D	0.04	.	7.2144	0.25951	0.1294:0.6787:0.1246:0.0673	.	437;437	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	H	437	ENSP00000375909:D437H;ENSP00000339886:D437H	ENSP00000339886:D437H	D	-	1	0	SPHKAP	228592505	1.000000	0.71417	0.006000	0.13384	0.623000	0.37688	2.350000	0.44063	0.392000	0.25172	0.655000	0.94253	GAT	SPHKAP	-	NULL	ENSG00000153820		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	177	0.00	0	C	NM_030623		228884261	228884261	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	78	28.44	31	SNP	0.917	G
SPHKAP	80309	genome.wustl.edu	37	2	228884261	228884261	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr2:228884261C>G	ENST00000392056.3	-	7	1355	c.1309G>C	c.(1309-1311)Gat>Cat	p.D437H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D437H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	437						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACCACTGTATCTTTTGTGGAA	0.473																																						dbGAP											0													108.0	106.0	107.0					2																	228884261		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1309G>C	2.37:g.228884261C>G	ENSP00000375909:p.Asp437His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.D437H	ENST00000392056.3	37	c.1309	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661930	0.47572	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.14516	2.5;2.5	6.03	3.17	0.36434	.	0.247806	0.39544	N	0.001327	T	0.28333	0.0700	M	0.69823	2.125	0.40197	D	0.977473	B;D	0.62365	0.062;0.991	B;P	0.61800	0.023;0.894	T	0.01541	-1.1329	10	0.59425	D	0.04	.	7.2144	0.25951	0.1294:0.6787:0.1246:0.0673	.	437;437	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	H	437	ENSP00000375909:D437H;ENSP00000339886:D437H	ENSP00000339886:D437H	D	-	1	0	SPHKAP	228592505	1.000000	0.71417	0.006000	0.13384	0.623000	0.37688	2.350000	0.44063	0.392000	0.25172	0.655000	0.94253	GAT	SPHKAP	-	NULL	ENSG00000153820		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	116	0.00	0	C	NM_030623		228884261	228884261	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	78	28.44	31	SNP	0.917	G
SPTLC2	9517	genome.wustl.edu	37	14	77987865	77987865	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr14:77987865C>G	ENST00000216484.2	-	10	1556	c.1363G>C	c.(1363-1365)Gag>Cag	p.E455Q		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	455				KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5). {ECO:0000305}.	ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	AAGCCCATCTCTTTCAGGCGT	0.423																																						dbGAP											0													134.0	113.0	120.0					14																	77987865		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1363G>C	14.37:g.77987865C>G	ENSP00000216484:p.Glu455Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E455Q	ENST00000216484.2	37	c.1363	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794174	0.31777	.	.	ENSG00000100596	ENST00000216484	D	0.95482	-3.72	5.58	2.55	0.30701	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.210701	0.51477	D	0.000082	D	0.89444	0.6717	N	0.21142	0.635	0.58432	D	0.999994	B	0.19331	0.035	B	0.31390	0.129	T	0.77670	-0.2501	10	0.10111	T	0.7	-6.8335	8.2788	0.31887	0.0:0.7255:0.1269:0.1476	.	455	O15270	SPTC2_HUMAN	Q	455	ENSP00000216484:E455Q	ENSP00000216484:E455Q	E	-	1	0	SPTLC2	77057618	0.985000	0.35326	0.505000	0.27651	0.859000	0.49053	2.683000	0.46943	0.221000	0.20879	0.557000	0.71058	GAG	SPTLC2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000100596		0.423	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1	151	0.00	0	C	NM_004863		77987865	77987865	-1	no_errors	ENST00000216484	ensembl	human	known	69_37n	missense	87	26.67	32	SNP	0.988	G
SPTLC2	9517	genome.wustl.edu	37	14	77987865	77987865	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr14:77987865C>G	ENST00000216484.2	-	10	1556	c.1363G>C	c.(1363-1365)Gag>Cag	p.E455Q		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	455				KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5). {ECO:0000305}.	ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	AAGCCCATCTCTTTCAGGCGT	0.423																																						dbGAP											0													134.0	113.0	120.0					14																	77987865		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1363G>C	14.37:g.77987865C>G	ENSP00000216484:p.Glu455Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E455Q	ENST00000216484.2	37	c.1363	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794174	0.31777	.	.	ENSG00000100596	ENST00000216484	D	0.95482	-3.72	5.58	2.55	0.30701	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.210701	0.51477	D	0.000082	D	0.89444	0.6717	N	0.21142	0.635	0.58432	D	0.999994	B	0.19331	0.035	B	0.31390	0.129	T	0.77670	-0.2501	10	0.10111	T	0.7	-6.8335	8.2788	0.31887	0.0:0.7255:0.1269:0.1476	.	455	O15270	SPTC2_HUMAN	Q	455	ENSP00000216484:E455Q	ENSP00000216484:E455Q	E	-	1	0	SPTLC2	77057618	0.985000	0.35326	0.505000	0.27651	0.859000	0.49053	2.683000	0.46943	0.221000	0.20879	0.557000	0.71058	GAG	SPTLC2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000100596		0.423	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1	96	0.00	0	C	NM_004863		77987865	77987865	-1	no_errors	ENST00000216484	ensembl	human	known	69_37n	missense	87	26.67	32	SNP	0.988	G
SRPR	6734	genome.wustl.edu	37	11	126136689	126136689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr11:126136689G>A	ENST00000332118.6	-	5	809	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	SRPR_ENST00000532259.1_Nonsense_Mutation_p.Q191*|FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000263578.5_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	219					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCATGCTTCTGAATGAACTCC	0.502																																						dbGAP											0													172.0	174.0	173.0					11																	126136689		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.655C>T	11.37:g.126136689G>A	ENSP00000328023:p.Gln219*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Nonsense_Mutation	SNP	pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase	p.Q219*	ENST00000332118.6	37	c.655	CCDS31717.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.109472	0.97291	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	6.07	6.07	0.98685	.	0.216900	0.47852	D	0.000205	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4146	14.99	0.71381	0.0:0.0:0.8229:0.1771	.	.	.	.	X	219;191	.	ENSP00000328023:Q219X	Q	-	1	0	SRPR	125641899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.938000	0.48987	2.884000	0.98904	0.655000	0.94253	CAG	SRPR	-	pfam_Sig_recog_particle_rcpt_asu_N	ENSG00000182934		0.502	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2	246	0.00	0	G	NM_003139		126136689	126136689	-1	no_errors	ENST00000332118	ensembl	human	known	69_37n	nonsense	170	24.11	54	SNP	1.000	A
SRPR	6734	genome.wustl.edu	37	11	126136689	126136689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr11:126136689G>A	ENST00000332118.6	-	5	809	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	SRPR_ENST00000532259.1_Nonsense_Mutation_p.Q191*|FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000263578.5_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	219					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCATGCTTCTGAATGAACTCC	0.502																																						dbGAP											0													172.0	174.0	173.0					11																	126136689		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.655C>T	11.37:g.126136689G>A	ENSP00000328023:p.Gln219*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Nonsense_Mutation	SNP	pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase	p.Q219*	ENST00000332118.6	37	c.655	CCDS31717.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.109472	0.97291	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	6.07	6.07	0.98685	.	0.216900	0.47852	D	0.000205	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4146	14.99	0.71381	0.0:0.0:0.8229:0.1771	.	.	.	.	X	219;191	.	ENSP00000328023:Q219X	Q	-	1	0	SRPR	125641899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.938000	0.48987	2.884000	0.98904	0.655000	0.94253	CAG	SRPR	-	pfam_Sig_recog_particle_rcpt_asu_N	ENSG00000182934		0.502	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2	62	0.00	0	G	NM_003139		126136689	126136689	-1	no_errors	ENST00000332118	ensembl	human	known	69_37n	nonsense	170	24.11	54	SNP	1.000	A
SRPR	6734	genome.wustl.edu	37	11	126137590	126137590	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr11:126137590G>C	ENST00000332118.6	-	3	373	c.219C>G	c.(217-219)atC>atG	p.I73M	SRPR_ENST00000532259.1_Missense_Mutation_p.I45M|FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000530680.1_5'UTR|FOXRED1_ENST00000263578.5_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	73					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCAGTGTCAGGATCTTCTGAA	0.453																																						dbGAP											0													76.0	78.0	78.0					11																	126137590		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.219C>G	11.37:g.126137590G>C	ENSP00000328023:p.Ile73Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase	p.I73M	ENST00000332118.6	37	c.219	CCDS31717.1	11	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287570	0.23478	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.24	1.35	0.21983	Longin-like (1);Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.104266	0.64402	D	0.000004	T	0.68467	0.3004	M	0.72353	2.195	0.52099	D	0.999946	D;P	0.65815	0.995;0.837	D;P	0.70935	0.971;0.667	T	0.64580	-0.6374	9	0.48119	T	0.1	-12.7939	7.7707	0.29006	0.3306:0.0:0.6694:0.0	.	45;73	E9PJS4;P08240	.;SRPR_HUMAN	M	73;45	.	ENSP00000328023:I73M	I	-	3	3	SRPR	125642800	1.000000	0.71417	0.995000	0.50966	0.037000	0.13140	2.852000	0.48310	0.106000	0.17784	0.484000	0.47621	ATC	SRPR	-	pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom	ENSG00000182934		0.453	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2	127	0.00	0	G	NM_003139		126137590	126137590	-1	no_errors	ENST00000332118	ensembl	human	known	69_37n	missense	42	30.00	18	SNP	1.000	C
SRPR	6734	genome.wustl.edu	37	11	126137590	126137590	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr11:126137590G>C	ENST00000332118.6	-	3	373	c.219C>G	c.(217-219)atC>atG	p.I73M	SRPR_ENST00000532259.1_Missense_Mutation_p.I45M|FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000530680.1_5'UTR|FOXRED1_ENST00000263578.5_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	73					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCAGTGTCAGGATCTTCTGAA	0.453																																						dbGAP											0													76.0	78.0	78.0					11																	126137590		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.219C>G	11.37:g.126137590G>C	ENSP00000328023:p.Ile73Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase	p.I73M	ENST00000332118.6	37	c.219	CCDS31717.1	11	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287570	0.23478	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.24	1.35	0.21983	Longin-like (1);Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.104266	0.64402	D	0.000004	T	0.68467	0.3004	M	0.72353	2.195	0.52099	D	0.999946	D;P	0.65815	0.995;0.837	D;P	0.70935	0.971;0.667	T	0.64580	-0.6374	9	0.48119	T	0.1	-12.7939	7.7707	0.29006	0.3306:0.0:0.6694:0.0	.	45;73	E9PJS4;P08240	.;SRPR_HUMAN	M	73;45	.	ENSP00000328023:I73M	I	-	3	3	SRPR	125642800	1.000000	0.71417	0.995000	0.50966	0.037000	0.13140	2.852000	0.48310	0.106000	0.17784	0.484000	0.47621	ATC	SRPR	-	pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom	ENSG00000182934		0.453	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2	35	0.00	0	G	NM_003139		126137590	126137590	-1	no_errors	ENST00000332118	ensembl	human	known	69_37n	missense	42	30.00	18	SNP	1.000	C
SRPR	6734	genome.wustl.edu	37	11	126137924	126137924	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr11:126137924C>T	ENST00000332118.6	-	2	329	c.175G>A	c.(175-177)Gac>Aac	p.D59N	SRPR_ENST00000532259.1_Intron|FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000530680.1_5'UTR|FOXRED1_ENST00000263578.5_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	59					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AACTGGTTGTCCAGTTTATAC	0.443																																						dbGAP											0													171.0	147.0	155.0					11																	126137924		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.175G>A	11.37:g.126137924C>T	ENSP00000328023:p.Asp59Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase	p.D59N	ENST00000332118.6	37	c.175	CCDS31717.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.808395	0.96967	.	.	ENSG00000182934	ENST00000332118	.	.	.	4.3	4.3	0.51218	Longin-like (1);Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	M	0.72624	2.21	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.74542	-0.3631	9	0.25751	T	0.34	-16.0691	16.9344	0.86199	0.0:1.0:0.0:0.0	.	59	P08240	SRPR_HUMAN	N	59	.	ENSP00000328023:D59N	D	-	1	0	SRPR	125643134	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.543000	0.82106	2.216000	0.71823	0.484000	0.47621	GAC	SRPR	-	pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom	ENSG00000182934		0.443	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2	110	0.00	0	C	NM_003139		126137924	126137924	-1	no_errors	ENST00000332118	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	1.000	T
SRPR	6734	genome.wustl.edu	37	11	126137924	126137924	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr11:126137924C>T	ENST00000332118.6	-	2	329	c.175G>A	c.(175-177)Gac>Aac	p.D59N	SRPR_ENST00000532259.1_Intron|FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000530680.1_5'UTR|FOXRED1_ENST00000263578.5_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	59					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AACTGGTTGTCCAGTTTATAC	0.443																																						dbGAP											0													171.0	147.0	155.0					11																	126137924		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.175G>A	11.37:g.126137924C>T	ENSP00000328023:p.Asp59Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase	p.D59N	ENST00000332118.6	37	c.175	CCDS31717.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.808395	0.96967	.	.	ENSG00000182934	ENST00000332118	.	.	.	4.3	4.3	0.51218	Longin-like (1);Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	M	0.72624	2.21	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.74542	-0.3631	9	0.25751	T	0.34	-16.0691	16.9344	0.86199	0.0:1.0:0.0:0.0	.	59	P08240	SRPR_HUMAN	N	59	.	ENSP00000328023:D59N	D	-	1	0	SRPR	125643134	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.543000	0.82106	2.216000	0.71823	0.484000	0.47621	GAC	SRPR	-	pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom	ENSG00000182934		0.443	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2	29	0.00	0	C	NM_003139		126137924	126137924	-1	no_errors	ENST00000332118	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	1.000	T
SRRM2	23524	genome.wustl.edu	37	16	2815760	2815760	+	Missense_Mutation	SNP	G	G	A	rs200616521		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr16:2815760G>A	ENST00000301740.8	+	11	5780	c.5231G>A	c.(5230-5232)cGa>cAa	p.R1744Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1744	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTTCACGCCGACGGCGCTCA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		17317	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													49.0	52.0	51.0					16																	2815760		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5231G>A	16.37:g.2815760G>A	ENSP00000301740:p.Arg1744Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R1744Q	ENST00000301740.8	37	c.5231	CCDS32373.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.95	2.090981	0.36855	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.38077	1.16	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000033	T	0.39145	0.1067	N	0.08118	0	0.09310	N	0.999997	D	0.89917	1.0	D	0.76575	0.988	T	0.39981	-0.9587	10	0.22706	T	0.39	-8.925	16.7967	0.85604	0.0:0.0:1.0:0.0	.	1744	Q9UQ35	SRRM2_HUMAN	Q	1744;1744;996	ENSP00000301740:R1744Q	ENSP00000301740:R1744Q	R	+	2	0	SRRM2	2755761	0.509000	0.26163	0.438000	0.26821	0.948000	0.59901	4.927000	0.63440	2.562000	0.86427	0.650000	0.86243	CGA	SRRM2	-	NULL	ENSG00000167978		0.597	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	127	0.00	0	G			2815760	2815760	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	missense	86	43.14	66	SNP	0.232	A
SRRM2	23524	genome.wustl.edu	37	16	2815760	2815760	+	Missense_Mutation	SNP	G	G	A	rs200616521		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr16:2815760G>A	ENST00000301740.8	+	11	5780	c.5231G>A	c.(5230-5232)cGa>cAa	p.R1744Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1744	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTTCACGCCGACGGCGCTCA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		17317	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													49.0	52.0	51.0					16																	2815760		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5231G>A	16.37:g.2815760G>A	ENSP00000301740:p.Arg1744Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R1744Q	ENST00000301740.8	37	c.5231	CCDS32373.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.95	2.090981	0.36855	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.38077	1.16	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000033	T	0.39145	0.1067	N	0.08118	0	0.09310	N	0.999997	D	0.89917	1.0	D	0.76575	0.988	T	0.39981	-0.9587	10	0.22706	T	0.39	-8.925	16.7967	0.85604	0.0:0.0:1.0:0.0	.	1744	Q9UQ35	SRRM2_HUMAN	Q	1744;1744;996	ENSP00000301740:R1744Q	ENSP00000301740:R1744Q	R	+	2	0	SRRM2	2755761	0.509000	0.26163	0.438000	0.26821	0.948000	0.59901	4.927000	0.63440	2.562000	0.86427	0.650000	0.86243	CGA	SRRM2	-	NULL	ENSG00000167978		0.597	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	106	0.00	0	G			2815760	2815760	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	missense	86	43.14	66	SNP	0.232	A
SUCO	51430	genome.wustl.edu	37	1	172558405	172558405	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:172558405G>C	ENST00000263688.3	+	18	2383	c.2164G>C	c.(2164-2166)Gaa>Caa	p.E722Q	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000367723.4_Missense_Mutation_p.E873Q|SUCO_ENST00000608151.1_Missense_Mutation_p.E874Q	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	722					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											AGTTGAACTTGAACCAAGCCA	0.383																																						dbGAP											0													91.0	91.0	91.0					1																	172558405		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2164G>C	1.37:g.172558405G>C	ENSP00000263688:p.Glu722Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.E874Q	ENST00000263688.3	37	c.2620	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900721	0.72754	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.39	5.39	0.77823	.	0.098603	0.64402	D	0.000002	T	0.73760	0.3628	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.995;0.96;0.96	T	0.73046	-0.4106	9	0.42905	T	0.14	-17.4596	17.705	0.88306	0.0:0.0:1.0:0.0	.	722;874;722	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	Q	874;722	.	ENSP00000263688:E722Q	E	+	1	0	C1orf9	170825028	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.778000	0.75043	2.517000	0.84864	0.655000	0.94253	GAA	SUCO	-	NULL	ENSG00000094975		0.383	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	244	0.00	0	G	NM_016227		172558405	172558405	+1	no_errors	ENST00000367723	ensembl	human	known	69_37n	missense	206	31.33	94	SNP	1.000	C
SUCO	51430	genome.wustl.edu	37	1	172558405	172558405	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:172558405G>C	ENST00000263688.3	+	18	2383	c.2164G>C	c.(2164-2166)Gaa>Caa	p.E722Q	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000367723.4_Missense_Mutation_p.E873Q|SUCO_ENST00000608151.1_Missense_Mutation_p.E874Q	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	722					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											AGTTGAACTTGAACCAAGCCA	0.383																																						dbGAP											0													91.0	91.0	91.0					1																	172558405		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2164G>C	1.37:g.172558405G>C	ENSP00000263688:p.Glu722Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.E874Q	ENST00000263688.3	37	c.2620	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900721	0.72754	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.39	5.39	0.77823	.	0.098603	0.64402	D	0.000002	T	0.73760	0.3628	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.995;0.96;0.96	T	0.73046	-0.4106	9	0.42905	T	0.14	-17.4596	17.705	0.88306	0.0:0.0:1.0:0.0	.	722;874;722	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	Q	874;722	.	ENSP00000263688:E722Q	E	+	1	0	C1orf9	170825028	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.778000	0.75043	2.517000	0.84864	0.655000	0.94253	GAA	SUCO	-	NULL	ENSG00000094975		0.383	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	203	0.00	0	G	NM_016227		172558405	172558405	+1	no_errors	ENST00000367723	ensembl	human	known	69_37n	missense	206	31.33	94	SNP	1.000	C
SYNE1	23345	genome.wustl.edu	37	6	152642474	152642474	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr6:152642474C>G	ENST00000367255.5	-	84	16736	c.16135G>C	c.(16135-16137)Gaa>Caa	p.E5379Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.E5308Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E5308Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E5379Q|SYNE1_ENST00000356820.4_5'Flank|SYNE1_ENST00000341594.5_Missense_Mutation_p.E5052Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5379					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTGTTCTTCTGCCATTTTT	0.398										HNSCC(10;0.0054)																												dbGAP											0													110.0	104.0	106.0					6																	152642474		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16135G>C	6.37:g.152642474C>G	ENSP00000356224:p.Glu5379Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E5379Q	ENST00000367255.5	37	c.16135	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286164	0.59867	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.73789	0.13;0.15;0.03;0.15;-0.78	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000018	D	0.82917	0.5141	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;P;P;D	0.72338	0.977;0.846;0.846;0.957	T	0.81516	-0.0897	10	0.40728	T	0.16	.	19.1221	0.93367	0.0:1.0:0.0:0.0	.	5379;5379;5379;5308	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	5379;5308;5379;5308;5052	ENSP00000356224:E5379Q;ENSP00000396024:E5308Q;ENSP00000265368:E5379Q;ENSP00000390975:E5308Q;ENSP00000341887:E5052Q	ENSP00000265368:E5379Q	E	-	1	0	SYNE1	152684167	1.000000	0.71417	0.974000	0.42286	0.555000	0.35460	7.231000	0.78106	2.510000	0.84645	0.655000	0.94253	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	75	0.00	0	C	NM_182961		152642474	152642474	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	54	29.87	23	SNP	1.000	G
SYNE1	23345	genome.wustl.edu	37	6	152642474	152642474	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr6:152642474C>G	ENST00000367255.5	-	84	16736	c.16135G>C	c.(16135-16137)Gaa>Caa	p.E5379Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.E5308Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E5308Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E5379Q|SYNE1_ENST00000356820.4_5'Flank|SYNE1_ENST00000341594.5_Missense_Mutation_p.E5052Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5379					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTGTTCTTCTGCCATTTTT	0.398										HNSCC(10;0.0054)																												dbGAP											0													110.0	104.0	106.0					6																	152642474		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16135G>C	6.37:g.152642474C>G	ENSP00000356224:p.Glu5379Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E5379Q	ENST00000367255.5	37	c.16135	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286164	0.59867	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.73789	0.13;0.15;0.03;0.15;-0.78	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000018	D	0.82917	0.5141	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;P;P;D	0.72338	0.977;0.846;0.846;0.957	T	0.81516	-0.0897	10	0.40728	T	0.16	.	19.1221	0.93367	0.0:1.0:0.0:0.0	.	5379;5379;5379;5308	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	5379;5308;5379;5308;5052	ENSP00000356224:E5379Q;ENSP00000396024:E5308Q;ENSP00000265368:E5379Q;ENSP00000390975:E5308Q;ENSP00000341887:E5052Q	ENSP00000265368:E5379Q	E	-	1	0	SYNE1	152684167	1.000000	0.71417	0.974000	0.42286	0.555000	0.35460	7.231000	0.78106	2.510000	0.84645	0.655000	0.94253	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	42	0.00	0	C	NM_182961		152642474	152642474	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	54	29.87	23	SNP	1.000	G
TAF1	6872	genome.wustl.edu	37	X	70683834	70683834	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:70683834G>A	ENST00000373790.4	+	38	5608	c.5557G>A	c.(5557-5559)Gag>Aag	p.E1853K	TAF1_ENST00000276072.3_Missense_Mutation_p.E1874K|TAF1_ENST00000461764.1_Intron|TAF1_ENST00000449580.1_Missense_Mutation_p.E1887K|TAF1_ENST00000423759.1_Missense_Mutation_p.E1876K	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1853	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTCAGAGGACGAGGAGGACAG	0.562																																						dbGAP											0													158.0	101.0	120.0					X																	70683834		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5557G>A	X.37:g.70683834G>A	ENSP00000362895:p.Glu1853Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E1887K	ENST00000373790.4	37	c.5659	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	g	16.74	3.205814	0.58234	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.12465	2.74;2.68;2.8;2.74	4.88	3.11	0.35812	.	0.049643	0.85682	N	0.000000	T	0.10852	0.0265	L	0.38175	1.15	0.48830	D	0.999712	B;B;B	0.27951	0.195;0.011;0.019	B;B;B	0.20184	0.028;0.007;0.016	T	0.08953	-1.0697	10	0.56958	D	0.05	.	10.4528	0.44533	0.1627:0.0:0.8373:0.0	.	1887;1853;1874	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	K	1853;1887;1876;1874	ENSP00000362895:E1853K;ENSP00000389000:E1887K;ENSP00000406549:E1876K;ENSP00000276072:E1874K	ENSP00000276072:E1874K	E	+	1	0	TAF1	70600559	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	7.180000	0.77674	0.478000	0.27488	0.287000	0.19450	GAG	TAF1	-	pirsf_TAF1_animal	ENSG00000147133		0.562	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	66	0.00	0	G	NM_004606		70683834	70683834	+1	no_errors	ENST00000449580	ensembl	human	known	69_37n	missense	40	25.93	14	SNP	1.000	A
TAF1	6872	genome.wustl.edu	37	X	70683834	70683834	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:70683834G>A	ENST00000373790.4	+	38	5608	c.5557G>A	c.(5557-5559)Gag>Aag	p.E1853K	TAF1_ENST00000276072.3_Missense_Mutation_p.E1874K|TAF1_ENST00000461764.1_Intron|TAF1_ENST00000449580.1_Missense_Mutation_p.E1887K|TAF1_ENST00000423759.1_Missense_Mutation_p.E1876K	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1853	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTCAGAGGACGAGGAGGACAG	0.562																																						dbGAP											0													158.0	101.0	120.0					X																	70683834		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5557G>A	X.37:g.70683834G>A	ENSP00000362895:p.Glu1853Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E1887K	ENST00000373790.4	37	c.5659	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	g	16.74	3.205814	0.58234	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.12465	2.74;2.68;2.8;2.74	4.88	3.11	0.35812	.	0.049643	0.85682	N	0.000000	T	0.10852	0.0265	L	0.38175	1.15	0.48830	D	0.999712	B;B;B	0.27951	0.195;0.011;0.019	B;B;B	0.20184	0.028;0.007;0.016	T	0.08953	-1.0697	10	0.56958	D	0.05	.	10.4528	0.44533	0.1627:0.0:0.8373:0.0	.	1887;1853;1874	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	K	1853;1887;1876;1874	ENSP00000362895:E1853K;ENSP00000389000:E1887K;ENSP00000406549:E1876K;ENSP00000276072:E1874K	ENSP00000276072:E1874K	E	+	1	0	TAF1	70600559	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	7.180000	0.77674	0.478000	0.27488	0.287000	0.19450	GAG	TAF1	-	pirsf_TAF1_animal	ENSG00000147133		0.562	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	33	0.00	0	G	NM_004606		70683834	70683834	+1	no_errors	ENST00000449580	ensembl	human	known	69_37n	missense	40	25.93	14	SNP	1.000	A
TAX1BP1	8887	genome.wustl.edu	37	7	27839637	27839637	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr7:27839637G>A	ENST00000396319.2	+	13	1780	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	TAX1BP1_ENST00000265393.6_Silent_p.L564L|TAX1BP1_ENST00000433216.2_Silent_p.L407L|TAX1BP1_ENST00000409980.1_Silent_p.L564L|TAX1BP1_ENST00000543117.1_Silent_p.L564L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	564					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AAATGGAGCTGAAATGGAAAG	0.294																																						dbGAP											0													90.0	87.0	88.0					7																	27839637		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1692G>A	7.37:g.27839637G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	pfam_CoCoA	p.L564	ENST00000396319.2	37	c.1692	CCDS5415.1	7																																																																																			TAX1BP1	-	NULL	ENSG00000106052		0.294	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAX1BP1	HGNC	protein_coding	OTTHUMT00000214142.1	98	0.00	0	G	NM_006024		27839637	27839637	+1	no_errors	ENST00000396319	ensembl	human	known	69_37n	silent	63	29.21	26	SNP	1.000	A
TAX1BP1	8887	genome.wustl.edu	37	7	27839637	27839637	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr7:27839637G>A	ENST00000396319.2	+	13	1780	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	TAX1BP1_ENST00000265393.6_Silent_p.L564L|TAX1BP1_ENST00000433216.2_Silent_p.L407L|TAX1BP1_ENST00000409980.1_Silent_p.L564L|TAX1BP1_ENST00000543117.1_Silent_p.L564L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	564					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AAATGGAGCTGAAATGGAAAG	0.294																																						dbGAP											0													90.0	87.0	88.0					7																	27839637		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1692G>A	7.37:g.27839637G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	pfam_CoCoA	p.L564	ENST00000396319.2	37	c.1692	CCDS5415.1	7																																																																																			TAX1BP1	-	NULL	ENSG00000106052		0.294	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAX1BP1	HGNC	protein_coding	OTTHUMT00000214142.1	64	0.00	0	G	NM_006024		27839637	27839637	+1	no_errors	ENST00000396319	ensembl	human	known	69_37n	silent	63	29.21	26	SNP	1.000	A
TBC1D14	57533	genome.wustl.edu	37	4	7026815	7026815	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:7026815C>T	ENST00000409757.4	+	13	1966	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	TBC1D14_ENST00000410031.1_Silent_p.F386F|TBC1D14_ENST00000446947.2_Silent_p.F261F|TBC1D14_ENST00000448507.1_Silent_p.F614F|TBC1D14_ENST00000451522.2_Silent_p.F334F	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	614					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GGGAAGAGTTCCTGTTCCGCA	0.552																																						dbGAP											0													165.0	144.0	151.0					4																	7026815		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1842C>T	4.37:g.7026815C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F614	ENST00000409757.4	37	c.1842	CCDS3394.2	4																																																																																			TBC1D14	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000132405		0.552	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D14	HGNC	protein_coding	OTTHUMT00000206981.3	246	0.00	0	C	NM_020773		7026815	7026815	+1	no_errors	ENST00000409757	ensembl	human	known	69_37n	silent	238	31.41	109	SNP	0.914	T
TBC1D14	57533	genome.wustl.edu	37	4	7026815	7026815	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:7026815C>T	ENST00000409757.4	+	13	1966	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	TBC1D14_ENST00000410031.1_Silent_p.F386F|TBC1D14_ENST00000446947.2_Silent_p.F261F|TBC1D14_ENST00000448507.1_Silent_p.F614F|TBC1D14_ENST00000451522.2_Silent_p.F334F	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	614					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GGGAAGAGTTCCTGTTCCGCA	0.552																																						dbGAP											0													165.0	144.0	151.0					4																	7026815		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1842C>T	4.37:g.7026815C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F614	ENST00000409757.4	37	c.1842	CCDS3394.2	4																																																																																			TBC1D14	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000132405		0.552	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D14	HGNC	protein_coding	OTTHUMT00000206981.3	292	0.00	0	C	NM_020773		7026815	7026815	+1	no_errors	ENST00000409757	ensembl	human	known	69_37n	silent	238	31.41	109	SNP	0.914	T
TEX2	55852	genome.wustl.edu	37	17	62272330	62272330	+	Missense_Mutation	SNP	C	C	G	rs534574993		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:62272330C>G	ENST00000583097.1	-	3	1942	c.1770G>C	c.(1768-1770)agG>agC	p.R590S	TEX2_ENST00000258991.3_Missense_Mutation_p.R590S|TEX2_ENST00000584379.1_Missense_Mutation_p.R590S			Q8IWB9	TEX2_HUMAN	testis expressed 2	590					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGCTGGCCCTCCTGGATATAT	0.453																																						dbGAP											0													159.0	141.0	147.0					17																	62272330		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1770G>C	17.37:g.62272330C>G	ENSP00000462665:p.Arg590Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	pfam_DUF2404	p.R590S	ENST00000583097.1	37	c.1770		17	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379945	0.24944	.	.	ENSG00000136478	ENST00000258991	T	0.56103	0.48	6.07	2.78	0.32641	Pleckstrin homology domain (1);	0.045861	0.85682	D	0.000000	T	0.66790	0.2825	M	0.80847	2.515	0.51233	D	0.999917	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.972	T	0.66372	-0.5940	10	0.87932	D	0	-23.5458	3.3056	0.06998	0.0:0.4096:0.2038:0.3865	.	590;590	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	S	590	ENSP00000258991:R590S	ENSP00000258991:R590S	R	-	3	2	TEX2	59626062	0.977000	0.34250	1.000000	0.80357	0.782000	0.44232	0.105000	0.15333	0.914000	0.36822	-0.137000	0.14449	AGG	TEX2	-	NULL	ENSG00000136478		0.453	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	198	0.00	0	C	NM_018469		62272330	62272330	-1	no_errors	ENST00000258991	ensembl	human	known	69_37n	missense	266	13.07	40	SNP	0.999	G
TEX2	55852	genome.wustl.edu	37	17	62272330	62272330	+	Missense_Mutation	SNP	C	C	G	rs534574993		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:62272330C>G	ENST00000583097.1	-	3	1942	c.1770G>C	c.(1768-1770)agG>agC	p.R590S	TEX2_ENST00000258991.3_Missense_Mutation_p.R590S|TEX2_ENST00000584379.1_Missense_Mutation_p.R590S			Q8IWB9	TEX2_HUMAN	testis expressed 2	590					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGCTGGCCCTCCTGGATATAT	0.453																																						dbGAP											0													159.0	141.0	147.0					17																	62272330		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1770G>C	17.37:g.62272330C>G	ENSP00000462665:p.Arg590Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	pfam_DUF2404	p.R590S	ENST00000583097.1	37	c.1770		17	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379945	0.24944	.	.	ENSG00000136478	ENST00000258991	T	0.56103	0.48	6.07	2.78	0.32641	Pleckstrin homology domain (1);	0.045861	0.85682	D	0.000000	T	0.66790	0.2825	M	0.80847	2.515	0.51233	D	0.999917	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.972	T	0.66372	-0.5940	10	0.87932	D	0	-23.5458	3.3056	0.06998	0.0:0.4096:0.2038:0.3865	.	590;590	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	S	590	ENSP00000258991:R590S	ENSP00000258991:R590S	R	-	3	2	TEX2	59626062	0.977000	0.34250	1.000000	0.80357	0.782000	0.44232	0.105000	0.15333	0.914000	0.36822	-0.137000	0.14449	AGG	TEX2	-	NULL	ENSG00000136478		0.453	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	93	0.00	0	C	NM_018469		62272330	62272330	-1	no_errors	ENST00000258991	ensembl	human	known	69_37n	missense	266	13.07	40	SNP	0.999	G
TIMM50	92609	genome.wustl.edu	37	19	39971368	39971368	+	5'Flank	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:39971368G>C	ENST00000607714.1	+	0	0				TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000314349.4_Missense_Mutation_p.D62H|TIMM50_ENST00000599794.1_5'Flank			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAATCCGCCCGATGCCTTTGG	0.667																																						dbGAP											0													38.0	44.0	42.0					19																	39971368		2202	4300	6502	-	-	-	SO:0001631	upstream_gene_variant	0			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8			19.37:g.39971368G>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	p.D62H	ENST00000607714.1	37	c.184		19	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625057	0.28889	.	.	ENSG00000105197	ENST00000314349	.	.	.	3.89	-1.98	0.07480	.	2.954380	0.01810	N	0.033405	T	0.13372	0.0324	N	0.08118	0	0.09310	N	0.999996	B	0.33448	0.412	B	0.32864	0.154	T	0.04855	-1.0922	8	.	.	.	2.708	0.554	0.00668	0.2912:0.178:0.3494:0.1813	.	62	Q3ZCQ8-2	.	H	62	.	.	D	+	1	0	TIMM50	44663208	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.017000	0.12590	-0.221000	0.09973	0.462000	0.41574	GAT	TIMM50	-	NULL	ENSG00000105197		0.667	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	TIMM50	HGNC	protein_coding	OTTHUMT00000470728.1	57	0.00	0	G	NM_001001563		39971368	39971368	+1	no_errors	ENST00000314349	ensembl	human	known	69_37n	missense	23	30.30	10	SNP	0.000	C
TIMM50	92609	genome.wustl.edu	37	19	39971368	39971368	+	5'Flank	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:39971368G>C	ENST00000607714.1	+	0	0				TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000314349.4_Missense_Mutation_p.D62H|TIMM50_ENST00000599794.1_5'Flank			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAATCCGCCCGATGCCTTTGG	0.667																																						dbGAP											0													38.0	44.0	42.0					19																	39971368		2202	4300	6502	-	-	-	SO:0001631	upstream_gene_variant	0			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8			19.37:g.39971368G>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	p.D62H	ENST00000607714.1	37	c.184		19	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625057	0.28889	.	.	ENSG00000105197	ENST00000314349	.	.	.	3.89	-1.98	0.07480	.	2.954380	0.01810	N	0.033405	T	0.13372	0.0324	N	0.08118	0	0.09310	N	0.999996	B	0.33448	0.412	B	0.32864	0.154	T	0.04855	-1.0922	8	.	.	.	2.708	0.554	0.00668	0.2912:0.178:0.3494:0.1813	.	62	Q3ZCQ8-2	.	H	62	.	.	D	+	1	0	TIMM50	44663208	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.017000	0.12590	-0.221000	0.09973	0.462000	0.41574	GAT	TIMM50	-	NULL	ENSG00000105197		0.667	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	TIMM50	HGNC	protein_coding	OTTHUMT00000470728.1	32	0.00	0	G	NM_001001563		39971368	39971368	+1	no_errors	ENST00000314349	ensembl	human	known	69_37n	missense	23	30.30	10	SNP	0.000	C
TMEM252	169693	genome.wustl.edu	37	9	71155566	71155566	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr9:71155566C>T	ENST00000377311.3	-	1	217	c.165G>A	c.(163-165)ctG>ctA	p.L55L	RP11-274B18.2_ENST00000432148.1_lincRNA|RP11-274B18.4_ENST00000413269.3_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	55						integral component of membrane (GO:0016021)											AAATTCCACTCAGAAGGATCA	0.557																																						dbGAP											0													67.0	60.0	62.0					9																	71155566		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.165G>A	9.37:g.71155566C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L55	ENST00000377311.3	37	c.165	CCDS35040.1	9																																																																																			TMEM252	-	NULL	ENSG00000181778		0.557	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM252	HGNC	protein_coding	OTTHUMT00000052551.1	92	0.00	0	C	NM_153237		71155566	71155566	-1	no_errors	ENST00000377311	ensembl	human	known	69_37n	silent	76	21.65	21	SNP	1.000	T
TMEM252	169693	genome.wustl.edu	37	9	71155566	71155566	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr9:71155566C>T	ENST00000377311.3	-	1	217	c.165G>A	c.(163-165)ctG>ctA	p.L55L	RP11-274B18.2_ENST00000432148.1_lincRNA|RP11-274B18.4_ENST00000413269.3_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	55						integral component of membrane (GO:0016021)											AAATTCCACTCAGAAGGATCA	0.557																																						dbGAP											0													67.0	60.0	62.0					9																	71155566		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.165G>A	9.37:g.71155566C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L55	ENST00000377311.3	37	c.165	CCDS35040.1	9																																																																																			TMEM252	-	NULL	ENSG00000181778		0.557	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM252	HGNC	protein_coding	OTTHUMT00000052551.1	110	0.00	0	C	NM_153237		71155566	71155566	-1	no_errors	ENST00000377311	ensembl	human	known	69_37n	silent	76	21.65	21	SNP	1.000	T
TMEM59L	25789	genome.wustl.edu	37	19	18731260	18731260	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:18731260G>A	ENST00000600490.1	+	9	1128	c.943G>A	c.(943-945)Gat>Aat	p.D315N	TMEM59L_ENST00000262817.3_Missense_Mutation_p.D315N			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	315						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GATGGAGCCCGATTGGCCCCT	0.657																																						dbGAP											0													75.0	69.0	71.0					19																	18731260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.943G>A	19.37:g.18731260G>A	ENSP00000470879:p.Asp315Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Uncharacterised_TMEM59	p.D315N	ENST00000600490.1	37	c.943	CCDS12383.1	19	.	.	.	.	.	.	.	.	.	.	G	6.794	0.515435	0.12944	.	.	ENSG00000105696	ENST00000262817	T	0.47869	0.83	3.86	2.77	0.32553	.	0.533495	0.21231	N	0.077961	T	0.26011	0.0634	N	0.14661	0.345	0.25957	N	0.982677	B	0.13594	0.008	B	0.04013	0.001	T	0.14783	-1.0460	10	0.19147	T	0.46	-12.4081	8.3788	0.32459	0.1202:0.0:0.8798:0.0	.	315	Q9UK28	TM59L_HUMAN	N	315	ENSP00000262817:D315N	ENSP00000262817:D315N	D	+	1	0	TMEM59L	18592260	0.287000	0.24315	0.349000	0.25694	0.054000	0.15201	1.007000	0.29860	0.872000	0.35775	0.561000	0.74099	GAT	TMEM59L	-	NULL	ENSG00000105696		0.657	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	TMEM59L	HGNC	protein_coding	OTTHUMT00000465143.2	43	0.00	0	G			18731260	18731260	+1	no_errors	ENST00000262817	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	0.524	A
TMEM59L	25789	genome.wustl.edu	37	19	18731260	18731260	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:18731260G>A	ENST00000600490.1	+	9	1128	c.943G>A	c.(943-945)Gat>Aat	p.D315N	TMEM59L_ENST00000262817.3_Missense_Mutation_p.D315N			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	315						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GATGGAGCCCGATTGGCCCCT	0.657																																						dbGAP											0													75.0	69.0	71.0					19																	18731260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.943G>A	19.37:g.18731260G>A	ENSP00000470879:p.Asp315Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Uncharacterised_TMEM59	p.D315N	ENST00000600490.1	37	c.943	CCDS12383.1	19	.	.	.	.	.	.	.	.	.	.	G	6.794	0.515435	0.12944	.	.	ENSG00000105696	ENST00000262817	T	0.47869	0.83	3.86	2.77	0.32553	.	0.533495	0.21231	N	0.077961	T	0.26011	0.0634	N	0.14661	0.345	0.25957	N	0.982677	B	0.13594	0.008	B	0.04013	0.001	T	0.14783	-1.0460	10	0.19147	T	0.46	-12.4081	8.3788	0.32459	0.1202:0.0:0.8798:0.0	.	315	Q9UK28	TM59L_HUMAN	N	315	ENSP00000262817:D315N	ENSP00000262817:D315N	D	+	1	0	TMEM59L	18592260	0.287000	0.24315	0.349000	0.25694	0.054000	0.15201	1.007000	0.29860	0.872000	0.35775	0.561000	0.74099	GAT	TMEM59L	-	NULL	ENSG00000105696		0.657	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	TMEM59L	HGNC	protein_coding	OTTHUMT00000465143.2	18	0.00	0	G			18731260	18731260	+1	no_errors	ENST00000262817	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	0.524	A
TNNC2	7125	genome.wustl.edu	37	20	44452972	44452972	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr20:44452972C>G	ENST00000372555.3	-	4	365	c.273G>C	c.(271-273)aaG>aaC	p.K91N	TNNC2_ENST00000372557.1_Missense_Mutation_p.K76N	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	91	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CCTCCTCGCTCTTCCCTTTCG	0.657																																						dbGAP											0													71.0	65.0	67.0					20																	44452972		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.273G>C	20.37:g.44452972C>G	ENSP00000361636:p.Lys91Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FH92	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K91N	ENST00000372555.3	37	c.273	CCDS13375.1	20	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741324	0.69304	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.63255	-0.03;-0.03	4.48	4.48	0.54585	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	N	0.26042	0.785	0.80722	D	1	D	0.53619	0.961	P	0.45946	0.498	T	0.56986	-0.7888	10	0.87932	D	0	-49.4062	9.638	0.39822	0.0:0.9035:0.0:0.0965	.	91	P02585	TNNC2_HUMAN	N	76;91	ENSP00000361638:K76N;ENSP00000361636:K91N	ENSP00000361636:K91N	K	-	3	2	TNNC2	43886379	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.660000	0.37397	2.324000	0.78689	0.544000	0.68410	AAG	TNNC2	-	pfscan_EF_HAND_2	ENSG00000101470		0.657	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC2	HGNC	protein_coding	OTTHUMT00000079524.3	132	0.00	0	C	NM_003279		44452972	44452972	-1	no_errors	ENST00000372555	ensembl	human	known	69_37n	missense	77	34.19	40	SNP	1.000	G
TNNC2	7125	genome.wustl.edu	37	20	44452972	44452972	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr20:44452972C>G	ENST00000372555.3	-	4	365	c.273G>C	c.(271-273)aaG>aaC	p.K91N	TNNC2_ENST00000372557.1_Missense_Mutation_p.K76N	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	91	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CCTCCTCGCTCTTCCCTTTCG	0.657																																						dbGAP											0													71.0	65.0	67.0					20																	44452972		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.273G>C	20.37:g.44452972C>G	ENSP00000361636:p.Lys91Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FH92	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K91N	ENST00000372555.3	37	c.273	CCDS13375.1	20	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741324	0.69304	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.63255	-0.03;-0.03	4.48	4.48	0.54585	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	N	0.26042	0.785	0.80722	D	1	D	0.53619	0.961	P	0.45946	0.498	T	0.56986	-0.7888	10	0.87932	D	0	-49.4062	9.638	0.39822	0.0:0.9035:0.0:0.0965	.	91	P02585	TNNC2_HUMAN	N	76;91	ENSP00000361638:K76N;ENSP00000361636:K91N	ENSP00000361636:K91N	K	-	3	2	TNNC2	43886379	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.660000	0.37397	2.324000	0.78689	0.544000	0.68410	AAG	TNNC2	-	pfscan_EF_HAND_2	ENSG00000101470		0.657	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC2	HGNC	protein_coding	OTTHUMT00000079524.3	71	0.00	0	C	NM_003279		44452972	44452972	-1	no_errors	ENST00000372555	ensembl	human	known	69_37n	missense	77	34.19	40	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7577509	7577509	+	Missense_Mutation	SNP	C	C	G	rs121912652		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:7577509C>G	ENST00000269305.4	-	7	961	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	TP53_ENST00000445888.2_Missense_Mutation_p.E258Q|TP53_ENST00000455263.2_Missense_Mutation_p.E258Q|TP53_ENST00000359597.4_Missense_Mutation_p.E258Q|TP53_ENST00000413465.2_Missense_Mutation_p.E258Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E258Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E258K(40)|p.E258*(15)|p.E258Q(9)|p.0?(8)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.T256fs*87(1)|p.E258L(1)|p.E258fs*87(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGGAGTCTTCCAGTGTGATG	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	82	Substitution - Missense(50)|Substitution - Nonsense(15)|Whole gene deletion(8)|Deletion - Frameshift(5)|Deletion - In frame(2)|Unknown(1)|Complex - insertion inframe(1)	large_intestine(14)|urinary_tract(10)|upper_aerodigestive_tract(7)|haematopoietic_and_lymphoid_tissue(7)|skin(7)|lung(6)|oesophagus(5)|central_nervous_system(4)|breast(4)|ovary(4)|bone(4)|stomach(2)|liver(2)|thyroid(1)|soft_tissue(1)|peritoneum(1)|biliary_tract(1)|endometrium(1)|pancreas(1)	GRCh37	CM900213	TP53	M	rs121912652						137.0	97.0	111.0					17																	7577509		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.772G>C	17.37:g.7577509C>G	ENSP00000269305:p.Glu258Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E258Q	ENST00000269305.4	37	c.772	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365239	0.61513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	4.62	3.62	0.41486	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.88450	2.955	0.54753	D	0.999983	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;0.999;0.999;1.0	D	0.96693	0.9512	10	0.87932	D	0	-21.9865	12.6215	0.56605	0.0:0.8318:0.1682:0.0	.	258;258;258;258;258	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	Q	258;258;258;258;258;258;247;126	ENSP00000410739:E258Q;ENSP00000352610:E258Q;ENSP00000269305:E258Q;ENSP00000398846:E258Q;ENSP00000391127:E258Q;ENSP00000391478:E258Q;ENSP00000425104:E126Q	ENSP00000269305:E258Q	E	-	1	0	TP53	7518234	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.609000	0.82925	1.266000	0.44231	0.462000	0.41574	GAA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	98	0.00	0	C	NM_000546		7577509	7577509	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	28	41.67	20	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7577509	7577509	+	Missense_Mutation	SNP	C	C	G	rs121912652		TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:7577509C>G	ENST00000269305.4	-	7	961	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	TP53_ENST00000445888.2_Missense_Mutation_p.E258Q|TP53_ENST00000455263.2_Missense_Mutation_p.E258Q|TP53_ENST00000359597.4_Missense_Mutation_p.E258Q|TP53_ENST00000413465.2_Missense_Mutation_p.E258Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E258Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E258K(40)|p.E258*(15)|p.E258Q(9)|p.0?(8)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.T256fs*87(1)|p.E258L(1)|p.E258fs*87(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGGAGTCTTCCAGTGTGATG	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	82	Substitution - Missense(50)|Substitution - Nonsense(15)|Whole gene deletion(8)|Deletion - Frameshift(5)|Deletion - In frame(2)|Unknown(1)|Complex - insertion inframe(1)	large_intestine(14)|urinary_tract(10)|upper_aerodigestive_tract(7)|haematopoietic_and_lymphoid_tissue(7)|skin(7)|lung(6)|oesophagus(5)|central_nervous_system(4)|breast(4)|ovary(4)|bone(4)|stomach(2)|liver(2)|thyroid(1)|soft_tissue(1)|peritoneum(1)|biliary_tract(1)|endometrium(1)|pancreas(1)	GRCh37	CM900213	TP53	M	rs121912652						137.0	97.0	111.0					17																	7577509		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.772G>C	17.37:g.7577509C>G	ENSP00000269305:p.Glu258Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E258Q	ENST00000269305.4	37	c.772	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365239	0.61513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	4.62	3.62	0.41486	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.88450	2.955	0.54753	D	0.999983	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;0.999;0.999;1.0	D	0.96693	0.9512	10	0.87932	D	0	-21.9865	12.6215	0.56605	0.0:0.8318:0.1682:0.0	.	258;258;258;258;258	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	Q	258;258;258;258;258;258;247;126	ENSP00000410739:E258Q;ENSP00000352610:E258Q;ENSP00000269305:E258Q;ENSP00000398846:E258Q;ENSP00000391127:E258Q;ENSP00000391478:E258Q;ENSP00000425104:E126Q	ENSP00000269305:E258Q	E	-	1	0	TP53	7518234	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.609000	0.82925	1.266000	0.44231	0.462000	0.41574	GAA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	40	0.00	0	C	NM_000546		7577509	7577509	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	28	41.67	20	SNP	1.000	G
TPPP2	122664	genome.wustl.edu	37	14	21499252	21499252	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr14:21499252G>A	ENST00000321760.6	+	3	403	c.255G>A	c.(253-255)aaG>aaA	p.K85K	TPPP2_ENST00000460647.2_Silent_p.K85K|NDRG2_ENST00000403829.3_Intron|AL161668.5_ENST00000533984.1_lincRNA|TPPP2_ENST00000530140.2_Silent_p.K85K|RP11-998D10.1_ENST00000531638.1_5'Flank	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	85						cytoplasm (GO:0005737)		p.K85N(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCAAAGGGAAGAGTCCAGATG	0.527																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											108.0	101.0	104.0					14																	21499252		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.255G>A	14.37:g.21499252G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VYF3	Missense_Mutation	SNP	pfam_P25-alpha	p.R77K	ENST00000321760.6	37	c.230	CCDS9566.1	14	.	.	.	.	.	.	.	.	.	.	G	0.709	-0.787843	0.02884	.	.	ENSG00000179636	ENST00000555751	.	.	.	4.84	1.71	0.24356	.	.	.	.	.	T	0.55529	0.1926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48625	-0.9019	4	.	.	.	-15.6196	7.7479	0.28879	0.3328:0.0:0.6672:0.0	.	.	.	.	K	24	.	.	R	+	2	0	TPPP2	20569092	0.991000	0.36638	0.143000	0.22291	0.066000	0.16364	1.480000	0.35464	0.593000	0.29745	0.655000	0.94253	AGA	TPPP2	-	pfam_P25-alpha	ENSG00000179636		0.527	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPPP2	HGNC	protein_coding	OTTHUMT00000073914.3	445	0.00	0	G	NM_173846		21499252	21499252	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000495665	ensembl	human	known	69_37n	missense	174	27.80	67	SNP	0.974	A
TPPP2	122664	genome.wustl.edu	37	14	21499252	21499252	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr14:21499252G>A	ENST00000321760.6	+	3	403	c.255G>A	c.(253-255)aaG>aaA	p.K85K	TPPP2_ENST00000460647.2_Silent_p.K85K|NDRG2_ENST00000403829.3_Intron|AL161668.5_ENST00000533984.1_lincRNA|TPPP2_ENST00000530140.2_Silent_p.K85K|RP11-998D10.1_ENST00000531638.1_5'Flank	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	85						cytoplasm (GO:0005737)		p.K85N(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCAAAGGGAAGAGTCCAGATG	0.527																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											108.0	101.0	104.0					14																	21499252		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.255G>A	14.37:g.21499252G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VYF3	Missense_Mutation	SNP	pfam_P25-alpha	p.R77K	ENST00000321760.6	37	c.230	CCDS9566.1	14	.	.	.	.	.	.	.	.	.	.	G	0.709	-0.787843	0.02884	.	.	ENSG00000179636	ENST00000555751	.	.	.	4.84	1.71	0.24356	.	.	.	.	.	T	0.55529	0.1926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48625	-0.9019	4	.	.	.	-15.6196	7.7479	0.28879	0.3328:0.0:0.6672:0.0	.	.	.	.	K	24	.	.	R	+	2	0	TPPP2	20569092	0.991000	0.36638	0.143000	0.22291	0.066000	0.16364	1.480000	0.35464	0.593000	0.29745	0.655000	0.94253	AGA	TPPP2	-	pfam_P25-alpha	ENSG00000179636		0.527	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPPP2	HGNC	protein_coding	OTTHUMT00000073914.3	169	0.00	0	G	NM_173846		21499252	21499252	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000495665	ensembl	human	known	69_37n	missense	174	27.80	67	SNP	0.974	A
TRIM28	10155	genome.wustl.edu	37	19	59059687	59059687	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:59059687C>G	ENST00000253024.5	+	8	1417	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	TRIM28_ENST00000341753.6_Silent_p.L294L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	376	Interaction with MAGEC2.|Leucine zipper alpha helical coiled-coil region.|RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCGGGCCCTCAAGATGATTG	0.542																																						dbGAP											0													71.0	71.0	71.0					19																	59059687		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1128C>G	19.37:g.59059687C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L376	ENST00000253024.5	37	c.1128	CCDS12985.1	19																																																																																			TRIM28	-	smart_Bbox_C	ENSG00000130726		0.542	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM28	HGNC	protein_coding	OTTHUMT00000467074.1	112	0.00	0	C	NM_005762		59059687	59059687	+1	no_errors	ENST00000253024	ensembl	human	known	69_37n	silent	36	33.33	18	SNP	0.999	G
TRIM28	10155	genome.wustl.edu	37	19	59059687	59059687	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:59059687C>G	ENST00000253024.5	+	8	1417	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	TRIM28_ENST00000341753.6_Silent_p.L294L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	376	Interaction with MAGEC2.|Leucine zipper alpha helical coiled-coil region.|RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCGGGCCCTCAAGATGATTG	0.542																																						dbGAP											0													71.0	71.0	71.0					19																	59059687		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1128C>G	19.37:g.59059687C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L376	ENST00000253024.5	37	c.1128	CCDS12985.1	19																																																																																			TRIM28	-	smart_Bbox_C	ENSG00000130726		0.542	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM28	HGNC	protein_coding	OTTHUMT00000467074.1	32	0.00	0	C	NM_005762		59059687	59059687	+1	no_errors	ENST00000253024	ensembl	human	known	69_37n	silent	36	33.33	18	SNP	0.999	G
TRIM28	10155	genome.wustl.edu	37	19	59059946	59059946	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:59059946C>G	ENST00000253024.5	+	9	1599	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	TRIM28_ENST00000341753.6_Missense_Mutation_p.S355C	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	437					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AAGCAGGGCTCTGGCAGCAGC	0.657																																						dbGAP											0													37.0	41.0	40.0					19																	59059946		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1310C>G	19.37:g.59059946C>G	ENSP00000253024:p.Ser437Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S437C	ENST00000253024.5	37	c.1310	CCDS12985.1	19	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777570	0.49786	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.69685	-0.2;-0.42	5.12	5.12	0.69794	.	0.375052	0.23224	N	0.050540	T	0.66157	0.2761	N	0.22421	0.69	0.36654	D	0.877571	D;P;D	0.64830	0.99;0.916;0.994	P;B;P	0.56474	0.799;0.439;0.635	T	0.72174	-0.4370	10	0.56958	D	0.05	-28.4224	14.2646	0.66107	0.0:1.0:0.0:0.0	.	355;437;437	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	C	437;355	ENSP00000253024:S437C;ENSP00000342232:S355C	ENSP00000253024:S437C	S	+	2	0	TRIM28	63751758	0.883000	0.30277	0.991000	0.47740	0.997000	0.91878	3.607000	0.54102	2.837000	0.97791	0.655000	0.94253	TCT	TRIM28	-	NULL	ENSG00000130726		0.657	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM28	HGNC	protein_coding	OTTHUMT00000467074.1	51	0.00	0	C	NM_005762		59059946	59059946	+1	no_errors	ENST00000253024	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.981	G
TRIM28	10155	genome.wustl.edu	37	19	59059946	59059946	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:59059946C>G	ENST00000253024.5	+	9	1599	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	TRIM28_ENST00000341753.6_Missense_Mutation_p.S355C	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	437					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AAGCAGGGCTCTGGCAGCAGC	0.657																																						dbGAP											0													37.0	41.0	40.0					19																	59059946		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1310C>G	19.37:g.59059946C>G	ENSP00000253024:p.Ser437Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S437C	ENST00000253024.5	37	c.1310	CCDS12985.1	19	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777570	0.49786	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.69685	-0.2;-0.42	5.12	5.12	0.69794	.	0.375052	0.23224	N	0.050540	T	0.66157	0.2761	N	0.22421	0.69	0.36654	D	0.877571	D;P;D	0.64830	0.99;0.916;0.994	P;B;P	0.56474	0.799;0.439;0.635	T	0.72174	-0.4370	10	0.56958	D	0.05	-28.4224	14.2646	0.66107	0.0:1.0:0.0:0.0	.	355;437;437	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	C	437;355	ENSP00000253024:S437C;ENSP00000342232:S355C	ENSP00000253024:S437C	S	+	2	0	TRIM28	63751758	0.883000	0.30277	0.991000	0.47740	0.997000	0.91878	3.607000	0.54102	2.837000	0.97791	0.655000	0.94253	TCT	TRIM28	-	NULL	ENSG00000130726		0.657	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM28	HGNC	protein_coding	OTTHUMT00000467074.1	20	0.00	0	C	NM_005762		59059946	59059946	+1	no_errors	ENST00000253024	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.981	G
TRIM37	4591	genome.wustl.edu	37	17	57139966	57139966	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:57139966G>C	ENST00000262294.7	-	11	1163	c.904C>G	c.(904-906)Caa>Gaa	p.Q302E	TRIM37_ENST00000376149.3_Missense_Mutation_p.Q180E|TRIM37_ENST00000393066.3_Missense_Mutation_p.Q302E|TRIM37_ENST00000393065.2_Missense_Mutation_p.Q268E	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	302	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CCTGAAACTTGAAGAGGTGGA	0.373									Mulibrey Nanism																													dbGAP											0													65.0	61.0	62.0					17																	57139966		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.904C>G	17.37:g.57139966G>C	ENSP00000262294:p.Gln302Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q302E	ENST00000262294.7	37	c.904	CCDS32694.1	17	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891389	0.52014	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.47	5.47	0.80525	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	N	0.08118	0	0.58432	D	0.999999	P;D;P	0.57257	0.564;0.979;0.469	B;P;B	0.50440	0.393;0.641;0.137	T	0.15578	-1.0432	10	0.33141	T	0.24	-31.0458	19.3189	0.94229	0.0:0.0:1.0:0.0	.	268;180;302	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	E	302;302;180;268	ENSP00000376785:Q302E;ENSP00000262294:Q302E;ENSP00000365319:Q180E;ENSP00000376784:Q268E	ENSP00000262294:Q302E	Q	-	1	0	TRIM37	54494748	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.670000	0.98625	2.574000	0.86865	0.650000	0.86243	CAA	TRIM37	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH	ENSG00000108395		0.373	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	121	0.00	0	G	NM_015294		57139966	57139966	-1	no_errors	ENST00000262294	ensembl	human	known	69_37n	missense	315	13.42	49	SNP	1.000	C
TRIM37	4591	genome.wustl.edu	37	17	57139966	57139966	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:57139966G>C	ENST00000262294.7	-	11	1163	c.904C>G	c.(904-906)Caa>Gaa	p.Q302E	TRIM37_ENST00000376149.3_Missense_Mutation_p.Q180E|TRIM37_ENST00000393066.3_Missense_Mutation_p.Q302E|TRIM37_ENST00000393065.2_Missense_Mutation_p.Q268E	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	302	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CCTGAAACTTGAAGAGGTGGA	0.373									Mulibrey Nanism																													dbGAP											0													65.0	61.0	62.0					17																	57139966		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.904C>G	17.37:g.57139966G>C	ENSP00000262294:p.Gln302Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q302E	ENST00000262294.7	37	c.904	CCDS32694.1	17	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891389	0.52014	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.47	5.47	0.80525	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	N	0.08118	0	0.58432	D	0.999999	P;D;P	0.57257	0.564;0.979;0.469	B;P;B	0.50440	0.393;0.641;0.137	T	0.15578	-1.0432	10	0.33141	T	0.24	-31.0458	19.3189	0.94229	0.0:0.0:1.0:0.0	.	268;180;302	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	E	302;302;180;268	ENSP00000376785:Q302E;ENSP00000262294:Q302E;ENSP00000365319:Q180E;ENSP00000376784:Q268E	ENSP00000262294:Q302E	Q	-	1	0	TRIM37	54494748	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.670000	0.98625	2.574000	0.86865	0.650000	0.86243	CAA	TRIM37	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH	ENSG00000108395		0.373	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	106	0.00	0	G	NM_015294		57139966	57139966	-1	no_errors	ENST00000262294	ensembl	human	known	69_37n	missense	315	13.42	49	SNP	1.000	C
TRIP11	9321	genome.wustl.edu	37	14	92471025	92471025	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr14:92471025C>T	ENST00000267622.4	-	11	3668	c.3295G>A	c.(3295-3297)Gaa>Aaa	p.E1099K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1099					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AATACCTTTTCTCTTTCCATA	0.378			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	dbGAP		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													97.0	93.0	94.0					14																	92471025		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3295G>A	14.37:g.92471025C>T	ENSP00000267622:p.Glu1099Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.E1099K	ENST00000267622.4	37	c.3295	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.29|15.29	2.788339|2.788339	0.49997|0.49997	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|T	0.07216|0.07327	3.21|3.2	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	0.055023|.	0.64402|.	D|.	0.000001|.	T|T	0.14098|0.14098	0.0341|0.0341	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.59357|.	0.985;0.962|.	P;P|.	0.58873|.	0.847;0.731|.	T|T	0.09207|0.09207	-1.0685|-1.0685	10|6	0.62326|.	D|.	0.03|.	.|.	18.4676|18.4676	0.90761|0.90761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	835;1099|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	K|K	1099;835|814	ENSP00000267622:E1099K|ENSP00000451032:R814K	ENSP00000267622:E1099K|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91540778|91540778	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.196000|0.196000	0.23810|0.23810	7.731000|7.731000	0.84895|0.84895	2.420000|2.420000	0.82092|0.82092	0.563000|0.563000	0.77884|0.77884	GAA|AGA	TRIP11	-	NULL	ENSG00000100815		0.378	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	150	0.00	0	C			92471025	92471025	-1	no_errors	ENST00000267622	ensembl	human	known	69_37n	missense	181	23.95	57	SNP	1.000	T
TRIP11	9321	genome.wustl.edu	37	14	92471025	92471025	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr14:92471025C>T	ENST00000267622.4	-	11	3668	c.3295G>A	c.(3295-3297)Gaa>Aaa	p.E1099K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1099					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AATACCTTTTCTCTTTCCATA	0.378			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	dbGAP		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													97.0	93.0	94.0					14																	92471025		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3295G>A	14.37:g.92471025C>T	ENSP00000267622:p.Glu1099Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.E1099K	ENST00000267622.4	37	c.3295	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.29|15.29	2.788339|2.788339	0.49997|0.49997	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|T	0.07216|0.07327	3.21|3.2	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	0.055023|.	0.64402|.	D|.	0.000001|.	T|T	0.14098|0.14098	0.0341|0.0341	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.59357|.	0.985;0.962|.	P;P|.	0.58873|.	0.847;0.731|.	T|T	0.09207|0.09207	-1.0685|-1.0685	10|6	0.62326|.	D|.	0.03|.	.|.	18.4676|18.4676	0.90761|0.90761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	835;1099|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	K|K	1099;835|814	ENSP00000267622:E1099K|ENSP00000451032:R814K	ENSP00000267622:E1099K|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91540778|91540778	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.196000|0.196000	0.23810|0.23810	7.731000|7.731000	0.84895|0.84895	2.420000|2.420000	0.82092|0.82092	0.563000|0.563000	0.77884|0.77884	GAA|AGA	TRIP11	-	NULL	ENSG00000100815		0.378	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	142	0.00	0	C			92471025	92471025	-1	no_errors	ENST00000267622	ensembl	human	known	69_37n	missense	181	23.95	57	SNP	1.000	T
TTC29	83894	genome.wustl.edu	37	4	147724765	147724765	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:147724765G>A	ENST00000325106.4	-	11	1400	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	TTC29_ENST00000513335.1_Silent_p.L418L|TTC29_ENST00000506019.1_5'UTR|TTC29_ENST00000398886.4_Silent_p.L418L	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	392										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCATCCATCAGAGGCATGCTC	0.383																																						dbGAP											0													70.0	70.0	70.0					4																	147724765		1901	4131	6032	-	-	-	SO:0001819	synonymous_variant	0			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1174C>T	4.37:g.147724765G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4GU95|Q9BXB6	Silent	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.L418	ENST00000325106.4	37	c.1252	CCDS47141.1	4																																																																																			TTC29	-	NULL	ENSG00000137473		0.383	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC29	HGNC	protein_coding		21	0.00	0	G	NM_031956		147724765	147724765	-1	no_errors	ENST00000398886	ensembl	human	known	69_37n	silent	36	28.00	14	SNP	0.469	A
TTC29	83894	genome.wustl.edu	37	4	147724765	147724765	+	Silent	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:147724765G>A	ENST00000325106.4	-	11	1400	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	TTC29_ENST00000513335.1_Silent_p.L418L|TTC29_ENST00000506019.1_5'UTR|TTC29_ENST00000398886.4_Silent_p.L418L	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	392										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCATCCATCAGAGGCATGCTC	0.383																																						dbGAP											0													70.0	70.0	70.0					4																	147724765		1901	4131	6032	-	-	-	SO:0001819	synonymous_variant	0			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1174C>T	4.37:g.147724765G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4GU95|Q9BXB6	Silent	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.L418	ENST00000325106.4	37	c.1252	CCDS47141.1	4																																																																																			TTC29	-	NULL	ENSG00000137473		0.383	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC29	HGNC	protein_coding		39	0.00	0	G	NM_031956		147724765	147724765	-1	no_errors	ENST00000398886	ensembl	human	known	69_37n	silent	36	28.00	14	SNP	0.469	A
TTI1	9675	genome.wustl.edu	37	20	36641850	36641850	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr20:36641850C>T	ENST00000373448.2	-	3	607	c.369G>A	c.(367-369)gtG>gtA	p.V123V	TTI1_ENST00000373447.3_Silent_p.V123V|TTI1_ENST00000449821.1_Silent_p.V123V|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	123					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTCCCTGGATCACAGCCAATT	0.468																																						dbGAP											0													103.0	104.0	104.0					20																	36641850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.369G>A	20.37:g.36641850C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.V123	ENST00000373448.2	37	c.369	CCDS13300.1	20																																																																																			TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.468	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	136	0.00	0	C	NM_014657		36641850	36641850	-1	no_errors	ENST00000373447	ensembl	human	known	69_37n	silent	124	27.75	48	SNP	0.995	T
TTI1	9675	genome.wustl.edu	37	20	36641850	36641850	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr20:36641850C>T	ENST00000373448.2	-	3	607	c.369G>A	c.(367-369)gtG>gtA	p.V123V	TTI1_ENST00000373447.3_Silent_p.V123V|TTI1_ENST00000449821.1_Silent_p.V123V|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	123					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTCCCTGGATCACAGCCAATT	0.468																																						dbGAP											0													103.0	104.0	104.0					20																	36641850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.369G>A	20.37:g.36641850C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.V123	ENST00000373448.2	37	c.369	CCDS13300.1	20																																																																																			TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.468	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	172	0.00	0	C	NM_014657		36641850	36641850	-1	no_errors	ENST00000373447	ensembl	human	known	69_37n	silent	124	27.75	48	SNP	0.995	T
TXK	7294	genome.wustl.edu	37	4	48081956	48081956	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:48081956C>T	ENST00000264316.4	-	11	1231	c.1146G>A	c.(1144-1146)gaG>gaA	p.E382E	TXK_ENST00000507351.1_Silent_p.E37E	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AGCCATTCCTCTCCAGATATT	0.363																																						dbGAP											0													183.0	178.0	179.0					4																	48081956		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1146G>A	4.37:g.48081956C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14220	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E382	ENST00000264316.4	37	c.1146	CCDS3480.1	4																																																																																			TXK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000074966		0.363	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	486	0.21	1	C	NM_003328		48081956	48081956	-1	no_errors	ENST00000264316	ensembl	human	known	69_37n	silent	472	24.80	156	SNP	0.983	T
TXK	7294	genome.wustl.edu	37	4	48081956	48081956	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:48081956C>T	ENST00000264316.4	-	11	1231	c.1146G>A	c.(1144-1146)gaG>gaA	p.E382E	TXK_ENST00000507351.1_Silent_p.E37E	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AGCCATTCCTCTCCAGATATT	0.363																																						dbGAP											0													183.0	178.0	179.0					4																	48081956		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1146G>A	4.37:g.48081956C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14220	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E382	ENST00000264316.4	37	c.1146	CCDS3480.1	4																																																																																			TXK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000074966		0.363	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	369	0.00	0	C	NM_003328		48081956	48081956	-1	no_errors	ENST00000264316	ensembl	human	known	69_37n	silent	472	24.80	156	SNP	0.983	T
UGGT2	55757	genome.wustl.edu	37	13	96589256	96589256	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr13:96589256C>T	ENST00000376747.3	-	17	1969	c.1899G>A	c.(1897-1899)atG>atA	p.M633I		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	633					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CTTTAATATTCATCTCTTCAT	0.338																																						dbGAP											0													86.0	92.0	90.0					13																	96589256		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1899G>A	13.37:g.96589256C>T	ENSP00000365938:p.Met633Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.M633I	ENST00000376747.3	37	c.1899	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	C	7.716	0.696230	0.15106	.	.	ENSG00000102595	ENST00000376747	T	0.28255	1.62	5.55	0.79	0.18613	.	0.174996	0.64402	N	0.000010	T	0.15435	0.0372	N	0.17872	0.535	0.39611	D	0.969888	B	0.02656	0.0	B	0.04013	0.001	T	0.12268	-1.0554	10	0.23302	T	0.38	-0.9699	6.5799	0.22588	0.1156:0.6306:0.0:0.2538	.	633	Q9NYU1	UGGG2_HUMAN	I	633	ENSP00000365938:M633I	ENSP00000365938:M633I	M	-	3	0	UGGT2	95387257	0.623000	0.27094	0.003000	0.11579	0.007000	0.05969	0.914000	0.28624	-0.104000	0.12154	-0.181000	0.13052	ATG	UGGT2	-	NULL	ENSG00000102595		0.338	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	174	0.00	0	C	NM_020121		96589256	96589256	-1	no_errors	ENST00000376747	ensembl	human	known	69_37n	missense	196	27.41	74	SNP	0.457	T
UGGT2	55757	genome.wustl.edu	37	13	96589256	96589256	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr13:96589256C>T	ENST00000376747.3	-	17	1969	c.1899G>A	c.(1897-1899)atG>atA	p.M633I		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	633					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CTTTAATATTCATCTCTTCAT	0.338																																						dbGAP											0													86.0	92.0	90.0					13																	96589256		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1899G>A	13.37:g.96589256C>T	ENSP00000365938:p.Met633Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.M633I	ENST00000376747.3	37	c.1899	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	C	7.716	0.696230	0.15106	.	.	ENSG00000102595	ENST00000376747	T	0.28255	1.62	5.55	0.79	0.18613	.	0.174996	0.64402	N	0.000010	T	0.15435	0.0372	N	0.17872	0.535	0.39611	D	0.969888	B	0.02656	0.0	B	0.04013	0.001	T	0.12268	-1.0554	10	0.23302	T	0.38	-0.9699	6.5799	0.22588	0.1156:0.6306:0.0:0.2538	.	633	Q9NYU1	UGGG2_HUMAN	I	633	ENSP00000365938:M633I	ENSP00000365938:M633I	M	-	3	0	UGGT2	95387257	0.623000	0.27094	0.003000	0.11579	0.007000	0.05969	0.914000	0.28624	-0.104000	0.12154	-0.181000	0.13052	ATG	UGGT2	-	NULL	ENSG00000102595		0.338	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	231	0.00	0	C	NM_020121		96589256	96589256	-1	no_errors	ENST00000376747	ensembl	human	known	69_37n	missense	196	27.41	74	SNP	0.457	T
UGT2B4	7363	genome.wustl.edu	37	4	70346610	70346610	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:70346610C>G	ENST00000305107.6	-	6	1375	c.1329G>C	c.(1327-1329)atG>atC	p.M443I	UGT2B4_ENST00000381096.3_Missense_Mutation_p.M307I|UGT2B4_ENST00000512583.1_Nonstop_Mutation_p.*370S|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	443					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TTGATAATTTCATAGCATTCT	0.418																																						dbGAP											0													77.0	79.0	78.0					4																	70346610		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1329G>C	4.37:g.70346610C>G	ENSP00000305221:p.Met443Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.M443I	ENST00000305107.6	37	c.1329	CCDS43234.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.022|0.022	-1.414242|-1.414242	0.01145|0.01145	.|.	.|.	ENSG00000156096|ENSG00000156096	ENST00000305107;ENST00000381096|ENST00000512583	T;T|.	0.66995|.	-0.24;-0.24|.	2.11|2.11	2.11|2.11	0.27256|0.27256	.|.	0.135014|.	0.45126|.	U|.	0.000393|.	T|.	0.64305|.	0.2586|.	M|M	0.88031|0.88031	2.925|2.925	0.22888|0.22888	N|N	0.998601|0.998601	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.10450|.	0.005;0.003|.	T|.	0.56111|.	-0.8033|.	10|.	0.66056|.	D|.	0.02|.	.|.	10.2729|10.2729	0.43493|0.43493	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	307;443|.	A6NCP7;P06133|.	.;UD2B4_HUMAN|.	I|S	443;307|370	ENSP00000305221:M443I;ENSP00000370486:M307I|.	ENSP00000305221:M443I|.	M|X	-|-	3|2	0|2	UGT2B4|UGT2B4	70381199|70381199	0.067000|0.067000	0.21026|0.21026	0.547000|0.547000	0.28179|0.28179	0.221000|0.221000	0.24807|0.24807	1.480000|1.480000	0.35464|0.35464	1.508000|1.508000	0.48769|0.48769	0.305000|0.305000	0.20034|0.20034	ATG|TGA	UGT2B4	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	ENSG00000156096		0.418	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B4	HGNC	protein_coding	OTTHUMT00000365526.1	273	0.00	0	C	NM_021139		70346610	70346610	-1	no_errors	ENST00000305107	ensembl	human	known	69_37n	missense	224	27.74	86	SNP	0.960	G
UGT2B4	7363	genome.wustl.edu	37	4	70346610	70346610	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:70346610C>G	ENST00000305107.6	-	6	1375	c.1329G>C	c.(1327-1329)atG>atC	p.M443I	UGT2B4_ENST00000381096.3_Missense_Mutation_p.M307I|UGT2B4_ENST00000512583.1_Nonstop_Mutation_p.*370S|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	443					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TTGATAATTTCATAGCATTCT	0.418																																						dbGAP											0													77.0	79.0	78.0					4																	70346610		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1329G>C	4.37:g.70346610C>G	ENSP00000305221:p.Met443Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.M443I	ENST00000305107.6	37	c.1329	CCDS43234.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.022|0.022	-1.414242|-1.414242	0.01145|0.01145	.|.	.|.	ENSG00000156096|ENSG00000156096	ENST00000305107;ENST00000381096|ENST00000512583	T;T|.	0.66995|.	-0.24;-0.24|.	2.11|2.11	2.11|2.11	0.27256|0.27256	.|.	0.135014|.	0.45126|.	U|.	0.000393|.	T|.	0.64305|.	0.2586|.	M|M	0.88031|0.88031	2.925|2.925	0.22888|0.22888	N|N	0.998601|0.998601	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.10450|.	0.005;0.003|.	T|.	0.56111|.	-0.8033|.	10|.	0.66056|.	D|.	0.02|.	.|.	10.2729|10.2729	0.43493|0.43493	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	307;443|.	A6NCP7;P06133|.	.;UD2B4_HUMAN|.	I|S	443;307|370	ENSP00000305221:M443I;ENSP00000370486:M307I|.	ENSP00000305221:M443I|.	M|X	-|-	3|2	0|2	UGT2B4|UGT2B4	70381199|70381199	0.067000|0.067000	0.21026|0.21026	0.547000|0.547000	0.28179|0.28179	0.221000|0.221000	0.24807|0.24807	1.480000|1.480000	0.35464|0.35464	1.508000|1.508000	0.48769|0.48769	0.305000|0.305000	0.20034|0.20034	ATG|TGA	UGT2B4	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	ENSG00000156096		0.418	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B4	HGNC	protein_coding	OTTHUMT00000365526.1	196	0.00	0	C	NM_021139		70346610	70346610	-1	no_errors	ENST00000305107	ensembl	human	known	69_37n	missense	224	27.74	86	SNP	0.960	G
UNC5D	137970	genome.wustl.edu	37	8	35542203	35542203	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr8:35542203C>G	ENST00000404895.2	+	6	1183	c.855C>G	c.(853-855)ctC>ctG	p.L285L	UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000453357.2_Silent_p.L280L|UNC5D_ENST00000416672.1_Silent_p.L285L|UNC5D_ENST00000287272.2_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	285	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGCTCCTCTCAATGGTGGGG	0.517																																						dbGAP											0													168.0	152.0	157.0					8																	35542203		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.855C>G	8.37:g.35542203C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.L285	ENST00000404895.2	37	c.855	CCDS6093.2	8																																																																																			UNC5D	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000156687		0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	303	0.00	0	C			35542203	35542203	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	silent	106	28.67	43	SNP	1.000	G
UNC5D	137970	genome.wustl.edu	37	8	35542203	35542203	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr8:35542203C>G	ENST00000404895.2	+	6	1183	c.855C>G	c.(853-855)ctC>ctG	p.L285L	UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000453357.2_Silent_p.L280L|UNC5D_ENST00000416672.1_Silent_p.L285L|UNC5D_ENST00000287272.2_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	285	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGCTCCTCTCAATGGTGGGG	0.517																																						dbGAP											0													168.0	152.0	157.0					8																	35542203		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.855C>G	8.37:g.35542203C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.L285	ENST00000404895.2	37	c.855	CCDS6093.2	8																																																																																			UNC5D	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000156687		0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	124	0.00	0	C			35542203	35542203	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	silent	106	28.67	43	SNP	1.000	G
USH2A	7399	genome.wustl.edu	37	1	216373262	216373262	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr1:216373262G>A	ENST00000307340.3	-	17	3904	c.3518C>T	c.(3517-3519)tCa>tTa	p.S1173L	USH2A_ENST00000366943.2_Missense_Mutation_p.S1173L|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1173L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATTGATTTGAGAGTGTTGT	0.448										HNSCC(13;0.011)																												dbGAP											0													109.0	112.0	111.0					1																	216373262		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3518C>T	1.37:g.216373262G>A	ENSP00000305941:p.Ser1173Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S1173L	ENST00000307340.3	37	c.3518	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176504	0.38413	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.57436	0.4;0.4;0.4	6.02	4.93	0.64822	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.200050	0.24417	N	0.038719	T	0.47002	0.1422	L	0.45581	1.43	0.32335	N	0.560591	B;B	0.15141	0.012;0.012	B;B	0.16722	0.013;0.016	T	0.49051	-0.8979	10	0.23891	T	0.37	.	16.1759	0.81851	0.0734:0.0:0.9266:0.0	.	1173;1173	O75445-2;O75445	.;USH2A_HUMAN	L	1173	ENSP00000305941:S1173L;ENSP00000355910:S1173L;ENSP00000355909:S1173L	ENSP00000305941:S1173L	S	-	2	0	USH2A	214439885	0.863000	0.29885	0.534000	0.28014	0.713000	0.41058	3.117000	0.50407	2.865000	0.98341	0.655000	0.94253	TCA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	283	0.00	0	G	NM_007123		216373262	216373262	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	243	29.15	100	SNP	0.818	A
USH2A	7399	genome.wustl.edu	37	1	216373262	216373262	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr1:216373262G>A	ENST00000307340.3	-	17	3904	c.3518C>T	c.(3517-3519)tCa>tTa	p.S1173L	USH2A_ENST00000366943.2_Missense_Mutation_p.S1173L|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1173L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATTGATTTGAGAGTGTTGT	0.448										HNSCC(13;0.011)																												dbGAP											0													109.0	112.0	111.0					1																	216373262		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3518C>T	1.37:g.216373262G>A	ENSP00000305941:p.Ser1173Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S1173L	ENST00000307340.3	37	c.3518	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176504	0.38413	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.57436	0.4;0.4;0.4	6.02	4.93	0.64822	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.200050	0.24417	N	0.038719	T	0.47002	0.1422	L	0.45581	1.43	0.32335	N	0.560591	B;B	0.15141	0.012;0.012	B;B	0.16722	0.013;0.016	T	0.49051	-0.8979	10	0.23891	T	0.37	.	16.1759	0.81851	0.0734:0.0:0.9266:0.0	.	1173;1173	O75445-2;O75445	.;USH2A_HUMAN	L	1173	ENSP00000305941:S1173L;ENSP00000355910:S1173L;ENSP00000355909:S1173L	ENSP00000305941:S1173L	S	-	2	0	USH2A	214439885	0.863000	0.29885	0.534000	0.28014	0.713000	0.41058	3.117000	0.50407	2.865000	0.98341	0.655000	0.94253	TCA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	184	0.00	0	G	NM_007123		216373262	216373262	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	243	29.15	100	SNP	0.818	A
USP51	158880	genome.wustl.edu	37	X	55514740	55514740	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chrX:55514740C>G	ENST00000500968.3	-	2	715	c.633G>C	c.(631-633)ctG>ctC	p.L211L	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	211					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						AGATCAACCTCAGGTTCTTCT	0.498																																						dbGAP											0													78.0	64.0	69.0					X																	55514740		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.633G>C	X.37:g.55514740C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWJ8	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L211	ENST00000500968.3	37	c.633	CCDS14370.1	X																																																																																			USP51	-	NULL	ENSG00000247746		0.498	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	53	0.00	0	C	NM_201286		55514740	55514740	-1	no_errors	ENST00000500968	ensembl	human	known	69_37n	silent	34	15.00	6	SNP	0.984	G
USP51	158880	genome.wustl.edu	37	X	55514740	55514740	+	Silent	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chrX:55514740C>G	ENST00000500968.3	-	2	715	c.633G>C	c.(631-633)ctG>ctC	p.L211L	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	211					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						AGATCAACCTCAGGTTCTTCT	0.498																																						dbGAP											0													78.0	64.0	69.0					X																	55514740		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.633G>C	X.37:g.55514740C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWJ8	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L211	ENST00000500968.3	37	c.633	CCDS14370.1	X																																																																																			USP51	-	NULL	ENSG00000247746		0.498	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	125	0.00	0	C	NM_201286		55514740	55514740	-1	no_errors	ENST00000500968	ensembl	human	known	69_37n	silent	34	15.00	6	SNP	0.984	G
VPS13B	157680	genome.wustl.edu	37	8	100866400	100866400	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr8:100866400G>A	ENST00000358544.2	+	56	10969	c.10858G>A	c.(10858-10860)Gaa>Aaa	p.E3620K	VPS13B_ENST00000357162.2_Missense_Mutation_p.E3595K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3620					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCGGTGTTTGAAAGAGGACC	0.537																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													117.0	94.0	102.0					8																	100866400		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10858G>A	8.37:g.100866400G>A	ENSP00000351346:p.Glu3620Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E3620K	ENST00000358544.2	37	c.10858	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.543776	0.96474	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72051	-0.62;-0.62	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	L	0.52206	1.635	0.80722	D	1	P;D	0.69078	0.885;0.997	P;D	0.75020	0.492;0.985	T	0.80650	-0.1288	10	0.48119	T	0.1	.	19.4081	0.94656	0.0:0.0:1.0:0.0	.	3595;3620	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	K	3595;3620	ENSP00000349685:E3595K;ENSP00000351346:E3620K	ENSP00000349685:E3595K	E	+	1	0	VPS13B	100935576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.190000	0.94934	2.563000	0.86464	0.650000	0.86243	GAA	VPS13B	-	NULL	ENSG00000132549		0.537	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	128	0.00	0	G	NM_184042		100866400	100866400	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	missense	126	42.47	93	SNP	1.000	A
VPS13B	157680	genome.wustl.edu	37	8	100866400	100866400	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr8:100866400G>A	ENST00000358544.2	+	56	10969	c.10858G>A	c.(10858-10860)Gaa>Aaa	p.E3620K	VPS13B_ENST00000357162.2_Missense_Mutation_p.E3595K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3620					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCGGTGTTTGAAAGAGGACC	0.537																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													117.0	94.0	102.0					8																	100866400		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10858G>A	8.37:g.100866400G>A	ENSP00000351346:p.Glu3620Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E3620K	ENST00000358544.2	37	c.10858	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.543776	0.96474	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72051	-0.62;-0.62	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	L	0.52206	1.635	0.80722	D	1	P;D	0.69078	0.885;0.997	P;D	0.75020	0.492;0.985	T	0.80650	-0.1288	10	0.48119	T	0.1	.	19.4081	0.94656	0.0:0.0:1.0:0.0	.	3595;3620	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	K	3595;3620	ENSP00000349685:E3595K;ENSP00000351346:E3620K	ENSP00000349685:E3595K	E	+	1	0	VPS13B	100935576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.190000	0.94934	2.563000	0.86464	0.650000	0.86243	GAA	VPS13B	-	NULL	ENSG00000132549		0.537	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	136	0.00	0	G	NM_184042		100866400	100866400	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	missense	126	42.47	93	SNP	1.000	A
VPS8	23355	genome.wustl.edu	37	3	184543993	184543993	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr3:184543993C>G	ENST00000437079.3	+	3	367	c.196C>G	c.(196-198)Cca>Gca	p.P66A	VPS8_ENST00000287546.4_Missense_Mutation_p.P66A|VPS8_ENST00000446204.2_Missense_Mutation_p.P66A|VPS8_ENST00000436792.2_Missense_Mutation_p.P66A|VPS8_ENST00000424463.2_Missense_Mutation_p.P66A	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	66							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGATACTCCTCCAACACTGGA	0.308																																						dbGAP											0													113.0	107.0	109.0					3																	184543993		1857	4097	5954	-	-	-	SO:0001583	missense	0			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.196C>G	3.37:g.184543993C>G	ENSP00000397879:p.Pro66Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P66A	ENST00000437079.3	37	c.196	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926902	0.92319	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204;ENST00000422105;ENST00000424463;ENST00000453056;ENST00000441141;ENST00000445089	T;T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.55213	1.73	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	T	0.03493	-1.1031	10	0.66056	D	0.02	-19.9687	19.1739	0.93594	0.0:1.0:0.0:0.0	.	66;66;66	Q8N3P4-2;C9JP71;Q8N3P4-3	.;.;.	A	66	ENSP00000287546:P66A;ENSP00000397879:P66A;ENSP00000404704:P66A;ENSP00000405483:P66A;ENSP00000415161:P66A;ENSP00000389480:P66A;ENSP00000409957:P66A;ENSP00000416150:P66A	ENSP00000287546:P66A	P	+	1	0	VPS8	186026687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.823000	0.75282	2.827000	0.97445	0.650000	0.86243	CCA	VPS8	-	NULL	ENSG00000156931		0.308	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		134	0.00	0	C	NM_015303		184543993	184543993	+1	no_errors	ENST00000287546	ensembl	human	known	69_37n	missense	87	23.68	27	SNP	1.000	G
VPS8	23355	genome.wustl.edu	37	3	184543993	184543993	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr3:184543993C>G	ENST00000437079.3	+	3	367	c.196C>G	c.(196-198)Cca>Gca	p.P66A	VPS8_ENST00000287546.4_Missense_Mutation_p.P66A|VPS8_ENST00000446204.2_Missense_Mutation_p.P66A|VPS8_ENST00000436792.2_Missense_Mutation_p.P66A|VPS8_ENST00000424463.2_Missense_Mutation_p.P66A	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	66							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGATACTCCTCCAACACTGGA	0.308																																						dbGAP											0													113.0	107.0	109.0					3																	184543993		1857	4097	5954	-	-	-	SO:0001583	missense	0			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.196C>G	3.37:g.184543993C>G	ENSP00000397879:p.Pro66Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P66A	ENST00000437079.3	37	c.196	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926902	0.92319	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204;ENST00000422105;ENST00000424463;ENST00000453056;ENST00000441141;ENST00000445089	T;T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.55213	1.73	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	T	0.03493	-1.1031	10	0.66056	D	0.02	-19.9687	19.1739	0.93594	0.0:1.0:0.0:0.0	.	66;66;66	Q8N3P4-2;C9JP71;Q8N3P4-3	.;.;.	A	66	ENSP00000287546:P66A;ENSP00000397879:P66A;ENSP00000404704:P66A;ENSP00000405483:P66A;ENSP00000415161:P66A;ENSP00000389480:P66A;ENSP00000409957:P66A;ENSP00000416150:P66A	ENSP00000287546:P66A	P	+	1	0	VPS8	186026687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.823000	0.75282	2.827000	0.97445	0.650000	0.86243	CCA	VPS8	-	NULL	ENSG00000156931		0.308	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		74	0.00	0	C	NM_015303		184543993	184543993	+1	no_errors	ENST00000287546	ensembl	human	known	69_37n	missense	87	23.68	27	SNP	1.000	G
WDFY3	23001	genome.wustl.edu	37	4	85762417	85762417	+	Splice_Site	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:85762417C>A	ENST00000295888.4	-	6	712		c.e6-1		WDFY3_ENST00000322366.6_Splice_Site	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3						aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTGCAGCCTCTATAAAACCA	0.388																																						dbGAP											0													48.0	51.0	50.0					4																	85762417		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.305-1G>T	4.37:g.85762417C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Splice_Site	SNP	-	e3-1	ENST00000295888.4	37	c.305-1	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280872	0.80692	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514071	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDFY3	85981441	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	7.603000	0.82811	2.894000	0.99253	0.591000	0.81541	.	WDFY3	-	-	ENSG00000163625		0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	77	0.00	0	C	NM_014991	Intron	85762417	85762417	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	splice_site	72	37.93	44	SNP	1.000	A
WDFY3	23001	genome.wustl.edu	37	4	85762417	85762417	+	Splice_Site	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:85762417C>A	ENST00000295888.4	-	6	712		c.e6-1		WDFY3_ENST00000322366.6_Splice_Site	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3						aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTGCAGCCTCTATAAAACCA	0.388																																						dbGAP											0													48.0	51.0	50.0					4																	85762417		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.305-1G>T	4.37:g.85762417C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Splice_Site	SNP	-	e3-1	ENST00000295888.4	37	c.305-1	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280872	0.80692	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514071	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDFY3	85981441	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	7.603000	0.82811	2.894000	0.99253	0.591000	0.81541	.	WDFY3	-	-	ENSG00000163625		0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	81	0.00	0	C	NM_014991	Intron	85762417	85762417	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	splice_site	72	37.93	44	SNP	1.000	A
WRN	7486	genome.wustl.edu	37	8	30982427	30982427	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr8:30982427C>T	ENST00000298139.5	+	23	2985	c.2736C>T	c.(2734-2736)atC>atT	p.I912I		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	912			I -> S (in dbSNP:rs11574323). {ECO:0000269|Ref.4}.		aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGGGTAGAATCATCTTGTCTC	0.313			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	dbGAP	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0													67.0	75.0	72.0					8																	30982427		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2736C>T	8.37:g.30982427C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.I912	ENST00000298139.5	37	c.2736	CCDS6082.1	8																																																																																			WRN	-	tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000165392		0.313	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	178	0.56	1	C			30982427	30982427	+1	no_errors	ENST00000298139	ensembl	human	known	69_37n	silent	189	32.26	90	SNP	1.000	T
WRN	7486	genome.wustl.edu	37	8	30982427	30982427	+	Silent	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr8:30982427C>T	ENST00000298139.5	+	23	2985	c.2736C>T	c.(2734-2736)atC>atT	p.I912I		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	912			I -> S (in dbSNP:rs11574323). {ECO:0000269|Ref.4}.		aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGGGTAGAATCATCTTGTCTC	0.313			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	dbGAP	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0													67.0	75.0	72.0					8																	30982427		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2736C>T	8.37:g.30982427C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.I912	ENST00000298139.5	37	c.2736	CCDS6082.1	8																																																																																			WRN	-	tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000165392		0.313	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	143	0.00	0	C			30982427	30982427	+1	no_errors	ENST00000298139	ensembl	human	known	69_37n	silent	189	32.26	90	SNP	1.000	T
ZFYVE26	23503	genome.wustl.edu	37	14	68229412	68229412	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr14:68229412C>T	ENST00000347230.4	-	33	6274	c.6136G>A	c.(6136-6138)Gag>Aag	p.E2046K	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E2046K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2046					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGTAGTACTCGGCTTCCAAA	0.488																																						dbGAP											0													117.0	91.0	100.0					14																	68229412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6136G>A	14.37:g.68229412C>T	ENSP00000251119:p.Glu2046Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E2046K	ENST00000347230.4	37	c.6136	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.871764	0.97049	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.52057	0.84;0.68	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.72036	0.3411	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.74197	-0.3743	10	0.87932	D	0	-19.9187	19.9522	0.97203	0.0:1.0:0.0:0.0	.	2046;2046	G3V2D8;Q68DK2	.;ZFY26_HUMAN	K	2046;2025;2046	ENSP00000251119:E2046K;ENSP00000450603:E2046K	ENSP00000251119:E2046K	E	-	1	0	ZFYVE26	67299165	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.725000	0.93324	0.655000	0.94253	GAG	ZFYVE26	-	NULL	ENSG00000072121		0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	133	0.00	0	C	NM_015346		68229412	68229412	-1	no_errors	ENST00000347230	ensembl	human	known	69_37n	missense	86	33.33	43	SNP	1.000	T
ZFYVE26	23503	genome.wustl.edu	37	14	68229412	68229412	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr14:68229412C>T	ENST00000347230.4	-	33	6274	c.6136G>A	c.(6136-6138)Gag>Aag	p.E2046K	ZFYVE26_ENST00000557306.1_5'Flank|ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E2046K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2046					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGTAGTACTCGGCTTCCAAA	0.488																																						dbGAP											0													117.0	91.0	100.0					14																	68229412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6136G>A	14.37:g.68229412C>T	ENSP00000251119:p.Glu2046Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E2046K	ENST00000347230.4	37	c.6136	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.871764	0.97049	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.52057	0.84;0.68	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.72036	0.3411	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.74197	-0.3743	10	0.87932	D	0	-19.9187	19.9522	0.97203	0.0:1.0:0.0:0.0	.	2046;2046	G3V2D8;Q68DK2	.;ZFY26_HUMAN	K	2046;2025;2046	ENSP00000251119:E2046K;ENSP00000450603:E2046K	ENSP00000251119:E2046K	E	-	1	0	ZFYVE26	67299165	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.725000	0.93324	0.655000	0.94253	GAG	ZFYVE26	-	NULL	ENSG00000072121		0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	56	0.00	0	C	NM_015346		68229412	68229412	-1	no_errors	ENST00000347230	ensembl	human	known	69_37n	missense	86	33.33	43	SNP	1.000	T
ZNF286B	729288	genome.wustl.edu	37	17	18566541	18566541	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr17:18566541C>T	ENST00000545289.1	-	5	528	c.278G>A	c.(277-279)aGa>aAa	p.R93K	ZNF286B_ENST00000285274.5_Splice_Site	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	93					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)			endometrium(1)|lung(1)	2						AAAGGCAGTTCTGTAATAGGT	0.413																																						dbGAP											0													26.0	24.0	25.0					17																	18566541		692	1590	2282	-	-	-	SO:0001583	missense	0				CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.278G>A	17.37:g.18566541C>T	ENSP00000461413:p.Arg93Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e3-1	ENST00000545289.1	37	c.127-1	CCDS58523.1	17																																																																																			ZNF286B	-	-	ENSG00000249459		0.413	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286B	HGNC	protein_coding		115	0.00	0	C	XM_001723047		18566541	18566541	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000285274	ensembl	human	putative	69_37n	splice_site	68	25.27	23	SNP	0.843	T
ZNF286B	729288	genome.wustl.edu	37	17	18566541	18566541	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr17:18566541C>T	ENST00000545289.1	-	5	528	c.278G>A	c.(277-279)aGa>aAa	p.R93K	ZNF286B_ENST00000285274.5_Splice_Site	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	93					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)			endometrium(1)|lung(1)	2						AAAGGCAGTTCTGTAATAGGT	0.413																																						dbGAP											0													26.0	24.0	25.0					17																	18566541		692	1590	2282	-	-	-	SO:0001583	missense	0				CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.278G>A	17.37:g.18566541C>T	ENSP00000461413:p.Arg93Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e3-1	ENST00000545289.1	37	c.127-1	CCDS58523.1	17																																																																																			ZNF286B	-	-	ENSG00000249459		0.413	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286B	HGNC	protein_coding		59	0.00	0	C	XM_001723047		18566541	18566541	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000285274	ensembl	human	putative	69_37n	splice_site	68	25.27	23	SNP	0.843	T
ZNF337	26152	genome.wustl.edu	37	20	25656844	25656844	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr20:25656844C>A	ENST00000376436.1	-	4	1619	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.K360N|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_Missense_Mutation_p.K328N|RP4-694B14.5_ENST00000439498.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAAGGTGTGACTTATTGCTAA	0.483																																						dbGAP											0													93.0	80.0	84.0					20																	25656844		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1080G>T	20.37:g.25656844C>A	ENSP00000365619:p.Lys360Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSM2|Q9Y3Y5	Missense_Mutation	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.K360N	ENST00000376436.1	37	c.1080	CCDS13174.1	20	.	.	.	.	.	.	.	.	.	.	.	13.52	2.261673	0.39995	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.13778	2.56;2.56;2.56	1.3	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08179	0.0204	L	0.35542	1.07	0.09310	N	1	B;B	0.25743	0.133;0.133	B;B	0.20384	0.029;0.029	T	0.38045	-0.9679	9	0.25751	T	0.34	.	4.6603	0.12639	0.2419:0.5201:0.238:0.0	.	328;360	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	N	360;360;360;328	ENSP00000365619:K360N;ENSP00000252979:K360N;ENSP00000442181:K328N	ENSP00000252979:K360N	K	-	3	2	ZNF337	25604844	0.000000	0.05858	0.002000	0.10522	0.975000	0.68041	-3.612000	0.00415	-0.380000	0.07894	0.306000	0.20318	AAG	ZNF337	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130684		0.483	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF337	HGNC	protein_coding	OTTHUMT00000078454.1	290	0.00	0	C			25656844	25656844	-1	no_errors	ENST00000252979	ensembl	human	known	69_37n	missense	221	33.23	110	SNP	0.000	A
ZNF337	26152	genome.wustl.edu	37	20	25656844	25656844	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr20:25656844C>A	ENST00000376436.1	-	4	1619	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.K360N|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_Missense_Mutation_p.K328N|RP4-694B14.5_ENST00000439498.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAAGGTGTGACTTATTGCTAA	0.483																																						dbGAP											0													93.0	80.0	84.0					20																	25656844		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1080G>T	20.37:g.25656844C>A	ENSP00000365619:p.Lys360Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSM2|Q9Y3Y5	Missense_Mutation	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.K360N	ENST00000376436.1	37	c.1080	CCDS13174.1	20	.	.	.	.	.	.	.	.	.	.	.	13.52	2.261673	0.39995	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.13778	2.56;2.56;2.56	1.3	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08179	0.0204	L	0.35542	1.07	0.09310	N	1	B;B	0.25743	0.133;0.133	B;B	0.20384	0.029;0.029	T	0.38045	-0.9679	9	0.25751	T	0.34	.	4.6603	0.12639	0.2419:0.5201:0.238:0.0	.	328;360	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	N	360;360;360;328	ENSP00000365619:K360N;ENSP00000252979:K360N;ENSP00000442181:K328N	ENSP00000252979:K360N	K	-	3	2	ZNF337	25604844	0.000000	0.05858	0.002000	0.10522	0.975000	0.68041	-3.612000	0.00415	-0.380000	0.07894	0.306000	0.20318	AAG	ZNF337	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130684		0.483	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF337	HGNC	protein_coding	OTTHUMT00000078454.1	338	0.00	0	C			25656844	25656844	-1	no_errors	ENST00000252979	ensembl	human	known	69_37n	missense	221	33.23	110	SNP	0.000	A
ZNF439	90594	genome.wustl.edu	37	19	11978285	11978285	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:11978285C>T	ENST00000304030.2	+	3	601	c.401C>T	c.(400-402)tCt>tTt	p.S134F	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_5'UTR	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GGTAACTCATCTTCTAATATG	0.433																																						dbGAP											0													207.0	195.0	199.0					19																	11978285		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.401C>T	19.37:g.11978285C>T	ENSP00000305077:p.Ser134Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYZ7|Q96SU1	Missense_Mutation	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.S134F	ENST00000304030.2	37	c.401	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	c	12.78	2.039598	0.35989	.	.	ENSG00000171291	ENST00000304030	T	0.08193	3.12	0.457	0.457	0.16661	.	.	.	.	.	T	0.22282	0.0537	M	0.72624	2.21	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.04737	-1.0930	9	0.59425	D	0.04	.	6.707	0.23257	0.0:0.9998:0.0:2.0E-4	.	134	Q8NDP4	ZN439_HUMAN	F	134	ENSP00000305077:S134F	ENSP00000305077:S134F	S	+	2	0	ZNF439	11839285	0.001000	0.12720	0.011000	0.14972	0.106000	0.19336	0.410000	0.21098	0.484000	0.27630	0.194000	0.17425	TCT	ZNF439	-	NULL	ENSG00000171291		0.433	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	729	0.00	0	C			11978285	11978285	+1	no_errors	ENST00000304030	ensembl	human	known	69_37n	missense	382	31.12	173	SNP	0.053	T
ZNF439	90594	genome.wustl.edu	37	19	11978285	11978285	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:11978285C>T	ENST00000304030.2	+	3	601	c.401C>T	c.(400-402)tCt>tTt	p.S134F	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_5'UTR	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GGTAACTCATCTTCTAATATG	0.433																																						dbGAP											0													207.0	195.0	199.0					19																	11978285		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.401C>T	19.37:g.11978285C>T	ENSP00000305077:p.Ser134Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYZ7|Q96SU1	Missense_Mutation	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.S134F	ENST00000304030.2	37	c.401	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	c	12.78	2.039598	0.35989	.	.	ENSG00000171291	ENST00000304030	T	0.08193	3.12	0.457	0.457	0.16661	.	.	.	.	.	T	0.22282	0.0537	M	0.72624	2.21	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.04737	-1.0930	9	0.59425	D	0.04	.	6.707	0.23257	0.0:0.9998:0.0:2.0E-4	.	134	Q8NDP4	ZN439_HUMAN	F	134	ENSP00000305077:S134F	ENSP00000305077:S134F	S	+	2	0	ZNF439	11839285	0.001000	0.12720	0.011000	0.14972	0.106000	0.19336	0.410000	0.21098	0.484000	0.27630	0.194000	0.17425	TCT	ZNF439	-	NULL	ENSG00000171291		0.433	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	349	0.00	0	C			11978285	11978285	+1	no_errors	ENST00000304030	ensembl	human	known	69_37n	missense	382	31.12	173	SNP	0.053	T
ZNF554	115196	genome.wustl.edu	37	19	2832427	2832427	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:2832427C>A	ENST00000317243.5	+	4	578	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	ZNF554_ENST00000591265.1_Missense_Mutation_p.S127Y	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	127	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCTTCTTCCCACTTGGAG	0.488																																						dbGAP											0													126.0	126.0	126.0					19																	2832427		1885	4109	5994	-	-	-	SO:0001583	missense	0			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.380C>A	19.37:g.2832427C>A	ENSP00000321132:p.Ser127Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAT3|Q9BWN3	Missense_Mutation	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.S127Y	ENST00000317243.5	37	c.380	CCDS42462.1	19	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619395	0.28801	.	.	ENSG00000172006	ENST00000317243	T	0.08458	3.09	2.66	0.284	0.15701	Krueppel-associated box (1);	.	.	.	.	T	0.06600	0.0169	L	0.37561	1.115	0.09310	N	1	B	0.21147	0.052	B	0.19666	0.026	T	0.36939	-0.9727	9	0.49607	T	0.09	.	4.6157	0.12424	0.0:0.378:0.0:0.622	.	127	Q86TJ5	ZN554_HUMAN	Y	127	ENSP00000321132:S127Y	ENSP00000321132:S127Y	S	+	2	0	ZNF554	2783427	0.000000	0.05858	0.235000	0.24058	0.254000	0.26022	-0.986000	0.03747	-0.218000	0.10018	-0.466000	0.05196	TCC	ZNF554	-	pfscan_Krueppel-associated_box	ENSG00000172006		0.488	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF554	HGNC	protein_coding	OTTHUMT00000451598.3	279	0.00	0	C	NM_152303		2832427	2832427	+1	no_errors	ENST00000317243	ensembl	human	known	69_37n	missense	127	28.25	50	SNP	0.024	A
ZNF554	115196	genome.wustl.edu	37	19	2832427	2832427	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:2832427C>A	ENST00000317243.5	+	4	578	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	ZNF554_ENST00000591265.1_Missense_Mutation_p.S127Y	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	127	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCTTCTTCCCACTTGGAG	0.488																																						dbGAP											0													126.0	126.0	126.0					19																	2832427		1885	4109	5994	-	-	-	SO:0001583	missense	0			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.380C>A	19.37:g.2832427C>A	ENSP00000321132:p.Ser127Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAT3|Q9BWN3	Missense_Mutation	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.S127Y	ENST00000317243.5	37	c.380	CCDS42462.1	19	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619395	0.28801	.	.	ENSG00000172006	ENST00000317243	T	0.08458	3.09	2.66	0.284	0.15701	Krueppel-associated box (1);	.	.	.	.	T	0.06600	0.0169	L	0.37561	1.115	0.09310	N	1	B	0.21147	0.052	B	0.19666	0.026	T	0.36939	-0.9727	9	0.49607	T	0.09	.	4.6157	0.12424	0.0:0.378:0.0:0.622	.	127	Q86TJ5	ZN554_HUMAN	Y	127	ENSP00000321132:S127Y	ENSP00000321132:S127Y	S	+	2	0	ZNF554	2783427	0.000000	0.05858	0.235000	0.24058	0.254000	0.26022	-0.986000	0.03747	-0.218000	0.10018	-0.466000	0.05196	TCC	ZNF554	-	pfscan_Krueppel-associated_box	ENSG00000172006		0.488	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF554	HGNC	protein_coding	OTTHUMT00000451598.3	87	0.00	0	C	NM_152303		2832427	2832427	+1	no_errors	ENST00000317243	ensembl	human	known	69_37n	missense	127	28.25	50	SNP	0.024	A
ZNF492	57615	genome.wustl.edu	37	19	22847268	22847268	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:22847268C>G	ENST00000456783.2	+	4	1041	c.797C>G	c.(796-798)tCa>tGa	p.S266*	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGCCAGTCCTCAACCCTTACT	0.403																																						dbGAP											0													2.0	3.0	3.0					19																	22847268		998	2377	3375	-	-	-	SO:0001587	stop_gained	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.797C>G	19.37:g.22847268C>G	ENSP00000413660:p.Ser266*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08EI7|Q08EI8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S266*	ENST00000456783.2	37	c.797	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	16.45	3.126631	0.56721	.	.	ENSG00000229676	ENST00000456783	.	.	.	1.3	1.3	0.21679	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	4.7177	0.12903	0.0:0.7822:0.0:0.2177	.	.	.	.	X	266	.	ENSP00000413660:S266X	S	+	2	0	ZNF492	22639108	0.000000	0.05858	0.004000	0.12327	0.032000	0.12392	0.036000	0.13819	0.492000	0.27815	0.274000	0.19336	TCA	ZNF492	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000229676		0.403	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	177	0.00	0	C	NM_020855		22847268	22847268	+1	no_errors	ENST00000456783	ensembl	human	known	69_37n	nonsense	120	29.41	50	SNP	0.000	G
ZNF492	57615	genome.wustl.edu	37	19	22847268	22847268	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:22847268C>G	ENST00000456783.2	+	4	1041	c.797C>G	c.(796-798)tCa>tGa	p.S266*	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGCCAGTCCTCAACCCTTACT	0.403																																						dbGAP											0													2.0	3.0	3.0					19																	22847268		998	2377	3375	-	-	-	SO:0001587	stop_gained	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.797C>G	19.37:g.22847268C>G	ENSP00000413660:p.Ser266*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08EI7|Q08EI8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S266*	ENST00000456783.2	37	c.797	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	16.45	3.126631	0.56721	.	.	ENSG00000229676	ENST00000456783	.	.	.	1.3	1.3	0.21679	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	4.7177	0.12903	0.0:0.7822:0.0:0.2177	.	.	.	.	X	266	.	ENSP00000413660:S266X	S	+	2	0	ZNF492	22639108	0.000000	0.05858	0.004000	0.12327	0.032000	0.12392	0.036000	0.13819	0.492000	0.27815	0.274000	0.19336	TCA	ZNF492	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000229676		0.403	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	136	0.00	0	C	NM_020855		22847268	22847268	+1	no_errors	ENST00000456783	ensembl	human	known	69_37n	nonsense	120	29.41	50	SNP	0.000	G
ZNF592	9640	genome.wustl.edu	37	15	85326354	85326354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr15:85326354G>T	ENST00000560079.2	+	4	736	c.448G>T	c.(448-450)Gag>Tag	p.E150*	ZNF592_ENST00000299927.3_Nonsense_Mutation_p.E150*	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	150					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCAGAACCTGAGGATCCCAT	0.547																																						dbGAP											0													128.0	137.0	134.0					15																	85326354		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.448G>T	15.37:g.85326354G>T	ENSP00000452877:p.Glu150*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1T2|Q504Y9	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E150*	ENST00000560079.2	37	c.448	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.398410	0.96030	.	.	ENSG00000166716	ENST00000299927	.	.	.	6.06	6.06	0.98353	.	0.182328	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-15.9734	18.1147	0.89549	0.0:0.0:1.0:0.0	.	.	.	.	X	150	.	ENSP00000299927:E150X	E	+	1	0	ZNF592	83127358	1.000000	0.71417	0.956000	0.39512	0.804000	0.45430	9.290000	0.96065	2.882000	0.98803	0.655000	0.94253	GAG	ZNF592	-	NULL	ENSG00000166716		0.547	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	295	0.00	0	G	NM_014630		85326354	85326354	+1	no_errors	ENST00000299927	ensembl	human	known	69_37n	nonsense	210	29.77	89	SNP	1.000	T
ZNF592	9640	genome.wustl.edu	37	15	85326354	85326354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr15:85326354G>T	ENST00000560079.2	+	4	736	c.448G>T	c.(448-450)Gag>Tag	p.E150*	ZNF592_ENST00000299927.3_Nonsense_Mutation_p.E150*	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	150					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCAGAACCTGAGGATCCCAT	0.547																																						dbGAP											0													128.0	137.0	134.0					15																	85326354		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.448G>T	15.37:g.85326354G>T	ENSP00000452877:p.Glu150*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1T2|Q504Y9	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E150*	ENST00000560079.2	37	c.448	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.398410	0.96030	.	.	ENSG00000166716	ENST00000299927	.	.	.	6.06	6.06	0.98353	.	0.182328	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-15.9734	18.1147	0.89549	0.0:0.0:1.0:0.0	.	.	.	.	X	150	.	ENSP00000299927:E150X	E	+	1	0	ZNF592	83127358	1.000000	0.71417	0.956000	0.39512	0.804000	0.45430	9.290000	0.96065	2.882000	0.98803	0.655000	0.94253	GAG	ZNF592	-	NULL	ENSG00000166716		0.547	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	248	0.00	0	G	NM_014630		85326354	85326354	+1	no_errors	ENST00000299927	ensembl	human	known	69_37n	nonsense	210	29.77	89	SNP	1.000	T
ZNF721	170960	genome.wustl.edu	37	4	437193	437193	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr4:437193G>C	ENST00000338977.5	-	2	1075	c.1027C>G	c.(1027-1029)Cat>Gat	p.H343D	ZNF721_ENST00000511833.2_Missense_Mutation_p.H355D|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCTCCAGTATGAATTCTCCTA	0.428																																						dbGAP											0													93.0	101.0	98.0					4																	437193		2154	4279	6433	-	-	-	SO:0001583	missense	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1027C>G	4.37:g.437193G>C	ENSP00000340524:p.His343Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H355D	ENST00000338977.5	37	c.1063		4	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472729	0.43942	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.67698	-0.28;-0.28	0.71	0.71	0.18157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82421	0.5033	M	0.93550	3.43	0.35177	D	0.772141	D;P;P	0.53462	0.96;0.891;0.868	D;D;D	0.68943	0.961;0.961;0.934	D	0.84593	0.0668	9	0.87932	D	0	.	7.2684	0.26242	1.0E-4:0.0:0.9999:0.0	.	343;355;355	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	D	343;355	ENSP00000340524:H343D;ENSP00000428878:H355D	ENSP00000340524:H343D	H	-	1	0	ZNF721	427193	0.996000	0.38824	0.171000	0.22900	0.039000	0.13416	4.844000	0.62846	0.677000	0.31305	0.194000	0.17425	CAT	ZNF721	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182903		0.428	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	367	0.00	0	G	NM_133474		437193	437193	-1	no_errors	ENST00000511833	ensembl	human	known	69_37n	missense	220	29.49	92	SNP	0.998	C
ZNF721	170960	genome.wustl.edu	37	4	437193	437193	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr4:437193G>C	ENST00000338977.5	-	2	1075	c.1027C>G	c.(1027-1029)Cat>Gat	p.H343D	ZNF721_ENST00000511833.2_Missense_Mutation_p.H355D|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCTCCAGTATGAATTCTCCTA	0.428																																						dbGAP											0													93.0	101.0	98.0					4																	437193		2154	4279	6433	-	-	-	SO:0001583	missense	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1027C>G	4.37:g.437193G>C	ENSP00000340524:p.His343Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H355D	ENST00000338977.5	37	c.1063		4	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472729	0.43942	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.67698	-0.28;-0.28	0.71	0.71	0.18157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82421	0.5033	M	0.93550	3.43	0.35177	D	0.772141	D;P;P	0.53462	0.96;0.891;0.868	D;D;D	0.68943	0.961;0.961;0.934	D	0.84593	0.0668	9	0.87932	D	0	.	7.2684	0.26242	1.0E-4:0.0:0.9999:0.0	.	343;355;355	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	D	343;355	ENSP00000340524:H343D;ENSP00000428878:H355D	ENSP00000340524:H343D	H	-	1	0	ZNF721	427193	0.996000	0.38824	0.171000	0.22900	0.039000	0.13416	4.844000	0.62846	0.677000	0.31305	0.194000	0.17425	CAT	ZNF721	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182903		0.428	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	200	0.50	1	G	NM_133474		437193	437193	-1	no_errors	ENST00000511833	ensembl	human	known	69_37n	missense	220	29.49	92	SNP	0.998	C
ZNF780A	284323	genome.wustl.edu	37	19	40581547	40581547	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr19:40581547G>C	ENST00000595687.2	-	6	1011	c.802C>G	c.(802-804)Cag>Gag	p.Q268E	ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q269E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q268E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q234E|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q269E	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	268					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(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAATACTCTGATGTTGAACA	0.393																																						dbGAP											0													167.0	170.0	169.0					19																	40581547		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.802C>G	19.37:g.40581547G>C	ENSP00000472189:p.Gln268Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PB48|Q6ZN87	Missense_Mutation	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.Q269E	ENST00000595687.2	37	c.805	CCDS33026.2	19	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478952	0.26511	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.21191	2.02;2.02	1.92	-1.3	0.09259	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13670	0.0331	L	0.31664	0.95	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.25502	-1.0130	9	0.51188	T	0.08	.	7.1153	0.25412	0.0:0.0:0.5101:0.4899	.	269;268	E9PB48;O75290	.;Z780A_HUMAN	E	268;269;268	ENSP00000400997:Q269E;ENSP00000341507:Q268E	ENSP00000341507:Q268E	Q	-	1	0	ZNF780A	45273387	0.000000	0.05858	0.001000	0.08648	0.779000	0.44077	-0.590000	0.05760	-0.437000	0.07243	0.305000	0.20034	CAG	ZNF780A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197782		0.393	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	524	0.00	0	G	NM_001010880		40581547	40581547	-1	no_errors	ENST00000455521	ensembl	human	known	69_37n	missense	522	29.99	224	SNP	0.009	C
ZNF780A	284323	genome.wustl.edu	37	19	40581547	40581547	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr19:40581547G>C	ENST00000595687.2	-	6	1011	c.802C>G	c.(802-804)Cag>Gag	p.Q268E	ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q269E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q268E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q234E|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q269E	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	268					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(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAATACTCTGATGTTGAACA	0.393																																						dbGAP											0													167.0	170.0	169.0					19																	40581547		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.802C>G	19.37:g.40581547G>C	ENSP00000472189:p.Gln268Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PB48|Q6ZN87	Missense_Mutation	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.Q269E	ENST00000595687.2	37	c.805	CCDS33026.2	19	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478952	0.26511	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.21191	2.02;2.02	1.92	-1.3	0.09259	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13670	0.0331	L	0.31664	0.95	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.25502	-1.0130	9	0.51188	T	0.08	.	7.1153	0.25412	0.0:0.0:0.5101:0.4899	.	269;268	E9PB48;O75290	.;Z780A_HUMAN	E	268;269;268	ENSP00000400997:Q269E;ENSP00000341507:Q268E	ENSP00000341507:Q268E	Q	-	1	0	ZNF780A	45273387	0.000000	0.05858	0.001000	0.08648	0.779000	0.44077	-0.590000	0.05760	-0.437000	0.07243	0.305000	0.20034	CAG	ZNF780A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197782		0.393	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	550	0.00	0	G	NM_001010880		40581547	40581547	-1	no_errors	ENST00000455521	ensembl	human	known	69_37n	missense	522	29.99	224	SNP	0.009	C
ZXDC	79364	genome.wustl.edu	37	3	126185056	126185056	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	dfd32478-8fa8-42a1-b5f7-329c02aa8f87	g.chr3:126185056G>C	ENST00000389709.3	-	5	1436	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	ZXDC_ENST00000336332.5_Silent_p.L461L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	461					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TGGAGGTGAAGAGTCTGTTGC	0.572																																						dbGAP											0													87.0	95.0	92.0					3																	126185056		2155	4279	6434	-	-	-	SO:0001819	synonymous_variant	0			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1383C>G	3.37:g.126185056G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L169V	ENST00000389709.3	37	c.505	CCDS43145.1	3																																																																																			ZXDC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000070476		0.572	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZXDC	HGNC	protein_coding	OTTHUMT00000370327.2	101	0.00	0	G	NM_025112		126185056	126185056	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000515545	ensembl	human	known	69_37n	missense	33	44.07	26	SNP	1.000	C
ZXDC	79364	genome.wustl.edu	37	3	126185056	126185056	+	Silent	SNP	G	G	C			TCGA-BH-A0DZ-01A-11W-A019-09	TCGA-BH-A0DZ-11A-22W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d6418b7f-96b4-424a-8737-d382ece37afe	4144f1ac-bfb3-48f2-bb03-1e82640b5a1f	g.chr3:126185056G>C	ENST00000389709.3	-	5	1436	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	ZXDC_ENST00000336332.5_Silent_p.L461L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	461					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TGGAGGTGAAGAGTCTGTTGC	0.572																																						dbGAP											0													87.0	95.0	92.0					3																	126185056		2155	4279	6434	-	-	-	SO:0001819	synonymous_variant	0			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1383C>G	3.37:g.126185056G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L169V	ENST00000389709.3	37	c.505	CCDS43145.1	3																																																																																			ZXDC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000070476		0.572	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZXDC	HGNC	protein_coding	OTTHUMT00000370327.2	54	0.00	0	G	NM_025112		126185056	126185056	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000515545	ensembl	human	known	69_37n	missense	33	44.07	26	SNP	1.000	C
