#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACY1	95	genome.wustl.edu	37	3	52019910	52019910	+	Missense_Mutation	SNP	G	G	C	rs201048015		TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr3:52019910G>C	ENST00000404366.2	+	5	453	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.E204Q|ACY1_ENST00000458031.2_Missense_Mutation_p.E193Q|ACY1_ENST00000476351.1_Missense_Mutation_p.E68Q|ABHD14B_ENST00000483233.1_5'Flank|ACY1_ENST00000476854.1_Missense_Mutation_p.E103Q|ACY1_ENST00000494103.1_Missense_Mutation_p.E103Q|ACY1_ENST00000468068.1_3'UTR	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	103					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	CAAGGATTCTGAGGGCTACAT	0.552																																						dbGAP											0													100.0	76.0	84.0					3																	52019910		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.307G>C	3.37:g.52019910G>C	ENSP00000384296:p.Glu103Gln		C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase	p.E193Q	ENST00000404366.2	37	c.577	CCDS2844.1	3	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370147	0.42003	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366;ENST00000469863	D;D;D;D;T;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;3.06;-1.68;-1.68	4.97	3.12	0.35913	.	0.455522	0.24176	N	0.040849	T	0.72195	0.3430	L	0.31664	0.95	0.30837	N	0.736046	B;B;B	0.14805	0.002;0.011;0.002	B;B;B	0.14578	0.006;0.011;0.006	T	0.67309	-0.5703	10	0.33141	T	0.24	-10.1328	10.939	0.47262	0.0898:0.1858:0.7244:0.0	.	103;193;103	B4DPC3;B4DNW0;Q03154	.;.;ACY1_HUMAN	Q	193;204;103;103;68;103;103;112	ENSP00000390557:E193Q;ENSP00000420487:E204Q;ENSP00000419262:E103Q;ENSP00000417056:E68Q;ENSP00000417618:E103Q;ENSP00000384296:E103Q;ENSP00000419830:E112Q	ENSP00000384296:E103Q	E	+	1	0	ACY1;RP11-155D18.11	51994950	0.999000	0.42202	0.944000	0.38274	0.998000	0.95712	2.832000	0.48152	1.092000	0.41356	0.558000	0.71614	GAG	ACY1	-	pfam_Peptidase_M20,tigrfam_N-acyl_aa_amidohydrolase	ENSG00000243989		0.552	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY1	HGNC	protein_coding	OTTHUMT00000349657.1	66	0.00	0	G	NM_000666		52019910	52019910	+1	no_errors	ENST00000458031	ensembl	human	known	69_37n	missense	108	23.94	34	SNP	0.543	C
AMPD1	270	genome.wustl.edu	37	1	115226908	115226908	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr1:115226908C>G	ENST00000520113.2	-	5	573	c.558G>C	c.(556-558)aaG>aaC	p.K186N	AMPD1_ENST00000369538.3_Missense_Mutation_p.K182N|AMPD1_ENST00000353928.6_Missense_Mutation_p.K153N			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	186					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCTGAAACGACTTCTGCATGT	0.413																																						dbGAP											0													109.0	100.0	103.0					1																	115226908		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.558G>C	1.37:g.115226908C>G	ENSP00000430075:p.Lys186Asn		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.K186N	ENST00000520113.2	37	c.558	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	C	7.596	0.671828	0.14776	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.41758	0.99;0.99;0.99	5.72	3.87	0.44632	.	0.485483	0.23459	N	0.047957	T	0.10680	0.0261	N	0.12569	0.235	0.39195	D	0.96303	B;B	0.29341	0.242;0.006	B;B	0.25291	0.059;0.004	T	0.06534	-1.0821	10	0.36615	T	0.2	-6.6907	9.8499	0.41051	0.0:0.7919:0.0:0.2081	.	182;153	Q5TF02;P23109	.;AMPD1_HUMAN	N	186;182;153	ENSP00000430075:K186N;ENSP00000358551:K182N;ENSP00000316520:K153N	ENSP00000316520:K153N	K	-	3	2	AMPD1	115028431	0.912000	0.30974	0.995000	0.50966	0.025000	0.11179	0.084000	0.14891	0.787000	0.33731	-0.755000	0.03482	AAG	AMPD1	-	pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000116748		0.413	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	122	0.00	0	C			115226908	115226908	-1	no_errors	ENST00000520113	ensembl	human	known	69_37n	missense	112	15.79	21	SNP	0.999	G
ANKRD31	256006	genome.wustl.edu	37	5	74364415	74364415	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr5:74364415C>T	ENST00000274361.3	-	25	5742	c.5551G>A	c.(5551-5553)Gaa>Aaa	p.E1851K	ANKRD31_ENST00000506364.2_Missense_Mutation_p.E1908K|ANKRD31_ENST00000504022.1_5'UTR	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	1851										endometrium(1)|kidney(4)	5						GGGAGAAATTCTTGATCACTG	0.343																																						dbGAP											0													197.0	168.0	177.0					5																	74364415		692	1591	2283	-	-	-	SO:0001583	missense	0			AK097510	CCDS47233.1	5q13.3	2013-01-10			ENSG00000145700	ENSG00000145700		"""Ankyrin repeat domain containing"""	26853	protein-coding gene	gene with protein product							Standard	NM_001164443		Approved	FLJ40191	uc003kdo.2	Q8N7Z5	OTTHUMG00000162649	ENST00000274361.3:c.5551G>A	5.37:g.74364415C>T	ENSP00000274361:p.Glu1851Lys			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1851K	ENST00000274361.3	37	c.5551		5	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187561	0.78789	.	.	ENSG00000145700	ENST00000510320;ENST00000274361	T;T	0.55930	0.49;0.49	5.92	5.92	0.95590	.	.	.	.	.	T	0.56156	0.1966	L	0.32530	0.975	0.37328	D	0.90986	.	.	.	.	.	.	T	0.62882	-0.6760	7	0.87932	D	0	.	15.8271	0.78718	0.0:1.0:0.0:0.0	.	.	.	.	K	170;1851	ENSP00000427667:E170K;ENSP00000274361:E1851K	ENSP00000274361:E1851K	E	-	1	0	ANKRD31	74400171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.210000	0.58500	2.794000	0.96219	0.650000	0.86243	GAA	ANKRD31	-	NULL	ENSG00000145700		0.343	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	ANKRD31	HGNC	protein_coding		279	0.00	0	C	NM_001164443		74364415	74364415	-1	no_errors	ENST00000274361	ensembl	human	known	69_37n	missense	307	52.48	339	SNP	1.000	T
ARFGEF1	10565	genome.wustl.edu	37	8	68178346	68178346	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr8:68178346G>A	ENST00000262215.3	-	14	2407	c.2018C>T	c.(2017-2019)tCa>tTa	p.S673L	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S127L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	673					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TATTCCTGATGATGATGTTGA	0.398																																						dbGAP											0													173.0	160.0	164.0					8																	68178346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2018C>T	8.37:g.68178346G>A	ENSP00000262215:p.Ser673Leu		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.S673L	ENST00000262215.3	37	c.2018	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103954	0.76983	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.21932	2.84;1.98	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.74258	2.255	0.80722	D	1	D;B	0.56035	0.974;0.012	P;B	0.50490	0.642;0.022	T	0.21381	-1.0247	10	0.52906	T	0.07	.	19.5844	0.95485	0.0:0.0:1.0:0.0	.	673;127	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	L	127;673	ENSP00000428429:S127L;ENSP00000262215:S673L	ENSP00000262215:S673L	S	-	2	0	ARFGEF1	68340900	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.771000	0.98977	2.638000	0.89438	0.585000	0.79938	TCA	ARFGEF1	-	superfamily_ARM-type_fold	ENSG00000066777		0.398	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	287	0.00	0	G	NM_006421		68178346	68178346	-1	no_errors	ENST00000262215	ensembl	human	known	69_37n	missense	553	16.42	109	SNP	1.000	A
CARD6	84674	genome.wustl.edu	37	5	40843622	40843622	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr5:40843622G>C	ENST00000254691.5	+	2	851	c.652G>C	c.(652-654)Gtt>Ctt	p.V218L	CARD6_ENST00000381677.3_Missense_Mutation_p.V218L	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	218	Asp/Glu-rich.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.V218F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTAGGATCTGTTGACACCCC	0.408																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											64.0	67.0	66.0					5																	40843622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.652G>C	5.37:g.40843622G>C	ENSP00000254691:p.Val218Leu		Q52LR2	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.V218L	ENST00000254691.5	37	c.652	CCDS3935.1	5	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351605	0.24512	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.32272	2.68;1.46	5.23	2.26	0.28386	.	1.646510	0.03575	N	0.229256	T	0.16642	0.0400	N	0.11201	0.11	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.21415	-1.0246	10	0.06757	T	0.87	-0.824	8.044	0.30538	0.0:0.3485:0.4841:0.1674	.	218	Q9BX69	CARD6_HUMAN	L	218	ENSP00000254691:V218L;ENSP00000371093:V218L	ENSP00000254691:V218L	V	+	1	0	CARD6	40879379	0.000000	0.05858	0.000000	0.03702	0.324000	0.28378	-0.082000	0.11304	0.273000	0.22049	0.655000	0.94253	GTT	CARD6	-	NULL	ENSG00000132357		0.408	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3	83	0.00	0	G			40843622	40843622	+1	no_errors	ENST00000254691	ensembl	human	known	69_37n	missense	123	23.60	38	SNP	0.001	C
ATP10B	23120	genome.wustl.edu	37	5	160059363	160059363	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr5:160059363C>G	ENST00000327245.5	-	13	2239	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	465					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|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)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTGGGGTCTCCAGTCGCTTA	0.527																																						dbGAP											0													102.0	98.0	99.0					5																	160059363		1930	4126	6056	-	-	-	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1393G>C	5.37:g.160059363C>G	ENSP00000313600:p.Glu465Gln		Q9H725	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.E465Q	ENST00000327245.5	37	c.1393	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910573	0.72983	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.41400	1.0;1.0	5.63	5.63	0.86233	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.061285	0.64402	D	0.000003	T	0.56529	0.1991	L	0.56769	1.78	0.37193	D	0.904018	D;D	0.63046	0.992;0.976	P;P	0.61477	0.889;0.657	T	0.60271	-0.7296	9	.	.	.	.	13.938	0.64036	0.0:0.9257:0.0:0.0743	.	73;465	Q2YDW8;O94823	.;AT10B_HUMAN	Q	465;73	ENSP00000313600:E465Q;ENSP00000431081:E73Q	.	E	-	1	0	ATP10B	159991941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.343000	0.59348	2.652000	0.90054	0.655000	0.94253	GAG	ATP10B	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000118322		0.527	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	61	0.00	0	C	NM_025153		160059363	160059363	-1	no_errors	ENST00000327245	ensembl	human	known	69_37n	missense	47	32.86	23	SNP	1.000	G
CCNB3	85417	genome.wustl.edu	37	X	50089661	50089662	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chrX:50089661_50089662insA	ENST00000376042.1	+	10	3963_3964	c.3665_3666insA	c.(3664-3669)tcacctfs	p.P1223fs	CCNB3_ENST00000376038.1_Frame_Shift_Ins_p.P119fs|CCNB3_ENST00000276014.7_Frame_Shift_Ins_p.P1223fs|CCNB3_ENST00000348603.2_Frame_Shift_Ins_p.P119fs			Q8WWL7	CCNB3_HUMAN	cyclin B3	1223					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAGCACAACTCACCTCGTGTGG	0.475																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3666dupA	X.37:g.50089662_50089662dupA	ENSP00000365210:p.Pro1223fs		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Frame_Shift_Ins	INS	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.P1223fs	ENST00000376042.1	37	c.3665_3666	CCDS14331.1	X																																																																																			CCNB3	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000147082		0.475	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	104	0.00	0	-			50089661	50089662	+1	no_errors	ENST00000276014	ensembl	human	known	69_37n	frame_shift_ins	189	10.43	22	INS	0.933:0.937	A
CIRBP	1153	genome.wustl.edu	37	19	1272339	1272339	+	Intron	SNP	G	G	A	rs148277498	byFrequency	TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr19:1272339G>A	ENST00000588030.1	+	7	762				CIRBP_ENST00000589710.1_Missense_Mutation_p.R264H|CIRBP_ENST00000587896.1_Missense_Mutation_p.R264H|CIRBP_ENST00000588090.1_Intron|CIRBP_ENST00000589660.1_Intron|CIRBP_ENST00000588230.1_Missense_Mutation_p.R264H|CIRBP_ENST00000587323.1_Missense_Mutation_p.R264H|CIRBP_ENST00000591935.1_Intron|CIRBP_ENST00000586472.1_Intron|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000589235.1_Intron|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000444172.2_Missense_Mutation_p.R211H|CIRBP_ENST00000589686.1_Intron|CIRBP_ENST00000320936.5_Intron|C19orf24_ENST00000409293.4_5'Flank|CIRBP_ENST00000586773.1_Intron|CIRBP_ENST00000413636.2_Missense_Mutation_p.R230H|CIRBP_ENST00000585630.1_Intron			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein						mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		CTCCCCGGCCGCAGGCCGCGC	0.657													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13896	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													60.0	57.0	58.0					19																	1272339		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.503-87G>A	19.37:g.1272339G>A			B3KT17|B4E2X2	Missense_Mutation	SNP	NULL	p.R211H	ENST00000588030.1	37	c.632	CCDS12059.1	19	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.44	1.639890	0.29157	.	.	ENSG00000099622	ENST00000413636;ENST00000444172	T	0.71817	-0.6	3.26	-3.12	0.05282	.	.	.	.	.	T	0.46580	0.1400	.	.	.	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.01281	0.0;0.0	T	0.23368	-1.0190	7	.	.	.	.	4.492	0.11819	0.3238:0.3094:0.3668:0.0	.	230;264	B4E2X2;D6W5Y5	.;.	H	230;211	ENSP00000412831:R230H	.	R	+	2	0	CIRBP	1223339	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	-0.329000	0.07935	-0.235000	0.09767	-0.339000	0.08088	CGC	CIRBP	-	NULL	ENSG00000099622		0.657	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIRBP	HGNC	protein_coding	OTTHUMT00000449969.1	59	0.00	0	G	NM_001280		1272339	1272339	+1	no_errors	ENST00000444172	ensembl	human	known	69_37n	missense	98	16.24	19	SNP	0.000	A
CD33	945	genome.wustl.edu	37	19	51738413	51738413	+	Splice_Site	SNP	G	G	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr19:51738413G>T	ENST00000262262.4	+	5	768	c.747G>T	c.(745-747)ggG>ggT	p.G249G	CD33_ENST00000421133.2_Splice_Site_p.G122G|CD33_ENST00000436584.2_Splice_Site_p.G122G|CD33_ENST00000391796.3_Splice_Site_p.G249G	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	249					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGTCTGCAGGGAAACAAGAGA	0.483																																						dbGAP											0													102.0	91.0	95.0					19																	51738413		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.746-1G>T	19.37:g.51738413G>T			B4E3P8|C9JEN7|F8WAL2|Q8TD24	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.G249	ENST00000262262.4	37	c.747	CCDS33084.1	19																																																																																			CD33	-	NULL	ENSG00000105383		0.483	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD33	HGNC	protein_coding	OTTHUMT00000464199.2	141	0.00	0	G	NM_001772	Silent	51738413	51738413	+1	no_errors	ENST00000262262	ensembl	human	known	69_37n	silent	133	21.30	36	SNP	0.008	T
CSF2RA	1438	genome.wustl.edu	37	X	1407467	1407467	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chrX:1407467T>A	ENST00000381524.3	+	5	461	c.275T>A	c.(274-276)gTc>gAc	p.V92D	CSF2RA_ENST00000355805.2_Missense_Mutation_p.V92D|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V92D|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V92D|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V92D|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V92D|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V92D|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V92D|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V92D			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	92					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)	CATGAAGGAGTCACATTTGAG	0.418																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	dbGAP											0													368.0	339.0	349.0					X																	1407467		2203	4296	6499	-	-	-	SO:0001583	missense	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.275T>A	X.37:g.1407467T>A	ENSP00000370935:p.Val92Asp		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.V92D	ENST00000381524.3	37	c.275	CCDS35191.1	X	.	.	.	.	.	.	.	.	.	.	.	10.84	1.465304	0.26335	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;T;T;D;T;T;D;D	0.94758	-3.2;-3.2;-3.51;-3.2;0.74;1.71;-3.23;0.71;1.01;-3.07;-3.51	1.47	0.28	0.15682	.	0.524933	0.13206	U	0.405548	D	0.95204	0.8445	.	.	.	0.20196	N	0.999927	D;D;D;D;D;D	0.76494	0.999;0.996;0.999;0.994;0.994;0.989	D;P;D;P;P;P	0.71656	0.974;0.806;0.961;0.865;0.865;0.737	D	0.86716	0.1939	9	0.66056	D	0.02	.	2.805	0.05425	0.0:0.3126:0.0:0.6874	.	92;92;92;92;92;92	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	D	92	ENSP00000370940:V92D;ENSP00000416437:V92D;ENSP00000354836:V92D;ENSP00000370935:V92D;ENSP00000410667:V92D;ENSP00000397452:V92D;ENSP00000370920:V92D;ENSP00000348058:V92D;ENSP00000347606:V92D;ENSP00000394227:V92D;ENSP00000370911:V92D	ENSP00000347606:V92D	V	+	2	0	CSF2RA	1367467	0.015000	0.18098	0.027000	0.17364	0.013000	0.08279	-0.091000	0.11146	0.631000	0.30412	0.292000	0.19580	GTC	CSF2RA	-	NULL	ENSG00000198223		0.418	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	268	0.00	0	T			1407467	1407467	+1	no_errors	ENST00000417535	ensembl	human	known	69_37n	missense	367	14.05	60	SNP	0.044	A
CYP2C19	1557	genome.wustl.edu	37	10	96580363	96580363	+	Silent	SNP	C	C	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr10:96580363C>A	ENST00000371321.3	+	6	1012	c.930C>A	c.(928-930)ctC>ctA	p.L310L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	310					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GATATGCTCTCCTTCTCCTGC	0.458																																						dbGAP											0													191.0	172.0	178.0					10																	96580363		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.930C>A	10.37:g.96580363C>A			P33259|Q8WZB1|Q8WZB2|Q9UCD4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L310	ENST00000371321.3	37	c.930	CCDS7436.1	10																																																																																			CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	ENSG00000165841		0.458	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	178	0.00	0	C	NM_000769		96580363	96580363	+1	no_errors	ENST00000371321	ensembl	human	known	69_37n	silent	240	25.31	82	SNP	0.001	A
DDX41	51428	genome.wustl.edu	37	5	176943429	176943429	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr5:176943429C>T	ENST00000507955.1	-	3	681	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	53					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CTTGCGTCTTCGCTGCAGCAG	0.622																																						dbGAP											0													67.0	61.0	63.0					5																	176943429		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.158G>A	5.37:g.176943429C>T	ENSP00000422753:p.Arg53Gln		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R53Q	ENST00000507955.1	37	c.158	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412411	0.42817	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.27402	1.67;1.68	5.53	3.57	0.40892	.	0.324932	0.29594	N	0.011706	T	0.19127	0.0459	L	0.36672	1.1	0.32860	D	0.507812	B	0.15141	0.012	B	0.09377	0.004	T	0.18650	-1.0330	10	0.12430	T	0.62	-2.8367	6.7281	0.23369	0.3738:0.5329:0.0:0.0933	.	53	Q9UJV9	DDX41_HUMAN	Q	71;53	ENSP00000330349:R71Q;ENSP00000422753:R53Q	ENSP00000330349:R71Q	R	-	2	0	DDX41	176876035	1.000000	0.71417	0.987000	0.45799	0.947000	0.59692	6.244000	0.72391	1.334000	0.45468	0.549000	0.68633	CGA	DDX41	-	NULL	ENSG00000183258		0.622	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	43	0.00	0	C	NM_016222		176943429	176943429	-1	no_errors	ENST00000507955	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	T
DTX1	1840	genome.wustl.edu	37	12	113532664	113532664	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr12:113532664T>A	ENST00000257600.3	+	6	1801	c.1298T>A	c.(1297-1299)gTg>gAg	p.V433E	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	433					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						CACAAGGGCGTGCGGCCTGAG	0.652																																						dbGAP											0													51.0	46.0	48.0					12																	113532664		2203	4297	6500	-	-	-	SO:0001583	missense	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.1298T>A	12.37:g.113532664T>A	ENSP00000257600:p.Val433Glu		O60630|Q9BS04	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.V433E	ENST00000257600.3	37	c.1298	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	T	15.24	2.773671	0.49786	.	.	ENSG00000135144	ENST00000257600	T	0.68331	-0.32	4.14	4.14	0.48551	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.150969	0.45361	D	0.000367	T	0.54431	0.1858	L	0.36672	1.1	0.30338	N	0.785969	B	0.30146	0.27	B	0.33121	0.158	T	0.57039	-0.7879	10	0.44086	T	0.13	-3.2053	7.7409	0.28841	0.0:0.1041:0.0:0.8959	.	433	Q86Y01	DTX1_HUMAN	E	433	ENSP00000257600:V433E	ENSP00000257600:V433E	V	+	2	0	DTX1	112017047	1.000000	0.71417	0.600000	0.28864	0.944000	0.59088	4.130000	0.57964	1.508000	0.48769	0.374000	0.22700	GTG	DTX1	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000135144		0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	8	0.00	0	T			113532664	113532664	+1	no_errors	ENST00000257600	ensembl	human	known	69_37n	missense	5	61.54	8	SNP	1.000	A
EPHA7	2045	genome.wustl.edu	37	6	94068126	94068126	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr6:94068126C>A	ENST00000369303.4	-	4	1020	c.836G>T	c.(835-837)tGt>tTt	p.C279F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	279	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCCACGGCCACAGGCTGGGAA	0.378																																						dbGAP											0													59.0	57.0	58.0					6																	94068126		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.836G>T	6.37:g.94068126C>A	ENSP00000358309:p.Cys279Phe		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.C279F	ENST00000369303.4	37	c.836	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659845	0.88154	.	.	ENSG00000135333	ENST00000369303	D	0.86956	-2.19	5.47	5.47	0.80525	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.047040	0.85682	D	0.000000	D	0.93690	0.7984	M	0.85859	2.78	0.80722	D	1	D;D;P	0.60575	0.988;0.969;0.947	D;P;P	0.74348	0.983;0.696;0.737	D	0.94067	0.7332	10	0.72032	D	0.01	.	19.3243	0.94254	0.0:1.0:0.0:0.0	.	279;279;279	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	F	279	ENSP00000358309:C279F	ENSP00000358309:C279F	C	-	2	0	EPHA7	94124847	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.792000	0.85828	2.572000	0.86782	0.655000	0.94253	TGT	EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt	ENSG00000135333		0.378	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	87	0.00	0	C			94068126	94068126	-1	no_errors	ENST00000369303	ensembl	human	known	69_37n	missense	100	25.93	35	SNP	1.000	A
F2RL2	2151	genome.wustl.edu	37	5	75914384	75914384	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr5:75914384C>T	ENST00000296641.4	-	2	351	c.148G>A	c.(148-150)Gag>Aag	p.E50K	F2RL2_ENST00000504899.1_Missense_Mutation_p.E28K|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	50					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAGGGGAACTCTTCAAAAGAA	0.428																																						dbGAP											0													89.0	99.0	96.0					5																	75914384		2202	4300	6502	-	-	-	SO:0001583	missense	0			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.148G>A	5.37:g.75914384C>T	ENSP00000296641:p.Glu50Lys		B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Prot_act_rcpt_3,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.E50K	ENST00000296641.4	37	c.148	CCDS4031.1	5	.	.	.	.	.	.	.	.	.	.	C	4.607	0.112835	0.08831	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.63744	-0.06;-0.04	4.55	3.66	0.41972	.	0.443257	0.19084	N	0.123152	T	0.49133	0.1539	L	0.58101	1.795	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27434	-1.0074	10	0.10636	T	0.68	-2.9821	4.9805	0.14162	0.184:0.6379:0.0:0.1781	.	50	O00254	PAR3_HUMAN	K	50;28	ENSP00000296641:E50K;ENSP00000426703:E28K	ENSP00000296641:E50K	E	-	1	0	F2RL2	75950140	0.008000	0.16893	0.847000	0.33407	0.061000	0.15899	0.295000	0.19065	2.098000	0.63641	0.563000	0.77884	GAG	F2RL2	-	prints_Prot_act_rcpt_3	ENSG00000164220		0.428	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL2	HGNC	protein_coding	OTTHUMT00000219958.3	76	0.00	0	C			75914384	75914384	-1	no_errors	ENST00000296641	ensembl	human	known	69_37n	missense	39	38.46	25	SNP	0.038	T
FAM169B	283777	genome.wustl.edu	37	15	98995099	98995100	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr15:98995099_98995100CC>AA	ENST00000558256.1	-	5	573_574	c.324_325GG>TT	c.(322-327)gaGGcc>gaTTcc	p.108_109EA>DS	FAM169B_ENST00000332908.4_Missense_Mutation_p.108_109EA>DS	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	108										large_intestine(3)|lung(3)|urinary_tract(1)	7						ACCCCCAGGGCCTCGTCCTCTG	0.554																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.324_325delinsAA	15.37:g.98995099_98995100delinsAA	ENSP00000453554:p.E108_A109delinsDS		B5MDL8	Missense_Mutation	SNP	NULL	p.A109S|p.E108D	ENST00000558256.1	37	c.325|c.324	CCDS45360.1	15																																																																																			FAM169B	-	NULL	ENSG00000185087		0.554	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM169B	HGNC	protein_coding	OTTHUMT00000415488.1	23|24	0.00	0	C	NM_182562		98995099|98995100	98995099|98995100	-1	no_errors	ENST00000332908	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	0.936|0.299	A
FCGBP	8857	genome.wustl.edu	37	19	40376680	40376680	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr19:40376680G>T	ENST00000221347.6	-	24	11749	c.11742C>A	c.(11740-11742)tgC>tgA	p.C3914*	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3914						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)			CAGCCGCCTGGCAAGCACTCA	0.587																																						dbGAP											0													70.0	92.0	84.0					19																	40376680		2135	4211	6346	-	-	-	SO:0001587	stop_gained	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.11742C>A	19.37:g.40376680G>T	ENSP00000221347:p.Cys3914*		O95784	Nonsense_Mutation	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.C3914*	ENST00000221347.6	37	c.11742	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	53	20.116296	0.99927	.	.	ENSG00000090920	ENST00000221347	.	.	.	3.75	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9986	0.47591	0.1049:0.0:0.8951:0.0	.	.	.	.	X	3914	.	ENSP00000221347:C3914X	C	-	3	2	FCGBP	45068520	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	2.014000	0.40951	1.792000	0.52537	0.313000	0.20887	TGC	FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000090920		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	74	0.00	0	G	NM_003890		40376680	40376680	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	nonsense	142	16.37	28	SNP	1.000	T
FRMPD4	9758	genome.wustl.edu	37	X	12736883	12736883	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chrX:12736883G>T	ENST00000380682.1	+	16	4444	c.3938G>T	c.(3937-3939)cGg>cTg	p.R1313L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1313					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGATGCCATCGGCTCCCCAAG	0.463																																						dbGAP											0													141.0	137.0	138.0					X																	12736883		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3938G>T	X.37:g.12736883G>T	ENSP00000370057:p.Arg1313Leu		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.R1313L	ENST00000380682.1	37	c.3938	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459639	0.63401	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.11930	2.73	5.55	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	M	0.70595	2.14	0.38610	D	0.950872	P;P	0.49783	0.928;0.928	B;B	0.43916	0.436;0.436	T	0.08534	-1.0717	10	0.87932	D	0	-6.2474	13.5061	0.61485	0.0769:0.0:0.9231:0.0	.	1305;1313	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	L	1313;1304;1302	ENSP00000370057:R1313L	ENSP00000304583:R1302L	R	+	2	0	FRMPD4	12646804	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	6.328000	0.72915	1.114000	0.41781	0.600000	0.82982	CGG	FRMPD4	-	NULL	ENSG00000169933		0.463	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	43	0.00	0	G	XM_045712		12736883	12736883	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	68	32.00	32	SNP	1.000	T
GMEB1	10691	genome.wustl.edu	37	1	29023445	29023445	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr1:29023445G>A	ENST00000294409.2	+	6	567	c.477G>A	c.(475-477)atG>atA	p.M159I	GMEB1_ENST00000373816.1_Missense_Mutation_p.M149I|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.M149I	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	159	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				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)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGGAAAATGATGGACTCCG	0.453																																						dbGAP											0													139.0	132.0	135.0					1																	29023445		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.477G>A	1.37:g.29023445G>A	ENSP00000294409:p.Met159Ile		B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	p.M159I	ENST00000294409.2	37	c.477	CCDS327.1	1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159442	0.38119	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.69806	-0.43;-0.43;-0.43	5.41	5.41	0.78517	SAND domain-like (2);SAND domain (3);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	N	0.12637	0.245	0.44789	D	0.99779	P;D	0.53885	0.925;0.963	D;D	0.67231	0.932;0.95	T	0.59295	-0.7481	10	0.08179	T	0.78	-28.9392	17.971	0.89112	0.0:0.0:1.0:0.0	.	159;149	Q9Y692;B1AT47	GMEB1_HUMAN;.	I	149;125;149;159	ENSP00000362922:M149I;ENSP00000355186:M149I;ENSP00000294409:M159I	ENSP00000294409:M159I	M	+	3	0	GMEB1	28896032	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.542000	0.85734	0.561000	0.74099	ATG	GMEB1	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	ENSG00000162419		0.453	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	85	0.00	0	G	NM_006582		29023445	29023445	+1	no_errors	ENST00000294409	ensembl	human	known	69_37n	missense	107	13.01	16	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	90024745	90024745	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr5:90024745T>G	ENST00000405460.2	+	49	10517	c.10421T>G	c.(10420-10422)tTt>tGt	p.F3474C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3474					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAAATGTCTTTCTAGGTGAG	0.318																																						dbGAP											0													44.0	44.0	44.0					5																	90024745		1822	4077	5899	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10421T>G	5.37:g.90024745T>G	ENSP00000384582:p.Phe3474Cys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.F3474C	ENST00000405460.2	37	c.10421	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.682|3.682	-0.065365|-0.065365	0.07273|0.07273	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|T	0.28454|0.25250	1.61|1.81	5.07|5.07	1.4|1.4	0.22301|0.22301	.|.	0.816550|0.816550	0.11890|0.11890	N|N	0.519738|0.519738	T|T	0.22126|0.22126	0.0533|0.0533	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	0.999994|0.999994	P;P|.	0.50369|.	0.69;0.934|.	B;B|.	0.43916|.	0.156;0.436|.	T|T	0.31251|0.31251	-0.9950|-0.9950	10|8	0.66056|0.14656	D|T	0.02|0.56	.|.	4.202|4.202	0.10471|0.10471	0.1507:0.2445:0.0:0.6048|0.1507:0.2445:0.0:0.6048	.|.	3474;3474|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	C|V	3474|1040	ENSP00000384582:F3474C|ENSP00000422153:F1040V	ENSP00000296619:F3474C|ENSP00000422153:F1040V	F|F	+|+	2|1	0|0	GPR98|GPR98	90060501|90060501	.|.	.|.	0.145000|0.145000	0.22337|0.22337	0.135000|0.135000	0.20990|0.20990	.|.	.|.	0.095000|0.095000	0.17434|0.17434	0.533000|0.533000	0.62120|0.62120	TTT|TTC	GPR98	-	superfamily_Gal_Oxase/kelch_b-propeller,pfscan_EAR	ENSG00000164199		0.318	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	89	0.00	0	T	NM_032119		90024745	90024745	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	90	15.89	17	SNP	0.111	G
GSTA4	2941	genome.wustl.edu	37	6	52849324	52849324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr6:52849324G>A	ENST00000370959.1	-	5	469	c.352C>T	c.(352-354)Caa>Taa	p.Q118*	GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000541324.1_Nonsense_Mutation_p.Q25*|GSTA4_ENST00000370960.1_Nonsense_Mutation_p.Q25*			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	118	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	ACTTCCTTTTGCTGATCATCT	0.423																																						dbGAP											0													133.0	115.0	121.0					6																	52849324		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.352C>T	6.37:g.52849324G>A	ENSP00000359998:p.Gln118*		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Nonsense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.Q118*	ENST00000370959.1	37	c.352	CCDS4948.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.126361	0.94429	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959;ENST00000457564	.	.	.	5.0	1.96	0.26148	.	0.490927	0.22378	N	0.060852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-9.8132	7.1426	0.25564	0.0:0.3712:0.3744:0.2543	.	.	.	.	X	118;25;25;118;25	.	ENSP00000359998:Q118X	Q	-	1	0	GSTA4	52957283	0.000000	0.05858	0.676000	0.29932	0.934000	0.57294	0.702000	0.25631	1.176000	0.42840	0.557000	0.71058	CAA	GSTA4	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	ENSG00000170899		0.423	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA4	HGNC	protein_coding	OTTHUMT00000040946.1	143	0.00	0	G	NM_001512		52849324	52849324	-1	no_errors	ENST00000370959	ensembl	human	known	69_37n	nonsense	119	28.57	48	SNP	0.080	A
GRIK2	2898	genome.wustl.edu	37	6	102074363	102074363	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr6:102074363A>C	ENST00000421544.1	+	3	882	c.392A>C	c.(391-393)cAg>cCg	p.Q131P	GRIK2_ENST00000358361.3_Missense_Mutation_p.Q131P|GRIK2_ENST00000369138.1_Missense_Mutation_p.Q131P|GRIK2_ENST00000369137.3_Missense_Mutation_p.Q131P|GRIK2_ENST00000369134.4_Missense_Mutation_p.Q82P|GRIK2_ENST00000318991.6_Missense_Mutation_p.Q131P|GRIK2_ENST00000413795.1_Missense_Mutation_p.Q131P	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	131					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CCCCACATACAGACCCGCTGG	0.537																																						dbGAP											0													125.0	122.0	123.0					6																	102074363		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.392A>C	6.37:g.102074363A>C	ENSP00000397026:p.Gln131Pro		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_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.Q131P	ENST00000421544.1	37	c.392	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440238	0.83993	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89410	0.6707	M	0.78049	2.395	0.58432	D	0.999991	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.74674	0.972;0.984;0.972	D	0.90847	0.4728	10	0.72032	D	0.01	.	16.1199	0.81342	1.0:0.0:0.0:0.0	.	131;131;131	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	P	131;131;131;131;131;131;131;82;93	ENSP00000397026:Q131P;ENSP00000405596:Q131P;ENSP00000358134:Q131P;ENSP00000351128:Q131P;ENSP00000358133:Q131P;ENSP00000313276:Q131P;ENSP00000358130:Q82P	ENSP00000313276:Q131P	Q	+	2	0	GRIK2	102181056	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.194000	0.70268	0.533000	0.62120	CAG	GRIK2	-	pfam_ANF_lig-bd_rcpt	ENSG00000164418		0.537	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	116	0.00	0	A			102074363	102074363	+1	no_errors	ENST00000421544	ensembl	human	known	69_37n	missense	128	26.86	47	SNP	1.000	C
GUCY1B3	2983	genome.wustl.edu	37	4	156721140	156721140	+	Silent	SNP	C	C	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr4:156721140C>T	ENST00000264424.8	+	9	1171	c.1089C>T	c.(1087-1089)taC>taT	p.Y363Y	GUCY1B3_ENST00000513437.1_Silent_p.Y295Y|GUCY1B3_ENST00000502959.1_Silent_p.Y385Y|GUCY1B3_ENST00000505764.1_Silent_p.Y343Y|GUCY1B3_ENST00000507146.1_Silent_p.Y295Y|GUCY1B3_ENST00000505154.1_Silent_p.Y295Y|GUCY1B3_ENST00000503520.1_Silent_p.Y363Y	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	363					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GAGAGGAATACAAACTCACCC	0.453																																						dbGAP											0													111.0	106.0	107.0					4																	156721140		1893	4118	6011	-	-	-	SO:0001819	synonymous_variant	0			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1089C>T	4.37:g.156721140C>T			B7Z426|Q86WY5	Silent	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.Y363	ENST00000264424.8	37	c.1089	CCDS47154.1	4																																																																																			GUCY1B3	-	pfam_Haem_no_assoc-bd	ENSG00000061918		0.453	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	95	0.00	0	C			156721140	156721140	+1	no_errors	ENST00000264424	ensembl	human	known	69_37n	silent	146	13.61	23	SNP	1.000	T
HAUS4	54930	genome.wustl.edu	37	14	23421871	23421871	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr14:23421871G>A	ENST00000206474.7	-	3	329	c.77C>T	c.(76-78)cCt>cTt	p.P26L	HAUS4_ENST00000397409.4_Missense_Mutation_p.P26L|HAUS4_ENST00000555986.1_Missense_Mutation_p.P26L|HAUS4_ENST00000541587.1_Missense_Mutation_p.P26L|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000490506.1_Intron|HAUS4_ENST00000347758.2_Missense_Mutation_p.P26L|HAUS4_ENST00000342454.8_Missense_Mutation_p.P26L|HAUS4_ENST00000555367.1_Missense_Mutation_p.P26L|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	26					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CAGGTTACAAGGAGGAAGTTG	0.423																																						dbGAP											0													92.0	89.0	90.0					14																	23421871		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.77C>T	14.37:g.23421871G>A	ENSP00000206474:p.Pro26Leu		B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	NULL	p.P26L	ENST00000206474.7	37	c.77	CCDS9580.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.83|11.83	1.755736|1.755736	0.31046|0.31046	.|.	.|.	ENSG00000092036|ENSG00000092036	ENST00000553420|ENST00000206474;ENST00000541587;ENST00000342454;ENST00000347758;ENST00000397409;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000556915;ENST00000554516;ENST00000557591	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.122638	.|0.56097	.|D	.|0.000027	T|T	0.61502|0.61502	0.2352|0.2352	L|L	0.31207|0.31207	0.915|0.915	0.49213|0.49213	D|D	0.99976|0.99976	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.998;0.999	T|T	0.53746|0.53746	-0.8395|-0.8395	5|9	.|0.02654	.|T	.|1	-8.3421|-8.3421	16.4644|16.4644	0.84074|0.84074	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|26;26;26	.|Q9H6D7-4;Q9H6D7-2;Q9H6D7	.|.;.;HAUS4_HUMAN	F|L	8|26	.|.	.|ENSP00000206474:P26L	L|P	-|-	1|2	0|0	HAUS4|HAUS4	22491711|22491711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.033000|4.033000	0.57282|0.57282	2.629000|2.629000	0.89072|0.89072	0.561000|0.561000	0.74099|0.74099	CTT|CCT	HAUS4	-	NULL	ENSG00000092036		0.423	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS4	HGNC	protein_coding	OTTHUMT00000071680.3	76	0.00	0	G			23421871	23421871	-1	no_errors	ENST00000206474	ensembl	human	known	69_37n	missense	70	25.53	24	SNP	1.000	A
HOXA5	3202	genome.wustl.edu	37	7	27181585	27181585	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr7:27181585T>C	ENST00000222726.3	-	2	742	c.682A>G	c.(682-684)Ata>Gta	p.I228V	HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA5_ENST00000520854.1_5'UTR|HOXA3_ENST00000521401.1_5'Flank|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	228					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GCATGTGCTATTTCAATCCTC	0.488											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(119;75 2200 7557 42868)	dbGAP											0													136.0	132.0	133.0					7																	27181585		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.682A>G	7.37:g.27181585T>C	ENSP00000222726:p.Ile228Val	792	A4D179|O43367|Q96CY6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.I228V	ENST00000222726.3	37	c.682	CCDS5406.1	7	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595088	0.66219	.	.	ENSG00000106004	ENST00000222726	D	0.96334	-3.98	4.76	4.76	0.60689	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96796	0.8954	L	0.49513	1.565	0.80722	D	1	P	0.36438	0.553	P	0.54706	0.759	D	0.96379	0.9280	10	0.41790	T	0.15	.	14.5605	0.68133	0.0:0.0:0.0:1.0	.	228	P20719	HXA5_HUMAN	V	228	ENSP00000222726:I228V	ENSP00000222726:I228V	I	-	1	0	HOXA5	27148110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.975000	0.88055	1.915000	0.55452	0.443000	0.29094	ATA	HOXA5	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	ENSG00000106004		0.488	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA5	HGNC	protein_coding	OTTHUMT00000358705.1	96	0.00	0	T			27181585	27181585	-1	no_errors	ENST00000222726	ensembl	human	known	69_37n	missense	173	32.95	85	SNP	1.000	C
IL13RA2	3598	genome.wustl.edu	37	X	114244201	114244201	+	Silent	SNP	A	A	C			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chrX:114244201A>C	ENST00000371936.1	-	8	984	c.735T>G	c.(733-735)acT>acG	p.T245T	IL13RA2_ENST00000243213.1_Silent_p.T245T			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	245	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CCCGAGTAAAAGTAAGATAGA	0.393																																						dbGAP											0													74.0	67.0	69.0					X																	114244201		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.735T>G	X.37:g.114244201A>C			A8K7E2|O00667	Silent	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.T245	ENST00000371936.1	37	c.735	CCDS14565.1	X																																																																																			IL13RA2	-	superfamily_Fibronectin_type3	ENSG00000123496		0.393	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	102	0.00	0	A	NM_000640		114244201	114244201	-1	no_errors	ENST00000243213	ensembl	human	known	69_37n	silent	96	31.21	44	SNP	0.000	C
IL17RD	54756	genome.wustl.edu	37	3	57132384	57132384	+	Silent	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr3:57132384G>A	ENST00000296318.7	-	12	1435	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	IL17RD_ENST00000320057.5_Silent_p.L305L|IL17RD_ENST00000463523.1_Silent_p.L305L|IL17RD_ENST00000427856.2_Silent_p.L425L	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	449	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CCACCAGGAAGAGCTCTCCTT	0.512																																						dbGAP											0													66.0	65.0	66.0					3																	57132384		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1347C>T	3.37:g.57132384G>A			Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	pfam_SEFIR,superfamily_TIR_dom	p.L449	ENST00000296318.7	37	c.1347	CCDS2880.2	3																																																																																			IL17RD	-	pfam_SEFIR	ENSG00000144730		0.512	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	40	0.00	0	G	NM_017563		57132384	57132384	-1	no_errors	ENST00000296318	ensembl	human	known	69_37n	silent	60	15.49	11	SNP	1.000	A
ILF3	3609	genome.wustl.edu	37	19	10781755	10781755	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr19:10781755C>G	ENST00000590261.1	+	2	109	c.109C>G	c.(109-111)Cac>Gac	p.H37D	ILF3_ENST00000588657.1_Missense_Mutation_p.H37D|ILF3_ENST00000318511.3_Missense_Mutation_p.H37D|ILF3_ENST00000449870.1_Missense_Mutation_p.H37D|ILF3_ENST00000592763.1_Missense_Mutation_p.H37D|ILF3_ENST00000407004.3_Missense_Mutation_p.H37D|ILF3_ENST00000250241.8_Missense_Mutation_p.H37D|ILF3_ENST00000420083.1_Missense_Mutation_p.H37D|ILF3_ENST00000589998.1_Missense_Mutation_p.H37D			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	37	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CATGGTGTCCCACACGGAGCG	0.532																																						dbGAP											0													63.0	57.0	59.0					19																	10781755		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.109C>G	19.37:g.10781755C>G	ENSP00000468156:p.His37Asp		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.H37D	ENST00000590261.1	37	c.109	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835018	0.50951	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.62295	0.2416	M	0.79475	2.455	0.58432	D	0.999994	D;D;B;D;D	0.89917	0.996;0.993;0.151;1.0;0.996	D;D;B;D;D	0.83275	0.99;0.977;0.039;0.996;0.99	T	0.58086	-0.7698	10	0.36615	T	0.2	.	18.3495	0.90333	0.0:1.0:0.0:0.0	.	37;37;37;37;37	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	D	37	ENSP00000404121:H37D;ENSP00000315205:H37D;ENSP00000405436:H37D;ENSP00000384660:H37D;ENSP00000250241:H37D	ENSP00000250241:H37D	H	+	1	0	ILF3	10642755	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	3.592000	0.53993	2.941000	0.99782	0.655000	0.94253	CAC	ILF3	-	NULL	ENSG00000129351		0.532	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	58	0.00	0	C			10781755	10781755	+1	no_errors	ENST00000449870	ensembl	human	known	69_37n	missense	108	19.40	26	SNP	1.000	G
ITGAE	3682	genome.wustl.edu	37	17	3620003	3620003	+	Silent	SNP	C	C	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr17:3620003C>T	ENST00000263087.4	-	30	3521	c.3423G>A	c.(3421-3423)gtG>gtA	p.V1141V		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	1141					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGACCAGAATCACGATCAACA	0.473																																					NSCLC(182;635 2928 8995 38788)	dbGAP											0													238.0	200.0	213.0					17																	3620003		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.3423G>A	17.37:g.3620003C>T			Q17RS6|Q9NZU9	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,pfscan_VWF_A,prints_Integrin_alpha	p.V1141	ENST00000263087.4	37	c.3423	CCDS32531.1	17																																																																																			ITGAE	-	prints_Integrin_alpha	ENSG00000083457		0.473	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	100	0.00	0	C	NM_002208		3620003	3620003	-1	no_errors	ENST00000263087	ensembl	human	known	69_37n	silent	149	30.37	65	SNP	0.192	T
KIRREL3	84623	genome.wustl.edu	37	11	126396533	126396533	+	Silent	SNP	C	C	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr11:126396533C>T	ENST00000525144.2	-	3	432	c.183G>A	c.(181-183)tcG>tcA	p.S61S	KIRREL3_ENST00000525704.2_Silent_p.S61S|KIRREL3_ENST00000529097.2_Silent_p.S61S	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	61	Ig-like C2-type 1.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTGGCTGTCCCGACACCACCA	0.587																																						dbGAP											0													50.0	59.0	56.0					11																	126396533		2114	4226	6340	-	-	-	SO:0001819	synonymous_variant	0			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.183G>A	11.37:g.126396533C>T			Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S61	ENST00000525144.2	37	c.183	CCDS53723.1	11																																																																																			KIRREL3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000149571		0.587	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	HGNC	protein_coding	OTTHUMT00000386479.2	75	0.00	0	C	NM_032531		126396533	126396533	-1	no_errors	ENST00000525144	ensembl	human	known	69_37n	silent	110	15.91	21	SNP	0.003	T
MED25	81857	genome.wustl.edu	37	19	50322461	50322461	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr19:50322461C>G	ENST00000312865.6	+	3	266	c.213C>G	c.(211-213)ttC>ttG	p.F71L	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	71	Interaction with the Mediator complex.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCGTGGTGTTCAACACAGTGG	0.527																																					GBM(51;894 1657 37868)	dbGAP											0													97.0	81.0	87.0					19																	50322461		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.213C>G	19.37:g.50322461C>G	ENSP00000326767:p.Phe71Leu		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.F71L	ENST00000312865.6	37	c.213	CCDS33075.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.249647	0.95305	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000542221;ENST00000544580	T	0.16897	2.31	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.03423	-1.1038	10	0.72032	D	0.01	.	11.7794	0.52003	0.0:0.9176:0.0:0.0824	.	71	Q71SY5	MED25_HUMAN	L	71	ENSP00000326767:F71L	ENSP00000326767:F71L	F	+	3	2	MED25	55014273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.179000	0.58290	2.689000	0.91719	0.655000	0.94253	TTC	MED25	-	pfam_Mediator_Med25_VWA	ENSG00000104973		0.527	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1	47	0.00	0	C	NM_030973		50322461	50322461	+1	no_errors	ENST00000312865	ensembl	human	known	69_37n	missense	80	25.23	27	SNP	1.000	G
MPP6	51678	genome.wustl.edu	37	7	24718895	24718895	+	Silent	SNP	T	T	C			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr7:24718895T>C	ENST00000222644.5	+	10	1510	c.1260T>C	c.(1258-1260)gaT>gaC	p.D420D	MPP6_ENST00000396475.2_Silent_p.D420D|MPP6_ENST00000409761.1_Silent_p.D308D			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CCAAAATTGATTCTATTCTTG	0.373																																						dbGAP											0													125.0	116.0	119.0					7																	24718895		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1260T>C	7.37:g.24718895T>C			B2RAF0	Silent	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.D420	ENST00000222644.5	37	c.1260	CCDS5388.1	7																																																																																			MPP6	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	ENSG00000105926		0.373	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP6	HGNC	protein_coding	OTTHUMT00000250272.4	142	0.00	0	T			24718895	24718895	+1	no_errors	ENST00000222644	ensembl	human	known	69_37n	silent	206	12.34	29	SNP	1.000	C
MSH5	4439	genome.wustl.edu	37	6	31727737	31727737	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr6:31727737G>A	ENST00000375755.3	+	18	1956	c.1670G>A	c.(1669-1671)cGa>cAa	p.R557Q	RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000395853.1_Missense_Mutation_p.R231Q|MSH5_ENST00000375703.3_Missense_Mutation_p.R557Q|MSH5_ENST00000431848.2_Missense_Mutation_p.R256Q|MSH5_ENST00000534153.4_Missense_Mutation_p.R574Q|MSH5_ENST00000375750.3_Missense_Mutation_p.R557Q|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.R574Q|MSH5_ENST00000375742.3_Missense_Mutation_p.R574Q|MSH5_ENST00000375740.3_Missense_Mutation_p.R574Q	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	557					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CTTGGGGTACGAATCCAGAAT	0.572								Direct reversal of damage;Mismatch excision repair (MMR)																														dbGAP											0													47.0	50.0	49.0					6																	31727737		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1670G>A	6.37:g.31727737G>A	ENSP00000364908:p.Arg557Gln		B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.R574Q	ENST00000375755.3	37	c.1721	CCDS4720.1	6	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354303	0.61293	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	6.06	6.06	0.98353	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.286703	0.35555	N	0.003123	T	0.62780	0.2456	N	0.17345	0.48	0.28689	N	0.904693	P;P;D;B;D	0.56746	0.871;0.946;0.957;0.073;0.977	B;B;B;B;B	0.43754	0.301;0.304;0.43;0.068;0.304	T	0.64067	-0.6494	9	0.14656	T	0.56	-7.5535	11.3854	0.49782	0.0813:0.0:0.9187:0.0	.	242;574;557;557;574	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	Q	557;574;89;557;574;557;574;256;231	ENSP00000364908:R557Q;ENSP00000364894:R574Q;ENSP00000364903:R557Q;ENSP00000431693:R574Q;ENSP00000364855:R557Q;ENSP00000364892:R574Q;ENSP00000416784:R256Q;ENSP00000379194:R231Q	ENSP00000364855:R557Q	R	+	2	0	MSH5	31835716	0.892000	0.30473	1.000000	0.80357	0.959000	0.62525	2.387000	0.44389	2.882000	0.98803	0.655000	0.94253	CGA	MSH5	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_core	ENSG00000204410		0.572	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	HGNC	protein_coding	OTTHUMT00000076243.4	46	0.00	0	G			31727737	31727737	+1	no_errors	ENST00000375742	ensembl	human	known	69_37n	missense	116	21.62	32	SNP	0.977	A
MTHFD1L	25902	genome.wustl.edu	37	6	151334924	151334924	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr6:151334924G>A	ENST00000367321.3	+	22	2549	c.2275G>A	c.(2275-2277)Ggt>Agt	p.G759S		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	759	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGTAACGGCTGGTGTTCCTCT	0.363																																						dbGAP											0													95.0	88.0	90.0					6																	151334924		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2275G>A	6.37:g.151334924G>A	ENSP00000356290:p.Gly759Ser		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.G759S	ENST00000367321.3	37	c.2275	CCDS5228.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.316038	0.95655	.	.	ENSG00000120254	ENST00000367321	T	0.15718	2.4	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	H	0.96833	3.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.70695	-0.4801	10	0.87932	D	0	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	760;514;759	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	S	759	ENSP00000356290:G759S	ENSP00000356290:G759S	G	+	1	0	MTHFD1L	151376617	1.000000	0.71417	0.980000	0.43619	0.840000	0.47671	9.189000	0.94928	2.746000	0.94184	0.655000	0.94253	GGT	MTHFD1L	-	pfam_Formate_THF_ligase	ENSG00000120254		0.363	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	204	0.00	0	G	NM_015440		151334924	151334924	+1	no_errors	ENST00000367321	ensembl	human	known	69_37n	missense	265	24.50	86	SNP	1.000	A
MUC4	4585	genome.wustl.edu	37	3	195506421	195506421	+	Silent	SNP	A	A	G	rs147066573	byFrequency	TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr3:195506421A>G	ENST00000463781.3	-	2	12489	c.12030T>C	c.(12028-12030)tcT>tcC	p.S4010S	MUC4_ENST00000475231.1_Silent_p.S4010S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGTGACCTGTAGATACTGAGG	0.597													.|||	960	0.191693	0.4198	0.1196	5008	,	,		9909	0.0446		0.1839	False		,,,				2504	0.0941					dbGAP											0													18.0	15.0	16.0					3																	195506421		636	1502	2138	-	-	-	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12030T>C	3.37:g.195506421A>G			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.S4010	ENST00000463781.3	37	c.12030	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	17	0.00	0	A	NM_018406		195506421	195506421	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	silent	34	24.44	11	SNP	0.001	G
NBEA	26960	genome.wustl.edu	37	13	35517230	35517230	+	Silent	SNP	C	C	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr13:35517230C>T	ENST00000400445.3	+	1	807	c.273C>T	c.(271-273)atC>atT	p.I91I	NBEA_ENST00000379939.2_Silent_p.I91I|NBEA_ENST00000310336.4_Silent_p.I91I|NBEA_ENST00000540320.1_Silent_p.I91I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	91					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACAGGGACATCGTGGAGACGG	0.567																																						dbGAP											0													146.0	166.0	159.0					13																	35517230		2138	4245	6383	-	-	-	SO:0001819	synonymous_variant	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.273C>T	13.37:g.35517230C>T			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.I91	ENST00000400445.3	37	c.273	CCDS45026.1	13																																																																																			NBEA	-	NULL	ENSG00000172915		0.567	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		17	0.00	0	C	NM_015678		35517230	35517230	+1	no_errors	ENST00000310336	ensembl	human	known	69_37n	silent	19	53.66	22	SNP	1.000	T
NCOA5	57727	genome.wustl.edu	37	20	44692114	44692114	+	Silent	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr20:44692114G>A	ENST00000290231.6	-	7	1199	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GCAGGTTGATGAGGCTCTGGA	0.592																																						dbGAP											0													88.0	76.0	80.0					20																	44692114		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1035C>T	20.37:g.44692114G>A			B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Silent	SNP	superfamily_Anticodon-bd	p.L345	ENST00000290231.6	37	c.1035	CCDS13392.1	20																																																																																			NCOA5	-	NULL	ENSG00000124160		0.592	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1	59	0.00	0	G	NM_020967		44692114	44692114	-1	no_errors	ENST00000290231	ensembl	human	known	69_37n	silent	103	24.26	33	SNP	1.000	A
OR51Q1	390061	genome.wustl.edu	37	11	5444328	5444328	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr11:5444328C>G	ENST00000300778.4	+	1	988	c.898C>G	c.(898-900)Cag>Gag	p.Q300E	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGAACAAGCAGATCCAATG	0.428																																						dbGAP											0													60.0	59.0	60.0					11																	5444328		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.898C>G	11.37:g.5444328C>G	ENSP00000300778:p.Gln300Glu		B2RNN1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q300E	ENST00000300778.4	37	c.898	CCDS31381.1	11	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494907	0.26774	.	.	ENSG00000167360	ENST00000300778	T	0.35421	1.31	5.0	2.99	0.34606	.	0.117065	0.38436	N	0.001689	T	0.42040	0.1185	L	0.31157	0.91	0.29543	N	0.851901	D	0.59767	0.986	D	0.70227	0.968	T	0.24154	-1.0168	10	0.27785	T	0.31	.	10.7549	0.46230	0.1473:0.7108:0.142:0.0	.	300	Q8NH59	O51Q1_HUMAN	E	300	ENSP00000300778:Q300E	ENSP00000300778:Q300E	Q	+	1	0	OR51Q1	5400904	0.407000	0.25352	1.000000	0.80357	0.325000	0.28411	0.396000	0.20867	1.333000	0.45449	0.380000	0.24917	CAG	OR51Q1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000167360		0.428	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	HGNC	protein_coding	OTTHUMT00000143373.1	41	0.00	0	C	NM_001004757		5444328	5444328	+1	no_errors	ENST00000300778	ensembl	human	known	69_37n	missense	40	13.04	6	SNP	1.000	G
OR5R1	219479	genome.wustl.edu	37	11	56185676	56185676	+	Silent	SNP	T	T	C			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr11:56185676T>C	ENST00000312253.1	-	1	32	c.33A>G	c.(31-33)gtA>gtG	p.V11V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TCAGAATGAATACAGTGACAT	0.403																																						dbGAP											0													84.0	94.0	91.0					11																	56185676		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.33A>G	11.37:g.56185676T>C				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V11	ENST00000312253.1	37	c.33	CCDS31530.1	11																																																																																			OR5R1	-	NULL	ENSG00000174942		0.403	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	HGNC	protein_coding	OTTHUMT00000334444.1	48	0.00	0	T	NM_001004744		56185676	56185676	-1	no_errors	ENST00000312253	ensembl	human	known	69_37n	silent	42	20.75	11	SNP	0.353	C
PCDHB14	56122	genome.wustl.edu	37	5	140604455	140604455	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr5:140604455G>A	ENST00000239449.4	+	1	1378	c.1378G>A	c.(1378-1380)Gtc>Atc	p.V460I	PCDHB14_ENST00000515856.2_Missense_Mutation_p.V307I	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	460	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTGTTCGTCCGCGAGAA	0.612																																					Ovarian(141;50 1831 27899 33809 37648)	dbGAP											0													117.0	120.0	119.0					5																	140604455		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1378G>A	5.37:g.140604455G>A	ENSP00000239449:p.Val460Ile		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V460I	ENST00000239449.4	37	c.1378	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	7.619	0.676328	0.14841	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.53857	0.6;0.6	4.5	-2.29	0.06805	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29749	0.0743	N	0.20574	0.59	0.09310	N	1	D	0.56035	0.974	P	0.44477	0.451	T	0.19160	-1.0314	9	0.23891	T	0.37	.	1.3127	0.02101	0.2173:0.2979:0.2949:0.19	.	460	Q9Y5E9	PCDBE_HUMAN	I	307;460	ENSP00000444518:V307I;ENSP00000239449:V460I	ENSP00000239449:V460I	V	+	1	0	PCDHB14	140584639	0.001000	0.12720	0.010000	0.14722	0.539000	0.34962	-0.117000	0.10708	-0.127000	0.11661	-0.224000	0.12420	GTC	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000120327		0.612	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	41	0.00	0	G	NM_018934		140604455	140604455	+1	no_errors	ENST00000239449	ensembl	human	known	69_37n	missense	88	19.27	21	SNP	0.000	A
PKD2L1	9033	genome.wustl.edu	37	10	102054793	102054793	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr10:102054793C>T	ENST00000318222.3	-	8	1826	c.1444G>A	c.(1444-1446)Gtc>Atc	p.V482I	PKD2L1_ENST00000338519.3_Missense_Mutation_p.V407I|PKD2L1_ENST00000353274.3_Missense_Mutation_p.V482I	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	482					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AAGAACATGACGGCGAAGCCC	0.502																																						dbGAP											0													146.0	137.0	140.0					10																	102054793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1444G>A	10.37:g.102054793C>T	ENSP00000325296:p.Val482Ile		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.V482I	ENST00000318222.3	37	c.1444	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	C	4.798	0.148336	0.09134	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.71222	-0.55;-0.55;-0.55	6.04	2.31	0.28768	Polycystin cation channel, PKD1/PKD2 (1);	0.325143	0.32836	N	0.005586	T	0.37598	0.1009	N	0.03304	-0.355	0.26602	N	0.973008	B;B	0.23540	0.087;0.002	B;B	0.20184	0.028;0.02	T	0.36456	-0.9747	10	0.02654	T	1	-21.1582	7.4597	0.27287	0.0:0.4269:0.0:0.5731	.	435;482	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	I	407;482;482;480	ENSP00000345068:V407I;ENSP00000266049:V482I;ENSP00000325296:V482I	ENSP00000325296:V482I	V	-	1	0	PKD2L1	102044783	0.114000	0.22134	0.643000	0.29450	0.992000	0.81027	0.288000	0.18939	0.476000	0.27440	0.561000	0.74099	GTC	PKD2L1	-	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	ENSG00000107593		0.502	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	76	0.00	0	C	NM_016112		102054793	102054793	-1	no_errors	ENST00000318222	ensembl	human	known	69_37n	missense	137	13.29	21	SNP	0.495	T
PKNOX2	63876	genome.wustl.edu	37	11	125280153	125280153	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr11:125280153T>C	ENST00000298282.9	+	8	921	c.650T>C	c.(649-651)gTg>gCg	p.V217A	PKNOX2_ENST00000542175.1_Missense_Mutation_p.V153A|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	217					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAGGGGATTGTGGTCCCAGCC	0.567																																						dbGAP											0													93.0	98.0	97.0					11																	125280153		2083	4227	6310	-	-	-	SO:0001583	missense	0			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.650T>C	11.37:g.125280153T>C	ENSP00000298282:p.Val217Ala		B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V217A	ENST00000298282.9	37	c.650	CCDS41730.1	11	.	.	.	.	.	.	.	.	.	.	T	18.42	3.620830	0.66787	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.86097	-2.07;-2.07;-2.03;-2.04	5.62	5.62	0.85841	.	0.065057	0.64402	D	0.000010	D	0.88149	0.6359	L	0.52573	1.65	0.80722	D	1	P;D	0.58970	0.675;0.984	B;D	0.68192	0.39;0.956	D	0.84345	0.0529	10	0.06891	T	0.86	-15.3165	15.4884	0.75584	0.0:0.0:0.0:1.0	.	153;217	F5GZ15;Q96KN3	.;PKNX2_HUMAN	A	188;188;217;153;205	ENSP00000434732:V188A;ENSP00000433971:V188A;ENSP00000298282:V217A;ENSP00000441470:V153A	ENSP00000298282:V217A	V	+	2	0	PKNOX2	124785363	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.320000	0.79064	2.129000	0.65627	0.533000	0.62120	GTG	PKNOX2	-	NULL	ENSG00000165495		0.567	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX2	HGNC	protein_coding	OTTHUMT00000386866.3	43	0.00	0	T			125280153	125280153	+1	no_errors	ENST00000298282	ensembl	human	known	69_37n	missense	85	15.69	16	SNP	1.000	C
ZNF512B	57473	genome.wustl.edu	37	20	62658961	62658961	+	Intron	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr20:62658961G>A	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Silent_p.K697K|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCAGTTGAAGAAGTGTCCCC	0.542																																						dbGAP											0													171.0	155.0	160.0					20																	62658961		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+21096C>T	20.37:g.62658961G>A			Q08AK9|Q9ULM4	Silent	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.K737	ENST00000450537.1	37	c.2211	CCDS13548.1	20																																																																																			PRPF6	-	smart_TPR_repeat,smart_HAT,pfscan_TPR-contain_dom	ENSG00000101161		0.542	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	45	0.00	0	G	NM_020713		62658961	62658961	+1	no_errors	ENST00000266079	ensembl	human	known	69_37n	silent	104	21.80	29	SNP	1.000	A
PSG6	5675	genome.wustl.edu	37	19	43411997	43411997	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr19:43411997G>T	ENST00000292125.2	-	4	760	c.716C>A	c.(715-717)cCc>cAc	p.P239H	PSG6_ENST00000187910.2_Missense_Mutation_p.P239H|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	239					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTAAGGCATGGGCAGCTTCGC	0.488																																						dbGAP											0													235.0	227.0	229.0					19																	43411997		2201	4299	6500	-	-	-	SO:0001583	missense	0				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.716C>A	19.37:g.43411997G>T	ENSP00000292125:p.Pro239His		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P239H	ENST00000292125.2	37	c.716	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	N	9.281	1.048038	0.19827	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.36520	1.25;1.27	1.42	0.142	0.14816	.	.	.	.	.	T	0.53206	0.1782	M	0.79475	2.455	0.09310	N	1	D;D	0.89917	1.0;0.994	D;D	0.72982	0.979;0.962	T	0.38415	-0.9662	9	0.66056	D	0.02	.	4.699	0.12818	0.0:0.0:0.6316:0.3684	.	239;239	Q00889;Q00889-2	PSG6_HUMAN;.	H	239	ENSP00000187910:P239H;ENSP00000292125:P239H	ENSP00000187910:P239H	P	-	2	0	PSG6	48103837	0.001000	0.12720	0.002000	0.10522	0.032000	0.12392	0.103000	0.15292	-0.067000	0.12976	0.134000	0.15878	CCC	PSG6	-	NULL	ENSG00000170848		0.488	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	179	0.00	0	G	NM_002782		43411997	43411997	-1	no_errors	ENST00000292125	ensembl	human	known	69_37n	missense	331	13.77	53	SNP	0.002	T
PTENP1	11191	genome.wustl.edu	37	9	33676093	33676093	+	RNA	SNP	A	A	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr9:33676093A>T	ENST00000532280.1	-	0	1404					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TCTATAATCCACATGATTCTT	0.428																																						dbGAP											0																																										-	-	-			0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676093A>T				RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.428	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	187	0.00	0	A	NR_023917		33676093	33676093	-1	no_errors	ENST00000532280	ensembl	human	known	69_37n	rna	154	14.92	27	SNP	1.000	T
RBM6	10180	genome.wustl.edu	37	3	50005657	50005657	+	Missense_Mutation	SNP	C	C	A	rs529537939		TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr3:50005657C>A	ENST00000266022.4	+	3	1058	c.799C>A	c.(799-801)Cag>Aag	p.Q267K	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.Q135K|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	267					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TAGGACTGATCAGGATTTTAG	0.453																																						dbGAP											0													79.0	83.0	82.0					3																	50005657		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.799C>A	3.37:g.50005657C>A	ENSP00000266022:p.Gln267Lys		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.Q267K	ENST00000266022.4	37	c.799	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984753	0.53934	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.32272	1.46;1.5	6.04	6.04	0.98038	.	0.140267	0.48767	D	0.000164	T	0.44265	0.1285	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	T	0.08411	-1.0723	9	.	.	.	-12.0227	20.5792	0.99380	0.0:1.0:0.0:0.0	.	267	P78332	RBM6_HUMAN	K	267;135	ENSP00000266022:Q267K;ENSP00000396466:Q135K	.	Q	+	1	0	RBM6	49980661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.650000	0.61440	2.873000	0.98535	0.561000	0.74099	CAG	RBM6	-	NULL	ENSG00000004534		0.453	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	99	0.00	0	C	NM_005777		50005657	50005657	+1	no_errors	ENST00000266022	ensembl	human	known	69_37n	missense	144	13.25	22	SNP	1.000	A
RASA2	5922	genome.wustl.edu	37	3	141277776	141277776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr3:141277776G>T	ENST00000452898.1	+	8	768	c.733G>T	c.(733-735)Gag>Tag	p.E245*	RASA2_ENST00000286364.3_Nonsense_Mutation_p.E245*	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	245	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CCAGGTAGAAGAGGAGGACAT	0.318																																						dbGAP											0													68.0	69.0	69.0					3																	141277776		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.733G>T	3.37:g.141277776G>T	ENSP00000391677:p.Glu245*		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Nonsense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.E245*	ENST00000452898.1	37	c.733		3	.	.	.	.	.	.	.	.	.	.	G	34	5.385412	0.95967	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	18.9131	0.92493	0.0:0.0:1.0:0.0	.	.	.	.	X	245	.	ENSP00000286364:E245X	E	+	1	0	RASA2	142760466	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.450000	0.90340	2.465000	0.83290	0.555000	0.69702	GAG	RASA2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000155903		0.318	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		125	0.00	0	G	NM_006506		141277776	141277776	+1	no_errors	ENST00000452898	ensembl	human	known	69_37n	nonsense	100	16.67	20	SNP	1.000	T
ROM1	6094	genome.wustl.edu	37	11	62381062	62381062	+	Silent	SNP	G	G	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr11:62381062G>T	ENST00000278833.3	+	1	850	c.309G>T	c.(307-309)ctG>ctT	p.L103L	ROM1_ENST00000534093.1_Intron|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000529309.1_5'Flank|EML3_ENST00000494176.2_5'Flank|EML3_ENST00000394773.2_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	103					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						TGGGCCCGCTGCTGGTGGCTG	0.701																																						dbGAP											0													19.0	20.0	20.0					11																	62381062		2199	4295	6494	-	-	-	SO:0001819	synonymous_variant	0			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.309G>T	11.37:g.62381062G>T			B2R978	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	p.L103	ENST00000278833.3	37	c.309	CCDS8024.1	11																																																																																			ROM1	-	pfam_Tetraspanin/Peripherin	ENSG00000149489		0.701	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROM1	HGNC	protein_coding	OTTHUMT00000394929.1	18	0.00	0	G	NM_000327		62381062	62381062	+1	no_errors	ENST00000278833	ensembl	human	known	69_37n	silent	26	23.53	8	SNP	0.931	T
SLC22A3	6581	genome.wustl.edu	37	6	160858113	160858113	+	Silent	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr6:160858113G>A	ENST00000275300.2	+	7	1310	c.1158G>A	c.(1156-1158)tcG>tcA	p.S386S	SLC22A3_ENST00000392145.1_Silent_p.S386S	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	386					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)	p.S386S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	TTTTCATCTCGGGCGTGGTGG	0.517																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											140.0	150.0	147.0					6																	160858113		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1158G>A	6.37:g.160858113G>A			Q5SYN6|Q9UP02	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.S386	ENST00000275300.2	37	c.1158	CCDS5277.1	6																																																																																			SLC22A3	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000146477		0.517	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC22A3	HGNC	protein_coding	OTTHUMT00000042953.1	97	0.00	0	G	NM_021977		160858113	160858113	+1	no_errors	ENST00000392145	ensembl	human	known	69_37n	silent	106	22.06	30	SNP	0.984	A
SLC4A7	9497	genome.wustl.edu	37	3	27418337	27418337	+	Splice_Site	SNP	C	C	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr3:27418337C>T	ENST00000295736.5	-	25	3634		c.e25-1		SLC4A7_ENST00000445684.1_Splice_Site|SLC4A7_ENST00000455077.1_Splice_Site|SLC4A7_ENST00000440156.1_Splice_Site|SLC4A7_ENST00000446700.1_Splice_Site|SLC4A7_ENST00000388777.4_Splice_Site|SLC4A7_ENST00000437179.1_Splice_Site|SLC4A7_ENST00000425128.2_Splice_Site|SLC4A7_ENST00000435667.2_Splice_Site|SLC4A7_ENST00000428386.1_Splice_Site|SLC4A7_ENST00000454389.1_Splice_Site	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7						auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TTTATCAGGACTATTTAAAAC	0.269																																						dbGAP											0													57.0	57.0	57.0					3																	27418337		2199	4294	6493	-	-	-	SO:0001630	splice_region_variant	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3564-1G>A	3.37:g.27418337C>T			A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Splice_Site	SNP	-	e26-1	ENST00000295736.5	37	c.3699-1	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702647	0.68501	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0503	0.97624	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC4A7	27393341	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.677000	0.68142	2.736000	0.93811	0.591000	0.81541	.	SLC4A7	-	-	ENSG00000033867		0.269	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	214	0.00	0	C	NM_003615	Intron	27418337	27418337	-1	no_errors	ENST00000454389	ensembl	human	known	69_37n	splice_site	96	27.82	37	SNP	1.000	T
SPANXD	64648	genome.wustl.edu	37	X	140786506	140786506	+	Silent	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chrX:140786506G>A	ENST00000370515.3	-	1	390	c.57C>T	c.(55-57)aaC>aaT	p.N19N		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	19						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CGTTGGCCTCGTTGGAATCAC	0.507																																						dbGAP											0													3.0	3.0	3.0					X																	140786506		1544	3070	4614	-	-	-	SO:0001819	synonymous_variant	0			AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.57C>T	X.37:g.140786506G>A			Q5JWI1	Silent	SNP	pfam_SPANX_prot	p.N19	ENST00000370515.3	37	c.57	CCDS14675.1	X																																																																																			SPANXD	-	pfam_SPANX_prot	ENSG00000196406		0.507	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXD	HGNC	protein_coding	OTTHUMT00000058598.1	220	0.00	0	G			140786506	140786506	-1	no_errors	ENST00000370515	ensembl	human	known	69_37n	silent	281	24.66	92	SNP	0.016	A
SPATA9	83890	genome.wustl.edu	37	5	95011246	95011246	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr5:95011246G>A	ENST00000274432.8	-	3	389	c.248C>T	c.(247-249)tCc>tTc	p.S83F	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.S83F|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	83					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GGAGGATCTGGATATGCTGTT	0.423																																						dbGAP											0													204.0	170.0	181.0					5																	95011246		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.248C>T	5.37:g.95011246G>A	ENSP00000274432:p.Ser83Phe		A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	NULL	p.S83F	ENST00000274432.8	37	c.248	CCDS4076.1	5	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956327	0.34565	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.58652	0.32	4.91	4.02	0.46733	.	0.118100	0.39020	N	0.001489	T	0.60418	0.2267	L	0.27053	0.805	0.26590	N	0.97322	D	0.69078	0.997	D	0.65010	0.931	T	0.55186	-0.8180	10	0.87932	D	0	-2.3318	11.315	0.49386	0.0:0.1838:0.8162:0.0	.	83	Q9BWV2	SPAT9_HUMAN	F	83	ENSP00000274432:S83F	ENSP00000274432:S83F	S	-	2	0	SPATA9	95037002	0.999000	0.42202	0.313000	0.25210	0.831000	0.47069	4.314000	0.59166	1.403000	0.46800	0.655000	0.94253	TCC	SPATA9	-	NULL	ENSG00000145757		0.423	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA9	HGNC	protein_coding	OTTHUMT00000304036.1	211	0.00	0	G	NM_031952		95011246	95011246	-1	no_errors	ENST00000274432	ensembl	human	known	69_37n	missense	265	15.34	48	SNP	0.629	A
TATDN3	128387	genome.wustl.edu	37	1	212985604	212985604	+	Silent	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr1:212985604G>A	ENST00000366974.4	+	9	709	c.615G>A	c.(613-615)gtG>gtA	p.V205V	TATDN3_ENST00000531963.1_Silent_p.V212V|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Silent_p.V212V|TATDN3_ENST00000366973.4_Silent_p.V204V|TATDN3_ENST00000526641.1_Silent_p.V184V|TATDN3_ENST00000526997.1_Missense_Mutation_p.E167K	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	205					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		AGAAACTTGTGAAACAATTGC	0.289																																						dbGAP											0													49.0	50.0	50.0					1																	212985604		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.615G>A	1.37:g.212985604G>A			A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Missense_Mutation	SNP	pfam_TatD_superfamily,pirsf_DNase_TatD	p.E167K	ENST00000366974.4	37	c.499	CCDS31019.1	1	.	.	.	.	.	.	.	.	.	.	G	7.220	0.597149	0.13875	.	.	ENSG00000203705	ENST00000526997	.	.	.	4.74	0.478	0.16789	.	.	.	.	.	T	0.09291	0.0229	.	.	.	0.23731	N	0.996995	.	.	.	.	.	.	T	0.34254	-0.9836	5	0.05721	T	0.95	-4.0672	2.9261	0.05785	0.2176:0.1226:0.5337:0.1261	.	.	.	.	K	167	.	ENSP00000436364:E167K	E	+	1	0	TATDN3	211052227	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	1.733000	0.38156	0.000000	0.14550	0.650000	0.86243	GAA	TATDN3	-	pirsf_DNase_TatD	ENSG00000203705		0.289	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TATDN3	HGNC	protein_coding	OTTHUMT00000089396.2	105	0.00	0	G	XM_375838		212985604	212985604	+1	no_errors	ENST00000526997	ensembl	human	putative	69_37n	missense	107	35.54	59	SNP	1.000	A
TGFBRAP1	9392	genome.wustl.edu	37	2	105897089	105897089	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr2:105897089G>A	ENST00000393359.2	-	6	1639	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.H405Y			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	405					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCGTACTCATGAAGAGGAGGG	0.587																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	dbGAP											0													102.0	94.0	97.0					2																	105897089		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1213C>T	2.37:g.105897089G>A	ENSP00000377027:p.His405Tyr		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.H405Y	ENST00000393359.2	37	c.1213	CCDS2067.1	2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746649	0.89663	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.44083	0.93;0.93	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	P	0.62089	0.898	T	0.63296	-0.6669	10	0.59425	D	0.04	-29.5683	18.9426	0.92610	0.0:0.0:1.0:0.0	.	405	Q8WUH2	TGFA1_HUMAN	Y	405	ENSP00000377027:H405Y;ENSP00000258449:H405Y	ENSP00000258449:H405Y	H	-	1	0	TGFBRAP1	105263521	1.000000	0.71417	0.895000	0.35142	0.940000	0.58332	9.777000	0.99008	2.463000	0.83235	0.650000	0.86243	CAT	TGFBRAP1	-	NULL	ENSG00000135966		0.587	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	HGNC	protein_coding	OTTHUMT00000253354.2	112	0.00	0	G	NM_004257		105897089	105897089	-1	no_errors	ENST00000258449	ensembl	human	known	69_37n	missense	215	11.52	28	SNP	1.000	A
TMCO6	55374	genome.wustl.edu	37	5	140022500	140022500	+	Intron	SNP	C	C	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr5:140022500C>T	ENST00000394671.3	+	7	790				NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.S233F|TMCO6_ENST00000537378.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6						protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCTGCTTCTGCCAGCAGC	0.562																																						dbGAP											0													96.0	99.0	98.0					5																	140022500		2058	4209	6267	-	-	-	SO:0001627	intron_variant	0			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.690-10C>T	5.37:g.140022500C>T			Q9BUU0|Q9P198	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB	p.S233F	ENST00000394671.3	37	c.698	CCDS4233.2	5	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990139	0.74589	.	.	ENSG00000113119	ENST00000252100	T	0.19250	2.16	5.67	3.86	0.44501	.	.	.	.	.	T	0.18425	0.0442	.	.	.	0.80722	D	1	B	0.13145	0.007	B	0.14578	0.011	T	0.04005	-1.0985	8	0.62326	D	0.03	-4.4532	10.9434	0.47287	0.0:0.8409:0.0:0.1591	.	233	Q96DC7-2	.	F	233	ENSP00000252100:S233F	ENSP00000252100:S233F	S	+	2	0	TMCO6	140002684	0.998000	0.40836	0.711000	0.30485	0.914000	0.54420	1.960000	0.40422	1.387000	0.46486	0.555000	0.69702	TCT	TMCO6	-	superfamily_ARM-type_fold	ENSG00000113119		0.562	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO6	HGNC	protein_coding	OTTHUMT00000251666.2	76	0.00	0	C	NM_018502		140022500	140022500	+1	no_errors	ENST00000252100	ensembl	human	known	69_37n	missense	135	15.09	24	SNP	0.990	T
VWA8	23078	genome.wustl.edu	37	13	42149921	42149921	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr13:42149921C>T	ENST00000379310.3	-	43	5393	c.5325G>A	c.(5323-5325)atG>atA	p.M1775I		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1775	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GGATTTTGTTCATTGGAACCA	0.358																																						dbGAP											0													141.0	132.0	135.0					13																	42149921		1848	4095	5943	-	-	-	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5325G>A	13.37:g.42149921C>T	ENSP00000368612:p.Met1775Ile		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.M1775I	ENST00000379310.3	37	c.5325	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	4.378	0.069679	0.08436	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.12984	2.63	5.86	-11.7	0.00046	von Willebrand factor, type A (3);	1.871750	0.01863	N	0.036703	T	0.08088	0.0202	N	0.22421	0.69	0.19945	N	0.999942	B	0.02656	0.0	B	0.01281	0.0	T	0.08391	-1.0724	10	0.21540	T	0.41	.	12.2013	0.54326	0.2122:0.6095:0.0513:0.127	.	1775	A3KMH1	K0564_HUMAN	I	1679;1775	ENSP00000368612:M1775I	ENSP00000251030:M1679I	M	-	3	0	KIAA0564	41047921	0.004000	0.15560	0.000000	0.03702	0.428000	0.31595	-0.372000	0.07504	-2.349000	0.00618	-1.176000	0.01726	ATG	VWA8	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000102763		0.358	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	229	0.00	0	C	NM_015058		42149921	42149921	-1	no_errors	ENST00000379310	ensembl	human	known	69_37n	missense	142	48.55	134	SNP	0.000	T
WDR70	55100	genome.wustl.edu	37	5	37605229	37605229	+	Silent	SNP	G	G	A			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr5:37605229G>A	ENST00000265107.4	+	10	1137	c.981G>A	c.(979-981)acG>acA	p.T327T	WDR70_ENST00000504564.1_Silent_p.T327T|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	327							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACCACGGACGATGCAAGGCA	0.408																																						dbGAP											0													91.0	81.0	84.0					5																	37605229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.981G>A	5.37:g.37605229G>A			Q9H053	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T327	ENST00000265107.4	37	c.981	CCDS34147.1	5																																																																																			WDR70	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000082068		0.408	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	96	0.00	0	G	NM_018034		37605229	37605229	+1	no_errors	ENST00000265107	ensembl	human	known	69_37n	silent	145	11.04	18	SNP	0.185	A
XIRP1	165904	genome.wustl.edu	37	3	39226889	39226889	+	Missense_Mutation	SNP	G	G	A	rs549103121	byFrequency	TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr3:39226889G>A	ENST00000340369.3	-	2	4276	c.4048C>T	c.(4048-4050)Ccc>Tcc	p.P1350S	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P33S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1350	Pro-rich.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAAAAGCTGGGAGATAGAGGC	0.592																																						dbGAP											0													64.0	64.0	64.0					3																	39226889		2203	4300	6503	-	-	-	SO:0001583	missense	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4048C>T	3.37:g.39226889G>A	ENSP00000343140:p.Pro1350Ser		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.P1350S	ENST00000340369.3	37	c.4048	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	G	5.865	0.343760	0.11126	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.20069	3.87;2.1	3.41	0.598	0.17512	.	3.412040	0.01149	U	0.006363	T	0.20292	0.0488	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.24621	-1.0155	10	0.52906	T	0.07	.	5.5607	0.17142	0.374:0.0:0.626:0.0	.	1350	Q702N8	XIRP1_HUMAN	S	1350;33	ENSP00000343140:P1350S;ENSP00000391645:P33S	ENSP00000343140:P1350S	P	-	1	0	XIRP1	39201893	0.017000	0.18338	0.000000	0.03702	0.022000	0.10575	1.047000	0.30367	0.111000	0.17947	0.655000	0.94253	CCC	XIRP1	-	NULL	ENSG00000168334		0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	63	0.00	0	G	XM_093522		39226889	39226889	-1	no_errors	ENST00000340369	ensembl	human	known	69_37n	missense	68	20.00	17	SNP	0.000	A
ZC3HAV1	56829	genome.wustl.edu	37	7	138764558	138764559	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr7:138764558_138764559delAC	ENST00000242351.5	-	4	1444_1445	c.1128_1129delGT	c.(1126-1131)gtgtttfs	p.F377fs	ZC3HAV1_ENST00000464606.1_Frame_Shift_Del_p.F377fs|ZC3HAV1_ENST00000471652.1_Frame_Shift_Del_p.F377fs	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	377					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GTGGGAGAAAACACAGTCTTTC	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1128_1129delGT	7.37:g.138764560_138764561delAC	ENSP00000242351:p.Phe377fs		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Frame_Shift_Del	DEL	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.P379fs	ENST00000242351.5	37	c.1129_1128	CCDS5851.1	7																																																																																			ZC3HAV1	-	NULL	ENSG00000105939		0.545	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	73	0.00	0	AC	NM_020119		138764558	138764559	-1	no_errors	ENST00000242351	ensembl	human	known	69_37n	frame_shift_del	89	14.42	15	DEL	0.043:0.036	-
ZKSCAN2	342357	genome.wustl.edu	37	16	25266659	25266659	+	Missense_Mutation	SNP	C	C	T	rs571004941		TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr16:25266659C>T	ENST00000328086.7	-	2	1257	c.454G>A	c.(454-456)Gtg>Atg	p.V152M		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	152					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AAGTCTGCCACCTCCCACGCT	0.592																																						dbGAP											0													55.0	50.0	52.0					16																	25266659		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.454G>A	16.37:g.25266659C>T	ENSP00000331626:p.Val152Met		A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.V152M	ENST00000328086.7	37	c.454	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	C	4.342	0.062816	0.08388	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.14391	2.51	5.3	-0.373	0.12516	Transcription regulator SCAN (1);	0.613625	0.15523	N	0.257935	T	0.12305	0.0299	M	0.61703	1.905	0.09310	N	1	B;B	0.15930	0.005;0.015	B;B	0.19148	0.02;0.024	T	0.23154	-1.0196	10	0.45353	T	0.12	-4.733	4.0819	0.09931	0.1523:0.5081:0.0:0.3396	.	152;152	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	M	152	ENSP00000331626:V152M	ENSP00000331626:V152M	V	-	1	0	ZKSCAN2	25174160	0.006000	0.16342	0.037000	0.18230	0.006000	0.05464	0.305000	0.19254	0.065000	0.16485	-2.126000	0.00345	GTG	ZKSCAN2	-	smart_Tscrpt_reg_SCAN	ENSG00000155592		0.592	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	30	0.00	0	C	NM_001012981		25266659	25266659	-1	no_errors	ENST00000328086	ensembl	human	known	69_37n	missense	49	25.76	17	SNP	0.013	T
ZFHX3	463	genome.wustl.edu	37	16	72984482	72984482	+	Silent	SNP	G	G	A	rs150708280	byFrequency	TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr16:72984482G>A	ENST00000268489.5	-	3	3774	c.3102C>T	c.(3100-3102)atC>atT	p.I1034I	ZFHX3_ENST00000397992.5_Silent_p.I120I	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1034					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGGGTTGCCGATGGCCACAC	0.612													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19135	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													148.0	111.0	124.0					16																	72984482		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3102C>T	16.37:g.72984482G>A			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.I1034	ENST00000268489.5	37	c.3102	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.612	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	29	0.00	0	G	NM_006885		72984482	72984482	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	silent	41	41.43	29	SNP	0.985	A
ZNF780B	163131	genome.wustl.edu	37	19	40541078	40541078	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14Z-01A-11D-A10Y-09	TCGA-E2-A14Z-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c83eaaca-ced5-4630-abb5-ef34db888753	ef3b19d2-804c-4f88-bfc7-b0057d166e81	g.chr19:40541078C>T	ENST00000434248.1	-	5	1753	c.1688G>A	c.(1687-1689)gGg>gAg	p.G563E	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G415E	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	563					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(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAGAATTTCCCACATTCCTT	0.393																																						dbGAP											0													82.0	90.0	87.0					19																	40541078		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1688G>A	19.37:g.40541078C>T	ENSP00000391641:p.Gly563Glu		B9EH00	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.G563E	ENST00000434248.1	37	c.1688	CCDS46077.1	19	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290020	0.80914	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.20463	2.07;2.07	2.55	2.55	0.30701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37732	0.1014	L	0.54863	1.705	0.35104	D	0.765542	D	0.89917	1.0	D	0.75484	0.986	T	0.49890	-0.8891	9	0.56958	D	0.05	.	10.4621	0.44585	0.0:1.0:0.0:0.0	.	563	Q9Y6R6	Z780B_HUMAN	E	563;415	ENSP00000391641:G563E;ENSP00000221355:G415E	ENSP00000221355:G415E	G	-	2	0	ZNF780B	45232918	0.152000	0.22762	0.578000	0.28575	0.885000	0.51271	0.331000	0.19733	1.249000	0.43950	0.448000	0.29417	GGG	ZNF780B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000128000		0.393	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	120	0.00	0	C	NM_001005851		40541078	40541078	-1	no_errors	ENST00000434248	ensembl	human	known	69_37n	missense	164	11.29	21	SNP	1.000	T
