#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA10	10349	genome.wustl.edu	37	17	67181631	67181631	+	Silent	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr17:67181631G>A	ENST00000269081.4	-	21	3393	c.2484C>T	c.(2482-2484)atC>atT	p.I828I	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	828					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATTATTAACGATTAACAGGC	0.363																																						dbGAP											0													65.0	64.0	64.0					17																	67181631		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2484C>T	17.37:g.67181631G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I828	ENST00000269081.4	37	c.2484	CCDS11684.1	17																																																																																			ABCA10	-	NULL	ENSG00000154263		0.363	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	146	0.68	1	G	NM_080282		67181631	67181631	-1	no_errors	ENST00000269081	ensembl	human	known	69_37n	silent	124	41.78	89	SNP	0.337	A
ANKRD28	23243	genome.wustl.edu	37	3	15755061	15755061	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr3:15755061A>G	ENST00000399451.2	-	10	1440	c.1073T>C	c.(1072-1074)cTt>cCt	p.L358P	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.L391P	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	358						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ACTTGTAATAAGAGTGTTGAT	0.443																																						dbGAP											0													199.0	187.0	191.0					3																	15755061		1960	4147	6107	-	-	-	SO:0001583	missense	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1073T>C	3.37:g.15755061A>G	ENSP00000382379:p.Leu358Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L391P	ENST00000399451.2	37	c.1172	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599092	0.87055	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	D;D;D	0.90197	-2.63;-2.63;-2.63	5.39	5.39	0.77823	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.97632	0.9224	H	0.99444	4.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99501	1.0953	10	0.87932	D	0	.	15.7067	0.77588	1.0:0.0:0.0:0.0	.	391;388;358	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	P	358;391;358	ENSP00000382379:L358P;ENSP00000373287:L391P;ENSP00000397341:L358P	ENSP00000373287:L391P	L	-	2	0	ANKRD28	15730065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.168000	0.94781	2.168000	0.68352	0.533000	0.62120	CTT	ANKRD28	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.443	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	133	0.00	0	A	NM_015199		15755061	15755061	-1	no_errors	ENST00000383777	ensembl	human	known	69_37n	missense	45	80.35	184	SNP	1.000	G
ARID1B	57492	genome.wustl.edu	37	6	157528561	157528561	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr6:157528561G>T	ENST00000350026.5	+	19	6248	c.6247G>T	c.(6247-6249)Gtg>Ttg	p.V2083L	ARID1B_ENST00000367148.1_Missense_Mutation_p.V2136L|ARID1B_ENST00000346085.5_Missense_Mutation_p.V2096L|ARID1B_ENST00000275248.4_Missense_Mutation_p.V2078L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2083					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGACAATAATGTGGACCTGAT	0.498																																						dbGAP											0													202.0	211.0	208.0					6																	157528561		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6247G>T	6.37:g.157528561G>T	ENSP00000055163:p.Val2083Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.V2136L	ENST00000350026.5	37	c.6406	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792398	0.50102	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.26	5.26	0.73747	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	M	0.83012	2.62	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.996	D;D;D	0.80764	0.994;0.99;0.99	T	0.65813	-0.6077	10	0.87932	D	0	.	19.2386	0.93873	0.0:0.0:1.0:0.0	.	2083;2096;2078	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	L	2096;2083;2136;2078;1605	ENSP00000344546:V2096L;ENSP00000055163:V2083L;ENSP00000356116:V2136L;ENSP00000275248:V2078L;ENSP00000412835:V1605L	ENSP00000275248:V2078L	V	+	1	0	ARID1B	157570253	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	9.803000	0.99136	2.607000	0.88179	0.655000	0.94253	GTG	ARID1B	-	pfam_DUF3518,superfamily_ARM-type_fold	ENSG00000049618		0.498	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	241	0.00	0	G	NM_020732		157528561	157528561	+1	no_errors	ENST00000367148	ensembl	human	known	69_37n	missense	176	18.89	41	SNP	1.000	T
BRD1	23774	genome.wustl.edu	37	22	50192208	50192209	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr22:50192208_50192209CC>AT	ENST00000216267.8	-	4	2268_2269	c.1782_1783GG>AT	c.(1780-1785)aaGGag>aaATag	p.E595*	BRD1_ENST00000457780.2_Nonsense_Mutation_p.E595*|BRD1_ENST00000342989.5_Nonsense_Mutation_p.E190*|BRD1_ENST00000404034.1_Nonsense_Mutation_p.E595*|BRD1_ENST00000542442.1_Intron|BRD1_ENST00000404760.1_Nonsense_Mutation_p.E595*	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	595	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACACCCACCTCCTTCAGACTCA	0.609																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1782_1783delinsAT	22.37:g.50192208_50192209delinsAT	ENSP00000216267:p.Glu595*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ZJA4	Nonsense_Mutation|Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.E595*|p.K594	ENST00000216267.8	37	c.1783|c.1782	CCDS14080.1	22																																																																																			BRD1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000100425		0.609	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	26	0.00	0	C	NM_014577		50192208|50192209	50192208|50192209	-1	no_errors	ENST00000216267	ensembl	human	known	69_37n	nonsense|silent	38|37	15.56|15.91	7	SNP	1.000	A|T
BTG4	54766	genome.wustl.edu	37	11	111367981	111367981	+	Silent	SNP	T	T	C			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr11:111367981T>C	ENST00000356018.2	-	4	664	c.465A>G	c.(463-465)gaA>gaG	p.E155E	BTG4_ENST00000525791.1_Silent_p.E155E	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	155					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		TGACACGAGGTTCCTTGCTAC	0.388																																						dbGAP											0													158.0	155.0	156.0					11																	111367981		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.465A>G	11.37:g.111367981T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEH7	Silent	SNP	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.E155	ENST00000356018.2	37	c.465	CCDS8346.1	11																																																																																			BTG4	-	NULL	ENSG00000137707		0.388	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTG4	HGNC	protein_coding	OTTHUMT00000391177.1	281	0.00	0	T			111367981	111367981	-1	no_errors	ENST00000356018	ensembl	human	known	69_37n	silent	230	38.89	147	SNP	0.336	C
CAGE1	285782	genome.wustl.edu	37	6	7373460	7373460	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr6:7373460A>G	ENST00000512086.1	-	5	1794	c.1592T>C	c.(1591-1593)aTa>aCa	p.I531T	CAGE1_ENST00000338150.4_Missense_Mutation_p.I531T|CAGE1_ENST00000379918.4_Missense_Mutation_p.I531T|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000296742.7_Missense_Mutation_p.I395T|CAGE1_ENST00000502583.1_Missense_Mutation_p.I531T			Q8TC20	CAGE1_HUMAN	cancer antigen 1	531										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTGAAGTTTTATATTCTTCGT	0.333																																						dbGAP											0													124.0	98.0	106.0					6																	7373460		1818	4072	5890	-	-	-	SO:0001583	missense	0			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1592T>C	6.37:g.7373460A>G	ENSP00000427583:p.Ile531Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	NULL	p.I531T	ENST00000512086.1	37	c.1592		6	.	.	.	.	.	.	.	.	.	.	A	1.908	-0.451306	0.04572	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.28895	1.61;1.6;1.6;1.59;1.59;1.59	5.38	-3.77	0.04346	.	2.713600	0.00864	N	0.001951	T	0.03651	0.0104	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.13594	0.008;0.002;0.002	B;B;B	0.08055	0.003;0.002;0.001	T	0.15954	-1.0419	10	0.13853	T	0.58	11.749	6.629	0.22847	0.5759:0.0:0.2935:0.1306	.	531;531;531	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	T	531;531;531;395;531;531;531;543	ENSP00000369250:I531T;ENSP00000425493:I531T;ENSP00000296742:I395T;ENSP00000427583:I531T;ENSP00000338107:I531T;ENSP00000423789:I543T	ENSP00000296742:I395T	I	-	2	0	CAGE1	7318459	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.684000	0.05173	-0.855000	0.04125	-0.353000	0.07706	ATA	CAGE1	-	NULL	ENSG00000164304		0.333	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	HGNC	protein_coding	OTTHUMT00000367136.1	33	0.00	0	A	NM_175745		7373460	7373460	-1	no_errors	ENST00000338150	ensembl	human	known	69_37n	missense	72	22.58	21	SNP	0.000	G
CCDC27	148870	genome.wustl.edu	37	1	3670779	3670779	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr1:3670779C>T	ENST00000294600.2	+	2	500	c.416C>T	c.(415-417)aCc>aTc	p.T139I		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	139										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CAGTTCAGCACCAGGGCCACA	0.622																																						dbGAP											0													123.0	122.0	122.0					1																	3670779		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.416C>T	1.37:g.3670779C>T	ENSP00000294600:p.Thr139Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TBV3|Q96M50	Missense_Mutation	SNP	superfamily_Prefoldin	p.T139I	ENST00000294600.2	37	c.416	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	c	2.062	-0.415154	0.04766	.	.	ENSG00000162592	ENST00000294600	T	0.25085	1.82	3.48	2.57	0.30868	.	0.174239	0.27871	N	0.017505	T	0.35307	0.0927	L	0.32530	0.975	0.22940	N	0.998532	D	0.89917	1.0	D	0.87578	0.998	T	0.03728	-1.1009	10	0.87932	D	0	-46.8935	9.039	0.36305	0.0:0.774:0.226:0.0	.	139	Q2M243	CCD27_HUMAN	I	139	ENSP00000294600:T139I	ENSP00000294600:T139I	T	+	2	0	CCDC27	3660639	0.963000	0.33076	0.989000	0.46669	0.181000	0.23173	0.304000	0.19228	1.060000	0.40578	-0.167000	0.13348	ACC	CCDC27	-	NULL	ENSG00000162592		0.622	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1	35	0.00	0	C	NM_152492		3670779	3670779	+1	no_errors	ENST00000294600	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	0.991	T
CD80	941	genome.wustl.edu	37	3	119263560	119263560	+	Silent	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr3:119263560G>A	ENST00000264246.3	-	3	617	c.255C>T	c.(253-255)ccC>ccT	p.P85P	CD80_ENST00000383668.3_Silent_p.P85P|CD80_ENST00000478182.1_Silent_p.P85P|CD80_ENST00000383669.3_Silent_p.P85P	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	85	Ig-like V-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	TCTTGTACTCGGGCCATATAT	0.468																																					Melanoma(132;135 1764 1806 5833 14593)	dbGAP											0													173.0	157.0	163.0					3																	119263560		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.255C>T	3.37:g.119263560G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DTA9|Q5DTB0	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like	p.P85	ENST00000264246.3	37	c.255	CCDS2989.1	3																																																																																			CD80	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000121594		0.468	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD80	HGNC	protein_coding	OTTHUMT00000355196.1	135	0.00	0	G	NM_005191		119263560	119263560	-1	no_errors	ENST00000264246	ensembl	human	known	69_37n	silent	135	16.67	27	SNP	0.000	A
CDH11	1009	genome.wustl.edu	37	16	64984859	64984859	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr16:64984859G>A	ENST00000268603.4	-	12	2320	c.1705C>T	c.(1705-1707)Ctt>Ttt	p.L569F	CDH11_ENST00000394156.3_Missense_Mutation_p.L569F|CDH11_ENST00000566827.1_Missense_Mutation_p.L443F	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	569	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATGGGCAGAAGGTACAAGTCC	0.607			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												dbGAP		Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													88.0	78.0	81.0					16																	64984859		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1705C>T	16.37:g.64984859G>A	ENSP00000268603:p.Leu569Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L569F	ENST00000268603.4	37	c.1705	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401010	0.42613	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.61627	2.05;0.09	5.55	5.55	0.83447	Cadherin (3);Cadherin-like (1);	0.186323	0.45126	D	0.000394	T	0.46737	0.1408	L	0.41573	1.285	0.50171	D	0.999851	B;B	0.21606	0.058;0.003	B;B	0.18561	0.022;0.003	T	0.35226	-0.9797	10	0.23891	T	0.37	.	11.8967	0.52659	0.0792:0.0:0.9208:0.0	.	569;569	P55287-2;P55287	.;CAD11_HUMAN	F	569;569;552	ENSP00000268603:L569F;ENSP00000377711:L569F	ENSP00000268603:L569F	L	-	1	0	CDH11	63542360	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.632000	0.54287	2.594000	0.87642	0.655000	0.94253	CTT	CDH11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.607	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	32	0.00	0	G	NM_033664		64984859	64984859	-1	no_errors	ENST00000268603	ensembl	human	known	69_37n	missense	40	21.57	11	SNP	1.000	A
CELF4	56853	genome.wustl.edu	37	18	34850769	34850769	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr18:34850769G>A	ENST00000591282.1	-	8	1060	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000420428.2_Missense_Mutation_p.A354V|CELF4_ENST00000603232.1_Missense_Mutation_p.A353V|CELF4_ENST00000591287.1_Missense_Mutation_p.A353V|CELF4_ENST00000601019.1_Missense_Mutation_p.A352V|CELF4_ENST00000588597.1_Missense_Mutation_p.A343V|CELF4_ENST00000334919.5_Missense_Mutation_p.A344V|CELF4_ENST00000412753.1_Missense_Mutation_p.A353V|CELF4_ENST00000361795.5_Missense_Mutation_p.A352V			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	354					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CACAGCTTCCGCAGCAGGTTG	0.587																																						dbGAP											0													87.0	73.0	78.0					18																	34850769		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1061C>T	18.37:g.34850769G>A	ENSP00000464794:p.Ala354Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A354V	ENST00000591282.1	37	c.1061	CCDS32818.1	18	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392507	0.62066	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T	0.75589	-0.95;-0.83;-0.88	4.66	4.66	0.58398	.	0.117745	0.56097	D	0.000021	T	0.73590	0.3606	L	0.40543	1.245	0.80722	D	1	B;P;D;B;B;P	0.60160	0.076;0.95;0.987;0.09;0.076;0.642	B;B;P;B;B;B	0.51415	0.013;0.385;0.669;0.065;0.021;0.154	T	0.69760	-0.5058	10	0.19147	T	0.46	-4.4147	17.7309	0.88377	0.0:0.0:1.0:0.0	.	352;343;79;344;353;354	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;.;CELF4_HUMAN	V	354;353;352;344	ENSP00000355089:A354V;ENSP00000406823:A353V;ENSP00000335631:A344V	ENSP00000335631:A344V	A	-	2	0	CELF4	33104767	1.000000	0.71417	0.969000	0.41365	0.957000	0.61999	7.423000	0.80229	2.409000	0.81822	0.557000	0.71058	GCG	CELF4	-	NULL	ENSG00000101489		0.587	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF4	HGNC	protein_coding	OTTHUMT00000440892.1	38	0.00	0	G	NM_020180		34850769	34850769	-1	no_errors	ENST00000361795	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	1.000	A
CHD6	84181	genome.wustl.edu	37	20	40081463	40081463	+	Silent	SNP	C	C	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr20:40081463C>T	ENST00000373233.3	-	21	3417	c.3240G>A	c.(3238-3240)acG>acA	p.T1080T	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1080					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCCTGGATCTCGTGGGCCTTT	0.547																																						dbGAP											0													145.0	120.0	129.0					20																	40081463		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3240G>A	20.37:g.40081463C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.T1080	ENST00000373233.3	37	c.3240	CCDS13317.1	20																																																																																			CHD6	-	NULL	ENSG00000124177		0.547	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	128	0.00	0	C			40081463	40081463	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	silent	176	11.56	23	SNP	0.052	T
CIITA	4261	genome.wustl.edu	37	16	10995394	10995394	+	Missense_Mutation	SNP	G	G	C	rs76923280	byFrequency	TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr16:10995394G>C	ENST00000324288.8	+	6	593	c.460G>C	c.(460-462)Gac>Cac	p.D154H	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.D154H	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	154					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCTTCCGGCAGACCTGAAGCA	0.612			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	dbGAP		Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													46.0	41.0	43.0					16																	10995394		2197	4300	6497	-	-	-	SO:0001583	missense	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.460G>C	16.37:g.10995394G>C	ENSP00000316328:p.Asp154His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.D154H	ENST00000324288.8	37	c.460	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947837	0.34377	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.79454	-1.27;1.24	3.22	3.22	0.36961	.	0.320093	0.21833	N	0.068455	T	0.80529	0.4640	L	0.38838	1.175	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.99;1.0	D;P;P;P;P;D	0.80764	0.994;0.907;0.864;0.864;0.908;0.976	T	0.69176	-0.5214	10	0.66056	D	0.02	.	10.2256	0.43222	0.0:0.0:1.0:0.0	.	154;154;154;154;155;154	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	H	154;154;155;154	ENSP00000316328:D154H;ENSP00000371257:D154H	ENSP00000316328:D154H	D	+	1	0	CIITA	10902895	0.459000	0.25768	0.073000	0.20177	0.882000	0.50991	3.694000	0.54742	2.126000	0.65437	0.462000	0.41574	GAC	CIITA	-	NULL	ENSG00000179583		0.612	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	27	0.00	0	G	NM_000246		10995394	10995394	+1	no_errors	ENST00000324288	ensembl	human	known	69_37n	missense	196	24.03	62	SNP	0.078	C
DPP3	10072	genome.wustl.edu	37	11	66259056	66259056	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr11:66259056C>T	ENST00000360510.2	+	8	955	c.890C>T	c.(889-891)tCc>tTc	p.S297F	DPP3_ENST00000541961.1_Missense_Mutation_p.S297F|DPP3_ENST00000532677.1_Missense_Mutation_p.S316F|DPP3_ENST00000530165.1_Missense_Mutation_p.S267F|DPP3_ENST00000453114.1_Missense_Mutation_p.S297F|DPP3_ENST00000531863.1_Missense_Mutation_p.S317F			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	297					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AAGAGGGGCTCCCGCTTCTGG	0.652											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													36.0	43.0	40.0					11																	66259056		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.890C>T	11.37:g.66259056C>T	ENSP00000353701:p.Ser297Phe	Somatic	1090	WXS	Illumina GAIIx	Phase_IV	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	pirsf_Pept_49_dipeptidyl-pept-3_euk	p.S297F	ENST00000360510.2	37	c.890	CCDS8141.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.069653	0.93950	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66709	-0.5855	10	0.87932	D	0	.	16.5915	0.84766	0.0:1.0:0.0:0.0	.	316;297	G3V1D3;Q9NY33	.;DPP3_HUMAN	F	317;316;297;297;297;267;195	ENSP00000432782:S317F;ENSP00000435284:S316F;ENSP00000353701:S297F;ENSP00000389943:S297F;ENSP00000440502:S297F;ENSP00000436941:S267F	ENSP00000353701:S297F	S	+	2	0	DPP3	66015632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.129000	0.64739	2.583000	0.87209	0.655000	0.94253	TCC	DPP3	-	pirsf_Pept_49_dipeptidyl-pept-3_euk	ENSG00000254986		0.652	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	HGNC	protein_coding	OTTHUMT00000393424.2	35	0.00	0	C			66259056	66259056	+1	no_errors	ENST00000360510	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	T
DUSP27	92235	genome.wustl.edu	37	1	167088559	167088559	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr1:167088559G>A	ENST00000361200.2	+	5	677	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	DUSP27_ENST00000271385.5_Missense_Mutation_p.G171S|DUSP27_ENST00000443333.1_Missense_Mutation_p.G171S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	171					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCATGGCACCGGCGTTTACAC	0.567																																						dbGAP											0													125.0	114.0	118.0					1																	167088559		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.511G>A	1.37:g.167088559G>A	ENSP00000354483:p.Gly171Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.G171S	ENST00000361200.2	37	c.511	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453686	0.84209	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.59638	0.25;0.25;0.25	5.18	5.18	0.71444	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.120443	0.56097	D	0.000031	T	0.57036	0.2026	L	0.37561	1.115	0.50632	D	0.999887	D	0.89917	1.0	D	0.72338	0.977	T	0.60826	-0.7186	10	0.52906	T	0.07	-24.2341	12.085	0.53691	0.079:0.0:0.921:0.0	.	171	Q5VZP5	DUS27_HUMAN	S	171	ENSP00000354483:G171S;ENSP00000271385:G171S;ENSP00000404874:G171S	ENSP00000271385:G171S	G	+	1	0	DUSP27	165355183	1.000000	0.71417	0.145000	0.22337	0.803000	0.45373	7.690000	0.84178	2.390000	0.81377	0.591000	0.81541	GGC	DUSP27	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000198842		0.567	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	34	0.00	0	G	NM_001080426		167088559	167088559	+1	no_errors	ENST00000271385	ensembl	human	known	69_37n	missense	74	13.79	12	SNP	0.992	A
EMB	133418	genome.wustl.edu	37	5	49695122	49695122	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr5:49695122C>A	ENST00000303221.5	-	9	1184	c.969G>T	c.(967-969)gaG>gaT	p.E323D	EMB_ENST00000508934.1_Missense_Mutation_p.E269D|EMB_ENST00000514111.1_Missense_Mutation_p.E273D	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	323					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GGCCCAGAGACTCCTGAGTTA	0.338																																						dbGAP											0													47.0	44.0	45.0					5																	49695122		2202	4294	6496	-	-	-	SO:0001583	missense	0			BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.969G>T	5.37:g.49695122C>A	ENSP00000302289:p.Glu323Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6S3|B7Z902	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.E323D	ENST00000303221.5	37	c.969	CCDS3953.1	5	.	.	.	.	.	.	.	.	.	.	C	0.089	-1.169930	0.01660	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.46819	0.86;0.9;0.91	4.5	-2.74	0.05932	.	0.646547	0.13330	N	0.396029	T	0.24198	0.0586	L	0.29908	0.895	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.14839	-1.0458	9	.	.	.	-0.9108	0.096	0.00044	0.2994:0.1874:0.1656:0.3476	.	269;323	D6RDX7;Q6PCB8	.;EMB_HUMAN	D	323;295;269;273	ENSP00000302289:E323D;ENSP00000425215:E269D;ENSP00000426404:E273D	.	E	-	3	2	EMB	49730879	0.000000	0.05858	0.034000	0.17996	0.098000	0.18820	-0.996000	0.03709	-0.550000	0.06183	-1.276000	0.01395	GAG	EMB	-	NULL	ENSG00000170571		0.338	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMB	HGNC	protein_coding	OTTHUMT00000253853.1	106	0.00	0	C	NM_198449		49695122	49695122	-1	no_errors	ENST00000303221	ensembl	human	known	69_37n	missense	115	22.30	33	SNP	0.034	A
ENTPD1	953	genome.wustl.edu	37	10	97626096	97626096	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr10:97626096C>T	ENST00000371205.4	+	10	1772	c.1489C>T	c.(1489-1491)Ctt>Ttt	p.L497F	ENTPD1_ENST00000543964.1_Missense_Mutation_p.L389F|ENTPD1_ENST00000539125.1_Missense_Mutation_p.L359F|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1_ENST00000371203.5_Missense_Mutation_p.L359F|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1_ENST00000371207.3_Missense_Mutation_p.L509F|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.L504F			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	497					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CATAGGCTTGCTTATCTTTCA	0.458																																						dbGAP											0													169.0	152.0	158.0					10																	97626096		2203	4300	6503	-	-	-	SO:0001583	missense	0			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.1489C>T	10.37:g.97626096C>T	ENSP00000360248:p.Leu497Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.L509F	ENST00000371205.4	37	c.1525	CCDS7444.1	10	.	.	.	.	.	.	.	.	.	.	C	3.201	-0.163755	0.06502	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.12672	2.66;2.66;3.34;3.07;3.07;2.67	6.01	-12.0	0.00017	.	1.189700	0.05852	N	0.621437	T	0.04407	0.0121	N	0.08118	0	0.09310	N	0.999992	B;B;B;B	0.15473	0.006;0.01;0.013;0.006	B;B;B;B	0.15484	0.003;0.006;0.013;0.003	T	0.24261	-1.0165	10	0.22109	T	0.4	0.0777	4.9068	0.13802	0.2663:0.4168:0.2326:0.0843	.	509;509;504;497	B4DWB9;G3XAF6;P49961-2;P49961	.;.;.;ENTP1_HUMAN	F	504;509;389;359;359;497	ENSP00000390955:L504F;ENSP00000360250:L509F;ENSP00000442968:L389F;ENSP00000440027:L359F;ENSP00000360246:L359F;ENSP00000360248:L497F	ENSP00000360246:L359F	L	+	1	0	ENTPD1	97616086	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.673000	0.00397	-3.118000	0.00239	-0.345000	0.07892	CTT	ENTPD1	-	NULL	ENSG00000138185		0.458	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD1	HGNC	protein_coding	OTTHUMT00000049566.1	85	0.00	0	C	NM_001776		97626096	97626096	+1	no_errors	ENST00000371207	ensembl	human	known	69_37n	missense	43	31.75	20	SNP	0.000	T
FAM196A	642938	genome.wustl.edu	37	10	128973678	128973678	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr10:128973678G>C	ENST00000522781.1	-	4	1537	c.982C>G	c.(982-984)Ccg>Gcg	p.P328A	FAM196A_ENST00000424811.2_Missense_Mutation_p.P328A|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	328										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGCCCCGGCGGGGTGTGAGTC	0.637																																						dbGAP											0													78.0	84.0	82.0					10																	128973678		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.982C>G	10.37:g.128973678G>C	ENSP00000429763:p.Pro328Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNT4|B7ZME7	Missense_Mutation	SNP	NULL	p.P328A	ENST00000522781.1	37	c.982	CCDS31312.1	10	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.407489	0.01155	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.41758	0.99;0.99	3.64	0.427	0.16489	.	1.016810	0.07827	N	0.960725	T	0.31451	0.0797	L	0.43152	1.355	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.14578	0.011;0.011	T	0.26916	-1.0089	10	0.30854	T	0.27	.	4.8112	0.13344	0.3411:0.3239:0.335:0.0	.	328;328	B7ZME7;Q6ZSG2	.;F196A_HUMAN	A	328	ENSP00000429763:P328A;ENSP00000428730:P328A	ENSP00000428730:P328A	P	-	1	0	FAM196A	128863668	0.178000	0.23122	0.006000	0.13384	0.014000	0.08584	0.692000	0.25482	0.145000	0.18977	0.563000	0.77884	CCG	FAM196A	-	NULL	ENSG00000188916		0.637	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM196A	HGNC	protein_coding	OTTHUMT00000050978.2	52	0.00	0	G	NM_001039762		128973678	128973678	-1	no_errors	ENST00000522781	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	0.002	C
FXR1	8087	genome.wustl.edu	37	3	180686028	180686031	+	Frame_Shift_Del	DEL	CCTC	CCTC	-			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	CCTC	CCTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr3:180686028_180686031delCCTC	ENST00000357559.4	+	14	1772_1775	c.1388_1391delCCTC	c.(1387-1392)tcctccfs	p.SS463fs	FXR1_ENST00000305586.7_Frame_Shift_Del_p.SS378fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.SS463fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.SS450fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.SS378fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.SS414fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	463					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGTGGCAAATCCTCCATCAGTTCT	0.485																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1388_1391delCCTC	3.37:g.180686028_180686031delCCTC	ENSP00000350170:p.Ser463fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9B8|Q7Z450|Q8N6R8	Frame_Shift_Del	DEL	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1	p.I465fs	ENST00000357559.4	37	c.1388_1391	CCDS3238.1	3																																																																																			FXR1	-	pfam_Frag_X_MRP_fam	ENSG00000114416		0.485	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	73	0.00	0	CCTC			180686028	180686031	+1	no_errors	ENST00000357559	ensembl	human	known	69_37n	frame_shift_del	55	34.52	29	DEL	1.000:0.998:1.000:1.000	-
GP1BA	2811	genome.wustl.edu	37	17	4837204	4837204	+	Silent	SNP	C	C	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr17:4837204C>T	ENST00000329125.5	+	2	1380	c.1305C>T	c.(1303-1305)acC>acT	p.T435T		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	435	Pro/Thr-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						ccagcccgaccaccccagagc	0.736																																						dbGAP											0													2.0	3.0	3.0					17																	4837204		1158	2894	4052	-	-	-	SO:0001819	synonymous_variant	0				CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1305C>T	17.37:g.4837204C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T435	ENST00000329125.5	37	c.1305	CCDS54068.1	17																																																																																			GP1BA	-	NULL	ENSG00000185245		0.736	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP1BA	HGNC	protein_coding	OTTHUMT00000439889.1	17	0.00	0	C			4837204	4837204	+1	no_errors	ENST00000329125	ensembl	human	known	69_37n	silent	5	61.54	8	SNP	0.000	T
GRM1	2911	genome.wustl.edu	37	6	146755726	146755726	+	Missense_Mutation	SNP	G	G	A	rs147964155		TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr6:146755726G>A	ENST00000282753.1	+	8	3614	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K	GRM1_ENST00000361719.2_Missense_Mutation_p.E1127K|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1127	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACTGGAAGAGGAGGAGGAGGA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16629	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													57.0	64.0	62.0					6																	146755726		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3379G>A	6.37:g.146755726G>A	ENSP00000282753:p.Glu1127Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C	p.E1127K	ENST00000282753.1	37	c.3379	CCDS5209.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.60	1.986826	0.35036	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.88124	-2.34;-2.34	5.3	5.3	0.74995	.	0.315023	0.27052	N	0.021175	T	0.72228	0.3434	L	0.34521	1.04	0.80722	D	1	B	0.16603	0.018	B	0.16722	0.016	T	0.70124	-0.4958	10	0.10902	T	0.67	.	18.9455	0.92621	0.0:0.0:1.0:0.0	.	1127	Q13255	GRM1_HUMAN	K	1127	ENSP00000354896:E1127K;ENSP00000282753:E1127K	ENSP00000282753:E1127K	E	+	1	0	GRM1	146797419	1.000000	0.71417	0.897000	0.35233	0.932000	0.56968	8.745000	0.91600	2.489000	0.83994	0.561000	0.74099	GAG	GRM1	-	NULL	ENSG00000152822		0.637	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	63	0.00	0	G	NM_000838		146755726	146755726	+1	no_errors	ENST00000282753	ensembl	human	known	69_37n	missense	61	11.59	8	SNP	0.995	A
HGF	3082	genome.wustl.edu	37	7	81346551	81346551	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr7:81346551G>A	ENST00000222390.5	-	11	1628	c.1402C>T	c.(1402-1404)Cgt>Tgt	p.R468C	HGF_ENST00000457544.2_Missense_Mutation_p.R463C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	468	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TACTTACAACGAGAAATAGGG	0.383																																						dbGAP											0													170.0	140.0	150.0					7																	81346551		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1402C>T	7.37:g.81346551G>A	ENSP00000222390:p.Arg468Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R468C	ENST00000222390.5	37	c.1402	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456082	0.84209	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.68181	-0.31;-0.31	6.02	6.02	0.97574	Kringle (4);Kringle-like fold (1);	0.051381	0.85682	D	0.000000	T	0.81758	0.4890	M	0.87381	2.88	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.59643	0.782;0.861	D	0.83659	0.0160	10	0.56958	D	0.05	.	15.2844	0.73816	0.0:0.0:0.8599:0.14	.	463;468	P14210-3;P14210	.;HGF_HUMAN	C	468;463	ENSP00000222390:R468C;ENSP00000391238:R463C	ENSP00000222390:R468C	R	-	1	0	HGF	81184487	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.758000	0.55220	2.850000	0.98022	0.650000	0.86243	CGT	HGF	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000019991		0.383	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	157	0.00	0	G	NM_000601		81346551	81346551	-1	no_errors	ENST00000222390	ensembl	human	known	69_37n	missense	191	25.10	64	SNP	1.000	A
HMHA1	23526	genome.wustl.edu	37	19	1079999	1079999	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr19:1079999G>C	ENST00000313093.2	+	13	1816	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	HMHA1_ENST00000536472.1_Missense_Mutation_p.E369Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.E533Q|HMHA1_ENST00000590577.1_Missense_Mutation_p.E164Q|HMHA1_ENST00000543365.1_Missense_Mutation_p.E412Q|HMHA1_ENST00000590214.1_Missense_Mutation_p.E556Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.E545Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	529					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGCTGTGTGAGAGCAGCAA	0.647																																						dbGAP											0													72.0	73.0	73.0					19																	1079999		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1585G>C	19.37:g.1079999G>C	ENSP00000316772:p.Glu529Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.E529Q	ENST00000313093.2	37	c.1585	CCDS32863.1	19	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036896	0.93630	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.25	4.25	0.50352	.	0.000000	0.85682	U	0.000000	T	0.65544	0.2701	M	0.84326	2.69	0.51233	D	0.999911	D;D;D;D;D	0.89917	1.0;0.999;0.996;0.999;0.998	D;D;P;D;P	0.69824	0.966;0.961;0.904;0.93;0.852	T	0.72027	-0.4414	10	0.66056	D	0.02	-17.1811	14.1291	0.65240	0.0:0.0:1.0:0.0	.	369;545;164;412;529	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	Q	545;529;529;369;523;412	ENSP00000439601:E545Q;ENSP00000316772:E529Q;ENSP00000445109:E369Q;ENSP00000438979:E412Q	ENSP00000316772:E529Q	E	+	1	0	HMHA1	1030999	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.806000	0.69150	1.929000	0.55896	0.561000	0.74099	GAG	HMHA1	-	NULL	ENSG00000180448		0.647	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	18	0.00	0	G			1079999	1079999	+1	no_errors	ENST00000313093	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	C
HPDL	84842	genome.wustl.edu	37	1	45793452	45793452	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr1:45793452G>T	ENST00000334815.3	+	1	908	c.632G>T	c.(631-633)gGa>gTa	p.G211V		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	211					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					GGGCTTGGGGGACTGAGGCTT	0.647																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"""glyoxalase domain containing 1"""	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.632G>T	1.37:g.45793452G>T	ENSP00000335060:p.Gly211Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9B0	Missense_Mutation	SNP	pirsf_4OHPhenylPyrv_dOase	p.G211V	ENST00000334815.3	37	c.632	CCDS519.1	1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980635	0.53827	.	.	ENSG00000186603	ENST00000334815	T	0.64085	-0.08	5.31	5.31	0.75309	.	0.056069	0.64402	D	0.000001	D	0.85427	0.5694	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89086	0.3479	10	0.87932	D	0	-19.0628	19.1585	0.93522	0.0:0.0:1.0:0.0	.	211	Q96IR7	HPDL_HUMAN	V	211	ENSP00000335060:G211V	ENSP00000335060:G211V	G	+	2	0	HPDL	45566039	1.000000	0.71417	0.961000	0.40146	0.118000	0.20060	6.085000	0.71343	2.759000	0.94783	0.561000	0.74099	GGA	HPDL	-	pirsf_4OHPhenylPyrv_dOase	ENSG00000186603		0.647	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPDL	HGNC	protein_coding	OTTHUMT00000020527.1	43	0.00	0	G	NM_032756		45793452	45793452	+1	no_errors	ENST00000334815	ensembl	human	known	69_37n	missense	14	39.13	9	SNP	0.995	T
HS3ST2	9956	genome.wustl.edu	37	16	22926832	22926832	+	Silent	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr16:22926832G>A	ENST00000261374.3	+	2	1487	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	351					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TTTATAGACCGTATAATATCA	0.463																																						dbGAP											0													113.0	128.0	123.0					16																	22926832		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.1053G>A	16.37:g.22926832G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LZ1	Silent	SNP	pfam_Sulfotransferase_dom	p.P351	ENST00000261374.3	37	c.1053	CCDS10606.1	16																																																																																			HS3ST2	-	NULL	ENSG00000122254		0.463	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST2	HGNC	protein_coding	OTTHUMT00000211598.1	355	0.00	0	G	NM_006043		22926832	22926832	+1	no_errors	ENST00000261374	ensembl	human	known	69_37n	silent	491	18.98	115	SNP	0.995	A
ICOSLG	23308	genome.wustl.edu	37	21	45655412	45655413	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr21:45655412_45655413insG	ENST00000407780.3	-	4	566_567	c.439_440insC	c.(439-441)cacfs	p.H147fs	ICOSLG_ENST00000344330.4_Frame_Shift_Ins_p.H147fs|ICOSLG_ENST00000400377.3_Frame_Shift_Ins_p.H30fs|ICOSLG_ENST00000400379.3_Frame_Shift_Ins_p.H147fs	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	147	Ig-like C2-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGAGGGGCTGTGGGGGGCGCTG	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.440dupC	21.37:g.45655418_45655418dupG	ENSP00000384432:p.His147fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUZ1|Q9HD18|Q9NRQ1	Frame_Shift_Ins	INS	pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.H147fs	ENST00000407780.3	37	c.440_439	CCDS42952.1	21																																																																																			ICOSLG	-	pfscan_Ig-like	ENSG00000160223		0.579	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICOSLG	HGNC	protein_coding	OTTHUMT00000195838.1	14	0.00	0	-	NM_015259		45655412	45655413	-1	no_errors	ENST00000344330	ensembl	human	known	69_37n	frame_shift_ins	7	22.22	2	INS	0.000:0.000	G
IDS	3423	genome.wustl.edu	37	X	148571918	148571918	+	Silent	SNP	G	G	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chrX:148571918G>T	ENST00000340855.6	-	7	1142	c.933C>A	c.(931-933)gtC>gtA	p.V311V	IDS_ENST00000541269.1_Silent_p.V100V|IDS_ENST00000370441.4_Silent_p.V311V|IDS_ENST00000422081.2_Silent_p.V100V|IDS_ENST00000537071.1_5'Flank|IDS_ENST00000490775.1_5'UTR	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	311					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGAGGCGGCCGACCTGTGTAT	0.433																																						dbGAP											0													86.0	78.0	81.0					X																	148571918		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.933C>A	X.37:g.148571918G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWT4|Q14604|Q9BRM3	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.V311	ENST00000340855.6	37	c.933	CCDS14685.1	X																																																																																			IDS	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000010404		0.433	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	104	0.00	0	G			148571918	148571918	-1	no_errors	ENST00000340855	ensembl	human	known	69_37n	silent	73	17.98	16	SNP	0.255	T
IFI16	3428	genome.wustl.edu	37	1	158984681	158984681	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr1:158984681G>T	ENST00000295809.7	+	2	466	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	IFI16_ENST00000448393.2_Missense_Mutation_p.D71Y|IFI16_ENST00000368131.4_Missense_Mutation_p.D71Y|IFI16_ENST00000340979.6_Missense_Mutation_p.D71Y|IFI16_ENST00000359709.3_Missense_Mutation_p.D71Y|IFI16_ENST00000368132.3_Missense_Mutation_p.D71Y|IFI16_ENST00000430894.2_Missense_Mutation_p.D75Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	71	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.|Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AATTTTCGAAGATATACCAAC	0.393																																						dbGAP											0													71.0	76.0	74.0					1																	158984681		2203	4300	6503	-	-	-	SO:0001583	missense	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.211G>T	1.37:g.158984681G>T	ENSP00000295809:p.Asp71Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.D71Y	ENST00000295809.7	37	c.211		1	.	.	.	.	.	.	.	.	.	.	.	8.932	0.963652	0.18583	.	.	ENSG00000163565	ENST00000359709;ENST00000426592;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	3.27	0.354	0.16063	Pyrin (2);DEATH-like (1);	.	.	.	.	T	0.26448	0.0646	L	0.38175	1.15	0.09310	N	1	D;P;P	0.56287	0.975;0.763;0.956	P;B;P	0.57009	0.811;0.347;0.722	T	0.06391	-1.0829	9	0.87932	D	0	.	5.5538	0.17105	0.3769:0.0:0.6231:0.0	.	75;71;71	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	Y	71;71;71;71;71;71;71;75	ENSP00000352740:D71Y;ENSP00000406406:D71Y;ENSP00000407052:D71Y;ENSP00000295809:D71Y;ENSP00000342741:D71Y;ENSP00000357113:D71Y;ENSP00000357114:D71Y;ENSP00000394935:D75Y	ENSP00000295809:D71Y	D	+	1	0	IFI16	157251305	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.146000	0.16180	0.076000	0.16826	-1.030000	0.02411	GAT	IFI16	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN	ENSG00000163565		0.393	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	189	0.00	0	G	NM_005531		158984681	158984681	+1	no_errors	ENST00000295809	ensembl	human	known	69_37n	missense	632	12.95	94	SNP	0.000	T
IFT140	9742	genome.wustl.edu	37	16	1633329	1633329	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr16:1633329G>A	ENST00000426508.2	-	12	1781	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	473					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACTCCGTATCGCGGCTCCAGA	0.567																																						dbGAP											0													87.0	70.0	76.0					16																	1633329		2199	4300	6499	-	-	-	SO:0001583	missense	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1418C>T	16.37:g.1633329G>A	ENSP00000406012:p.Ala473Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A473V	ENST00000426508.2	37	c.1418	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	G	5.952	0.359713	0.11239	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.69685	-0.42	5.48	-2.97	0.05530	.	1.408220	0.04710	N	0.417384	T	0.46483	0.1395	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18429	-1.0337	10	0.25106	T	0.35	.	6.8317	0.23913	0.4417:0.0:0.4466:0.1116	.	473;198	Q96RY7;B4DR58	IF140_HUMAN;.	V	473	ENSP00000406012:A473V	ENSP00000380562:A473V	A	-	2	0	IFT140	1573330	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.229000	0.09098	-0.918000	0.03808	-0.797000	0.03246	GCG	IFT140	-	NULL	ENSG00000187535		0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	64	0.00	0	G	NM_014714		1633329	1633329	-1	no_errors	ENST00000426508	ensembl	human	known	69_37n	missense	77	11.49	10	SNP	0.000	A
IGKV1D-12	28903	genome.wustl.edu	37	2	90198988	90198988	+	RNA	SNP	G	G	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr2:90198988G>T	ENST00000390276.2	+	0	330									immunoglobulin kappa variable 1D-12																		GCGAGTCAGGGTATTAGCAGC	0.522																																						dbGAP											0													45.0	59.0	56.0					2																	90198988		1370	3988	5358	-	-	-			0			X17263		2p11.2	2014-05-06			ENSG00000240834	ENSG00000278857		"""Immunoglobulins / IGK locus"""	5746	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188272		2.37:g.90198988G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G50V	ENST00000390276.2	37	c.149		2																																																																																			IGKV1D-12	-	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000240834		0.522	IGKV1D-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1D-12	HGNC	IG_V_gene	OTTHUMT00000323139.2	347	0.29	1	G	NG_000833		90198988	90198988	+1	no_stop_codon	ENST00000390276	ensembl	human	known	69_37n	missense	191	18.03	42	SNP	0.001	T
INHBC	3626	genome.wustl.edu	37	12	57843320	57843320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr12:57843320C>T	ENST00000309668.2	+	2	701	c.574C>T	c.(574-576)Cag>Tag	p.Q192*		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	192					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TGCCTGCAGCCAGGGGCACCT	0.607																																						dbGAP											0													53.0	55.0	54.0					12																	57843320		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.574C>T	12.37:g.57843320C>T	ENSP00000308716:p.Gln192*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Y2	Nonsense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC	p.Q192*	ENST00000309668.2	37	c.574	CCDS8938.1	12	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937882	0.52972	.	.	ENSG00000175189	ENST00000550133;ENST00000309668	.	.	.	4.09	4.09	0.47781	.	0.277785	0.34700	N	0.003744	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-5.8523	9.8848	0.41255	0.0:0.9028:0.0:0.0972	.	.	.	.	X	192	.	ENSP00000308716:Q192X	Q	+	1	0	INHBC	56129587	0.000000	0.05858	0.983000	0.44433	0.515000	0.34225	0.494000	0.22467	2.591000	0.87537	0.650000	0.86243	CAG	INHBC	-	pfam_TGF-b_N	ENSG00000175189		0.607	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBC	HGNC	protein_coding	OTTHUMT00000406770.1	130	0.00	0	C	NM_005538		57843320	57843320	+1	no_errors	ENST00000309668	ensembl	human	known	69_37n	nonsense	119	18.49	27	SNP	1.000	T
KDM7A	80853	genome.wustl.edu	37	7	139796372	139796372	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr7:139796372T>G	ENST00000397560.2	-	17	2454	c.2357A>C	c.(2356-2358)gAt>gCt	p.D786A	Y_RNA_ENST00000515919.1_RNA|JHDM1D_ENST00000006967.5_Missense_Mutation_p.D786A	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		786					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CACTGGTTTATCATAGCGATA	0.408																																						dbGAP											0													128.0	115.0	119.0					7																	139796372		1931	4156	6087	-	-	-	SO:0001583	missense	0																														ENST00000397560.2:c.2357A>C	7.37:g.139796372T>G	ENSP00000380692:p.Asp786Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.D786A	ENST00000397560.2	37	c.2357	CCDS43658.1	7	.	.	.	.	.	.	.	.	.	.	T	9.905	1.207836	0.22205	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.14391	2.7;2.51	5.33	2.96	0.34315	.	0.683671	0.15432	N	0.262645	T	0.09905	0.0243	N	0.22421	0.69	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.25984	-1.0116	10	0.54805	T	0.06	-4.5849	9.3597	0.38188	0.0:0.1449:0.0:0.8551	.	786	Q6ZMT4	KDM7_HUMAN	A	786	ENSP00000380692:D786A;ENSP00000006967:D786A	ENSP00000006967:D786A	D	-	2	0	JHDM1D	139442841	0.989000	0.36119	0.010000	0.14722	0.632000	0.37999	2.106000	0.41835	0.478000	0.27488	0.460000	0.39030	GAT	JHDM1D	-	NULL	ENSG00000006459		0.408	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JHDM1D	HGNC	protein_coding	OTTHUMT00000348460.1	99	0.00	0	T			139796372	139796372	-1	no_errors	ENST00000397560	ensembl	human	known	69_37n	missense	161	15.26	29	SNP	0.244	G
KLF8	11279	genome.wustl.edu	37	X	56291989	56291989	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chrX:56291989G>T	ENST00000468660.1	+	3	746	c.458G>T	c.(457-459)aGc>aTc	p.S153I	KLF8_ENST00000374928.3_Missense_Mutation_p.S153I	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						AGCACTGGTAGCCAGCAGATC	0.522																																						dbGAP											0													115.0	91.0	99.0					X																	56291989		2203	4300	6503	-	-	-	SO:0001583	missense	0			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.458G>T	X.37:g.56291989G>T	ENSP00000417303:p.Ser153Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S153I	ENST00000468660.1	37	c.458	CCDS14373.1	X	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694242	0.48202	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T;T	0.32515	1.45;1.45	4.35	4.35	0.52113	.	0.222664	0.39407	N	0.001364	T	0.16854	0.0405	N	0.08118	0	0.24861	N	0.992347	B;B;B	0.32693	0.278;0.014;0.38	B;B;B	0.28011	0.022;0.009;0.085	T	0.23440	-1.0188	10	0.87932	D	0	.	13.9917	0.64372	0.0:0.0:1.0:0.0	.	153;153;153	E7EQQ8;B4DJN3;O95600	.;.;KLF8_HUMAN	I	153	ENSP00000364063:S153I;ENSP00000417303:S153I	ENSP00000431911:S153I	S	+	2	0	KLF8	56308714	1.000000	0.71417	0.858000	0.33744	0.827000	0.46813	5.403000	0.66338	2.088000	0.63022	0.600000	0.82982	AGC	KLF8	-	NULL	ENSG00000102349		0.522	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF8	HGNC	protein_coding	OTTHUMT00000056887.2	147	0.00	0	G	NM_007250		56291989	56291989	+1	no_errors	ENST00000468660	ensembl	human	known	69_37n	missense	97	21.77	27	SNP	1.000	T
MAP4K1	11184	genome.wustl.edu	37	19	39088168	39088168	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr19:39088168C>T	ENST00000591517.1	-	23	1764	c.1736G>A	c.(1735-1737)gGa>gAa	p.G579E	MAP4K1_ENST00000423454.2_Missense_Mutation_p.E221K|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G575E|MAP4K1_ENST00000396857.2_Missense_Mutation_p.G579E|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	579	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GATGGGGTTTCCTGCTCTGGT	0.557																																						dbGAP											0													80.0	83.0	82.0					19																	39088168		2003	4153	6156	-	-	-	SO:0001583	missense	0			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1736G>A	19.37:g.39088168C>T	ENSP00000465039:p.Gly579Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G579E	ENST00000591517.1	37	c.1736	CCDS59385.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.85|12.85	2.062775|2.062775	0.36373|0.36373	.|.	.|.	ENSG00000104814|ENSG00000104814	ENST00000423454|ENST00000396857;ENST00000221409	T|T	0.10960|0.71579	2.82|-0.58	5.24|5.24	4.19|4.19	0.49359|0.49359	.|Citron-like (3);	.|0.346525	.|0.30538	.|N	.|0.009415	T|T	0.65852|0.65852	0.2731|0.2731	L|L	0.38531|0.38531	1.155|1.155	0.09310|0.09310	N|N	1|1	B|P;D	0.23442|0.53312	0.085|0.949;0.959	B|P;P	0.16722|0.53102	0.016|0.596;0.718	T|T	0.56908|0.56908	-0.7901|-0.7901	9|10	0.87932|0.06757	D|T	0|0.87	.|.	12.1179|12.1179	0.53875|0.53875	0.0:0.6674:0.3326:0.0|0.0:0.6674:0.3326:0.0	.|.	221|579;579	B4E087|Q92918-2;Q92918	.|.;M4K1_HUMAN	K|E	221|579	ENSP00000396383:E221K|ENSP00000380066:G579E	ENSP00000396383:E221K|ENSP00000221409:G579E	E|G	-|-	1|2	0|0	MAP4K1|MAP4K1	43780008|43780008	0.963000|0.963000	0.33076|0.33076	0.426000|0.426000	0.26672|0.26672	0.866000|0.866000	0.49608|0.49608	1.701000|1.701000	0.37825|0.37825	1.419000|1.419000	0.47118|0.47118	0.549000|0.549000	0.68633|0.68633	GAA|GGA	MAP4K1	-	pfam_Citron,smart_Citron	ENSG00000104814		0.557	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	HGNC	protein_coding	OTTHUMT00000453390.1	101	0.00	0	C	NM_001042600		39088168	39088168	-1	no_errors	ENST00000591517	ensembl	human	known	69_37n	missense	66	28.72	27	SNP	0.162	T
MRPS11	64963	genome.wustl.edu	37	15	89011148	89011148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr15:89011148delG	ENST00000325844.4	+	2	340	c.75delG	c.(73-75)gtgfs	p.V25fs	MRPS11_ENST00000557974.1_3'UTR|MRPL46_ENST00000312475.4_5'Flank|MRPS11_ENST00000353598.6_Frame_Shift_Del_p.V25fs	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	25					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCAGGGTCGTGGCCAGAACGC	0.647																																						dbGAP											0													25.0	26.0	26.0					15																	89011148		2201	4299	6500	-	-	-	SO:0001589	frameshift_variant	0			AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"""Mitochondrial ribosomal proteins / small subunits"""	14050	protein-coding gene	gene with protein product	"""cervical cancer proto-oncogene 2"""	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.75delG	15.37:g.89011148delG	ENSP00000317376:p.Val25fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD52|Q969D7|Q96GI3|Q9BYC3	Frame_Shift_Del	DEL	pfam_Ribosomal_S11	p.A26fs	ENST00000325844.4	37	c.75	CCDS10342.1	15																																																																																			MRPS11	-	NULL	ENSG00000181991		0.647	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS11	HGNC	protein_coding	OTTHUMT00000309067.2	9	0.00	0	G	NM_022839		89011148	89011148	+1	no_errors	ENST00000325844	ensembl	human	known	69_37n	frame_shift_del	7	46.15	6	DEL	0.001	-
NAV3	89795	genome.wustl.edu	37	12	78570996	78570996	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr12:78570996G>A	ENST00000397909.2	+	27	5373	c.5200G>A	c.(5200-5202)Gag>Aag	p.E1734K	NAV3_ENST00000536525.2_Missense_Mutation_p.E1734K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1557K|NAV3_ENST00000228327.6_Missense_Mutation_p.E1734K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1734						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGACATTGAAGAGCTTACTGA	0.468										HNSCC(70;0.22)																												dbGAP											0													147.0	137.0	140.0					12																	78570996		1901	4121	6022	-	-	-	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5200G>A	12.37:g.78570996G>A	ENSP00000381007:p.Glu1734Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E1734K	ENST00000397909.2	37	c.5200		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.904226|4.904226	0.92035|0.92035	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.93659|.	-3.26;-3.26;-3.26;-3.26;-3.26|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.40469|.	U|.	0.001087|.	T|T	0.78065|0.78065	0.4225|0.4225	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.993;0.996;0.999;0.998|.	D;D;D;D|.	0.80764|.	0.926;0.987;0.993;0.994|.	T|T	0.75522|0.75522	-0.3288|-0.3288	10|5	0.72032|.	D|.	0.01|.	-23.8522|-23.8522	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1734;1557;1734;1734|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	K|K	1734;1734;1734;1557;348;356|628	ENSP00000446132:E1734K;ENSP00000381007:E1734K;ENSP00000228327:E1734K;ENSP00000266692:E1557K;ENSP00000448303:E356K|.	ENSP00000228327:E1734K|.	E|R	+|+	1|2	0|0	NAV3|NAV3	77095127|77095127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.869000|9.869000	0.99810|0.99810	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAG|AGA	NAV3	-	NULL	ENSG00000067798		0.468	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	196	0.00	0	G	NM_001024383		78570996	78570996	+1	no_errors	ENST00000397909	ensembl	human	known	69_37n	missense	121	39.80	80	SNP	1.000	A
NCKAP5	344148	genome.wustl.edu	37	2	133541246	133541246	+	Silent	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr2:133541246G>A	ENST00000409261.1	-	14	3511	c.3138C>T	c.(3136-3138)ccC>ccT	p.P1046P	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.P1046P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1046										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGAGGTTTTGGGGACACCTC	0.552																																						dbGAP											0													75.0	76.0	75.0					2																	133541246		1886	4130	6016	-	-	-	SO:0001819	synonymous_variant	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3138C>T	2.37:g.133541246G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	NULL	p.P1046	ENST00000409261.1	37	c.3138	CCDS46418.1	2																																																																																			NCKAP5	-	NULL	ENSG00000176771		0.552	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	73	0.00	0	G	NM_207481		133541246	133541246	-1	no_errors	ENST00000317721	ensembl	human	known	69_37n	silent	102	22.73	30	SNP	0.029	A
NIPAL1	152519	genome.wustl.edu	37	4	48027169	48027169	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr4:48027169T>A	ENST00000295461.5	+	2	197	c.131T>A	c.(130-132)gTg>gAg	p.V44E	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	44						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GCTTCTCCTGTGCTCTACACG	0.453																																						dbGAP											0													140.0	129.0	133.0					4																	48027169		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.131T>A	4.37:g.48027169T>A	ENSP00000295461:p.Val44Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTB0|Q68DA9	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.V44E	ENST00000295461.5	37	c.131	CCDS3479.1	4	.	.	.	.	.	.	.	.	.	.	T	12.15	1.850592	0.32699	.	.	ENSG00000163293	ENST00000295461;ENST00000511123	D;T	0.90844	-2.74;-1.29	4.5	-1.64	0.08318	.	1.189500	0.06152	N	0.674265	T	0.78830	0.4345	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.61574	-0.7035	10	0.25106	T	0.35	.	0.2247	0.00172	0.272:0.2217:0.1454:0.3608	.	44	Q6NVV3	NIPA3_HUMAN	E	44;9	ENSP00000295461:V44E;ENSP00000422276:V9E	ENSP00000295461:V44E	V	+	2	0	NIPAL1	47721926	0.000000	0.05858	0.513000	0.27749	0.745000	0.42441	0.171000	0.16685	-0.257000	0.09459	0.482000	0.46254	GTG	NIPAL1	-	NULL	ENSG00000163293		0.453	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	124	0.00	0	T	NM_207330		48027169	48027169	+1	no_errors	ENST00000295461	ensembl	human	known	69_37n	missense	161	19.50	39	SNP	0.000	A
NMD3	51068	genome.wustl.edu	37	3	160952568	160952568	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr3:160952568G>T	ENST00000460469.1	+	5	866	c.411G>T	c.(409-411)caG>caT	p.Q137H	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Missense_Mutation_p.Q137H|NMD3_ENST00000472947.1_Missense_Mutation_p.Q137H			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	137					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ATGTTGTTCAGTCCCAAATGT	0.383																																						dbGAP											0													216.0	207.0	210.0					3																	160952568		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.411G>T	3.37:g.160952568G>T	ENSP00000419004:p.Gln137His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	pfam_NMD3	p.Q137H	ENST00000460469.1	37	c.411	CCDS3194.1	3	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807030	0.31961	.	.	ENSG00000169251	ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469;ENST00000540137	T;T;T;T;T;T;T	0.43688	0.95;0.95;0.95;0.94;0.95;0.95;0.95	4.83	3.9	0.45041	.	0.055071	0.85682	D	0.000000	T	0.24812	0.0602	N	0.17838	0.53	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.15484	0.013;0.007	T	0.06789	-1.0807	10	0.23891	T	0.37	-18.606	8.5697	0.33561	0.0855:0.1547:0.7598:0.0	.	137;137	C9JA08;Q96D46	.;NMD3_HUMAN	H	137;137;137;137;137;137;137;17	ENSP00000418980:Q137H;ENSP00000419030:Q137H;ENSP00000307525:Q137H;ENSP00000417559:Q137H;ENSP00000418908:Q137H;ENSP00000419647:Q137H;ENSP00000419004:Q137H	ENSP00000307525:Q137H	Q	+	3	2	NMD3	162435262	0.991000	0.36638	1.000000	0.80357	0.961000	0.63080	1.998000	0.40796	2.376000	0.81061	0.591000	0.81541	CAG	NMD3	-	pfam_NMD3	ENSG00000169251		0.383	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1	202	0.00	0	G	NM_015938		160952568	160952568	+1	no_errors	ENST00000351193	ensembl	human	known	69_37n	missense	269	28.46	107	SNP	1.000	T
OR5I1	10798	genome.wustl.edu	37	11	55703345	55703345	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr11:55703345G>A	ENST00000301532.3	-	1	531	c.532C>T	c.(532-534)Cat>Tat	p.H178Y		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	178					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAGAAAAAATGATTAATAACA	0.423																																						dbGAP											0													66.0	72.0	70.0					11																	55703345		2201	4291	6492	-	-	-	SO:0001583	missense	0			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.532C>T	11.37:g.55703345G>A	ENSP00000301532:p.His178Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEU4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H178Y	ENST00000301532.3	37	c.532	CCDS7949.1	11	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547925	0.65311	.	.	ENSG00000167825	ENST00000301532	T	0.00183	8.6	5.15	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000181	T	0.00468	0.0015	M	0.83118	2.625	0.30381	N	0.781918	P	0.50066	0.931	P	0.54060	0.741	T	0.16100	-1.0414	10	0.72032	D	0.01	.	13.8347	0.63402	0.0:0.1545:0.8455:0.0	.	178	Q13606	OR5I1_HUMAN	Y	178	ENSP00000301532:H178Y	ENSP00000301532:H178Y	H	-	1	0	OR5I1	55459921	0.668000	0.27493	0.984000	0.44739	0.991000	0.79684	1.179000	0.31993	1.273000	0.44346	0.637000	0.83480	CAT	OR5I1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000167825		0.423	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1	110	0.00	0	G	NM_006637		55703345	55703345	-1	no_errors	ENST00000301532	ensembl	human	known	69_37n	missense	144	21.20	39	SNP	0.981	A
PARP12	64761	genome.wustl.edu	37	7	139724642	139724642	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr7:139724642G>T	ENST00000263549.3	-	12	2697	c.1824C>A	c.(1822-1824)agC>agA	p.S608R		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	608	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TGTCGGATTTGCTGTAGTGGT	0.622																																						dbGAP											0													78.0	60.0	66.0					7																	139724642		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1824C>A	7.37:g.139724642G>T	ENSP00000263549:p.Ser608Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S608R	ENST00000263549.3	37	c.1824	CCDS5857.1	7	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599747	0.66332	.	.	ENSG00000059378	ENST00000263549	T	0.17854	2.25	5.3	2.43	0.29744	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.458028	0.24949	N	0.034315	T	0.43831	0.1265	M	0.87456	2.885	0.26045	N	0.981551	D	0.89917	1.0	D	0.85130	0.997	T	0.31724	-0.9933	10	0.66056	D	0.02	.	10.8935	0.47008	0.3201:0.0:0.6799:0.0	.	608	Q9H0J9	PAR12_HUMAN	R	608	ENSP00000263549:S608R	ENSP00000263549:S608R	S	-	3	2	PARP12	139371111	0.523000	0.26274	0.955000	0.39395	0.960000	0.62799	1.048000	0.30379	0.604000	0.29930	0.655000	0.94253	AGC	PARP12	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000059378		0.622	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP12	HGNC	protein_coding	OTTHUMT00000348413.1	45	0.00	0	G	NM_022750		139724642	139724642	-1	no_errors	ENST00000263549	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	0.607	T
PDE1B	5153	genome.wustl.edu	37	12	54967460	54967460	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr12:54967460A>G	ENST00000243052.3	+	10	1467	c.1031A>G	c.(1030-1032)aAg>aGg	p.K344R	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.K324R|PDE1B_ENST00000538346.1_Missense_Mutation_p.K303R	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	344	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CAGCAAGTGAAGACCATGAAG	0.562																																						dbGAP											0													138.0	125.0	130.0					12																	54967460		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1031A>G	12.37:g.54967460A>G	ENSP00000243052:p.Lys344Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.K344R	ENST00000243052.3	37	c.1031	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	A	28.8	4.948128	0.92593	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.82255	-1.59;-1.59;-1.59	5.24	5.24	0.73138	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.89015	0.6595	M	0.82630	2.6	0.80722	D	1	P;P	0.50272	0.847;0.933	P;P	0.54706	0.495;0.759	D	0.90322	0.4345	10	0.62326	D	0.03	.	13.4044	0.60903	1.0:0.0:0.0:0.0	.	324;344	Q01064-2;Q01064	.;PDE1B_HUMAN	R	344;303;324	ENSP00000243052:K344R;ENSP00000442559:K303R;ENSP00000448519:K324R	ENSP00000243052:K344R	K	+	2	0	PDE1B	53253727	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.388000	0.79795	2.117000	0.64856	0.533000	0.62120	AAG	PDE1B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000123360		0.562	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	123	0.00	0	A			54967460	54967460	+1	no_errors	ENST00000243052	ensembl	human	known	69_37n	missense	56	28.21	22	SNP	1.000	G
PIGR	5284	genome.wustl.edu	37	1	207107989	207107989	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr1:207107989T>C	ENST00000356495.4	-	6	1664	c.1481A>G	c.(1480-1482)tAc>tGc	p.Y494C	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	494	Ig-like V-type 5.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGCACCAGTATTTCTCGTA	0.562																																						dbGAP											0													80.0	79.0	80.0					1																	207107989		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1481A>G	1.37:g.207107989T>C	ENSP00000348888:p.Tyr494Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Y494C	ENST00000356495.4	37	c.1481	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297335	0.60086	.	.	ENSG00000162896	ENST00000356495	T	0.68765	-0.35	5.77	1.92	0.25849	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.195182	0.36854	N	0.002378	T	0.81884	0.4917	M	0.88181	2.935	0.39908	D	0.973999	D	0.89917	1.0	D	0.85130	0.997	T	0.82934	-0.0211	10	0.54805	T	0.06	-16.662	10.9693	0.47431	0.4566:0.0:0.0:0.5434	.	494	P01833	PIGR_HUMAN	C	494	ENSP00000348888:Y494C	ENSP00000348888:Y494C	Y	-	2	0	PIGR	205174612	0.999000	0.42202	1.000000	0.80357	0.815000	0.46073	0.908000	0.28545	0.427000	0.26145	0.459000	0.35465	TAC	PIGR	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000162896		0.562	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	98	0.00	0	T	NM_002644		207107989	207107989	-1	no_errors	ENST00000356495	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	1.000	C
POLI	11201	genome.wustl.edu	37	18	51797757	51797757	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr18:51797757C>T	ENST00000579534.1	+	2	286	c.143C>T	c.(142-144)cCa>cTa	p.P48L	POLI_ENST00000579434.1_Intron|POLI_ENST00000217800.5_5'UTR|POLI_ENST00000406285.3_Missense_Mutation_p.P48L	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	48					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TTGCCCACACCAAATGCTTCA	0.378								DNA polymerases (catalytic subunits)																														dbGAP											0													131.0	120.0	123.0					18																	51797757		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.143C>T	18.37:g.51797757C>T	ENSP00000462664:p.Pro48Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N	p.P48L	ENST00000579534.1	37	c.143	CCDS11954.2	18	.	.	.	.	.	.	.	.	.	.	C	7.063	0.566814	0.13560	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.44881	0.91	5.14	-2.39	0.06602	.	1.074000	0.07171	N	0.852430	T	0.19446	0.0467	N	0.08118	0	0.19945	N	0.999941	B;B	0.15141	0.012;0.005	B;B	0.09377	0.004;0.004	T	0.20638	-1.0269	10	0.28530	T	0.3	-0.8763	5.707	0.17913	0.3985:0.2418:0.3598:0.0	.	47;48	B7Z780;Q9UNA4	.;POLI_HUMAN	L	48	ENSP00000385196:P48L	ENSP00000217800:P48L	P	+	2	0	POLI	50051755	0.052000	0.20516	0.001000	0.08648	0.003000	0.03518	-0.003000	0.12901	-0.190000	0.10465	-1.024000	0.02432	CCA	POLI	-	NULL	ENSG00000101751		0.378	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLI	HGNC	protein_coding	OTTHUMT00000256002.3	24	0.00	0	C	NM_007195		51797757	51797757	+1	no_errors	ENST00000579534	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	0.007	T
RBM23	55147	genome.wustl.edu	37	14	23374660	23374660	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr14:23374660T>C	ENST00000359890.3	-	7	653	c.458A>G	c.(457-459)gAg>gGg	p.E153G	RBM23_ENST00000346528.5_Missense_Mutation_p.E119G|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.E137G	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	153					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		ATCAACTGGCTCCCTGAAGAG	0.483																																						dbGAP											0													90.0	89.0	89.0					14																	23374660		1954	4136	6090	-	-	-	SO:0001583	missense	0			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.458A>G	14.37:g.23374660T>C	ENSP00000352956:p.Glu153Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF	p.E153G	ENST00000359890.3	37	c.458	CCDS41921.1	14	.	.	.	.	.	.	.	.	.	.	T	11.00	1.511094	0.27036	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528;ENST00000554256	T;T;T	0.80393	-1.37;1.35;3.63	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);	0.172327	0.38326	N	0.001721	T	0.69584	0.3127	N	0.20685	0.6	0.80722	D	1	B;B;B;B	0.17465	0.016;0.022;0.001;0.002	B;B;B;B	0.19946	0.027;0.023;0.008;0.004	T	0.66806	-0.5830	10	0.48119	T	0.1	-15.0003	14.0696	0.64852	0.0:0.0:0.0:1.0	.	153;119;137;153	Q86U06-3;Q86U06-4;Q86U06-2;Q86U06	.;.;.;RBM23_HUMAN	G	153;130;137;119;135	ENSP00000352956:E153G;ENSP00000382806:E137G;ENSP00000339220:E119G	ENSP00000305783:E153G	E	-	2	0	RBM23	22444500	1.000000	0.71417	0.981000	0.43875	0.239000	0.25481	4.118000	0.57884	2.216000	0.71823	0.533000	0.62120	GAG	RBM23	-	tigrfam_CC1_SF	ENSG00000100461		0.483	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM23	HGNC	protein_coding	OTTHUMT00000413545.3	129	0.00	0	T			23374660	23374660	-1	no_errors	ENST00000359890	ensembl	human	known	69_37n	missense	52	43.48	40	SNP	1.000	C
RIF1	55183	genome.wustl.edu	37	2	152273161	152273161	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr2:152273161A>G	ENST00000243326.5	+	4	850	c.367A>G	c.(367-369)Ata>Gta	p.I123V	RIF1_ENST00000430328.2_Missense_Mutation_p.I123V|RIF1_ENST00000428287.2_Missense_Mutation_p.I123V|RIF1_ENST00000453091.2_Missense_Mutation_p.I123V|RIF1_ENST00000444746.2_Missense_Mutation_p.I123V|RIF1_ENST00000433166.2_Missense_Mutation_p.I123V			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACTTTGGGTGATATCTAAGCA	0.343																																						dbGAP											0													227.0	242.0	237.0					2																	152273161		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.367A>G	2.37:g.152273161A>G	ENSP00000243326:p.Ile123Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.I123V	ENST00000243326.5	37	c.367	CCDS2194.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.48|13.48	2.249547|2.249547	0.39797|0.39797	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328	.|T;T;T;T;T;T	.|0.67345	.|-0.26;-0.26;-0.26;0.58;-0.26;-0.26	5.65|5.65	1.52|1.52	0.23074|0.23074	.|Armadillo-type fold (1);	.|0.355854	.|0.35436	.|N	.|0.003201	T|T	0.52025|0.52025	0.1709|0.1709	L|L	0.55103|0.55103	1.725|1.725	0.43841|0.43841	D|D	0.996427|0.996427	.|P;B	.|0.39940	.|0.696;0.27	.|B;B	.|0.32980	.|0.156;0.108	T|T	0.44421|0.44421	-0.9329|-0.9329	5|10	.|0.39692	.|T	.|0.17	-5.6308|-5.6308	6.652|6.652	0.22967|0.22967	0.5942:0.139:0.0:0.2668|0.5942:0.139:0.0:0.2668	.|.	.|123;123	.|Q5UIP0;Q5UIP0-2	.|RIF1_HUMAN;.	G|V	114|123	.|ENSP00000390181:I123V;ENSP00000414615:I123V;ENSP00000415691:I123V;ENSP00000396865:I123V;ENSP00000243326:I123V;ENSP00000416123:I123V	.|ENSP00000243326:I123V	D|I	+|+	2|1	0|0	RIF1|RIF1	151981407|151981407	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.983000|0.983000	0.72400|0.72400	3.663000|3.663000	0.54518|0.54518	0.440000|0.440000	0.26502|0.26502	0.528000|0.528000	0.53228|0.53228	GAT|ATA	RIF1	-	superfamily_ARM-type_fold	ENSG00000080345		0.343	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	298	0.00	0	A			152273161	152273161	+1	no_errors	ENST00000243326	ensembl	human	known	69_37n	missense	365	11.19	46	SNP	1.000	G
RTTN	25914	genome.wustl.edu	37	18	67759382	67759382	+	Silent	SNP	A	A	G			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr18:67759382A>G	ENST00000255674.6	-	30	4393	c.4107T>C	c.(4105-4107)gcT>gcC	p.A1369A	RTTN_ENST00000437017.1_Silent_p.A1369A|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1369					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAATCAACCAAGCCAATCCTT	0.428																																						dbGAP											0													81.0	74.0	76.0					18																	67759382		1889	4109	5998	-	-	-	SO:0001819	synonymous_variant	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4107T>C	18.37:g.67759382A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.A1369	ENST00000255674.6	37	c.4107	CCDS42443.1	18																																																																																			RTTN	-	NULL	ENSG00000176225		0.428	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	96	0.00	0	A	NM_173630		67759382	67759382	-1	no_errors	ENST00000255674	ensembl	human	known	69_37n	silent	126	26.74	46	SNP	0.221	G
SEZ6L2	26470	genome.wustl.edu	37	16	29899946	29899946	+	Silent	SNP	C	C	G	rs374912046		TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr16:29899946C>G	ENST00000308713.5	-	6	1481	c.954G>C	c.(952-954)tcG>tcC	p.S318S	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Silent_p.S274S|SEZ6L2_ENST00000350527.3_Silent_p.S248S|SEZ6L2_ENST00000346932.5_Silent_p.S204S	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	318	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTGGTAGCCCGAATCACAGT	0.647																																						dbGAP											0													85.0	74.0	77.0					16																	29899946		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.954G>C	16.37:g.29899946C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S318	ENST00000308713.5	37	c.954	CCDS10659.1	16																																																																																			SEZ6L2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000174938		0.647	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	29	0.00	0	C	NM_012410		29899946	29899946	-1	no_errors	ENST00000308713	ensembl	human	known	69_37n	silent	30	25.00	10	SNP	0.685	G
SI	6476	genome.wustl.edu	37	3	164785127	164785127	+	Splice_Site	SNP	C	C	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr3:164785127C>T	ENST00000264382.3	-	6	698		c.e6+1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATACACTTACAAAGTTTTAC	0.303										HNSCC(35;0.089)																												dbGAP											0													55.0	55.0	55.0					3																	164785127		2202	4298	6500	-	-	-	SO:0001630	splice_region_variant	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.635+1G>A	3.37:g.164785127C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	-	e5+1	ENST00000264382.3	37	c.635+1	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	11.62	1.694305	0.30052	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2087	0.93746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166267821	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	6.369000	0.73109	2.616000	0.88540	0.573000	0.79308	.	SI	-	-	ENSG00000090402		0.303	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	74	0.00	0	C	NM_001041	Intron	164785127	164785127	-1	no_errors	ENST00000264382	ensembl	human	known	69_37n	splice_site	100	14.53	17	SNP	1.000	T
SYT11	23208	genome.wustl.edu	37	1	155838473	155838473	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr1:155838473G>A	ENST00000368324.4	+	2	1005	c.752G>A	c.(751-753)cGc>cAc	p.R251H	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	251	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGCTTTGACCGCTTCTCTCGG	0.572																																						dbGAP											0													91.0	71.0	78.0					1																	155838473		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.752G>A	1.37:g.155838473G>A	ENSP00000357307:p.Arg251His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.R251H	ENST00000368324.4	37	c.752	CCDS1122.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.562735	0.96527	.	.	ENSG00000132718	ENST00000368324	T	0.09255	3.0	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.22243	-1.0222	10	0.87932	D	0	.	20.0189	0.97489	0.0:0.0:1.0:0.0	.	251	Q9BT88	SYT11_HUMAN	H	251	ENSP00000357307:R251H	ENSP00000357307:R251H	R	+	2	0	SYT11	154105097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.828000	0.97474	0.655000	0.94253	CGC	SYT11	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000132718		0.572	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	68	0.00	0	G	NM_152280		155838473	155838473	+1	no_errors	ENST00000368324	ensembl	human	known	69_37n	missense	92	51.83	99	SNP	1.000	A
NPFF	8620	genome.wustl.edu	37	12	53898183	53898184	+	IGR	INS	-	-	C			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr12:53898183_53898184insC	ENST00000267017.3	-	0	592				TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.SP121fs|TARBP2_ENST00000266987.2_Frame_Shift_Ins_p.SP142fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.SP121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.SP51fs	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TCCTTCAGGAGCCCCCCCATGG	0.564																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898190_53898190dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXL4	Frame_Shift_Ins	INS	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.M145fs	ENST00000267017.3	37	c.425_426	CCDS8862.1	12																																																																																			TARBP2	-	NULL	ENSG00000139546		0.564	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARBP2	HGNC	protein_coding	OTTHUMT00000406301.1	72	0.00	0	-	NM_003717		53898183	53898184	+1	no_errors	ENST00000266987	ensembl	human	known	69_37n	frame_shift_ins	32	11.11	4	INS	0.999:0.994	C
TIGD3	220359	genome.wustl.edu	37	11	65124020	65124021	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	GG	GG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr11:65124020_65124021delGG	ENST00000309880.5	+	2	948_949	c.741_742delGG	c.(739-744)ttggcafs	p.LA247fs		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	247	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TAGAGTGGTTGGCACAGTTTGA	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.741_742delGG	11.37:g.65124020_65124021delGG	ENSP00000308354:p.Leu247fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.L247fs	ENST00000309880.5	37	c.741_742	CCDS8101.1	11																																																																																			TIGD3	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000173825		0.653	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD3	HGNC	protein_coding	OTTHUMT00000387310.1	29	0.00	0	GG	NM_145719		65124020	65124021	+1	no_errors	ENST00000309880	ensembl	human	known	69_37n	frame_shift_del	21	38.24	13	DEL	1.000:1.000	-
TM4SF1	4071	genome.wustl.edu	37	3	149095219	149095219	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr3:149095219G>C	ENST00000305366.3	-	1	433	c.116C>G	c.(115-117)tCc>tGc	p.S39C	TM4SF1-AS1_ENST00000496491.1_RNA|TM4SF1-AS1_ENST00000484046.1_RNA|TM4SF1_ENST00000472441.1_5'Flank	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	39						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GTGGTTTTCGGAGGCATACTT	0.498																																						dbGAP											0													88.0	79.0	82.0					3																	149095219		2203	4300	6503	-	-	-	SO:0001583	missense	0			M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"""transmembrane 4 superfamily member 1"""	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.116C>G	3.37:g.149095219G>C	ENSP00000304277:p.Ser39Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IB51	Missense_Mutation	SNP	pfam_L6_membrane	p.S39C	ENST00000305366.3	37	c.116	CCDS3143.1	3	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521423	0.44866	.	.	ENSG00000169908	ENST00000305366;ENST00000383054	T	0.34072	1.38	5.5	3.62	0.41486	.	0.356413	0.27155	N	0.020661	T	0.52741	0.1753	M	0.75264	2.295	0.22066	N	0.999386	D	0.61697	0.99	P	0.57548	0.823	T	0.46541	-0.9184	10	0.62326	D	0.03	-14.414	13.4183	0.60982	0.0:0.1189:0.7584:0.1227	.	39	P30408	T4S1_HUMAN	C	39	ENSP00000304277:S39C	ENSP00000304277:S39C	S	-	2	0	TM4SF1	150577909	0.001000	0.12720	0.006000	0.13384	0.285000	0.27093	0.847000	0.27696	2.585000	0.87301	0.655000	0.94253	TCC	TM4SF1	-	pfam_L6_membrane	ENSG00000169908		0.498	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF1	HGNC	protein_coding	OTTHUMT00000356368.1	60	0.00	0	G			149095219	149095219	-1	no_errors	ENST00000305366	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	0.001	C
TP53	7157	genome.wustl.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	GRCh37	CM971506	TP53	M	rs121913344						120.0	106.0	110.0					17																	7577022		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R306*	ENST00000269305.4	37	c.916	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA	TP53	-	NULL	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	75	0.00	0	G	NM_000546		7577022	7577022	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	16	84.11	90	SNP	1.000	A
TRIP11	9321	genome.wustl.edu	37	14	92472173	92472173	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr14:92472173A>G	ENST00000267622.4	-	11	2520	c.2147T>C	c.(2146-2148)aTg>aCg	p.M716T		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	716					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCCTTTTTCCATTTTTAGAGT	0.383			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	dbGAP		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													149.0	154.0	152.0					14																	92472173		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2147T>C	14.37:g.92472173A>G	ENSP00000267622:p.Met716Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.M716T	ENST00000267622.4	37	c.2147	CCDS9899.1	14	.	.	.	.	.	.	.	.	.	.	A	0.520	-0.862537	0.02610	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.03831	3.79	6.16	1.62	0.23740	.	0.741250	0.13964	N	0.350640	T	0.03434	0.0099	L	0.29908	0.895	0.23346	N	0.997868	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.48747	-0.9008	10	0.13853	T	0.58	.	6.5297	0.22320	0.5421:0.1662:0.2917:0.0	.	452;716	F5H1Z0;Q15643	.;TRIPB_HUMAN	T	716;452	ENSP00000267622:M716T	ENSP00000267622:M716T	M	-	2	0	TRIP11	91541926	0.626000	0.27120	0.001000	0.08648	0.090000	0.18270	2.882000	0.48546	0.047000	0.15862	0.528000	0.53228	ATG	TRIP11	-	NULL	ENSG00000100815		0.383	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	253	0.00	0	A			92472173	92472173	-1	no_errors	ENST00000267622	ensembl	human	known	69_37n	missense	269	19.46	65	SNP	0.610	G
WDFY3	23001	genome.wustl.edu	37	4	85648059	85648059	+	Silent	SNP	C	C	T			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr4:85648059C>T	ENST00000295888.4	-	45	7634	c.7227G>A	c.(7225-7227)gaG>gaA	p.E2409E	WDFY3_ENST00000322366.6_Intron	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2409	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TACTTGGGATCTCAGACTGAA	0.299																																						dbGAP											0													101.0	104.0	103.0					4																	85648059		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7227G>A	4.37:g.85648059C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2409	ENST00000295888.4	37	c.7227	CCDS3609.1	4																																																																																			WDFY3	-	superfamily_Cyclin-like	ENSG00000163625		0.299	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	114	0.00	0	C	NM_014991		85648059	85648059	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	silent	211	11.34	27	SNP	0.997	T
ZFYVE1	53349	genome.wustl.edu	37	14	73441506	73441507	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr14:73441506_73441507insA	ENST00000556143.1	-	10	2687_2688	c.1967_1968insT	c.(1966-1968)gaafs	p.E656fs	ZFYVE1_ENST00000553891.1_Frame_Shift_Ins_p.E656fs|ZFYVE1_ENST00000555072.1_Frame_Shift_Ins_p.E241fs|ZFYVE1_ENST00000554145.1_5'Flank|ZFYVE1_ENST00000318876.5_Frame_Shift_Ins_p.E642fs|ZFYVE1_ENST00000394207.2_Frame_Shift_Ins_p.E241fs	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	656					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CGTTCCTGGCTTCGTAGCAGTT	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1967_1968insT	14.37:g.73441506_73441507insA	ENSP00000450742:p.Glu656fs	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Frame_Shift_Ins	INS	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E656fs	ENST00000556143.1	37	c.1968_1967	CCDS9811.1	14																																																																																			ZFYVE1	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000165861		0.614	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	51	0.00	0	-	NM_021260		73441506	73441507	-1	no_errors	ENST00000553891	ensembl	human	known	69_37n	frame_shift_ins	26	10.34	3	INS	0.083:1.000	A
ZNF133	7692	genome.wustl.edu	37	20	18296782	18296783	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr20:18296782_18296783insA	ENST00000316358.4	+	4	1384_1385	c.1287_1288insA	c.(1288-1290)cggfs	p.R430fs	ZNF133_ENST00000377671.3_Frame_Shift_Ins_p.R429fs|ZNF133_ENST00000402618.2_Frame_Shift_Ins_p.R367fs|ZNF133_ENST00000538547.1_Frame_Shift_Ins_p.R335fs|ZNF133_ENST00000396026.3_Frame_Shift_Ins_p.R433fs|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000401790.1_Frame_Shift_Ins_p.R430fs|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000535822.1_Frame_Shift_Ins_p.R335fs	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	430					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)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TCTCTCACAGGCGGACACACAC	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	Exception_encountered	20.37:g.18296782_18296783insA	ENSP00000346090:p.Arg430fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Frame_Shift_Ins	INS	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.R432fs	ENST00000316358.4	37	c.1296_1297		20																																																																																			ZNF133	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125846		0.545	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	HGNC	protein_coding	OTTHUMT00000127616.1	137	0.00	0	-	NM_003434		18296782	18296783	+1	no_errors	ENST00000396026	ensembl	human	known	69_37n	frame_shift_ins	211	18.53	48	INS	1.000:0.999	A
ZNF254	9534	genome.wustl.edu	37	19	24289416	24289416	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr19:24289416A>G	ENST00000357002.4	+	3	339	c.224A>G	c.(223-225)aAg>aGg	p.K75R	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.K75R	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGGAATATGAAGCGACATGAG	0.423																																						dbGAP											0													129.0	137.0	134.0					19																	24289416		1511	2709	4220	-	-	-	SO:0001583	missense	0			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.224A>G	19.37:g.24289416A>G	ENSP00000349494:p.Lys75Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPC0|Q86XL7	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.K75R	ENST00000357002.4	37	c.224	CCDS32983.1	19	.	.	.	.	.	.	.	.	.	.	A	0.370	-0.934535	0.02340	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	T;T	0.06608	3.28;5.61	0.225	-0.451	0.12214	Krueppel-associated box (1);	.	.	.	.	T	0.04952	0.0133	L	0.39147	1.195	0.09310	N	1	B	0.29085	0.232	B	0.29598	0.104	T	0.41592	-0.9500	8	0.59425	D	0.04	.	.	.	.	.	75	O75437	ZN254_HUMAN	R	75	ENSP00000349494:K75R;ENSP00000341573:K75R	ENSP00000341573:K75R	K	+	2	0	ZNF254	24081256	0.004000	0.15560	0.011000	0.14972	0.011000	0.07611	-0.552000	0.06020	-2.395000	0.00582	-2.470000	0.00202	AAG	ZNF254	-	pfscan_Krueppel-associated_box	ENSG00000213096		0.423	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	168	0.00	0	A	NM_004876		24289416	24289416	+1	no_errors	ENST00000357002	ensembl	human	known	69_37n	missense	274	23.89	86	SNP	0.014	G
ZNF419	79744	genome.wustl.edu	37	19	58004585	58004585	+	Silent	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr19:58004585G>A	ENST00000221735.7	+	5	846	c.660G>A	c.(658-660)caG>caA	p.Q220Q	AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000424930.2_Silent_p.Q221Q|ZNF419_ENST00000426954.2_Silent_p.Q208Q|ZNF419_ENST00000442920.2_Silent_p.Q207Q|ZNF419_ENST00000354197.4_Silent_p.Q208Q|ZNF419_ENST00000415379.2_Silent_p.Q174Q|ZNF419_ENST00000347466.6_Silent_p.Q188Q			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TACTTGTTCAGCACCAGAGAC	0.398																																						dbGAP											0													70.0	72.0	72.0					19																	58004585		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.660G>A	19.37:g.58004585G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q221	ENST00000221735.7	37	c.663	CCDS54326.1	19																																																																																			ZNF419	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105136		0.398	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	120	0.83	1	G	NM_024691		58004585	58004585	+1	no_errors	ENST00000424930	ensembl	human	known	69_37n	silent	90	35.71	50	SNP	0.087	A
ZNF502	91392	genome.wustl.edu	37	3	44762851	44762851	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr3:44762851G>C	ENST00000296091.4	+	4	798	c.542G>C	c.(541-543)aGa>aCa	p.R181T	ZNF502_ENST00000436624.2_Missense_Mutation_p.R181T|ZNF502_ENST00000449836.1_Missense_Mutation_p.R181T	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	181					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)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACTGGAGAGAGACCCTACACA	0.413																																						dbGAP											0													139.0	150.0	147.0					3																	44762851		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.542G>C	3.37:g.44762851G>C	ENSP00000296091:p.Arg181Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R181T	ENST00000296091.4	37	c.542	CCDS2719.1	3	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185386	0.57909	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783	T;T;T	0.17854	2.25;2.25;2.25	4.79	2.83	0.33086	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37376	0.1001	M	0.83118	2.625	0.25158	N	0.990373	D	0.69078	0.997	D	0.67382	0.951	T	0.16748	-1.0392	9	0.72032	D	0.01	-15.907	4.1256	0.10126	0.2657:0.1759:0.5585:0.0	.	181	Q8TBZ5	ZN502_HUMAN	T	181	ENSP00000397390:R181T;ENSP00000296091:R181T;ENSP00000406469:R181T	ENSP00000296091:R181T	R	+	2	0	ZNF502	44737855	0.026000	0.19158	0.042000	0.18584	0.980000	0.70556	0.155000	0.16362	1.360000	0.45960	0.655000	0.94253	AGA	ZNF502	-	pfscan_Znf_C2H2	ENSG00000196653		0.413	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF502	HGNC	protein_coding	OTTHUMT00000256744.4	218	0.00	0	G	NM_033210		44762851	44762851	+1	no_errors	ENST00000296091	ensembl	human	known	69_37n	missense	286	14.63	49	SNP	0.747	C
ZNF550	162972	genome.wustl.edu	37	19	58058369	58058369	+	Silent	SNP	G	G	A			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr19:58058369G>A	ENST00000457177.1	-	4	1423	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Silent_p.L374L|ZNF550_ENST00000325134.5_Silent_p.L383L			Q7Z398	ZN550_HUMAN	zinc finger protein 550	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTGCTGCAGAAGGTGTGAC	0.498																																						dbGAP											0													145.0	110.0	122.0					19																	58058369		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.1243C>T	19.37:g.58058369G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVF6|O43337|Q7Z6D7|Q8NE45	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L415	ENST00000457177.1	37	c.1243		19																																																																																			AC003682.1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000251369		0.498	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	ZNF550	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000257992.2	56	0.00	0	G	NM_153231		58058369	58058369	-1	no_errors	ENST00000344222	ensembl	human	known	69_37n	silent	40	14.89	7	SNP	0.023	A
ZNF658	26149	genome.wustl.edu	37	9	40774730	40774730	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JL-01A-11W-A071-09	TCGA-AO-A0JL-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	56a22648-be92-402c-a225-bcaa44a7e612	efe1ab84-6be7-4543-b692-f12470b5ddea	g.chr9:40774730G>C	ENST00000602553.1	-	5	839	c.545C>G	c.(544-546)gCt>gGt	p.A182G	ZNF658_ENST00000441795.1_Missense_Mutation_p.A180G|ZNF658_ENST00000377626.3_Missense_Mutation_p.A182G			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCAGCATGAGCTTTCTCATG	0.318																																						dbGAP											0													8.0	9.0	9.0					9																	40774730		1963	3880	5843	-	-	-	SO:0001583	missense	0			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.545C>G	9.37:g.40774730G>C	ENSP00000473484:p.Ala182Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	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.A182G	ENST00000602553.1	37	c.545	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	g	7.610	0.674504	0.14841	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.06371	3.51;3.31	1.81	0.89	0.19218	.	.	.	.	.	T	0.04227	0.0117	N	0.19112	0.55	0.09310	N	1	B;B	0.27732	0.187;0.043	B;B	0.26770	0.073;0.025	T	0.42103	-0.9471	9	0.44086	T	0.13	.	6.3506	0.21373	0.1735:0.0:0.8265:0.0	.	182;182	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	G	180;182	ENSP00000408462:A180G;ENSP00000366853:A182G	ENSP00000366853:A182G	A	-	2	0	ZNF658	40764730	0.000000	0.05858	0.001000	0.08648	0.111000	0.19643	-0.910000	0.04054	0.353000	0.24079	0.391000	0.25812	GCT	ZNF658	-	NULL	ENSG00000196409		0.318	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	73	0.00	0	G	NM_033160		40774730	40774730	-1	no_errors	ENST00000377626	ensembl	human	known	69_37n	missense	49	37.97	30	SNP	0.000	C
