#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
ADAMTSL2	9719	genome.wustl.edu	37	9	136405814	136405814	+	Silent	SNP	A	A	G	rs202157773	byFrequency	TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr9:136405814A>G	ENST00000354484.4	+	6	1064	c.507A>G	c.(505-507)acA>acG	p.T169T	ADAMTSL2_ENST00000393061.3_Silent_p.T278T|ADAMTSL2_ENST00000393060.1_Silent_p.T169T	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	169					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCGACGGCACATCCTGCAAGC	0.577													A|||	3	0.000599042	0.0	0.0	5008	,	,		19399	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													70.0	57.0	61.0					9																	136405814		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.507A>G	9.37:g.136405814A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1B0D5|O60345	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.T278	ENST00000354484.4	37	c.834	CCDS6976.1	9																																																																																			ADAMTSL2	-	NULL	ENSG00000197859		0.577	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL2	HGNC	protein_coding	OTTHUMT00000254619.1	20	0.00	0	A	NM_014694		136405814	136405814	+1	no_errors	ENST00000393061	ensembl	human	known	69_37n	silent	11	52.17	12	SNP	0.017	G
ANO10	55129	genome.wustl.edu	37	3	43596874	43596874	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr3:43596874C>A	ENST00000292246.3	-	10	1734	c.1564G>T	c.(1564-1566)Gct>Tct	p.A522S	ANO10_ENST00000350459.4_Missense_Mutation_p.A332S|ANO10_ENST00000396091.3_Missense_Mutation_p.A456S|ANO10_ENST00000451430.2_Missense_Mutation_p.A411S|ANO10_ENST00000414522.2_Missense_Mutation_p.A522S	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	522					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TTTAACACAGCAAAGGCAGCT	0.398																																						dbGAP											0													105.0	103.0	103.0					3																	43596874		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1564G>T	3.37:g.43596874C>A	ENSP00000292246:p.Ala522Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	pfam_Anoctamin	p.A522S	ENST00000292246.3	37	c.1564	CCDS2710.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.513436|4.513436	0.85389|0.85389	.|.	.|.	ENSG00000160746|ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000451430|ENST00000448045	T;T;T;T;T|.	0.70282|.	-0.47;-0.47;-0.47;-0.47;-0.47|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.054268|.	0.64402|.	D|.	0.000001|.	T|T	0.82199|0.82199	0.4985|0.4985	M|M	0.83312|0.83312	2.635|2.635	0.45025|0.45025	D|D	0.998046|0.998046	D;D;D;D;D|.	0.89917|.	1.0;0.999;0.979;0.998;0.989|.	D;D;P;D;D|.	0.80764|.	0.99;0.994;0.835;0.983;0.965|.	D|D	0.83552|0.83552	0.0102|0.0102	10|5	0.46703|.	T|.	0.11|.	.|.	18.8615|18.8615	0.92273|0.92273	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	411;522;332;456;522|.	Q9NW15-4;C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15|.	.;.;.;.;ANO10_HUMAN|.	S|F	522;332;456;522;411|10	ENSP00000292246:A522S;ENSP00000327767:A332S;ENSP00000379398:A456S;ENSP00000396990:A522S;ENSP00000394119:A411S|.	ENSP00000292246:A522S|.	A|L	-|-	1|3	0|2	ANO10|ANO10	43571878|43571878	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.988000|0.988000	0.76386|0.76386	6.091000|6.091000	0.71406|0.71406	2.456000|2.456000	0.83038|0.83038	0.655000|0.655000	0.94253|0.94253	GCT|TTG	ANO10	-	pfam_Anoctamin	ENSG00000160746		0.398	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO10	HGNC	protein_coding	OTTHUMT00000256649.2	45	0.00	0	C	NM_018075		43596874	43596874	-1	no_errors	ENST00000292246	ensembl	human	known	69_37n	missense	22	45.00	18	SNP	1.000	A
ANO3	63982	genome.wustl.edu	37	11	26620415	26620415	+	Missense_Mutation	SNP	G	G	A	rs199929076		TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr11:26620415G>A	ENST00000256737.3	+	16	2393	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	ANO3_ENST00000531568.1_Missense_Mutation_p.R368H|ANO3_ENST00000537978.1_Missense_Mutation_p.R498H|ANO3_ENST00000525139.1_Missense_Mutation_p.R498H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	514					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GAAACACTTCGTCCCCAGTTT	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		16761	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													67.0	60.0	62.0					11																	26620415		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1541G>A	11.37:g.26620415G>A	ENSP00000256737:p.Arg514His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.R514H	ENST00000256737.3	37	c.1541	CCDS31447.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	28.4	4.920671	0.92249	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.97	5.97	0.96955	.	0.120935	0.64402	D	0.000013	D	0.83344	0.5234	M	0.92317	3.295	0.80722	D	1	P;P	0.48350	0.909;0.779	P;B	0.47162	0.54;0.392	D	0.86997	0.2114	10	0.87932	D	0	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	416;514	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	H	498;498;514;416;368	ENSP00000440737:R498H;ENSP00000432576:R498H;ENSP00000256737:R514H;ENSP00000432394:R368H	ENSP00000256737:R514H	R	+	2	0	ANO3	26576991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.867000	0.87062	2.834000	0.97654	0.650000	0.86243	CGT	ANO3	-	pfam_Anoctamin	ENSG00000134343		0.393	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	25	0.00	0	G	NM_031418		26620415	26620415	+1	no_errors	ENST00000256737	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21234906	21234906	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr2:21234906A>G	ENST00000233242.1	-	26	4961	c.4834T>C	c.(4834-4836)Ttc>Ctc	p.F1612L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1612					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGGCTGAAGAACCTCAAT	0.418																																						dbGAP											0													93.0	79.0	84.0					2																	21234906		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4834T>C	2.37:g.21234906A>G	ENSP00000233242:p.Phe1612Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.F1612L	ENST00000233242.1	37	c.4834	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579411	0.46006	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00724	5.78	5.88	3.5	0.40072	.	0.312805	0.28006	N	0.016976	T	0.01029	0.0034	L	0.50333	1.59	0.53688	D	0.999975	B	0.18461	0.028	B	0.17433	0.018	T	0.60214	-0.7307	10	0.44086	T	0.13	.	8.4267	0.32733	0.7944:0.1371:0.0685:0.0	.	1612	P04114	APOB_HUMAN	L	1612	ENSP00000233242:F1612L	ENSP00000233242:F1612L	F	-	1	0	APOB	21088411	1.000000	0.71417	0.866000	0.34008	0.878000	0.50629	5.848000	0.69458	0.482000	0.27582	0.528000	0.53228	TTC	APOB	-	NULL	ENSG00000084674		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	17	0.00	0	A			21234906	21234906	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	0.247	G
APOL6	80830	genome.wustl.edu	37	22	36055202	36055202	+	Silent	SNP	G	G	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr22:36055202G>A	ENST00000409652.4	+	3	867	c.591G>A	c.(589-591)ttG>ttA	p.L197L		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	197					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						ACCCACGCTTGGCCAATGCTA	0.512																																						dbGAP											0													62.0	67.0	66.0					22																	36055202		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.591G>A	22.37:g.36055202G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Silent	SNP	pfam_ApoL	p.L197	ENST00000409652.4	37	c.591	CCDS13919.1	22																																																																																			APOL6	-	pfam_ApoL	ENSG00000221963		0.512	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL6	HGNC	protein_coding	OTTHUMT00000319081.2	31	0.00	0	G	NM_030641		36055202	36055202	+1	no_errors	ENST00000409652	ensembl	human	known	69_37n	silent	23	20.69	6	SNP	0.000	A
BNIPL	149428	genome.wustl.edu	37	1	151018589	151018589	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr1:151018589C>A	ENST00000368931.3	+	9	1141	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	BNIPL_ENST00000295294.7_Missense_Mutation_p.L247M|BNIPL_ENST00000491386.1_3'UTR|C1orf56_ENST00000368926.5_5'Flank	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	329	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGGGGGAGCTGGCCCAACT	0.453																																						dbGAP											0													62.0	64.0	63.0					1																	151018589		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.985C>A	1.37:g.151018589C>A	ENSP00000357927:p.Leu329Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.L329M	ENST00000368931.3	37	c.985	CCDS978.2	1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882582	0.72294	.	.	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294	T;T;T	0.57273	0.41;0.41;0.41	5.75	1.86	0.25419	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.84433	2.695	0.51767	D	0.999937	D	0.89917	1.0	D	0.91635	0.999	T	0.65780	-0.6085	10	0.87932	D	0	.	8.6753	0.34176	0.0:0.6909:0.0:0.3091	.	329	Q7Z465	BNIPL_HUMAN	M	329;327;247	ENSP00000357927:L329M;ENSP00000355333:L327M;ENSP00000295294:L247M	ENSP00000295294:L247M	L	+	1	2	BNIPL	149285213	0.958000	0.32768	0.858000	0.33744	0.947000	0.59692	2.000000	0.40816	0.098000	0.17522	0.561000	0.74099	CTG	BNIPL	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000163141		0.453	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIPL	HGNC	protein_coding	OTTHUMT00000085092.1	60	0.00	0	C	NM_138279		151018589	151018589	+1	no_errors	ENST00000368931	ensembl	human	known	69_37n	missense	64	18.99	15	SNP	0.998	A
C7	730	genome.wustl.edu	37	5	40959618	40959618	+	Silent	SNP	A	A	G			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr5:40959618A>G	ENST00000313164.9	+	12	1916	c.1557A>G	c.(1555-1557)agA>agG	p.R519R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	519	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				AGAAAACAAGAAGCCGTGAAT	0.512																																						dbGAP											0													58.0	65.0	62.0					5																	40959618		1912	4114	6026	-	-	-	SO:0001819	synonymous_variant	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1557A>G	5.37:g.40959618A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P3T5|Q92489	Silent	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.R519	ENST00000313164.9	37	c.1557	CCDS47201.1	5																																																																																			C7	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000112936		0.512	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	52	0.00	0	A			40959618	40959618	+1	no_errors	ENST00000313164	ensembl	human	known	69_37n	silent	26	54.39	31	SNP	0.229	G
CASC5	57082	genome.wustl.edu	37	15	40917759	40917761	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr15:40917759_40917761delAAG	ENST00000346991.5	+	11	5765_5767	c.5375_5377delAAG	c.(5374-5379)caagaa>caa	p.E1795del	CASC5_ENST00000399668.2_In_Frame_Del_p.E1769del			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1795					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E1793Q(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACGTGGGTACAAGAAGAAGAAGA	0.355																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)																																								-	-	-	SO:0001651	inframe_deletion	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5375_5377delAAG	15.37:g.40917768_40917770delAAG	ENSP00000335463:p.Glu1795del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	In_Frame_Del	DEL	NULL	p.E1795in_frame_del	ENST00000346991.5	37	c.5375_5377	CCDS42023.1	15																																																																																			CASC5	-	NULL	ENSG00000137812		0.355	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	33	0.00	0	AAG	NM_144508		40917759	40917761	+1	no_errors	ENST00000346991	ensembl	human	known	69_37n	in_frame_del	16	11.11	2	DEL	0.980:0.985:0.981	-
CDKL5	6792	genome.wustl.edu	37	X	18638042	18638042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chrX:18638042G>T	ENST00000379989.3	+	17	2617	c.2332G>T	c.(2332-2334)Gga>Tga	p.G778*	CDKL5_ENST00000379996.3_Nonsense_Mutation_p.G778*|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	778					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGAGAAGCAAGGATTTTTCAG	0.284																																						dbGAP											0													35.0	35.0	35.0					X																	18638042		2202	4294	6496	-	-	-	SO:0001587	stop_gained	0			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2332G>T	X.37:g.18638042G>T	ENSP00000369325:p.Gly778*	Somatic		WXS	Illumina GAIIx	Phase_IV	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G778*	ENST00000379989.3	37	c.2332	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.215838	0.97385	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.9482	17.3904	0.87428	0.0:0.0:1.0:0.0	.	.	.	.	X	778	.	ENSP00000369325:G778X	G	+	1	0	CDKL5	18547963	1.000000	0.71417	0.999000	0.59377	0.130000	0.20726	6.003000	0.70701	2.407000	0.81776	0.600000	0.82982	GGA	CDKL5	-	NULL	ENSG00000008086		0.284	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	32	0.00	0	G	NM_003159		18638042	18638042	+1	no_errors	ENST00000379989	ensembl	human	known	69_37n	nonsense	18	28.00	7	SNP	1.000	T
CNNM3	26505	genome.wustl.edu	37	2	97498311	97498311	+	Silent	SNP	C	C	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr2:97498311C>T	ENST00000305510.3	+	8	2110	c.2082C>T	c.(2080-2082)ggC>ggT	p.G694G	CNNM3_ENST00000377060.3_Silent_p.G646G|ANKRD23_ENST00000476975.1_5'UTR	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	694					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GCAGGCCCGGCGTCCCGGTGG	0.577																																						dbGAP											0													115.0	130.0	124.0					2																	97498311		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.2082C>T	2.37:g.97498311C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Silent	SNP	pfam_DUF21,superfamily_RNA_pol_subH/Rpb5_C,superfamily_cNMP-bd-like	p.G694	ENST00000305510.3	37	c.2082	CCDS2025.1	2																																																																																			CNNM3	-	NULL	ENSG00000168763		0.577	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM3	HGNC	protein_coding	OTTHUMT00000252952.2	50	0.00	0	C	NM_017623		97498311	97498311	+1	no_errors	ENST00000305510	ensembl	human	known	69_37n	silent	31	26.19	11	SNP	0.001	T
COL22A1	169044	genome.wustl.edu	37	8	139856380	139856380	+	Missense_Mutation	SNP	C	C	T	rs551462454		TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr8:139856380C>T	ENST00000303045.6	-	4	1126	c.680G>A	c.(679-681)cGt>cAt	p.R227H	COL22A1_ENST00000435777.1_Missense_Mutation_p.R227H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	227					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCTTCTACACGAACGCTAGG	0.448										HNSCC(7;0.00092)			C|||	1	0.000199681	0.0	0.0	5008	,	,		23662	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													295.0	260.0	272.0					8																	139856380		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.680G>A	8.37:g.139856380C>T	ENSP00000303153:p.Arg227His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.R227H	ENST00000303045.6	37	c.680	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536470	0.27475	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.89485	-2.52;-2.43	5.01	4.12	0.48240	.	0.427784	0.19677	U	0.108604	T	0.80808	0.4694	N	0.04508	-0.205	0.09310	N	1	D	0.65815	0.995	P	0.51016	0.656	T	0.72218	-0.4357	9	.	.	.	.	11.2027	0.48751	0.0:0.8151:0.1849:0.0	.	227	Q8NFW1	COMA1_HUMAN	H	227	ENSP00000303153:R227H;ENSP00000387655:R227H	.	R	-	2	0	COL22A1	139925562	0.892000	0.30473	0.031000	0.17742	0.711000	0.40976	1.473000	0.35387	1.313000	0.45069	0.650000	0.86243	CGT	COL22A1	-	NULL	ENSG00000169436		0.448	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	69	0.00	0	C	XM_291257		139856380	139856380	-1	no_errors	ENST00000303045	ensembl	human	known	69_37n	missense	102	17.07	21	SNP	0.042	T
CTTNBP2	83992	genome.wustl.edu	37	7	117432213	117432213	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr7:117432213C>A	ENST00000160373.3	-	4	1128	c.1037G>T	c.(1036-1038)tGc>tTc	p.C346F	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	346					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGCACTGGTGCACACGCTCCC	0.507																																						dbGAP											0													128.0	120.0	123.0					7																	117432213		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1037G>T	7.37:g.117432213C>A	ENSP00000160373:p.Cys346Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.C346F	ENST00000160373.3	37	c.1037	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.394397	0.01175	.	.	ENSG00000077063	ENST00000160373	T	0.65916	-0.18	5.58	5.58	0.84498	.	0.305697	0.32852	N	0.005569	T	0.66147	0.2760	M	0.75447	2.3	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.56908	-0.7901	10	0.44086	T	0.13	-0.6931	19.9345	0.97131	0.0:1.0:0.0:0.0	.	346	Q8WZ74	CTTB2_HUMAN	F	346	ENSP00000160373:C346F	ENSP00000160373:C346F	C	-	2	0	CTTNBP2	117219449	0.047000	0.20315	0.009000	0.14445	0.018000	0.09664	2.035000	0.41155	2.789000	0.95967	0.650000	0.86243	TGC	CTTNBP2	-	NULL	ENSG00000077063		0.507	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	35	0.00	0	C	NM_033427		117432213	117432213	-1	no_errors	ENST00000160373	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	0.026	A
DDB1	1642	genome.wustl.edu	37	11	61094351	61094351	+	Silent	SNP	C	C	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr11:61094351C>T	ENST00000301764.7	-	5	961	c.564G>A	c.(562-564)cgG>cgA	p.R188R	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	188	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TTTTTACGTGCCGCCCCTGAG	0.512								Nucleotide excision repair (NER)																														dbGAP											0													108.0	116.0	113.0					11																	61094351		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.564G>A	11.37:g.61094351C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R188	ENST00000301764.7	37	c.564	CCDS31576.1	11																																																																																			DDB1	-	NULL	ENSG00000167986		0.512	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	27	0.00	0	C	NM_001923		61094351	61094351	-1	no_errors	ENST00000301764	ensembl	human	known	69_37n	silent	26	29.73	11	SNP	0.999	T
DERA	51071	genome.wustl.edu	37	12	16115830	16115830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr12:16115830G>T	ENST00000428559.2	+	5	669	c.457G>T	c.(457-459)Gaa>Taa	p.E153*	DERA_ENST00000532964.1_Nonsense_Mutation_p.E153*|DERA_ENST00000526530.1_Nonsense_Mutation_p.E65*	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	153					deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	deoxyribose-phosphate aldolase activity (GO:0004139)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				TGGAGCTACAGAAATCGACGT	0.458																																						dbGAP											0													97.0	95.0	96.0					12																	16115830		1977	4158	6135	-	-	-	SO:0001587	stop_gained	0			AF132960	CCDS44838.1, CCDS73451.1	12p12.3	2010-06-24	2010-06-24		ENSG00000023697	ENSG00000023697	4.1.2.4		24269	protein-coding gene	gene with protein product			"""2-deoxyribose-5-phosphate aldolase homolog (C. elegans)"""			12546782	Standard	XM_006719083		Approved	CGI-26, DEOC	uc001rde.3	Q9Y315	OTTHUMG00000165537	ENST00000428559.2:c.457G>T	12.37:g.16115830G>T	ENSP00000416583:p.Glu153*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HN9|Q6PHW2	Nonsense_Mutation	SNP	pfam_DeoC/AroFGH_arch,pirsf_DeoC,tigrfam_DeoC	p.E153*	ENST00000428559.2	37	c.457	CCDS44838.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.618842	0.99221	.	.	ENSG00000023697	ENST00000428559;ENST00000524480;ENST00000531803;ENST00000532964;ENST00000533447;ENST00000526530	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.7231	16.992	0.86356	0.0:0.0:1.0:0.0	.	.	.	.	X	153;65;174;153;65;65	.	ENSP00000416583:E153X	E	+	1	0	DERA	16007097	1.000000	0.71417	0.865000	0.33974	0.792000	0.44763	9.103000	0.94232	2.436000	0.82500	0.655000	0.94253	GAA	DERA	-	pfam_DeoC/AroFGH_arch,pirsf_DeoC,tigrfam_DeoC	ENSG00000023697		0.458	DERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERA	HGNC	protein_coding	OTTHUMT00000384731.1	56	0.00	0	G	NM_015954		16115830	16115830	+1	no_errors	ENST00000428559	ensembl	human	known	69_37n	nonsense	47	18.97	11	SNP	1.000	T
DSP	1832	genome.wustl.edu	37	6	7582932	7582932	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr6:7582932G>C	ENST00000379802.3	+	24	5778	c.5437G>C	c.(5437-5439)Gag>Cag	p.E1813Q	DSP_ENST00000418664.2_Missense_Mutation_p.E1214Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1813	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACAGGAAAGAGAGAGCCTTCT	0.428																																						dbGAP											0													113.0	120.0	118.0					6																	7582932		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5437G>C	6.37:g.7582932G>C	ENSP00000369129:p.Glu1813Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E1813Q	ENST00000379802.3	37	c.5437	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055921	0.55325	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.66460	-0.21;-0.21	5.21	5.21	0.72293	.	0.000000	0.56097	D	0.000024	T	0.63355	0.2504	L	0.40543	1.245	0.28430	N	0.917328	D;D	0.60575	0.988;0.982	P;P	0.55965	0.788;0.702	T	0.61525	-0.7045	10	0.51188	T	0.08	.	18.7791	0.91924	0.0:0.0:1.0:0.0	.	1261;1813	Q4LE79;P15924	.;DESP_HUMAN	Q	1813;1214	ENSP00000369129:E1813Q;ENSP00000396591:E1214Q	ENSP00000369129:E1813Q	E	+	1	0	DSP	7527931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.415000	0.81967	0.655000	0.94253	GAG	DSP	-	NULL	ENSG00000096696		0.428	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	41	0.00	0	G	NM_004415		7582932	7582932	+1	no_errors	ENST00000379802	ensembl	human	known	69_37n	missense	34	44.26	27	SNP	1.000	C
EN1	2019	genome.wustl.edu	37	2	119600587	119600587	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr2:119600587G>A	ENST00000295206.6	-	2	1616	c.1106C>T	c.(1105-1107)gCg>gTg	p.A369V	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	369					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GAGGTGCAGCGCCAGGCCGTT	0.627																																						dbGAP											0													75.0	66.0	69.0					2																	119600587		2203	4300	6503	-	-	-	SO:0001583	missense	0			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.1106C>T	2.37:g.119600587G>A	ENSP00000295206:p.Ala369Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG44	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4	p.A369V	ENST00000295206.6	37	c.1106	CCDS2123.1	2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611252	0.87258	.	.	ENSG00000163064	ENST00000295206	D	0.92199	-2.99	5.13	4.23	0.50019	Homeobox engrailed (1);Homeodomain-like (1);Homeobox engrailed, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96137	0.8741	M	0.84683	2.71	0.50632	D	0.999882	D	0.89917	1.0	D	0.77557	0.99	D	0.96569	0.9421	10	0.87932	D	0	-10.8552	15.0142	0.71570	0.0:0.1435:0.8565:0.0	.	369	Q05925	HME1_HUMAN	V	369	ENSP00000295206:A369V	ENSP00000295206:A369V	A	-	2	0	EN1	119317057	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.814000	0.99346	1.106000	0.41623	0.555000	0.69702	GCG	EN1	-	pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,prints_Homeodomain_engrailed	ENSG00000163064		0.627	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EN1	HGNC	protein_coding	OTTHUMT00000254191.3	34	0.00	0	G			119600587	119600587	-1	no_errors	ENST00000295206	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	1.000	A
FAM149A	25854	genome.wustl.edu	37	4	187077211	187077211	+	Silent	SNP	C	C	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr4:187077211C>T	ENST00000356371.5	+	7	1314	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	FAM149A_ENST00000503432.1_Silent_p.L147L|FAM149A_ENST00000502970.1_Silent_p.L147L|FAM149A_ENST00000514153.1_Silent_p.L147L|FAM149A_ENST00000227065.4_Silent_p.L147L|FAM149A_ENST00000389354.5_Silent_p.L147L|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	438										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GGCGCAAACTCGGACTTCCTC	0.448																																						dbGAP											0													118.0	109.0	112.0					4																	187077211		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1314C>T	4.37:g.187077211C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	pfam_DUF3719	p.L438	ENST00000356371.5	37	c.1314		4																																																																																			FAM149A	-	NULL	ENSG00000109794		0.448	FAM149A-201	KNOWN	basic	protein_coding	FAM149A	HGNC	protein_coding		56	0.00	0	C	NM_001006655		187077211	187077211	+1	no_errors	ENST00000356371	ensembl	human	known	69_37n	silent	52	16.13	10	SNP	0.035	T
FAM160A2	84067	genome.wustl.edu	37	11	6232928	6232928	+	Silent	SNP	G	G	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr11:6232928G>A	ENST00000449352.2	-	12	2990	c.2727C>T	c.(2725-2727)ggC>ggT	p.G909G	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000265978.4_Silent_p.G923G			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	909					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGGGGCCCCGCCCCGGGTGA	0.592																																						dbGAP											0													49.0	58.0	55.0					11																	6232928		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2727C>T	11.37:g.6232928G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	pfam_RetinoicA-induced_16-like	p.G923	ENST00000449352.2	37	c.2769	CCDS44530.1	11																																																																																			FAM160A2	-	NULL	ENSG00000051009		0.592	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	27	0.00	0	G	NM_032127		6232928	6232928	-1	no_errors	ENST00000265978	ensembl	human	known	69_37n	silent	18	30.77	8	SNP	0.007	A
FMN2	56776	genome.wustl.edu	37	1	240256746	240256746	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr1:240256746G>A	ENST00000319653.9	+	1	1567	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	446					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.R589Q(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATCAAGAGGCGGCCGGAACCC	0.687																																						dbGAP											1	Substitution - Missense(1)	pancreas(1)											43.0	50.0	48.0					1																	240256746		2196	4294	6490	-	-	-	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1337G>A	1.37:g.240256746G>A	ENSP00000318884:p.Arg446Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.R446Q	ENST00000319653.9	37	c.1337	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041746	0.35989	.	.	ENSG00000155816	ENST00000319653	D	0.84944	-1.92	4.51	2.5	0.30297	.	0.201924	0.32836	N	0.005581	T	0.73666	0.3616	L	0.34521	1.04	0.45046	D	0.998068	D	0.58970	0.984	B	0.39971	0.315	T	0.70447	-0.4869	10	0.59425	D	0.04	.	6.6872	0.23152	0.0819:0.0:0.5967:0.3215	.	446	Q9NZ56	FMN2_HUMAN	Q	446	ENSP00000318884:R446Q	ENSP00000318884:R446Q	R	+	2	0	FMN2	238323369	0.867000	0.29959	0.969000	0.41365	0.878000	0.50629	1.469000	0.35343	0.438000	0.26450	0.563000	0.77884	CGG	FMN2	-	NULL	ENSG00000155816		0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	21	0.00	0	G	XM_371352		240256746	240256746	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	0.617	A
GRIK2	2898	genome.wustl.edu	37	6	101847171	101847171	+	Silent	SNP	G	G	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr6:101847171G>A	ENST00000421544.1	+	1	508	c.18G>A	c.(16-18)ccG>ccA	p.P6P	GRIK2_ENST00000369138.1_Silent_p.P6P|GRIK2_ENST00000318991.6_Silent_p.P6P|GRIK2_ENST00000413795.1_Silent_p.P6P|GRIK2_ENST00000358361.3_Silent_p.P6P|GRIK2_ENST00000369137.3_Silent_p.P6P	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	6					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTATTTTCCCGATTCTAAGTA	0.478																																						dbGAP											0													151.0	136.0	141.0					6																	101847171		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.18G>A	6.37:g.101847171G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P6	ENST00000421544.1	37	c.18	CCDS5048.1	6																																																																																			GRIK2	-	NULL	ENSG00000164418		0.478	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	54	0.00	0	G			101847171	101847171	+1	no_errors	ENST00000421544	ensembl	human	known	69_37n	silent	56	13.64	9	SNP	0.999	A
FYN	2534	genome.wustl.edu	37	6	112015900	112015900	+	Silent	SNP	T	T	C			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr6:112015900T>C	ENST00000354650.3	-	11	1656	c.1050A>G	c.(1048-1050)ttA>ttG	p.L350L	FYN_ENST00000538466.1_Silent_p.L347L|FYN_ENST00000368682.3_Silent_p.L347L|FYN_ENST00000368667.2_Silent_p.L350L|FYN_ENST00000368678.4_Silent_p.L347L|FYN_ENST00000476769.2_5'Flank|FYN_ENST00000229470.5_Silent_p.L298L|FYN_ENST00000356013.2_Silent_p.L295L|FYN_ENST00000229471.4_Silent_p.L295L	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AGAAATCCAGTAAACTTCCTA	0.358																																						dbGAP											0													118.0	113.0	115.0					6																	112015900		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1050A>G	6.37:g.112015900T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.L350	ENST00000354650.3	37	c.1050	CCDS5094.1	6																																																																																			FYN	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000010810		0.358	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FYN	HGNC	protein_coding	OTTHUMT00000043655.1	43	0.00	0	T			112015900	112015900	-1	no_errors	ENST00000354650	ensembl	human	known	69_37n	silent	31	42.59	23	SNP	1.000	C
GRM1	2911	genome.wustl.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr6:146350671_146350672insT	ENST00000282753.1	+	1	253_254	c.18_19insT	c.(19-21)tttfs	p.F7fs	GRM1_ENST00000361719.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000392299.2_Frame_Shift_Ins_p.F7fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	7					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)		GGCTCCTTTTGTTTTTTTTCCC	0.644																																						dbGAP											0									,	13,4249		0,13,2118					,	5.4	0.9			109	6,8248		0,6,4121	no	frameshift,frameshift	GRM1	NM_001114329.1,NM_000838.3	,	0,19,6239	A1A1,A1R,RR		0.0727,0.305,0.1518	,	,		19,12497				-	-	-	SO:0001589	frameshift_variant	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.26dupT	6.37:g.146350679_146350679dupT	ENSP00000282753:p.Phe7fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Ins	INS	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.P10fs	ENST00000282753.1	37	c.18_19	CCDS5209.1	6																																																																																			GRM1	-	prints_GPCR_3_mtglu_rcpt_1	ENSG00000152822		0.644	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	40	0.00	0	-	NM_000838		146350671	146350672	+1	no_errors	ENST00000282753	ensembl	human	known	69_37n	frame_shift_ins	59	14.49	10	INS	0.050:0.003	T
IL12RB1	3594	genome.wustl.edu	37	19	18188415	18188415	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr19:18188415G>T	ENST00000600835.2	-	6	758	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	IL12RB1_ENST00000322153.7_Missense_Mutation_p.Q154K|IL12RB1_ENST00000593993.2_Missense_Mutation_p.Q154K			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	154	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						ATACGCAGCTGCCCGGCCAAC	0.577																																						dbGAP											0													61.0	51.0	55.0					19																	18188415		2203	4300	6503	-	-	-	SO:0001583	missense	0			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.460C>A	19.37:g.18188415G>T	ENSP00000470788:p.Gln154Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q154K	ENST00000600835.2	37	c.460	CCDS54232.1	19	.	.	.	.	.	.	.	.	.	.	G	5.533	0.283325	0.10458	.	.	ENSG00000096996	ENST00000430026;ENST00000322153	T;D	0.85702	-1.43;-2.02	3.9	-3.94	0.04130	Immunoglobulin-like fold (1);	1.092710	0.07120	N	0.843797	T	0.64638	0.2616	N	0.21583	0.68	0.09310	N	1	B;B;B	0.17268	0.002;0.021;0.001	B;B;B	0.14578	0.011;0.008;0.005	T	0.56335	-0.7996	10	0.05351	T	0.99	-1.373	0.5857	0.00719	0.2071:0.1566:0.3176:0.3186	.	154;154;154	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	K	154	ENSP00000403103:Q154K;ENSP00000314425:Q154K	ENSP00000314425:Q154K	Q	-	1	0	IL12RB1	18049415	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-0.962000	0.03841	-0.369000	0.08028	0.585000	0.79938	CAG	IL12RB1	-	superfamily_Fibronectin_type3	ENSG00000096996		0.577	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	HGNC	protein_coding	OTTHUMT00000466525.3	31	0.00	0	G			18188415	18188415	-1	no_errors	ENST00000430026	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	0.000	T
INMT	11185	genome.wustl.edu	37	7	30795418	30795418	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr7:30795418C>A	ENST00000013222.5	+	3	759	c.743C>A	c.(742-744)gCc>gAc	p.A248D	INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Missense_Mutation_p.A247D|INMT-FAM188B_ENST00000458257.1_Intron	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	248					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						ACCAATGCTGCCAACAATGGG	0.592																																						dbGAP											0													100.0	97.0	98.0					7																	30795418		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.743C>A	7.37:g.30795418C>A	ENSP00000013222:p.Ala248Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.A248D	ENST00000013222.5	37	c.743	CCDS5430.1	7	.	.	.	.	.	.	.	.	.	.	C	0.572	-0.840551	0.02692	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.02890	4.12;4.12	3.41	2.5	0.30297	.	2.023740	0.02632	N	0.104516	T	0.01189	0.0039	N	0.01242	-0.935	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43410	-0.9393	10	0.02654	T	1	-13.4358	4.5644	0.12175	0.2149:0.6668:0.0:0.1183	.	247;248	B8ZZ69;O95050	.;INMT_HUMAN	D	248;247	ENSP00000013222:A248D;ENSP00000386961:A247D	ENSP00000013222:A248D	A	+	2	0	INMT	30761943	0.004000	0.15560	0.029000	0.17559	0.008000	0.06430	1.268000	0.33062	0.939000	0.37446	0.561000	0.74099	GCC	INMT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	ENSG00000241644		0.592	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INMT	HGNC	protein_coding	OTTHUMT00000214993.3	26	0.00	0	C	NM_006774		30795418	30795418	+1	no_errors	ENST00000013222	ensembl	human	known	69_37n	missense	17	43.33	13	SNP	0.045	A
KIAA2026	158358	genome.wustl.edu	37	9	5988477	5988477	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr9:5988477C>A	ENST00000399933.3	-	2	661	c.662G>T	c.(661-663)gGa>gTa	p.G221V	KIAA2026_ENST00000381461.2_Missense_Mutation_p.G221V	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	221										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACATGCAGTTCCCTTCTCATC	0.433																																						dbGAP											0													130.0	123.0	125.0					9																	5988477		1936	4128	6064	-	-	-	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.662G>T	9.37:g.5988477C>A	ENSP00000382815:p.Gly221Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.G221V	ENST00000399933.3	37	c.662		9	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779312	0.70107	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.68	4.68	0.58851	.	0.000000	0.50627	U	0.000120	T	0.65626	0.2709	L	0.36672	1.1	0.54753	D	0.99998	D	0.71674	0.998	D	0.64687	0.928	T	0.69566	-0.5111	9	0.87932	D	0	.	15.1088	0.72340	0.0:0.8581:0.1419:0.0	.	221	Q5HYC2	K2026_HUMAN	V	221	.	ENSP00000370870:G221V	G	-	2	0	KIAA2026	5978477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.907000	0.63300	2.309000	0.77851	0.484000	0.47621	GGA	KIAA2026	-	NULL	ENSG00000183354		0.433	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	60	0.00	0	C	NM_001017969		5988477	5988477	-1	no_errors	ENST00000399933	ensembl	human	novel	69_37n	missense	47	14.55	8	SNP	1.000	A
LAMB2	3913	genome.wustl.edu	37	3	49168209	49168209	+	Missense_Mutation	SNP	G	G	A	rs187004232	byFrequency	TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr3:49168209G>A	ENST00000418109.1	-	9	1164	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R334C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	334	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCAGCCGGACGCCAGGGCAGG	0.577																																						dbGAP											0													155.0	146.0	149.0					3																	49168209		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1000C>T	3.37:g.49168209G>A	ENSP00000388325:p.Arg334Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R334C	ENST00000418109.1	37	c.1000	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892410	0.72524	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.62232	0.04;0.04	5.11	5.11	0.69529	EGF-like, laminin (4);	0.174798	0.44902	D	0.000410	T	0.79592	0.4472	M	0.91717	3.235	0.54753	D	0.99998	D	0.67145	0.996	P	0.58331	0.837	D	0.83726	0.0195	10	0.87932	D	0	.	12.8447	0.57823	0.0:0.0:0.8366:0.1634	.	334	P55268	LAMB2_HUMAN	C	334	ENSP00000388325:R334C;ENSP00000307156:R334C	ENSP00000307156:R334C	R	-	1	0	LAMB2	49143213	1.000000	0.71417	0.986000	0.45419	0.922000	0.55478	5.738000	0.68613	2.808000	0.96608	0.655000	0.94253	CGT	LAMB2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000172037		0.577	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	43	0.00	0	G	NM_002292		49168209	49168209	-1	no_errors	ENST00000305544	ensembl	human	known	69_37n	missense	35	23.40	11	SNP	0.996	A
MAP1B	4131	genome.wustl.edu	37	5	71492990	71492991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr5:71492990_71492991insC	ENST00000296755.7	+	5	4106_4107	c.3808_3809insC	c.(3808-3810)accfs	p.T1270fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1270					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTTAGAAAAGACCCCCCTGGGT	0.515																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3814dupC	5.37:g.71492996_71492996dupC	ENSP00000296755:p.Thr1270fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDK5	Frame_Shift_Ins	INS	pfam_MAP1B_neuraxin	p.L1272fs	ENST00000296755.7	37	c.3808_3809	CCDS4012.1	5																																																																																			MAP1B	-	NULL	ENSG00000131711		0.515	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	30	0.00	0	-	NM_005909		71492990	71492991	+1	no_errors	ENST00000296755	ensembl	human	known	69_37n	frame_shift_ins	26	27.78	10	INS	1.000:1.000	C
MAP2	4133	genome.wustl.edu	37	2	210560612	210560612	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr2:210560612G>T	ENST00000360351.4	+	7	4224	c.3718G>T	c.(3718-3720)Gaa>Taa	p.E1240*	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E1236*|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1240					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGAAGAGATAGAAGCCCAGGG	0.493																																					Pancreas(27;423 979 28787 29963)	dbGAP											0													73.0	77.0	76.0					2																	210560612		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3718G>T	2.37:g.210560612G>T	ENSP00000353508:p.Glu1240*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.E1240*	ENST00000360351.4	37	c.3718	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.847159	0.98522	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	.	.	.	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-23.2722	19.7531	0.96277	0.0:0.0:1.0:0.0	.	.	.	.	X	1240;1236	.	ENSP00000353508:E1240X	E	+	1	0	MAP2	210268857	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.364000	0.52328	2.684000	0.91462	0.650000	0.86243	GAA	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	44	0.00	0	G	NM_001039538		210560612	210560612	+1	no_errors	ENST00000360351	ensembl	human	known	69_37n	nonsense	39	18.75	9	SNP	0.989	T
MS4A14	84689	genome.wustl.edu	37	11	60184021	60184021	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr11:60184021C>T	ENST00000300187.6	+	5	1857	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F	MS4A14_ENST00000395005.2_Missense_Mutation_p.S510F|MS4A14_ENST00000531783.1_Missense_Mutation_p.S560F|MS4A14_ENST00000531787.1_Missense_Mutation_p.S415F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	527	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGCTGGCAATCTCCAAAGCAG	0.438																																						dbGAP											0													81.0	82.0	82.0					11																	60184021		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1580C>T	11.37:g.60184021C>T	ENSP00000300187:p.Ser527Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.S527F	ENST00000300187.6	37	c.1580	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333135	0.41297	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.41400	1.0;2.14;1.0;2.51	4.34	2.36	0.29203	.	6.748070	0.00166	N	0.000013	T	0.58075	0.2097	M	0.62723	1.935	0.09310	N	1	D;D	0.57571	0.98;0.966	P;P	0.56865	0.808;0.648	T	0.22695	-1.0209	10	0.87932	D	0	-0.0108	7.5045	0.27536	0.3317:0.5068:0.1615:0.0	.	510;527	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	F	415;527;510;560	ENSP00000437222:S415F;ENSP00000300187:S527F;ENSP00000378453:S510F;ENSP00000433761:S560F	ENSP00000300187:S527F	S	+	2	0	MS4A14	59940597	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.125000	0.10579	0.484000	0.27630	0.650000	0.86243	TCT	MS4A14	-	NULL	ENSG00000166928		0.438	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	34	0.00	0	C			60184021	60184021	+1	no_errors	ENST00000300187	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	0.000	T
MYO6	4646	genome.wustl.edu	37	6	76551053	76551054	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr6:76551053_76551054insTA	ENST00000369977.3	+	9	913_914	c.774_775insTA	c.(775-777)attfs	p.I259fs	MYO6_ENST00000369975.1_Frame_Shift_Ins_p.I259fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.I259fs|MYO6_ENST00000369981.3_Frame_Shift_Ins_p.I259fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	259	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTTCTGAAGATATTAGAGAAAA	0.371																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	Exception_encountered	6.37:g.76551053_76551054insTA	ENSP00000358994:p.Ile259fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.I258fs	ENST00000369977.3	37	c.774_775	CCDS34487.1	6																																																																																			MYO6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000196586		0.371	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	63	0.00	0	-	NM_004999		76551053	76551054	+1	no_errors	ENST00000369981	ensembl	human	known	69_37n	frame_shift_ins	89	16.04	17	INS	0.991:1.000	TA
PGBD1	84547	genome.wustl.edu	37	6	28269126	28269126	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr6:28269126G>A	ENST00000405948.2	+	7	1915	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	PGBD1_ENST00000259883.3_Missense_Mutation_p.E499K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	499						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGACAGATTTGAATTGATTTT	0.373																																						dbGAP											0													117.0	118.0	118.0					6																	28269126		2203	4300	6503	-	-	-	SO:0001583	missense	0			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1495G>A	6.37:g.28269126G>A	ENSP00000385213:p.Glu499Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN	p.E499K	ENST00000405948.2	37	c.1495	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138753	0.56936	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.18174	2.23;2.23	4.66	4.66	0.58398	.	0.000000	0.44285	D	0.000462	T	0.10465	0.0256	L	0.54323	1.7	0.38160	D	0.939004	B	0.24618	0.107	B	0.32928	0.155	T	0.05131	-1.0904	10	0.27082	T	0.32	-12.8004	13.256	0.60079	0.0:0.0:1.0:0.0	.	499	Q96JS3	PGBD1_HUMAN	K	499	ENSP00000385213:E499K;ENSP00000259883:E499K	ENSP00000259883:E499K	E	+	1	0	PGBD1	28377105	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.471000	0.45127	2.581000	0.87130	0.655000	0.94253	GAA	PGBD1	-	NULL	ENSG00000137338		0.373	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	27	0.00	0	G			28269126	28269126	+1	no_errors	ENST00000259883	ensembl	human	known	69_37n	missense	39	23.08	12	SNP	1.000	A
PI16	221476	genome.wustl.edu	37	6	36922584	36922584	+	Silent	SNP	A	A	G			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr6:36922584A>G	ENST00000373674.3	+	1	376	c.48A>G	c.(46-48)ctA>ctG	p.L16L		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	16					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						cgctactgctactgctggtgG	0.607																																						dbGAP											0													48.0	49.0	49.0					6																	36922584		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.48A>G	6.37:g.36922584A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.L16	ENST00000373674.3	37	c.48	CCDS34440.1	6																																																																																			PI16	-	NULL	ENSG00000164530		0.607	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI16	HGNC	protein_coding	OTTHUMT00000040380.1	33	0.00	0	A	NM_153370		36922584	36922584	+1	no_errors	ENST00000373674	ensembl	human	known	69_37n	silent	18	21.74	5	SNP	0.602	G
PLB1	151056	genome.wustl.edu	37	2	28775833	28775833	+	Silent	SNP	C	C	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr2:28775833C>T	ENST00000327757.5	+	17	1166	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D	PLB1_ENST00000329020.6_Silent_p.D62D|PLB1_ENST00000422425.2_Silent_p.D385D	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	374	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGACAAAGACCCCTCCGATA	0.438																																						dbGAP											0													143.0	145.0	144.0					2																	28775833		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1122C>T	2.37:g.28775833C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.T384I	ENST00000327757.5	37	c.1151	CCDS33168.1	2	.	.	.	.	.	.	.	.	.	.	C	0.263	-0.998447	0.02145	.	.	ENSG00000163803	ENST00000404858	.	.	.	5.65	-7.59	0.01308	.	.	.	.	.	T	0.34629	0.0904	.	.	.	0.50171	D	0.999852	.	.	.	.	.	.	T	0.42783	-0.9431	4	.	.	.	-10.1532	1.6773	0.02824	0.3591:0.3804:0.1199:0.1406	.	.	.	.	I	384	.	.	T	+	2	0	PLB1	28629337	0.000000	0.05858	0.182000	0.23118	0.053000	0.15095	-1.259000	0.02861	-1.040000	0.03271	-0.268000	0.10319	ACC	PLB1	-	NULL	ENSG00000163803		0.438	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	50	0.00	0	C			28775833	28775833	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000404858	ensembl	human	putative	69_37n	missense	49	16.95	10	SNP	0.046	T
POC1A	25886	genome.wustl.edu	37	3	52109949	52109949	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr3:52109949T>G	ENST00000296484.2	-	11	1217	c.1178A>C	c.(1177-1179)cAg>cCg	p.Q393P	POC1A_ENST00000394970.2_Missense_Mutation_p.Q345P|POC1A_ENST00000474012.1_Missense_Mutation_p.Q355P	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	393					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CTCCAGACACTGCTTCAGCTT	0.542																																						dbGAP											0													171.0	152.0	158.0					3																	52109949		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.1178A>C	3.37:g.52109949T>G	ENSP00000296484:p.Gln393Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q393P	ENST00000296484.2	37	c.1178	CCDS2846.1	3	.	.	.	.	.	.	.	.	.	.	T	16.27	3.077039	0.55753	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.47528	0.84;0.84;0.84	5.35	5.35	0.76521	.	0.129436	0.51477	D	0.000097	T	0.37812	0.1017	L	0.40543	1.245	0.36770	D	0.883747	P;P	0.39665	0.531;0.682	B;B	0.35510	0.204;0.184	T	0.52283	-0.8596	10	0.62326	D	0.03	.	11.6381	0.51215	0.0:0.0:0.0:1.0	.	345;393	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	P	393;345;355	ENSP00000296484:Q393P;ENSP00000378421:Q345P;ENSP00000418968:Q355P	ENSP00000296484:Q393P	Q	-	2	0	POC1A	52084989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.204000	0.65180	2.247000	0.74100	0.533000	0.62120	CAG	POC1A	-	NULL	ENSG00000164087		0.542	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1A	HGNC	protein_coding	OTTHUMT00000349685.1	48	0.00	0	T	NM_015426		52109949	52109949	-1	no_errors	ENST00000296484	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	1.000	G
RAB9B	51209	genome.wustl.edu	37	X	103080689	103080689	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chrX:103080689T>G	ENST00000243298.2	-	3	310	c.26A>C	c.(25-27)aAg>aCg	p.K9T		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	9					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						GAGAATGACCTTTAAGAGCAG	0.433																																						dbGAP											0													126.0	121.0	122.0					X																	103080689		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"""RAB, member RAS oncogene"""	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.26A>C	X.37:g.103080689T>G	ENSP00000243298:p.Lys9Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8M0|Q52LX2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K9T	ENST00000243298.2	37	c.26	CCDS14515.1	X	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497632	0.64186	.	.	ENSG00000123570	ENST00000243298	D	0.86030	-2.06	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94248	0.8153	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95432	0.8517	10	0.87932	D	0	-3.306	13.1314	0.59385	0.0:0.0:0.0:1.0	.	9	Q9NP90	RAB9B_HUMAN	T	9	ENSP00000243298:K9T	ENSP00000243298:K9T	K	-	2	0	RAB9B	102967345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.010000	0.58986	0.486000	0.48141	AAG	RAB9B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000123570		0.433	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB9B	HGNC	protein_coding	OTTHUMT00000057746.1	31	0.00	0	T			103080689	103080689	-1	no_errors	ENST00000243298	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	G
RFC2	5982	genome.wustl.edu	37	7	73651677	73651677	+	Intron	SNP	G	G	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr7:73651677G>A	ENST00000055077.3	-	9	901				RFC2_ENST00000352131.3_Intron	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa						DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CCAGGACGGGGGGAAGGAGGC	0.552																																						dbGAP											0													83.0	59.0	67.0					7																	73651677		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0				CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"""ATPases / AAA-type"""	9970	protein-coding gene	gene with protein product	"""activator 1"""	600404	"""replication factor C (activator 1) 2 (40kD)"""			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.840+14C>T	7.37:g.73651677G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU07|D3DXG3|P32846|Q9BU93	Missense_Mutation	SNP	superfamily_DNA_pol3_clamp-load_cplx_C	p.P78S	ENST00000055077.3	37	c.232	CCDS5568.1	7																																																																																			RFC2	-	NULL	ENSG00000049541		0.552	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC2	HGNC	protein_coding	OTTHUMT00000252459.2	58	0.00	0	G	NM_181471		73651677	73651677	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000485545	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	0.000	A
RNF182	221687	genome.wustl.edu	37	6	13977923	13977923	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr6:13977923G>T	ENST00000488300.1	+	3	1096	c.573G>T	c.(571-573)ttG>ttT	p.L191F	RNF182_ENST00000544682.1_Missense_Mutation_p.L191F|RNF182_ENST00000537663.1_Missense_Mutation_p.L191F|RNF182_ENST00000537388.1_Missense_Mutation_p.L191F	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	191					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TGCTAGGTTTGCTCTACTTCA	0.512																																						dbGAP											0													219.0	221.0	220.0					6																	13977923		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.573G>T	6.37:g.13977923G>T	ENSP00000420465:p.Leu191Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDG2|Q8NBG3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L191F	ENST00000488300.1	37	c.573	CCDS4531.1	6	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697334	0.48202	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000537388	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.27	3.4	0.38934	.	0.225077	0.38663	N	0.001609	T	0.06142	0.0159	L	0.32530	0.975	0.45979	D	0.998794	D	0.71674	0.998	D	0.80764	0.994	T	0.36529	-0.9744	9	.	.	.	-16.1261	6.8846	0.24193	0.1463:0.0:0.7125:0.1412	.	191	Q8N6D2	RN182_HUMAN	F	191	ENSP00000443228:L191F;ENSP00000420465:L191F;ENSP00000442021:L191F;ENSP00000441271:L191F	.	L	+	3	2	RNF182	14085902	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.331000	0.33793	1.201000	0.43203	0.563000	0.77884	TTG	RNF182	-	NULL	ENSG00000180537		0.512	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF182	HGNC	protein_coding	OTTHUMT00000039911.2	90	0.00	0	G	NM_152737		13977923	13977923	+1	no_errors	ENST00000488300	ensembl	human	known	69_37n	missense	105	24.46	34	SNP	1.000	T
SLC8A1	6546	genome.wustl.edu	37	2	40656069	40656069	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr2:40656069G>T	ENST00000403092.1	-	2	1385	c.1352C>A	c.(1351-1353)gCa>gAa	p.A451E	SLC8A1_ENST00000332839.4_Missense_Mutation_p.A451E|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A451E|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A451E|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A451E|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A451E|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A451E|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A451E|SLC8A1_ENST00000406785.2_Missense_Mutation_p.A451E|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A451E			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	451	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCCAGCATTTGCTGTGCCATC	0.443																																						dbGAP											0													84.0	75.0	78.0					2																	40656069		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1352C>A	2.37:g.40656069G>T	ENSP00000384763:p.Ala451Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.A451E	ENST00000403092.1	37	c.1352	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941367	0.73557	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	H	0.99740	4.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.995;1.0;1.0;1.0	D	0.94225	0.7471	10	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	451;451;451;451;451	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	E	451	ENSP00000383886:A451E;ENSP00000440727:A451E;ENSP00000384763:A451E;ENSP00000385678:A451E;ENSP00000385188:A451E;ENSP00000385535:A451E;ENSP00000332931:A451E;ENSP00000384908:A451E;ENSP00000385811:A451E;ENSP00000443515:A451E	ENSP00000332931:A451E	A	-	2	0	SLC8A1	40509573	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.669000	0.98622	2.941000	0.99782	0.655000	0.94253	GCA	SLC8A1	-	pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex	ENSG00000183023		0.443	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	14	0.00	0	G	NM_021097		40656069	40656069	-1	no_errors	ENST00000332839	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	1.000	T
SNX19	399979	genome.wustl.edu	37	11	130781614	130781614	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr11:130781614T>C	ENST00000265909.4	-	2	2296	c.1727A>G	c.(1726-1728)tAc>tGc	p.Y576C	SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000545537.1_5'Flank|SNX19_ENST00000539184.1_Missense_Mutation_p.Y19C|SNX19_ENST00000533214.1_Missense_Mutation_p.Y576C|SNX19_ENST00000533318.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	576	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CACAGTGTGGTAGGCCAGCTG	0.502																																						dbGAP											0													104.0	101.0	102.0					11																	130781614		2201	4297	6498	-	-	-	SO:0001583	missense	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1727A>G	11.37:g.130781614T>C	ENSP00000265909:p.Tyr576Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKB9|Q8IV55	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.Y576C	ENST00000265909.4	37	c.1727	CCDS31721.1	11	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690430	0.68271	.	.	ENSG00000120451	ENST00000265909;ENST00000539184;ENST00000533214	T;T;T	0.39406	1.08;1.08;1.08	5.53	5.53	0.82687	Phox homologous domain (5);	0.307589	0.37219	N	0.002186	T	0.42899	0.1223	N	0.24115	0.695	0.80722	D	1	B;P;P	0.48407	0.268;0.817;0.91	B;P;P	0.52343	0.14;0.499;0.696	T	0.30208	-0.9986	10	0.39692	T	0.17	-14.8221	15.6678	0.77247	0.0:0.0:0.0:1.0	.	19;576;576	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	C	576;19;576	ENSP00000265909:Y576C;ENSP00000443480:Y19C;ENSP00000435390:Y576C	ENSP00000265909:Y576C	Y	-	2	0	SNX19	130286824	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.909000	0.56363	2.108000	0.64289	0.533000	0.62120	TAC	SNX19	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000120451		0.502	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	73	0.00	0	T	NM_014758		130781614	130781614	-1	no_errors	ENST00000265909	ensembl	human	known	69_37n	missense	29	50.00	29	SNP	1.000	C
STAG2	10735	genome.wustl.edu	37	X	123196791	123196791	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chrX:123196791A>T	ENST00000371160.1	+	18	1968	c.1678A>T	c.(1678-1680)Agg>Tgg	p.R560W	STAG2_ENST00000371145.3_Missense_Mutation_p.R560W|STAG2_ENST00000354548.5_Missense_Mutation_p.R491W|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.R560W|STAG2_ENST00000371157.3_Missense_Mutation_p.R560W|STAG2_ENST00000371144.3_Missense_Mutation_p.R560W	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	560					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTTGGATGATAGGACAAAAAT	0.363																																						dbGAP											0													106.0	96.0	100.0					X																	123196791		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1678A>T	X.37:g.123196791A>T	ENSP00000360202:p.Arg560Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R560W	ENST00000371160.1	37	c.1678	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047316	0.75846	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.78	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.048975	0.85682	D	0.000000	T	0.34308	0.0893	M	0.72894	2.215	0.51012	D	0.999907	D;D	0.62365	0.98;0.991	P;D	0.72625	0.908;0.978	T	0.02132	-1.1208	9	.	.	.	-19.3267	12.0393	0.53444	0.8577:0.1423:0.0:0.0	.	560;560	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	W	560;491;560;560;560;560	ENSP00000218089:R560W;ENSP00000346555:R491W;ENSP00000360202:R560W;ENSP00000360199:R560W;ENSP00000360187:R560W;ENSP00000360186:R560W	.	R	+	1	2	STAG2	123024472	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.438000	0.52871	0.763000	0.33175	0.437000	0.28790	AGG	STAG2	-	superfamily_ARM-type_fold	ENSG00000101972		0.363	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	43	0.00	0	A	NM_006603		123196791	123196791	+1	no_errors	ENST00000218089	ensembl	human	known	69_37n	missense	23	45.24	19	SNP	1.000	T
TMX3	54495	genome.wustl.edu	37	18	66354926	66354926	+	Silent	SNP	G	G	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr18:66354926G>T	ENST00000299608.2	-	10	1030	c.714C>A	c.(712-714)ctC>ctA	p.L238L	TMX3_ENST00000566887.1_5'Flank	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	238					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GTTCATACAAGAGGAAGCCAT	0.343																																						dbGAP											0													163.0	148.0	153.0					18																	66354926		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.714C>A	18.37:g.66354926G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Silent	SNP	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.L238	ENST00000299608.2	37	c.714	CCDS32840.1	18																																																																																			TMX3	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold	ENSG00000166479		0.343	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TMX3	HGNC	protein_coding	OTTHUMT00000420155.1	40	0.00	0	G	NM_019022		66354926	66354926	-1	no_errors	ENST00000299608	ensembl	human	known	69_37n	silent	38	29.63	16	SNP	0.993	T
TP53	7157	genome.wustl.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000420246.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000574684.1_5'Flank	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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"""	158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	GRCh37	CM034930	TP53	M							132.0	103.0	113.0					17																	7577568		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713G>T	17.37:g.7577568C>A	ENSP00000269305:p.Cys238Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C238F	ENST00000269305.4	37	c.713	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262614	0.80358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238F;ENSP00000352610:C238F;ENSP00000269305:C238F;ENSP00000398846:C238F;ENSP00000391127:C238F;ENSP00000391478:C238F;ENSP00000425104:C106F;ENSP00000423862:C145F	ENSP00000269305:C238F	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	40	0.00	0	C	NM_000546		7577568	7577568	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	13	53.57	15	SNP	1.000	A
TSEN54	283989	genome.wustl.edu	37	17	73520470	73520470	+	Silent	SNP	T	T	C			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr17:73520470T>C	ENST00000333213.6	+	11	1594	c.1558T>C	c.(1558-1560)Ttg>Ctg	p.L520L	LLGL2_ENST00000375227.4_5'Flank|LLGL2_ENST00000578363.1_5'Flank|LLGL2_ENST00000392550.3_5'Flank|LLGL2_ENST00000167462.5_5'Flank	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	520					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGACTTCACGTTGCCCCAGGA	0.587																																						dbGAP											0													139.0	116.0	124.0					17																	73520470		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1558T>C	17.37:g.73520470T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WV3|Q86XE4|Q8N9H2	Silent	SNP	NULL	p.L520	ENST00000333213.6	37	c.1558	CCDS11724.1	17																																																																																			TSEN54	-	NULL	ENSG00000182173		0.587	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	HGNC	protein_coding	OTTHUMT00000447618.1	59	0.00	0	T	NM_207346		73520470	73520470	+1	no_errors	ENST00000333213	ensembl	human	known	69_37n	silent	55	15.38	10	SNP	0.999	C
UNC13B	10497	genome.wustl.edu	37	9	35295823	35295823	+	Silent	SNP	G	G	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr9:35295823G>A	ENST00000378495.3	+	8	879	c.657G>A	c.(655-657)ccG>ccA	p.P219P	UNC13B_ENST00000396787.1_Silent_p.P231P|UNC13B_ENST00000378496.4_Silent_p.P219P	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	219					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TCCCTGTGCCGGTGCGATCGC	0.542																																						dbGAP											0													103.0	83.0	90.0					9																	35295823		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.657G>A	9.37:g.35295823G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYM8	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.P231	ENST00000378495.3	37	c.693	CCDS6579.1	9																																																																																			UNC13B	-	NULL	ENSG00000198722		0.542	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	57	0.00	0	G	NM_006377		35295823	35295823	+1	no_errors	ENST00000396787	ensembl	human	known	69_37n	silent	14	63.16	24	SNP	0.000	A
USH2A	7399	genome.wustl.edu	37	1	216246478	216246479	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr1:216246478_216246479insT	ENST00000307340.3	-	28	6122_6123	c.5736_5737insA	c.(5734-5739)aaagagfs	p.E1913fs	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Frame_Shift_Ins_p.E1913fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1913	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACACTCTGCTCTTTTCCCTGGT	0.475										HNSCC(13;0.011)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5737dupA	1.37:g.216246482_216246482dupT	ENSP00000305941:p.Glu1913fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.E1912fs	ENST00000307340.3	37	c.5737_5736	CCDS31025.1	1																																																																																			USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000042781		0.475	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	39	0.00	0	-	NM_007123		216246478	216246479	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	frame_shift_ins	70	13.58	11	INS	0.002:0.001	T
YTHDF1	54915	genome.wustl.edu	37	20	61834989	61834989	+	Silent	SNP	G	G	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr20:61834989G>A	ENST00000370339.3	-	4	644	c.303C>T	c.(301-303)caC>caT	p.H101H	YTHDF1_ENST00000370333.4_Silent_p.H51H|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	101							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AAACAGCATCGTGCATAAAAT	0.532																																						dbGAP											0													101.0	104.0	103.0					20																	61834989		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.303C>T	20.37:g.61834989G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.H101	ENST00000370339.3	37	c.303	CCDS13511.1	20																																																																																			YTHDF1	-	NULL	ENSG00000149658		0.532	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF1	HGNC	protein_coding	OTTHUMT00000080110.2	34	0.00	0	G	NM_017798		61834989	61834989	-1	no_errors	ENST00000370339	ensembl	human	known	69_37n	silent	65	20.48	17	SNP	0.006	A
ZAN	7455	genome.wustl.edu	37	7	100385563	100385563	+	RNA	DEL	C	C	-	rs72364644|rs113714278|rs369526619	byFrequency	TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr7:100385563delC	ENST00000348028.3	+	0	7196				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATTTGACGGCTTCAGCTACC	0.582																																						dbGAP											0													62.0	42.0	49.0					7																	100385563		1937	3412	5349	-	-	-			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100385563delC		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom	p.F2344fs	ENST00000348028.3	37	c.7029		7																																																																																			ZAN	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000146839		0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	25	0.00	0	C	NM_003386		100385563	100385563	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	frame_shift_del	7	14.29	2	DEL	0.005	-
ZFP36L2	678	genome.wustl.edu	37	2	43453434	43453434	+	Silent	SNP	G	G	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr2:43453434G>A	ENST00000282388.3	-	1	314	c.21C>T	c.(19-21)tcC>tcT	p.S7S	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	7					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGTAGAAGGCGGACAGAAGTG	0.657																																						dbGAP											0													60.0	51.0	54.0					2																	43453434		2194	4296	6490	-	-	-	SO:0001819	synonymous_variant	0			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.21C>T	2.37:g.43453434G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TB4|Q9BSJ3	Silent	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.S7	ENST00000282388.3	37	c.21	CCDS1811.1	2																																																																																			ZFP36L2	-	pfam_Tis11B_N	ENSG00000152518		0.657	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	27	0.00	0	G	NM_006887		43453434	43453434	-1	no_errors	ENST00000282388	ensembl	human	known	69_37n	silent	21	34.38	11	SNP	0.998	A
ZNF233	353355	genome.wustl.edu	37	19	44778658	44778658	+	Silent	SNP	G	G	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr19:44778658G>A	ENST00000391958.2	+	5	1972	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.T597T|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	615					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GGATCCACACGGGAGAGAAAC	0.438																																						dbGAP											0													95.0	93.0	94.0					19																	44778658		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1845G>A	19.37:g.44778658G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN78|B2RN79|Q86WL8	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.T615	ENST00000391958.2	37	c.1845	CCDS33047.1	19																																																																																			ZNF233	-	pfscan_Znf_C2H2	ENSG00000159915		0.438	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	52	0.00	0	G	NM_181756		44778658	44778658	+1	no_errors	ENST00000391958	ensembl	human	known	69_37n	silent	61	20.51	16	SNP	0.042	A
ZP4	57829	genome.wustl.edu	37	1	238051727	238051727	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1X5-01A-11D-A14G-09	TCGA-D8-A1X5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db4526d4-e344-4b5a-bb66-fd43b41764ca	6d77bba9-4db6-4277-b5ce-b7e3d2f1d7cc	g.chr1:238051727C>A	ENST00000366570.4	-	4	642	c.484G>T	c.(484-486)Gga>Tga	p.G162*	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	162	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCACAGTCTCCTCGAGAGATG	0.507																																					NSCLC(166;160 2029 11600 18754 19936)	dbGAP											0													129.0	114.0	119.0					1																	238051727		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.484G>T	1.37:g.238051727C>A	ENSP00000355529:p.Gly162*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAE1	Nonsense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.G162*	ENST00000366570.4	37	c.484	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428581	0.62844	.	.	ENSG00000116996	ENST00000366570	.	.	.	4.82	2.93	0.34026	.	0.487239	0.22223	N	0.062932	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.0626	8.3457	0.32272	0.0:0.8062:0.0:0.1938	.	.	.	.	X	162	.	ENSP00000355529:G162X	G	-	1	0	ZP4	236118350	0.012000	0.17670	0.002000	0.10522	0.045000	0.14185	0.640000	0.24705	0.996000	0.38943	0.655000	0.94253	GGA	ZP4	-	pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil	ENSG00000116996		0.507	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	44	0.00	0	C			238051727	238051727	-1	no_errors	ENST00000366570	ensembl	human	known	69_37n	nonsense	73	13.10	11	SNP	0.001	A
