#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABTB1	80325	genome.wustl.edu	37	3	127396675	127396675	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:127396675G>A	ENST00000232744.8	+	10	1104	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	ABTB1_ENST00000453791.2_Missense_Mutation_p.D198N|ABTB1_ENST00000393363.3_Missense_Mutation_p.D198N|ABTB1_ENST00000468137.1_Missense_Mutation_p.D198N					ankyrin repeat and BTB (POZ) domain containing 1									p.D340N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CATGTACAGCGACCACACTGA	0.657																																																	1	Substitution - Missense(1)	large_intestine(1)											32.0	31.0	31.0					3																	127396675		2203	4300	6503	SO:0001583	missense	0			AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1018G>A	3.37:g.127396675G>A	ENSP00000232744:p.Asp340Asn			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.D340N	ENST00000232744.8	37	c.1018	CCDS3045.1	3	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065382	0.55432	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.17	4.3	0.51218	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.046186	0.85682	N	0.000000	T	0.29524	0.0736	M	0.75884	2.315	0.80722	D	1	P;B;P	0.47409	0.895;0.184;0.487	B;B;B	0.38712	0.28;0.076;0.062	T	0.20306	-1.0279	10	0.51188	T	0.08	-5.576	13.665	0.62389	0.0748:0.0:0.9252:0.0	.	176;340;315	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	N	176;198;340;198;198	ENSP00000377030:D198N;ENSP00000232744:D340N;ENSP00000412684:D198N;ENSP00000417366:D198N	ENSP00000232744:D340N	D	+	1	0	ABTB1	128879365	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	7.882000	0.87258	1.164000	0.42652	0.591000	0.81541	GAC	ABTB1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000114626		0.657	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB1	HGNC	protein_coding	OTTHUMT00000356595.1		0.00	10	0	G	NM_172027		127396675	+1			no_errors	ENST00000232744	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	A
ABTB2	25841	genome.wustl.edu	37	11	34378857	34378857	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:34378857G>A	ENST00000435224.2	-	1	698	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	ABTB2_ENST00000298992.2_5'Flank	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	92					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCCAGCTCGGGGAGCCGCGGA	0.711																																																	0																																										SO:0001583	missense	0			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.274C>T	11.37:g.34378857G>A	ENSP00000410157:p.Pro92Ser		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.P92S	ENST00000435224.2	37	c.274	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489192	0.84962	.	.	ENSG00000166016	ENST00000435224	T	0.62639	0.01	5.2	5.2	0.72013	.	.	.	.	.	T	0.74809	0.3765	M	0.76328	2.33	0.80722	D	1	.	.	.	.	.	.	T	0.71984	-0.4427	7	0.27082	T	0.32	.	17.7306	0.88376	0.0:0.0:1.0:0.0	.	.	.	.	S	92	ENSP00000410157:P92S	ENSP00000410157:P92S	P	-	1	0	ABTB2	34335433	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	9.294000	0.96088	2.432000	0.82394	0.484000	0.47621	CCC	ABTB2	-	NULL	ENSG00000166016		0.711	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	HGNC	protein_coding	OTTHUMT00000388703.3	-	0.00	38	0	G	NM_145804		34378857	-1	tier1	-	no_errors	ENST00000435224	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	A
ABTB2	25841	genome.wustl.edu	37	11	34378866	34378866	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:34378866G>A	ENST00000435224.2	-	1	689	c.265C>T	c.(265-267)Ccg>Tcg	p.P89S	ABTB2_ENST00000298992.2_5'Flank	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	89					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGGAGCCGCGGACAGCGCGAG	0.701																																																	0																																										SO:0001583	missense	0			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.265C>T	11.37:g.34378866G>A	ENSP00000410157:p.Pro89Ser		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.P89S	ENST00000435224.2	37	c.265	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608114	0.28623	.	.	ENSG00000166016	ENST00000435224	T	0.57752	0.38	5.2	5.2	0.72013	.	.	.	.	.	T	0.55689	0.1936	L	0.43923	1.385	0.80722	D	1	.	.	.	.	.	.	T	0.45934	-0.9227	7	0.15952	T	0.53	.	17.7306	0.88376	0.0:0.0:1.0:0.0	.	.	.	.	S	89	ENSP00000410157:P89S	ENSP00000410157:P89S	P	-	1	0	ABTB2	34335442	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.098000	0.71458	2.432000	0.82394	0.484000	0.47621	CCG	ABTB2	-	NULL	ENSG00000166016		0.701	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	HGNC	protein_coding	OTTHUMT00000388703.3	-	0.00	42	0	G	NM_145804		34378866	-1	tier1	-	no_errors	ENST00000435224	ensembl	human	known	74_37	missense	25.00	36	12	SNP	1.000	A
ABTB2	25841	genome.wustl.edu	37	11	34378895	34378895	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:34378895G>A	ENST00000435224.2	-	1	660	c.236C>T	c.(235-237)cCc>cTc	p.P79L	ABTB2_ENST00000298992.2_5'Flank	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	79					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGCCACTTCGGGGTCCTCGGG	0.701																																																	0																																										SO:0001583	missense	0			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.236C>T	11.37:g.34378895G>A	ENSP00000410157:p.Pro79Leu		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.P79L	ENST00000435224.2	37	c.236	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654317	0.67472	.	.	ENSG00000166016	ENST00000435224	T	0.59364	0.27	5.42	5.42	0.78866	.	.	.	.	.	T	0.67401	0.2889	L	0.60455	1.87	0.80722	D	1	.	.	.	.	.	.	T	0.62101	-0.6925	7	0.27082	T	0.32	.	18.2168	0.89889	0.0:0.0:1.0:0.0	.	.	.	.	L	79	ENSP00000410157:P79L	ENSP00000410157:P79L	P	-	2	0	ABTB2	34335471	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.304000	0.96190	2.550000	0.86006	0.484000	0.47621	CCC	ABTB2	-	NULL	ENSG00000166016		0.701	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	HGNC	protein_coding	OTTHUMT00000388703.3	-	0.00	47	0	G	NM_145804		34378895	-1	tier1	-	no_errors	ENST00000435224	ensembl	human	known	74_37	missense	28.26	33	13	SNP	1.000	A
ANKDD1A	348094	genome.wustl.edu	37	15	65236929	65236929	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr15:65236929C>A	ENST00000380230.3	+	12	1175	c.1146C>A	c.(1144-1146)ttC>ttA	p.F382L	ANKDD1A_ENST00000357698.3_Intron|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.F382L|ANKDD1A_ENST00000395723.1_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	382					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTGATCGTTTCTACAGATGGG	0.517																																																	0													115.0	95.0	101.0					15																	65236929		2202	4299	6501	SO:0001583	missense	0				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1146C>A	15.37:g.65236929C>A	ENSP00000369579:p.Phe382Leu		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt	p.F382L	ENST00000380230.3	37	c.1146	CCDS10197.2	15	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392181	0.42410	.	.	ENSG00000166839	ENST00000380230;ENST00000395720	T;T	0.33865	1.39;1.41	5.23	3.22	0.36961	Ankyrin repeat-containing domain (1);	0.086087	0.45867	N	0.000335	T	0.22666	0.0547	L	0.34521	1.04	0.80722	D	1	B	0.13594	0.008	B	0.18263	0.021	T	0.04708	-1.0932	10	0.12103	T	0.63	-16.7793	7.9299	0.29897	0.0:0.7567:0.0:0.2433	.	382	Q495B1	AKD1A_HUMAN	L	382	ENSP00000369579:F382L;ENSP00000379070:F382L	ENSP00000369579:F382L	F	+	3	2	ANKDD1A	63023982	0.998000	0.40836	0.967000	0.41034	0.993000	0.82548	0.525000	0.22956	1.447000	0.47661	0.591000	0.81541	TTC	ANKDD1A	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000166839		0.517	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKDD1A	HGNC	protein_coding	OTTHUMT00000256705.2		0.00	19	0	C	NM_182703		65236929	+1			no_errors	ENST00000380230	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.999	A
ANKRD35	148741	genome.wustl.edu	37	1	145563081	145563081	+	Silent	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:145563081C>T	ENST00000355594.4	+	10	2856	c.2769C>T	c.(2767-2769)tgC>tgT	p.C923C		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	923										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGGGGCTTGCCGAGACAAGG	0.552																																					Melanoma(9;127 754 22988 51047)												0													25.0	28.0	27.0					1																	145563081		2201	4296	6497	SO:0001819	synonymous_variant	0			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2769C>T	1.37:g.145563081C>T			A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.C923	ENST00000355594.4	37	c.2769	CCDS919.1	1																																																																																			ANKRD35	-	NULL	ENSG00000198483		0.552	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	HGNC	protein_coding	OTTHUMT00000038515.1		0.00	44	0	C	NM_144698		145563081	+1			no_errors	ENST00000355594	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	T
AP2A1	160	genome.wustl.edu	37	19	50303389	50303389	+	Silent	SNP	C	C	A	rs368042642		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:50303389C>A	ENST00000359032.5	+	11	1437	c.1437C>A	c.(1435-1437)gcC>gcA	p.A479A	AP2A1_ENST00000354293.5_Silent_p.A479A	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	479					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		AGGGCTATGCCGCCAAGACCG	0.617																																																	0													69.0	77.0	74.0					19																	50303389		2151	4242	6393	SO:0001819	synonymous_variant	0			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1437C>A	19.37:g.50303389C>A			Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.A479	ENST00000359032.5	37	c.1437	CCDS46148.1	19																																																																																			AP2A1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu	ENSG00000196961		0.617	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1		0.00	42	0	C			50303389	+1			no_errors	ENST00000354293	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.015	A
CORT	1325	genome.wustl.edu	37	1	10511557	10511557	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:10511557delA	ENST00000377049.3	+	2	728	c.223delA	c.(223-225)aggfs	p.R76fs	APITD1-CORT_ENST00000400900.2_Frame_Shift_Del_p.R135fs|APITD1_ENST00000602787.1_Frame_Shift_Del_p.R135fs|APITD1_ENST00000602296.1_3'UTR|APITD1-CORT_ENST00000470413.2_3'UTR|APITD1-CORT_ENST00000465026.1_3'UTR|CORT_ENST00000320498.4_Frame_Shift_Del_p.R126fs	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin	76					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		GGAGGTGGCCAGGCGGCAGGA	0.612																																																	0													22.0	28.0	26.0					1																	10511557		2202	4300	6502	SO:0001589	frameshift_variant	0			AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"""Endogenous ligands"""	2257	protein-coding gene	gene with protein product	"""prepro-cortistatin"""	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.223delA	1.37:g.10511557delA	ENSP00000366248:p.Arg76fs		Q5T6G0|Q6UX11	Frame_Shift_Del	DEL	pfam_Somatostatin/Cortistatin_C,superfamily_Histone-fold	p.R134fs	ENST00000377049.3	37	c.400	CCDS117.2	1																																																																																			APITD1-CORT	-	NULL	ENSG00000251503		0.612	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	APITD1-CORT	HGNC	protein_coding	OTTHUMT00000005410.3		0.00	49	0	A	NM_001302		10511557	+1	tier1		no_errors	ENST00000400900	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	0.014	-
ARHGEF17	9828	genome.wustl.edu	37	11	73068098	73068098	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:73068098C>T	ENST00000263674.3	+	8	4270	c.3920C>T	c.(3919-3921)tCt>tTt	p.S1307F	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1307					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AAGGACCGGTCTCTCTTCCTG	0.632																																																	0													113.0	92.0	99.0					11																	73068098		2200	4293	6493	SO:0001583	missense	0			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3920C>T	11.37:g.73068098C>T	ENSP00000263674:p.Ser1307Phe		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.S1307F	ENST00000263674.3	37	c.3920	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768320	0.69878	.	.	ENSG00000110237	ENST00000263674	T	0.27402	1.67	4.8	3.9	0.45041	Pleckstrin homology-type (1);	0.120763	0.56097	D	0.000021	T	0.49389	0.1554	L	0.59436	1.845	0.58432	D	0.999997	D	0.76494	0.999	D	0.85130	0.997	T	0.48281	-0.9049	10	0.52906	T	0.07	-20.6628	12.1235	0.53905	0.0:0.9173:0.0:0.0827	.	1307	Q96PE2	ARHGH_HUMAN	F	1307	ENSP00000263674:S1307F	ENSP00000263674:S1307F	S	+	2	0	ARHGEF17	72745746	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.630000	0.83225	1.251000	0.43983	0.491000	0.48974	TCT	ARHGEF17	-	NULL	ENSG00000110237		0.632	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	-	0.00	42	0	C	NM_014786		73068098	+1	tier1	-	no_errors	ENST00000263674	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	T
ATF6B	1388	genome.wustl.edu	37	6	32083613	32083613	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:32083613G>T	ENST00000375203.3	-	18	2047	c.2015C>A	c.(2014-2016)cCa>cAa	p.P672Q	ATF6B_ENST00000375201.4_Missense_Mutation_p.P669Q	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	672					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GCCTGGGGTTGGGGATGGCTG	0.602																																																	0													62.0	65.0	64.0					6																	32083613		2203	4300	6503	SO:0001583	missense	0				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.2015C>A	6.37:g.32083613G>T	ENSP00000364349:p.Pro672Gln		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.P672Q	ENST00000375203.3	37	c.2015	CCDS4737.1	6	.	.	.	.	.	.	.	.	.	.	g	11.18	1.561517	0.27915	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.56275	0.47;1.22	5.05	4.17	0.49024	.	0.259713	0.23256	U	0.050194	T	0.21145	0.0509	L	0.38175	1.15	0.32357	N	0.557628	B;B	0.15719	0.005;0.014	B;B	0.12156	0.004;0.007	T	0.08576	-1.0715	10	0.12430	T	0.62	-1.5869	13.0296	0.58835	0.0:0.0:0.8379:0.1621	.	669;672	Q99941-2;Q99941	.;ATF6B_HUMAN	Q	672;669	ENSP00000364349:P672Q;ENSP00000364347:P669Q	ENSP00000364347:P669Q	P	-	2	0	ATF6B	32191591	0.997000	0.39634	0.633000	0.29310	0.579000	0.36224	2.556000	0.45862	1.230000	0.43646	0.461000	0.40582	CCA	ATF6B	-	NULL	ENSG00000213676		0.602	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2		0.00	39	0	G			32083613	-1			no_errors	ENST00000375203	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.968	T
ATP1A1	476	genome.wustl.edu	37	1	116932186	116932186	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:116932186A>T	ENST00000295598.5	+	8	1132	c.880A>T	c.(880-882)Atc>Ttc	p.I294F	ATP1A1_ENST00000369496.4_Missense_Mutation_p.I263F|ATP1A1_ENST00000537345.1_Missense_Mutation_p.I294F|ATP1A1_ENST00000491156.1_3'UTR	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	294					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TTTTATCCACATCATCACGGG	0.507																																																	0													255.0	212.0	227.0					1																	116932186		2203	4300	6503	SO:0001583	missense	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.880A>T	1.37:g.116932186A>T	ENSP00000295598:p.Ile294Phe		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.I294F	ENST00000295598.5	37	c.880	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.999620	0.54147	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.88509	-2.39;-2.39;-2.39	5.03	-4.52	0.03472	ATPase, P-type, ATPase-associated domain (1);	0.435771	0.25848	N	0.027914	D	0.86628	0.5978	L	0.48218	1.51	0.43756	D	0.996261	P;P	0.36144	0.483;0.539	P;P	0.50590	0.512;0.645	T	0.81202	-0.1040	10	0.48119	T	0.1	.	21.2287	0.99949	0.8533:0.1467:0.0:0.0	.	294;294	F5H3A1;P05023	.;AT1A1_HUMAN	F	294;294;293;263	ENSP00000295598:I294F;ENSP00000445306:I294F;ENSP00000358508:I263F	ENSP00000295598:I294F	I	+	1	0	ATP1A1	116733709	0.851000	0.29673	0.028000	0.17463	0.910000	0.53928	1.590000	0.36654	-1.049000	0.03234	-0.340000	0.08031	ATC	ATP1A1	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000163399		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	-	0.00	84	0	A	NM_001160233		116932186	+1	tier1	-	no_errors	ENST00000295598	ensembl	human	known	74_37	missense	22.47	69	20	SNP	0.185	T
BAG6	7917	genome.wustl.edu	37	6	31610093	31610093	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:31610093G>C	ENST00000375964.6	-	15	2354	c.2041C>G	c.(2041-2043)Cct>Gct	p.P681A	BAG6_ENST00000211379.5_Missense_Mutation_p.P675A|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000362049.6_Missense_Mutation_p.P675A|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000404765.2_Missense_Mutation_p.P711A|BAG6_ENST00000375976.4_Missense_Mutation_p.P675A	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	681	Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCACCAGAAGGGGAGCCTGGT	0.642																																																	0													5.0	6.0	6.0					6																	31610093		1456	2649	4105	SO:0001583	missense	0			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2041C>G	6.37:g.31610093G>C	ENSP00000365131:p.Pro681Ala		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.P711A	ENST00000375964.6	37	c.2131	CCDS47403.1	6	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804714	0.50315	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000362049;ENST00000437771	T;T;T;T;T;T	0.44482	1.37;1.37;1.37;1.4;1.4;0.92	5.93	5.93	0.95920	.	0.306550	0.35838	N	0.002950	T	0.45756	0.1358	L	0.46157	1.445	0.41859	D	0.990218	D;P;P	0.67145	0.996;0.9;0.859	D;P;P	0.73708	0.981;0.543;0.648	T	0.13522	-1.0506	10	0.13853	T	0.58	.	17.325	0.87244	0.0:0.0:1.0:0.0	.	675;681;675	F8VXY4;P46379;P46379-2	.;BAG6_HUMAN;.	A	675;681;675;711;675;711	ENSP00000365143:P675A;ENSP00000365131:P681A;ENSP00000211379:P675A;ENSP00000384494:P711A;ENSP00000354875:P675A;ENSP00000397978:P711A	ENSP00000211379:P675A	P	-	1	0	BAG6	31718072	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.686000	0.54685	2.833000	0.97629	0.650000	0.86243	CCT	BAG6	-	NULL	ENSG00000204463		0.642	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	HGNC	protein_coding			0.00	26	0	G	NM_080703		31610093	-1			no_errors	ENST00000404765	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	C
BBS1	582	genome.wustl.edu	37	11	66297394	66297394	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:66297394G>A	ENST00000318312.7	+	14	1495	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Missense_Mutation_p.A353T|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.A519T|BBS1_ENST00000455748.2_Missense_Mutation_p.A385T	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	482					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GTCCACGACAGCCCGAGAGCC	0.682									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												0													49.0	34.0	39.0					11																	66297394		2200	4295	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1444G>A	11.37:g.66297394G>A	ENSP00000317469:p.Ala482Thr		Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.A519T	ENST00000318312.7	37	c.1555	CCDS8142.1	11	.	.	.	.	.	.	.	.	.	.	G	4.779	0.144899	0.09134	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.96745	-4.04;-4.11;-3.93;-3.84	3.97	2.97	0.34412	.	.	.	.	.	D	0.89767	0.6810	N	0.25890	0.77	0.80722	D	1	B;B;B;B;B;B	0.21147	0.002;0.052;0.041;0.003;0.001;0.001	B;B;B;B;B;B	0.20955	0.002;0.012;0.032;0.004;0.002;0.002	T	0.82339	-0.0506	9	0.11794	T	0.64	.	5.0966	0.14737	0.1157:0.2143:0.67:0.0	.	157;385;353;370;482;519	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	T	519;482;385;353	ENSP00000398526:A519T;ENSP00000317469:A482T;ENSP00000405764:A385T;ENSP00000377563:A353T	ENSP00000317469:A482T	A	+	1	0	BBS1;CTD-3074O7.11	66053970	0.915000	0.31059	0.759000	0.31340	0.188000	0.23474	1.960000	0.40422	2.226000	0.72624	0.650000	0.86243	GCC	CTD-3074O7.11	-	NULL	ENSG00000256349		0.682	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS1	Clone_based_vega_gene	protein_coding	OTTHUMT00000393235.2		0.00	84	0	G			66297394	+1			no_errors	ENST00000419755	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.999	A
BUB1	699	genome.wustl.edu	37	2	111398882	111398882	+	Splice_Site	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:111398882G>T	ENST00000302759.6	-	22	2902		c.e22+1		BUB1_ENST00000535254.1_Splice_Site|BUB1_ENST00000478175.1_5'Flank|BUB1_ENST00000409311.1_Intron	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CATAACACTTGCCCGTTTCCA	0.383																																																	0													121.0	119.0	119.0					2																	111398882		2203	4300	6503	SO:0001630	splice_region_variant	0			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2783+1C>A	2.37:g.111398882G>T			E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Splice_Site	SNP	-	e22+2	ENST00000302759.6	37	c.2783+2	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642535	0.29246	.	.	ENSG00000169679	ENST00000535254;ENST00000302759	.	.	.	5.87	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3802	0.32466	0.2415:0.0:0.7585:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BUB1	111115354	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	1.892000	0.39748	0.923000	0.37045	0.655000	0.94253	.	BUB1	-	-	ENSG00000169679		0.383	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	-	0.00	23	0	G	NM_004336	Intron	111398882	-1	tier1	-	no_errors	ENST00000302759	ensembl	human	known	74_37	splice_site	34.29	23	12	SNP	1.000	T
C17orf100	388327	genome.wustl.edu	37	17	6555655	6555658	+	Frame_Shift_Del	DEL	GCCA	GCCA	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	GCCA	GCCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr17:6555655_6555658delGCCA	ENST00000391428.2	+	1	685_688	c.422_425delGCCA	c.(421-426)tgccagfs	p.CQ141fs	MED31_ENST00000575197.1_5'Flank|MED31_ENST00000574128.1_5'Flank|MED31_ENST00000225728.3_5'Flank|CTC-281F24.1_ENST00000576138.1_RNA	NM_001105520.1	NP_001098990.1	A8MU93	CQ100_HUMAN	chromosome 17 open reading frame 100	141																	GCCTCCAGTTGCCAGCCAGCCAGC	0.559																																																	0																																										SO:0001589	frameshift_variant	0			BC028174, BC038956, BC052606	CCDS73952.1	17p13.2	2014-04-10			ENSG00000212734	ENSG00000256806			34494	protein-coding gene	gene with protein product							Standard	NM_001105520		Approved	LOC388327	uc010clp.1	A8MU93	OTTHUMG00000188340	ENST00000391428.2:c.422_425delGCCA	17.37:g.6555663_6555666delGCCA	ENSP00000375247:p.Cys141fs			Frame_Shift_Del	DEL	NULL	p.S145fs	ENST00000391428.2	37	c.422_425		17																																																																																			C17orf100	-	NULL	ENSG00000212734		0.559	C17orf100-001	KNOWN	basic|appris_principal	protein_coding	C17orf100	HGNC	protein_coding	OTTHUMT00000255575.2		0.00	36	0	GCCA	NM_001105520		6555658	+1	tier1		no_errors	ENST00000391428	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	0.122:0.120:0.117:0.113	-
C2orf68	388969	genome.wustl.edu	37	2	85838860	85838860	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:85838860T>A	ENST00000306336.5	-	2	201	c.157A>T	c.(157-159)Agg>Tgg	p.R53W	USP39_ENST00000450066.2_5'Flank|C2orf68_ENST00000478626.1_5'UTR|C2orf68_ENST00000409734.3_Missense_Mutation_p.R53W|USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	53										breast(1)|central_nervous_system(1)|endometrium(1)	3						GTGTGCCGCCTCCTCACCTTC	0.731																																																	0													12.0	16.0	15.0					2																	85838860		1956	4110	6066	SO:0001583	missense	0				CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.157A>T	2.37:g.85838860T>A	ENSP00000304410:p.Arg53Trp		B4DT10|Q4G0J7|Q6ZVA6	Missense_Mutation	SNP	pfam_UPF0561	p.R53W	ENST00000306336.5	37	c.157	CCDS42704.1	2	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874794	0.91664	.	.	ENSG00000168887	ENST00000306336;ENST00000409734	.	.	.	5.44	5.44	0.79542	.	0.099510	0.64402	D	0.000002	T	0.74550	0.3731	L	0.55481	1.735	0.45272	D	0.998276	D;D	0.89917	1.0;0.995	D;D	0.83275	0.996;0.954	T	0.76955	-0.2767	9	0.87932	D	0	-23.311	13.4932	0.61408	0.0:0.0:0.0:1.0	.	53;53	Q2NKX9-3;Q2NKX9	.;CB068_HUMAN	W	53	.	ENSP00000304410:R53W	R	-	1	2	C2orf68	85692371	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	4.410000	0.59774	2.285000	0.76669	0.477000	0.44152	AGG	C2orf68	-	pfam_UPF0561	ENSG00000168887		0.731	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf68	HGNC	protein_coding	OTTHUMT00000329451.1	-	0.00	36	0	T	NM_001013649		85838860	-1	tier1	-	no_errors	ENST00000306336	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	A
CARD9	64170	genome.wustl.edu	37	9	139262253	139262253	+	Missense_Mutation	SNP	C	C	A	rs141270365	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr9:139262253C>A	ENST00000371732.5	-	8	1270	c.1105G>T	c.(1105-1107)Gca>Tca	p.A369S	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Missense_Mutation_p.A369S	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	369					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCGTGCTGTGCGTGCAGCTCC	0.711																																																	0													30.0	27.0	28.0					9																	139262253		2195	4291	6486	SO:0001583	missense	0			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1105G>T	9.37:g.139262253C>A	ENSP00000360797:p.Ala369Ser		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.A369S	ENST00000371732.5	37	c.1105	CCDS6997.1	9	.	.	.	.	.	.	.	.	.	.	C	0.907	-0.720325	0.03182	.	.	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.30714	1.52;1.52	3.51	-7.01	0.01594	.	1.351400	0.05133	N	0.492886	T	0.21921	0.0528	L	0.50333	1.59	0.09310	N	0.999997	B;B;B	0.30634	0.288;0.082;0.014	B;B;B	0.26094	0.066;0.065;0.018	T	0.17592	-1.0364	10	0.09338	T	0.73	0.1369	10.3512	0.43937	0.0:0.5208:0.2023:0.277	.	265;369;369	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	S	369	ENSP00000360799:A369S;ENSP00000360797:A369S	ENSP00000360797:A369S	A	-	1	0	CARD9	138382074	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.870000	0.01641	-2.633000	0.00433	-1.421000	0.01109	GCA	CARD9	-	NULL	ENSG00000187796		0.711	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD9	HGNC	protein_coding	OTTHUMT00000055053.1	-	0.00	10	0	C	NM_052813		139262253	-1	tier1	-	no_errors	ENST00000371732	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.000	A
CASKIN2	57513	genome.wustl.edu	37	17	73502696	73502696	+	Silent	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr17:73502696C>T	ENST00000321617.3	-	7	1171	c.585G>A	c.(583-585)ttG>ttA	p.L195L	CASKIN2_ENST00000581870.1_Silent_p.L195L|CASKIN2_ENST00000433559.2_Silent_p.L113L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	195						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	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)			TCTTGGCAGCCAAGTGCAGGG	0.612																																																	0													111.0	100.0	104.0					17																	73502696		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.585G>A	17.37:g.73502696C>T			B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.L195	ENST00000321617.3	37	c.585	CCDS11723.1	17																																																																																			CASKIN2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000177303		0.612	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1		0.00	37	0	C	NM_020753		73502696	-1			no_errors	ENST00000321617	ensembl	human	known	74_37	silent	6.67	28	2	SNP	1.000	T
CD14	929	genome.wustl.edu	37	5	140012199	140012199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:140012199C>A	ENST00000302014.6	-	2	999	c.370G>T	c.(370-372)Gag>Tag	p.E124*	CD14_ENST00000401743.2_Nonsense_Mutation_p.E124*	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	124					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)	p.E124Q(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAGGTCCTCGAGCGTCAGT	0.632																																																	1	Substitution - Missense(1)	lung(1)											54.0	50.0	52.0					5																	140012199		2202	4299	6501	SO:0001587	stop_gained	0				CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.370G>T	5.37:g.140012199C>A	ENSP00000304236:p.Glu124*		Q53XT5|Q96FR6|Q96L99|Q9UNS3	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14	p.E124*	ENST00000302014.6	37	c.370	CCDS4232.1	5	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755411	0.69648	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971	.	.	.	5.96	2.12	0.27331	.	0.467437	0.19378	N	0.115725	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-21.8816	6.6961	0.23199	0.0:0.5551:0.2892:0.1557	.	.	.	.	X	124	.	ENSP00000304236:E124X	E	-	1	0	CD14	139992383	0.316000	0.24580	0.112000	0.21494	0.131000	0.20780	0.814000	0.27239	0.392000	0.25172	-0.150000	0.13652	GAG	CD14	-	pirsf_Monocyte_diff_Ag_CD14	ENSG00000170458		0.632	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD14	HGNC	protein_coding	OTTHUMT00000251681.2		0.00	44	0	C	NM_000591		140012199	-1			no_errors	ENST00000302014	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.031	A
CD200R1	131450	genome.wustl.edu	37	3	112643345	112643345	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:112643345C>T	ENST00000471858.1	-	6	1079	c.847G>A	c.(847-849)Gtt>Att	p.V283I	CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000308611.3_Missense_Mutation_p.V306I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	283					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						ACCTCCTCAACAACTGGAGTA	0.269																																																	0													100.0	89.0	92.0					3																	112643345		2193	4287	6480	SO:0001583	missense	0			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.847G>A	3.37:g.112643345C>T	ENSP00000418928:p.Val283Ile		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like_dom	p.V306I	ENST00000471858.1	37	c.916	CCDS2970.1	3	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800609	0.16397	.	.	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.14144	2.57;2.53	4.61	-1.14	0.09741	.	2.952780	0.01831	U	0.034700	T	0.07638	0.0192	N	0.12746	0.255	0.09310	N	1	B;B	0.20550	0.027;0.046	B;B	0.15484	0.006;0.013	T	0.25187	-1.0139	10	0.25751	T	0.34	.	4.3225	0.11023	0.4987:0.3073:0.0:0.1939	.	283;306	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	I	283;306	ENSP00000418928:V283I;ENSP00000311035:V306I	ENSP00000311035:V306I	V	-	1	0	CD200R1	114126035	0.000000	0.05858	0.005000	0.12908	0.077000	0.17291	-0.512000	0.06313	-0.517000	0.06461	0.563000	0.77884	GTT	CD200R1	-	NULL	ENSG00000163606		0.269	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200R1	HGNC	protein_coding	OTTHUMT00000354467.1	-	0.00	51	0	C	NM_138806		112643345	-1	tier1	-	no_errors	ENST00000308611	ensembl	human	known	74_37	missense	23.23	76	23	SNP	0.005	T
CD5L	922	genome.wustl.edu	37	1	157805945	157805945	+	Splice_Site	SNP	G	G	A	rs377627339		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:157805945G>A	ENST00000368174.4	-	3	152	c.56C>T	c.(55-57)gCg>gTg	p.A19V	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	19					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.A19V(2)|p.A19E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGATGGAGACGCTGCAAAGAG	0.592																																																	3	Substitution - Missense(3)	breast(2)|lung(1)						G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	32.0	35.0	34.0		56	-2.7	0.0	1		34	0,8600		0,0,4300	no	missense-near-splice	CD5L	NM_005894.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	19/348	157805945	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	0			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.56-1C>T	1.37:g.157805945G>A			A8K7M5|Q6UX63	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.A19V	ENST00000368174.4	37	c.56	CCDS1171.1	1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.297044	0.23650	2.27E-4	0.0	ENSG00000073754	ENST00000368174	T	0.01446	4.88	4.85	-2.73	0.05950	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.00356	0.0011	N	0.14661	0.345	0.09310	N	1	B	0.25048	0.117	B	0.18871	0.023	T	0.39722	-0.9600	9	0.33141	T	0.24	.	5.7632	0.18211	0.0:0.392:0.1524:0.4556	.	19	O43866	CD5L_HUMAN	V	19	ENSP00000357156:A19V	ENSP00000357156:A19V	A	-	2	0	CD5L	156072569	0.000000	0.05858	0.014000	0.15608	0.049000	0.14656	-1.272000	0.02826	-0.712000	0.04988	-0.388000	0.06559	GCG	CD5L	-	superfamily_Srcr_rcpt-rel	ENSG00000073754		0.592	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5L	HGNC	protein_coding	OTTHUMT00000058346.1	-	0.00	9	0	G	NM_005894	Missense_Mutation	157805945	-1	tier1	-	no_errors	ENST00000368174	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.012	A
CDC40	51362	genome.wustl.edu	37	6	110528714	110528714	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:110528714G>A	ENST00000368932.1	+	5	513	c.412G>A	c.(412-414)Gca>Aca	p.A138T	CDC40_ENST00000368930.1_Missense_Mutation_p.A138T|CDC40_ENST00000307731.1_Missense_Mutation_p.A138T			O60508	PRP17_HUMAN	cell division cycle 40	138					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTCAGGTTATGCATTAGACCC	0.254																																																	0													98.0	107.0	104.0					6																	110528714		2203	4295	6498	SO:0001583	missense	0			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.412G>A	6.37:g.110528714G>A	ENSP00000357928:p.Ala138Thr		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A138T	ENST00000368932.1	37	c.412	CCDS5081.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.516496|5.516496	0.96402|0.96402	.|.	.|.	ENSG00000168438|ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165;ENST00000453107|ENST00000431461	T;T;T;T|.	0.66460|.	-0.05;-0.21;-0.21;-0.05|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65913|0.65913	0.2737|0.2737	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.55965|.	0.788|.	T|T	0.60954|0.60954	-0.7160|-0.7160	10|5	0.51188|.	T|.	0.08|.	-9.413|-9.413	19.9384|19.9384	0.97150|0.97150	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|.	O60508|.	PRP17_HUMAN|.	T|Y	138;138;138;138;138;35|30	ENSP00000357928:A138T;ENSP00000357929:A138T;ENSP00000357926:A138T;ENSP00000304370:A138T|.	ENSP00000304370:A138T|.	A|C	+|+	1|2	0|0	CDC40|CDC40	110635407|110635407	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.174000|9.174000	0.94824|0.94824	2.717000|2.717000	0.92951|0.92951	0.585000|0.585000	0.79938|0.79938	GCA|TGC	CDC40	-	NULL	ENSG00000168438		0.254	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1	-	0.00	77	0	G	NM_015891		110528714	+1	tier1	-	no_errors	ENST00000307731	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A
CDH10	1008	genome.wustl.edu	37	5	24491785	24491785	+	Silent	SNP	T	T	C			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:24491785T>C	ENST00000264463.4	-	11	2283	c.1776A>G	c.(1774-1776)caA>caG	p.Q592Q	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	592	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCATGTTGCCTTGGCTGTCAC	0.537										HNSCC(23;0.051)																																							0													160.0	138.0	145.0					5																	24491785		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1776A>G	5.37:g.24491785T>C			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q592	ENST00000264463.4	37	c.1776	CCDS3892.1	5																																																																																			CDH10	-	smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.537	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0.00	23	0	T	NM_006727		24491785	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	silent	38.46	24	15	SNP	0.197	C
CDHR3	222256	genome.wustl.edu	37	7	105668106	105668106	+	Intron	SNP	A	A	T	rs145019687		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:105668106A>T	ENST00000317716.9	+	17	2352				CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000478080.1_Intron|CDHR3_ENST00000542731.1_Splice_Site	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TGttttaattaaaaaaaaaaa	0.423																																																	0																																										SO:0001627	intron_variant	0			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2273-891A>T	7.37:g.105668106A>T			Q8TCI7	Splice_Site	SNP	-	e16-2	ENST00000317716.9	37	c.2259-2	CCDS47684.1	7																																																																																			CDHR3	-	-	ENSG00000128536		0.423	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	-	0.00	42	0	A	NM_152750		105668106	+1	tier1	rs145019687	no_errors	ENST00000542731	ensembl	human	known	74_37	splice_site	11.90	33	5	SNP	0.000	T
CNPY3	10695	genome.wustl.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-	rs570105218	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_ENST00000394142.3_In_Frame_Del_p.17_18LL>L	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	17					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695																																																	1	Deletion - In frame(1)	central_nervous_system(1)																																								SO:0001651	inframe_deletion	0			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.50_52delTGC	6.37:g.42897367_42897369delTGC	ENSP00000361926:p.Leu25del		O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	In_Frame_Del	DEL	pfam_DUF3456	p.L21in_frame_del	ENST00000372836.4	37	c.50_52	CCDS4875.1	6																																																																																			CNPY3	-	NULL	ENSG00000137161		0.695	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY3	HGNC	protein_coding	OTTHUMT00000040564.1		0.00	20	0	TGC	NM_006586		42897360	+1	tier1		no_errors	ENST00000372836	ensembl	human	known	74_37	in_frame_del	13.64	19	3	DEL	0.122:0.131:0.153	-
CNTN6	27255	genome.wustl.edu	37	3	1363504	1363504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:1363504delA	ENST00000446702.2	+	8	1559	c.932delA	c.(931-933)caafs	p.Q311fs	CNTN6_ENST00000350110.2_Frame_Shift_Del_p.Q311fs|CNTN6_ENST00000539053.1_Frame_Shift_Del_p.Q239fs			Q9UQ52	CNTN6_HUMAN	contactin 6	311					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCAAAGGGTCAACTCATTTTT	0.358																																																	0													78.0	85.0	82.0					3																	1363504		2203	4298	6501	SO:0001589	frameshift_variant	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.932delA	3.37:g.1363504delA	ENSP00000407822:p.Gln311fs		Q2KHM2	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q311fs	ENST00000446702.2	37	c.932	CCDS2557.1	3																																																																																			CNTN6	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000134115		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2		0.00	23	0	A	NM_014461		1363504	+1	tier1		no_errors	ENST00000350110	ensembl	human	known	74_37	frame_shift_del	61.90	8	13	DEL	1.000	-
CRY2	1408	genome.wustl.edu	37	11	45891258	45891258	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:45891258A>G	ENST00000443527.2	+	7	1169	c.1147A>G	c.(1147-1149)Atc>Gtc	p.I383V	CRY2_ENST00000417225.2_Missense_Mutation_p.I301V	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	362					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GATTGATGCCATCATGACCCA	0.652																																					Esophageal Squamous(106;91 1499 8126 12599 39610)												0													79.0	79.0	79.0					11																	45891258		2203	4299	6502	SO:0001583	missense	0			AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1147A>G	11.37:g.45891258A>G	ENSP00000406751:p.Ile383Val		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.I383V	ENST00000443527.2	37	c.1147	CCDS7915.2	11	.	.	.	.	.	.	.	.	.	.	A	23.4	4.412506	0.83340	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.99	5.99	0.97316	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.100306	0.64402	D	0.000003	T	0.71745	0.3376	M	0.81497	2.545	0.58432	D	0.999999	P;P;P	0.43392	0.682;0.481;0.805	B;B;P	0.46940	0.352;0.303;0.532	T	0.73366	-0.4005	9	0.41790	T	0.15	-26.9473	16.4943	0.84223	1.0:0.0:0.0:0.0	.	362;383;301	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	V	301;383	.	ENSP00000397419:I301V	I	+	1	0	CRY2	45847834	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	ATC	CRY2	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C	ENSG00000121671		0.652	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	HGNC	protein_coding	OTTHUMT00000330235.2	-	0.00	37	0	A	NM_021117		45891258	+1	tier1	-	no_errors	ENST00000443527	ensembl	human	known	74_37	missense	32.35	23	11	SNP	1.000	G
CTNND1	1500	genome.wustl.edu	37	11	57563062	57563062	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:57563062delT	ENST00000399050.4	+	5	817	c.281delT	c.(280-282)cttfs	p.L95fs	CTNND1_ENST00000529986.1_5'UTR|CTNND1_ENST00000415361.2_5'UTR|CTNND1_ENST00000532649.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000530094.1_5'UTR|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000426142.2_5'UTR|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000529919.1_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000528232.1_5'UTR|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000532844.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000526938.1_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000524630.1_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000532245.1_5'UTR|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000532787.1_5'UTR|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532463.1_5'UTR|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.L41fs	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	95					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CACAGTCACCTTCTATATAGC	0.458																																																	0													46.0	51.0	49.0					11																	57563062		1922	4120	6042	SO:0001589	frameshift_variant	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.281delT	11.37:g.57563062delT	ENSP00000382004:p.Leu95fs		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L95fs	ENST00000399050.4	37	c.281	CCDS44604.1	11																																																																																			CTNND1	-	NULL	ENSG00000198561		0.458	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1		0.00	35	0	T	NM_001331		57563062	+1	tier1		no_errors	ENST00000399050	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.992	-
DCAF12	25853	genome.wustl.edu	37	9	34089557	34089557	+	Silent	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr9:34089557G>T	ENST00000361264.4	-	8	1397	c.1056C>A	c.(1054-1056)atC>atA	p.I352I	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	352					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCACAGTGATGATGTGCTCGT	0.502																																																	0													73.0	67.0	69.0					9																	34089557		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.1056C>A	9.37:g.34089557G>T			A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I352	ENST00000361264.4	37	c.1056	CCDS6549.1	9																																																																																			DCAF12	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198876		0.502	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12	HGNC	protein_coding	OTTHUMT00000052133.2	-	0.00	50	0	G	NM_015397		34089557	-1	tier1	-	no_errors	ENST00000361264	ensembl	human	known	74_37	silent	32.84	45	22	SNP	1.000	T
DDHD1	80821	genome.wustl.edu	37	14	53525283	53525283	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr14:53525283C>T	ENST00000323669.5	-	9	1903	c.1904G>A	c.(1903-1905)cGc>cAc	p.R635H	DDHD1_ENST00000395606.1_Missense_Mutation_p.R642H|DDHD1_ENST00000357758.3_Missense_Mutation_p.R635H	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	635	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATTTCCTGGGCGGATGCCACG	0.388																																																	0													78.0	83.0	81.0					14																	53525283		2203	4300	6503	SO:0001583	missense	0			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1904G>A	14.37:g.53525283C>T	ENSP00000327104:p.Arg635His		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.R635H	ENST00000323669.5	37	c.1904	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.429557	0.96131	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	6.14	6.14	0.99180	DDHD (2);	0.045624	0.85682	D	0.000000	T	0.73705	0.3621	L	0.42581	1.335	0.80722	D	1	P;D;D;D	0.89917	0.919;1.0;1.0;1.0	P;D;D;D	0.77004	0.588;0.989;0.987;0.985	T	0.70212	-0.4934	9	0.41790	T	0.15	-14.1424	17.975	0.89124	0.0:1.0:0.0:0.0	.	31;642;635;635	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	H	635;642;635;506	.	ENSP00000327104:R635H	R	-	2	0	DDHD1	52595033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.927000	0.99377	0.637000	0.83480	CGC	DDHD1	-	pfam_DDHD,pfscan_DDHD	ENSG00000100523		0.388	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	-	0.00	53	0	C			53525283	-1	tier1	-	no_errors	ENST00000323669	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
DFNB31	25861	genome.wustl.edu	37	9	117186643	117186643	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr9:117186643G>T	ENST00000362057.3	-	6	1555	c.1387C>A	c.(1387-1389)Ctg>Atg	p.L463M	DFNB31_ENST00000265134.6_Missense_Mutation_p.L80M|DFNB31_ENST00000374059.3_Missense_Mutation_p.L112M	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	463					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCTTGAACAGGGCCATGACG	0.642																																																	0													111.0	97.0	102.0					9																	117186643		2203	4300	6503	SO:0001583	missense	0			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1387C>A	9.37:g.117186643G>T	ENSP00000354623:p.Leu463Met		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L463M	ENST00000362057.3	37	c.1387	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829096	0.71258	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.26810	2.45;2.41;1.71	5.49	4.58	0.56647	.	0.076817	0.53938	D	0.000045	T	0.39462	0.1079	L	0.56396	1.775	0.80722	D	1	P;D;D	0.60575	0.948;0.978;0.988	P;P;P	0.61800	0.46;0.64;0.894	T	0.05305	-1.0893	10	0.45353	T	0.12	-15.6475	9.0497	0.36369	0.0742:0.0:0.7781:0.1477	.	463;463;112	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	M	80;112;463	ENSP00000265134:L80M;ENSP00000363172:L112M;ENSP00000354623:L463M	ENSP00000265134:L80M	L	-	1	2	DFNB31	116226464	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.199000	0.58426	2.746000	0.94184	0.561000	0.74099	CTG	DFNB31	-	NULL	ENSG00000095397		0.642	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2		0.00	49	0	G	NM_015404		117186643	-1			no_errors	ENST00000362057	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.996	T
DGCR8	54487	genome.wustl.edu	37	22	20094812	20094812	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr22:20094812G>T	ENST00000351989.3	+	12	2444	c.2015G>T	c.(2014-2016)gGa>gTa	p.G672V	DGCR8_ENST00000383024.2_Missense_Mutation_p.G639V|DGCR8_ENST00000407755.1_Missense_Mutation_p.G639V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	672	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AAGAGAGTTGGAAAGCAGTTA	0.552																																																	0													111.0	97.0	102.0					22																	20094812		2203	4300	6503	SO:0001583	missense	0			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.2015G>T	22.37:g.20094812G>T	ENSP00000263209:p.Gly672Val		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom	p.G672V	ENST00000351989.3	37	c.2015	CCDS13773.1	22	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753932	0.89843	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.76448	-1.02;-1.02;-1.02	5.39	5.39	0.77823	Double-stranded RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.86944	0.6055	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87969	0.2735	10	0.87932	D	0	-13.955	17.9108	0.88934	0.0:0.0:1.0:0.0	.	639;672	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	V	672;639;639	ENSP00000263209:G672V;ENSP00000372488:G639V;ENSP00000384726:G639V	ENSP00000263209:G672V	G	+	2	0	DGCR8	18474812	1.000000	0.71417	0.945000	0.38365	0.964000	0.63967	9.112000	0.94314	2.536000	0.85505	0.491000	0.48974	GGA	DGCR8	-	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom	ENSG00000128191		0.552	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1		0.00	67	0	G			20094812	+1			no_errors	ENST00000351989	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
DMRTB1	63948	genome.wustl.edu	37	1	53927253	53927253	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:53927253C>T	ENST00000371445.3	+	2	740	c.685C>T	c.(685-687)Cct>Tct	p.P229S	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	229	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GGACGCCCCTCCTGGCGTCCC	0.662																																																	0													65.0	59.0	61.0					1																	53927253		2203	4300	6503	SO:0001583	missense	0			AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.685C>T	1.37:g.53927253C>T	ENSP00000360500:p.Pro229Ser		Q96SD2	Missense_Mutation	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.P229S	ENST00000371445.3	37	c.685	CCDS581.1	1	.	.	.	.	.	.	.	.	.	.	C	9.703	1.154959	0.21371	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	T	0.29655	1.56	4.79	-6.61	0.01818	.	0.718405	0.12348	N	0.476828	T	0.15955	0.0384	L	0.39898	1.24	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.21484	-1.0244	10	0.54805	T	0.06	0.3702	0.8162	0.01103	0.2182:0.1577:0.323:0.3011	.	229	Q96MA1	DMRTB_HUMAN	S	229;76	ENSP00000360500:P229S	ENSP00000360500:P229S	P	+	1	0	DMRTB1	53699841	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	-0.085000	0.11250	-1.252000	0.02491	0.655000	0.94253	CCT	DMRTB1	-	NULL	ENSG00000143006		0.662	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTB1	HGNC	protein_coding	OTTHUMT00000022110.1	-	0.00	30	0	C			53927253	+1	tier1	-	no_errors	ENST00000371445	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.000	T
ENPEP	2028	genome.wustl.edu	37	4	111430828	111430828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:111430828delT	ENST00000265162.5	+	5	1401	c.1059delT	c.(1057-1059)gatfs	p.D353fs	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	353					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTATTCCAGATTTTGGCACTG	0.403																																																	0													119.0	119.0	119.0					4																	111430828		2203	4300	6503	SO:0001589	frameshift_variant	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1059delT	4.37:g.111430828delT	ENSP00000265162:p.Asp353fs		Q504U2	Frame_Shift_Del	DEL	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.F354fs	ENST00000265162.5	37	c.1059	CCDS3691.1	4																																																																																			ENPEP	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000138792		0.403	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2		0.00	43	0	T			111430828	+1	tier1		no_errors	ENST00000265162	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-
ANKRD6	22881	genome.wustl.edu	37	6	90276680	90276680	+	5'UTR	SNP	C	C	G	rs560424198		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:90276680C>G	ENST00000522441.1	+	0	626				ANKRD6_ENST00000339746.4_5'UTR|ANKRD6_ENST00000485637.1_5'UTR|ANKRD6_ENST00000447838.2_5'UTR|RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000369408.5_5'UTR|ANKRD6_ENST00000520793.1_5'Flank|ANKRD6_ENST00000520886.2_Intron|RP11-16C18.3_ENST00000438267.1_RNA	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6						negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CCCTGAAAACCTTTCTTTCCT	0.507																																																	0													42.0	40.0	41.0					6																	90276680		1959	4149	6108	SO:0001623	5_prime_UTR_variant	0			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.-16C>G	6.37:g.90276680C>G			B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	RNA	SNP	-	NULL	ENST00000522441.1	37	NULL	CCDS56441.1	6																																																																																			RP11-16C18.3	-	-	ENSG00000237027		0.507	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000237027	Clone_based_vega_gene	protein_coding	OTTHUMT00000376594.1	-	0.00	22	0	C			90276680	-1	tier1	-	no_errors	ENST00000425588	ensembl	human	known	74_37	rna	58.82	7	10	SNP	0.994	G
AC096772.6	0	genome.wustl.edu	37	2	208687115	208687115	+	lincRNA	SNP	A	A	C			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:208687115A>C	ENST00000343987.2	-	0	378																											TACAGATTCAATTATGGATGG	0.333																																																	0																																												0																															2.37:g.208687115A>C				RNA	SNP	-	NULL	ENST00000343987.2	37	NULL		2																																																																																			AC096772.6	-	-	ENSG00000244567		0.333	AC096772.6-001	KNOWN	basic	lincRNA	ENSG00000244567	Clone_based_vega_gene	lincRNA	OTTHUMT00000337039.1	-	0.00	113	0	A			208687115	-1	tier1	-	no_errors	ENST00000343987	ensembl	human	known	74_37	rna	37.66	48	29	SNP	0.000	C
ENTPD2	954	genome.wustl.edu	37	9	139944734	139944734	+	Splice_Site	SNP	A	A	G			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr9:139944734A>G	ENST00000355097.2	-	6	1077		c.e6+1		RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000460614.1_5'Flank|ENTPD2_ENST00000312665.5_Splice_Site	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2						G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCCCTACTCACCACAAAGTT	0.617											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													59.0	76.0	70.0					9																	139944734		2201	4298	6499	SO:0001630	splice_region_variant	0			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1029+1T>C	9.37:g.139944734A>G		1652	O15464|Q5SPY6|Q5SPY7	Splice_Site	SNP	-	e6+2	ENST00000355097.2	37	c.1029+2	CCDS7026.1	9	.	.	.	.	.	.	.	.	.	.	a	12.17	1.858201	0.32791	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7446	0.40440	0.9144:0.0:0.0856:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ENTPD2	139064555	1.000000	0.71417	0.976000	0.42696	0.206000	0.24218	5.887000	0.69751	1.778000	0.52293	0.449000	0.29647	.	ENTPD2	-	-	ENSG00000054179		0.617	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD2	HGNC	protein_coding	OTTHUMT00000055169.1		0.00	48	0	A	NM_203468	Intron	139944734	-1			no_errors	ENST00000355097	ensembl	human	known	74_37	splice_site	9.30	39	4	SNP	1.000	G
FAM199X	139231	genome.wustl.edu	37	X	103432909	103432909	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chrX:103432909C>G	ENST00000493442.1	+	5	1084	c.918C>G	c.(916-918)aaC>aaG	p.N306K	FAM199X_ENST00000299906.5_Intron	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	306	Ser-rich.									breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CTGCTTCAAACTCCAGTGCCA	0.532																																																	0													132.0	128.0	129.0					X																	103432909		2203	4300	6503	SO:0001583	missense	0			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.918C>G	X.37:g.103432909C>G	ENSP00000417581:p.Asn306Lys		Q8WVP6|Q96AV3	Missense_Mutation	SNP	NULL	p.N306K	ENST00000493442.1	37	c.918	CCDS35364.1	X	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419585	0.25552	.	.	ENSG00000123575	ENST00000493442	T	0.43688	0.94	5.15	5.15	0.70609	.	0.090866	0.85682	D	0.000000	T	0.32556	0.0833	L	0.44542	1.39	0.47407	D	0.999416	B	0.31817	0.341	B	0.25140	0.058	T	0.10109	-1.0644	9	.	.	.	-14.9987	12.3835	0.55320	0.0:0.9132:0.0:0.0868	.	306	Q6PEV8	F199X_HUMAN	K	306	ENSP00000417581:N306K	.	N	+	3	2	FAM199X	103319565	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.840000	0.39230	2.270000	0.75569	0.506000	0.49869	AAC	FAM199X	-	NULL	ENSG00000123575		0.532	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM199X	HGNC	protein_coding	OTTHUMT00000057764.1	-	0.00	9	0	C	NM_207318		103432909	+1	tier1	-	no_errors	ENST00000493442	ensembl	human	known	74_37	missense	70.59	5	12	SNP	1.000	G
FAM20A	54757	genome.wustl.edu	37	17	66537011	66537011	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr17:66537011C>T	ENST00000592554.1	-	8	1920	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	AC079210.1_ENST00000600820.1_5'Flank|PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	400					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TCGAAGATGGCCATGTCGATG	0.557																																																	0													131.0	107.0	115.0					17																	66537011		2203	4300	6503	SO:0001583	missense	0			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1198G>A	17.37:g.66537011C>T	ENSP00000468308:p.Ala400Thr		B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	pfam_DUF1193	p.A400T	ENST00000592554.1	37	c.1198	CCDS11679.1	17	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103417	0.56291	.	.	ENSG00000108950	ENST00000226094	.	.	.	5.65	5.65	0.86999	.	0.195633	0.56097	N	0.000039	T	0.72439	0.3460	L	0.52573	1.65	0.54753	D	0.999988	D;D	0.63046	0.992;0.984	P;P	0.61070	0.883;0.698	T	0.66308	-0.5956	9	0.24483	T	0.36	-26.8465	19.7279	0.96172	0.0:1.0:0.0:0.0	.	400;262	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	T	400	.	ENSP00000226094:A400T	A	-	1	0	FAM20A	64048606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.887000	0.48586	2.659000	0.90383	0.561000	0.74099	GCC	FAM20A	-	pfam_DUF1193	ENSG00000108950		0.557	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20A	HGNC	protein_coding	OTTHUMT00000450029.2		0.00	45	0	C	NM_017565		66537011	-1			no_errors	ENST00000592554	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
FGG	2266	genome.wustl.edu	37	4	155528020	155528020	+	Silent	SNP	G	G	A	rs146218442		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:155528020G>A	ENST00000336098.3	-	8	1004	c.966C>T	c.(964-966)ggC>ggT	p.G322G	FGG_ENST00000404648.3_Silent_p.G322G|FGG_ENST00000407946.1_Silent_p.G330G|FGG_ENST00000405164.1_Silent_p.G330G	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	322	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGGATCATCGCCAAAATCAA	0.473																																																	0								G	,	0,4406		0,0,2203	241.0	212.0	222.0		966,966	-11.6	0.9	4	dbSNP_134	222	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FGG	NM_000509.4,NM_021870.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	322/438,322/454	155528020	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.966C>T	4.37:g.155528020G>A			A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.G322	ENST00000336098.3	37	c.966	CCDS3788.1	4																																																																																			FGG	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000171557		0.473	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	HGNC	protein_coding	OTTHUMT00000317581.1	-	0.00	43	0	G	NM_021870		155528020	-1	tier1	rs146218442	no_errors	ENST00000336098	ensembl	human	known	74_37	silent	56.52	10	13	SNP	0.007	A
FOXS1	2307	genome.wustl.edu	37	20	30432392	30432392	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr20:30432392delG	ENST00000375978.3	-	1	1028	c.954delC	c.(952-954)cccfs	p.P318fs		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	318					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GGTATAGGCAGGGGGTCAGCC	0.647																																																	0													46.0	47.0	47.0					20																	30432392		2202	4300	6502	SO:0001589	frameshift_variant	0			AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.954delC	20.37:g.30432392delG	ENSP00000365145:p.Pro318fs		Q96D28	Frame_Shift_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.C319fs	ENST00000375978.3	37	c.954	CCDS13192.1	20																																																																																			FOXS1	-	NULL	ENSG00000179772		0.647	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXS1	HGNC	protein_coding	OTTHUMT00000078560.2		0.00	86	0	G	NM_004118		30432392	-1	tier1		no_errors	ENST00000375978	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.998	-
GGN	199720	genome.wustl.edu	37	19	38876616	38876616	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:38876616G>T	ENST00000334928.6	-	3	1418	c.1286C>A	c.(1285-1287)cCg>cAg	p.P429Q	SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	429	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)		p.P429Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAGGCCCCGGGCGCATGGG	0.721																																																	1	Substitution - Missense(1)	lung(1)											7.0	9.0	9.0					19																	38876616		2167	4235	6402	SO:0001583	missense	0			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1286C>A	19.37:g.38876616G>T	ENSP00000334940:p.Pro429Gln		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	NULL	p.P429Q	ENST00000334928.6	37	c.1286	CCDS12516.1	19	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650879	0.29336	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.5	-0.0477	0.13842	.	0.196203	0.25192	N	0.032460	T	0.34106	0.0886	L	0.29908	0.895	0.09310	N	1	D;D	0.57571	0.98;0.98	P;P	0.57009	0.811;0.811	T	0.12889	-1.0530	9	0.72032	D	0.01	-1.7164	5.9789	0.19395	0.3761:0.0:0.6239:0.0	.	346;429	Q86UU5-2;Q86UU5	.;GGN_HUMAN	Q	429	.	ENSP00000334940:P429Q	P	-	2	0	GGN	43568456	0.042000	0.20092	0.049000	0.19019	0.155000	0.21991	1.842000	0.39250	0.183000	0.20059	0.462000	0.41574	CCG	GGN	-	NULL	ENSG00000179168		0.721	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGN	HGNC	protein_coding	OTTHUMT00000459205.1		0.00	16	0	G	NM_152657		38876616	-1			no_errors	ENST00000334928	ensembl	human	known	74_37	missense	18.18	9	2	SNP	0.003	T
GLB1L3	112937	genome.wustl.edu	37	11	134188557	134188557	+	Silent	SNP	A	A	G			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:134188557A>G	ENST00000431683.2	+	19	1812	c.1812A>G	c.(1810-1812)ggA>ggG	p.G604G		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	604					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCATCAATGGACGTAACCTTG	0.428																																																	0													138.0	124.0	128.0					11																	134188557		1913	4116	6029	SO:0001819	synonymous_variant	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1812A>G	11.37:g.134188557A>G			A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.G604	ENST00000431683.2	37	c.1812	CCDS44780.1	11																																																																																			GLB1L3	-	superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	ENSG00000166105		0.428	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	-	0.00	48	0	A	NM_138416		134188557	+1	tier1	-	no_errors	ENST00000431683	ensembl	human	known	74_37	silent	34.00	33	17	SNP	0.012	G
GOLGB1	2804	genome.wustl.edu	37	3	121400679	121400679	+	Silent	SNP	A	A	G			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:121400679A>G	ENST00000340645.5	-	15	8838	c.8713T>C	c.(8713-8715)Tta>Cta	p.L2905L	GOLGB1_ENST00000393667.3_Silent_p.L2910L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2905					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTAATCTGTAAGTATTGCTGC	0.358																																																	0													142.0	130.0	134.0					3																	121400679		2203	4300	6503	SO:0001819	synonymous_variant	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8713T>C	3.37:g.121400679A>G			B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.L2905	ENST00000340645.5	37	c.8713	CCDS3004.1	3																																																																																			GOLGB1	-	NULL	ENSG00000173230		0.358	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0.00	50	0	A	NM_004487		121400679	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	silent	40.00	33	22	SNP	1.000	G
GPR75-ASB3	100302652	genome.wustl.edu	37	2	53990717	53990717	+	Intron	SNP	C	C	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:53990717C>A	ENST00000263634.3	-	2	331				ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000482829.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000406687.1_Intron	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		attttgggaccaattccctgt	0.438																																																	0																																										SO:0001627	intron_variant	0				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.196+1796G>T	2.37:g.53990717C>A				RNA	SNP	-	NULL	ENST00000263634.3	37	NULL	CCDS1846.1	2																																																																																			GPR75-ASB3	-	-	ENSG00000115239		0.438	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR75-ASB3	HGNC	protein_coding	OTTHUMT00000251402.3	-	0.00	62	0	C			53990717	-1	tier1	-	no_errors	ENST00000414369	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.002	A
GPRIN2	9721	genome.wustl.edu	37	10	46999668	46999668	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr10:46999668C>T	ENST00000374317.1	+	3	1061	c.788C>T	c.(787-789)gCg>gTg	p.A263V	GPRIN2_ENST00000374314.4_Missense_Mutation_p.A263V	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	263										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AAACTAGTGGCGTCAGTGAGC	0.622																																																	0													94.0	101.0	98.0					10																	46999668		2203	4300	6503	SO:0001583	missense	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.788C>T	10.37:g.46999668C>T	ENSP00000363436:p.Ala263Val		Q5SVF0	Missense_Mutation	SNP	NULL	p.A263V	ENST00000374317.1	37	c.788	CCDS31192.1	10	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367932	0.42003	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03889	3.77;3.77	5.13	4.23	0.50019	.	0.000000	0.45867	D	0.000331	T	0.06508	0.0167	L	0.57536	1.79	0.37626	D	0.921502	B	0.31318	0.319	B	0.23852	0.049	T	0.15636	-1.0430	10	0.62326	D	0.03	-11.7799	11.7277	0.51718	0.0:0.9126:0.0:0.0874	.	263	O60269	GRIN2_HUMAN	V	263	ENSP00000363436:A263V;ENSP00000363433:A263V	ENSP00000363433:A263V	A	+	2	0	GPRIN2	46419674	1.000000	0.71417	0.849000	0.33467	0.228000	0.25075	6.476000	0.73587	1.313000	0.45069	0.436000	0.28706	GCG	GPRIN2	-	NULL	ENSG00000204175		0.622	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	-	0.00	33	0	C	NM_014696		46999668	+1	tier1	-	no_errors	ENST00000374314	ensembl	human	known	74_37	missense	30.00	14	6	SNP	0.993	T
GRHL2	79977	genome.wustl.edu	37	8	102555638	102555638	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr8:102555638C>T	ENST00000251808.3	+	2	528	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F	GRHL2_ENST00000395927.1_Missense_Mutation_p.L48F	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	64	Transcription activation.				brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGCTGCTGCCCTCGGCCTGCT	0.532																																																	0													103.0	101.0	102.0					8																	102555638		2203	4300	6503	SO:0001583	missense	0			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.190C>T	8.37:g.102555638C>T	ENSP00000251808:p.Leu64Phe		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.L64F	ENST00000251808.3	37	c.190	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595980	0.86953	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.61040	0.14;0.14	5.85	4.96	0.65561	.	0.060323	0.64402	D	0.000002	T	0.73377	0.3579	M	0.81802	2.56	0.58432	D	0.999992	D;D;D	0.63880	0.986;0.993;0.993	P;D;D	0.66716	0.741;0.946;0.946	T	0.75935	-0.3142	10	0.72032	D	0.01	-17.0562	10.1618	0.42855	0.1338:0.7968:0.0:0.0694	.	64;64;64	B4DL28;Q6ISB3;A8K9Y8	.;GRHL2_HUMAN;.	F	64;48;64	ENSP00000251808:L64F;ENSP00000379260:L48F	ENSP00000251808:L64F	L	+	1	0	GRHL2	102624814	0.998000	0.40836	0.962000	0.40283	0.952000	0.60782	3.750000	0.55157	2.755000	0.94549	0.655000	0.94253	CTC	GRHL2	-	NULL	ENSG00000083307		0.532	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	-	0.00	43	0	C	NM_024915		102555638	+1	tier1	-	no_errors	ENST00000251808	ensembl	human	known	74_37	missense	58.82	21	30	SNP	1.000	T
GTPBP10	85865	genome.wustl.edu	37	7	89984453	89984453	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:89984453G>A	ENST00000222511.6	+	4	439	c.373G>A	c.(373-375)Ggt>Agt	p.G125S	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	125					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGGTCTTGGTGGTAAATTACT	0.343																																																	0													102.0	108.0	106.0					7																	89984453		2203	4299	6502	SO:0001583	missense	0				CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.373G>A	7.37:g.89984453G>A	ENSP00000222511:p.Gly125Ser		B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain	p.G125S	ENST00000222511.6	37	c.373	CCDS5617.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.271204	0.95429	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000222511	T;T;T	0.61980	0.06;0.06;0.06	5.93	5.05	0.67936	GTP1/OBG subdomain (3);	0.000000	0.85682	D	0.000000	D	0.84279	0.5437	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.998	P;D;D	0.75484	0.855;0.979;0.986	D	0.88163	0.2859	9	.	.	.	-7.6496	15.5314	0.75964	0.0672:0.0:0.9328:0.0	.	125;116;142	A4D1E9;C9J8R7;C9JNI1	GTPBA_HUMAN;.;.	S	116;142;125	ENSP00000405697:G116S;ENSP00000389510:G142S;ENSP00000222511:G125S	.	G	+	1	0	GTPBP10	89822389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.982000	0.76173	2.798000	0.96311	0.655000	0.94253	GGT	GTPBP10	-	pfam_GTP1_OBG_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA	ENSG00000105793		0.343	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP10	HGNC	protein_coding	OTTHUMT00000059976.3		0.00	76	0	G	NM_033107		89984453	+1			no_errors	ENST00000222511	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A
HMGXB4	10042	genome.wustl.edu	37	22	35661543	35661544	+	Frame_Shift_Ins	INS	-	-	A	rs76572304		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr22:35661543_35661544insA	ENST00000216106.5	+	5	1290_1291	c.1162_1163insA	c.(1162-1164)gaafs	p.E388fs	HMGXB4_ENST00000444518.2_Frame_Shift_Ins_p.E279fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	388					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGCATAGTGAaaaaaaaaag	0.49																																																	0																																										SO:0001589	frameshift_variant	0			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1172dupA	22.37:g.35661553_35661553dupA	ENSP00000216106:p.Glu388fs		O75672|O75673|Q9UMT5	Frame_Shift_Ins	INS	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.K392fs	ENST00000216106.5	37	c.1162_1163	CCDS33641.1	22																																																																																			HMGXB4	-	superfamily_HMG_box_dom	ENSG00000100281		0.490	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2		0.00	11	0	-	NM_005487		35661544	+1	tier1		no_errors	ENST00000216106	ensembl	human	known	74_37	frame_shift_ins	18.75	13	3	INS	1.000:1.000	A
HS3ST1	9957	genome.wustl.edu	37	4	11400816	11400816	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:11400816G>A	ENST00000002596.5	-	2	1988	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	272					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGGTGCGCCCGGCCTTTGGAC	0.493																																																	0													55.0	59.0	58.0					4																	11400816		2203	4300	6503	SO:0001583	missense	0			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.814C>T	4.37:g.11400816G>A	ENSP00000002596:p.Arg272Trp		B3KUA6|Q6PEY8	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R272W	ENST00000002596.5	37	c.814	CCDS3408.1	4	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132652	0.56828	.	.	ENSG00000002587	ENST00000002596	T	0.58652	0.32	5.59	4.67	0.58626	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000001	D	0.82848	0.5126	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87916	0.2700	10	0.87932	D	0	.	14.6106	0.68514	0.0:0.0:0.7713:0.2287	.	272	O14792	HS3S1_HUMAN	W	272	ENSP00000002596:R272W	ENSP00000002596:R272W	R	-	1	2	HS3ST1	11009914	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	2.134000	0.42102	2.628000	0.89032	0.655000	0.94253	CGG	HS3ST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000002587		0.493	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	HGNC	protein_coding	OTTHUMT00000207073.3	-	0.00	47	0	G	NM_005114		11400816	-1	tier1	-	no_errors	ENST00000002596	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	A
HTR1E	3354	genome.wustl.edu	37	6	87725923	87725923	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:87725923C>T	ENST00000305344.5	+	2	1574	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	291					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R291C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GAAGGCAGCACGCATCCTGGG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											172.0	160.0	164.0					6																	87725923		2203	4300	6503	SO:0001583	missense	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.871C>T	6.37:g.87725923C>T	ENSP00000307766:p.Arg291Cys		E1P503|Q9P1Y1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.R291C	ENST00000305344.5	37	c.871	CCDS5006.1	6	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413221	0.25465	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.40476	1.03;1.03	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000022	T	0.57286	0.2043	M	0.74546	2.27	0.47276	D	0.999375	D	0.89917	1.0	D	0.69479	0.964	T	0.65372	-0.6184	10	0.87932	D	0	.	17.0403	0.86487	0.0:1.0:0.0:0.0	.	291	P28566	5HT1E_HUMAN	C	291	ENSP00000307766:R291C;ENSP00000358597:R291C	ENSP00000307766:R291C	R	+	1	0	HTR1E	87782642	0.989000	0.36119	0.988000	0.46212	0.164000	0.22412	2.763000	0.47605	2.041000	0.60428	0.205000	0.17691	CGC	HTR1E	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000168830		0.517	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2	-	0.00	72	0	C	NM_000865		87725923	+1	tier1	-	no_errors	ENST00000305344	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.569	T
HYAL2	8692	genome.wustl.edu	37	3	50357378	50357378	+	Silent	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:50357378G>A	ENST00000447092.1	-	1	2835	c.543C>T	c.(541-543)ttC>ttT	p.F181F	HYAL2_ENST00000395139.3_Silent_p.F181F|TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000442581.1_Silent_p.F181F|HYAL2_ENST00000357750.4_Silent_p.F181F			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	181					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGTGCTGCGAACTCAAACT	0.547																																																	0													107.0	104.0	105.0					3																	50357378		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.543C>T	3.37:g.50357378G>A			B3KRZ2|O15177|Q9BW29	Silent	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.F181	ENST00000447092.1	37	c.543	CCDS2818.1	3																																																																																			HYAL2	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase	ENSG00000068001		0.547	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL2	HGNC	protein_coding	OTTHUMT00000346391.1		0.00	27	0	G	NM_003773		50357378	-1			no_errors	ENST00000357750	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.000	A
IFNLR1	163702	genome.wustl.edu	37	1	24488008	24488008	+	Intron	DEL	G	G	-	rs148264003	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:24488008delG	ENST00000327535.1	-	4	523				IFNLR1_ENST00000327575.2_Intron|IFNLR1_ENST00000374418.3_Frame_Shift_Del_p.P178fs|IFNLR1_ENST00000374421.3_Intron|IFNLR1_ENST00000374419.1_Intron	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1						cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											GGCCTAGCCTGGGGGCAGGAA	0.617																																																	0													17.0	18.0	18.0					1																	24488008		2141	4215	6356	SO:0001627	intron_variant	0			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.510+23C>-	1.37:g.24488008delG			Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Frame_Shift_Del	DEL	superfamily_Fibronectin_type3	p.R179fs	ENST00000327535.1	37	c.534	CCDS248.1	1																																																																																			IFNLR1	-	NULL	ENSG00000185436		0.617	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFNLR1	HGNC	protein_coding	OTTHUMT00000008402.1		0.00	49	0	G	NM_170743		24488008	-1	tier1		no_errors	ENST00000374418	ensembl	human	known	74_37	frame_shift_del	11.11	24	3	DEL	0.000	-
IMMP2L	83943	genome.wustl.edu	37	7	111161482	111161482	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:111161482C>A	ENST00000405709.2	-	2	464	c.22G>T	c.(22-24)Gtg>Ttg	p.V8L	IMMP2L_ENST00000331762.3_Missense_Mutation_p.V8L|IMMP2L_ENST00000452895.1_Missense_Mutation_p.V8L|IMMP2L_ENST00000437687.1_Missense_Mutation_p.V8L|IMMP2L_ENST00000447215.1_Missense_Mutation_p.V8L|IMMP2L_ENST00000415362.1_Missense_Mutation_p.V8L	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	8					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TATCTTTTCACCCACCCTTGT	0.418																																																	0													103.0	98.0	100.0					7																	111161482		2203	4300	6503	SO:0001583	missense	0			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.22G>T	7.37:g.111161482C>A	ENSP00000384966:p.Val8Leu		Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Missense_Mutation	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.V8L	ENST00000405709.2	37	c.22	CCDS5753.1	7	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324672	0.41197	.	.	ENSG00000184903	ENST00000405709;ENST00000331762;ENST00000452895;ENST00000415362;ENST00000447215;ENST00000437687;ENST00000452753	.	.	.	5.97	3.17	0.36434	.	0.379952	0.28871	N	0.013875	T	0.23014	0.0556	N	0.22421	0.69	0.22620	N	0.998928	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25882	-1.0119	9	0.08381	T	0.77	-8.2613	7.7755	0.29035	0.1252:0.6893:0.1204:0.0651	.	8;8	Q96T52-2;Q96T52	.;IMP2L_HUMAN	L	8	.	ENSP00000329553:V8L	V	-	1	0	IMMP2L	110948718	0.911000	0.30947	0.716000	0.30569	0.953000	0.61014	1.418000	0.34782	0.407000	0.25591	-1.057000	0.02308	GTG	IMMP2L	-	NULL	ENSG00000184903		0.418	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP2L	HGNC	protein_coding	OTTHUMT00000338109.4	-	0.00	35	0	C	NM_032549		111161482	-1	tier1	-	no_errors	ENST00000331762	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.988	A
INTS7	25896	genome.wustl.edu	37	1	212148519	212148519	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:212148519C>T	ENST00000366994.3	-	13	1908	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	INTS7_ENST00000366992.3_Missense_Mutation_p.A602T|INTS7_ENST00000440600.2_Missense_Mutation_p.A553T|INTS7_ENST00000366993.3_Missense_Mutation_p.A602T|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	602					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTTAAGGAAGCAATCCCTTTG	0.373																																																	0													67.0	64.0	65.0					1																	212148519		2203	4300	6503	SO:0001583	missense	0			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1804G>A	1.37:g.212148519C>T	ENSP00000355961:p.Ala602Thr		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A553T	ENST00000366994.3	37	c.1657	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554493	0.86231	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.49720	0.82;0.77;0.78;0.79	6.06	5.13	0.70059	.	0.091353	0.85682	D	0.000000	T	0.49626	0.1568	L	0.47190	1.495	0.80722	D	1	B;B;B;B	0.32245	0.361;0.361;0.361;0.361	B;B;B;B	0.39904	0.313;0.313;0.214;0.214	T	0.49143	-0.8970	10	0.46703	T	0.11	-16.9748	16.6356	0.85058	0.1311:0.8689:0.0:0.0	.	553;602;602;602	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	T	602;602;602;553	ENSP00000355961:A602T;ENSP00000355960:A602T;ENSP00000355959:A602T;ENSP00000388908:A553T	ENSP00000355959:A602T	A	-	1	0	INTS7	210215142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.538000	0.82048	1.539000	0.49286	0.655000	0.94253	GCT	INTS7	-	NULL	ENSG00000143493		0.373	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1		0.00	20	0	C	NM_015434		212148519	-1			no_errors	ENST00000440600	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
ITGAL	3683	genome.wustl.edu	37	16	30484186	30484186	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr16:30484186G>A	ENST00000356798.6	+	1	208	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	ITGAL_ENST00000433423.2_Missense_Mutation_p.A10T|ITGAL_ENST00000454514.2_Missense_Mutation_p.A10T|ITGAL_ENST00000358164.5_Missense_Mutation_p.A10T|Y_RNA_ENST00000410769.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	10					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CACTGTGATGGCCATGGCGCT	0.597																																					NSCLC(110;1462 1641 3311 33990 49495)												0													142.0	112.0	122.0					16																	30484186		2197	4300	6497	SO:0001583	missense	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.28G>A	16.37:g.30484186G>A	ENSP00000349252:p.Ala10Thr		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.A10T	ENST00000356798.6	37	c.28	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574639	0.28092	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000454514;ENST00000433423	D;T;D;T	0.92647	-3.08;0.74;-3.08;1.91	4.75	-0.304	0.12788	.	2.017590	0.02464	N	0.086812	T	0.81418	0.4818	N	0.05230	-0.09	0.09310	N	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.08055	0.001;0.001;0.003	T	0.70189	-0.4940	10	0.27082	T	0.32	.	4.4351	0.11547	0.4932:0.3271:0.1797:0.0	.	10;10;10	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	T	10	ENSP00000349252:A10T;ENSP00000350886:A10T;ENSP00000408615:A10T;ENSP00000409377:A10T	ENSP00000349252:A10T	A	+	1	0	ITGAL	30391687	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.251000	0.18257	-0.165000	0.10908	-2.663000	0.00146	GCC	ITGAL	-	NULL	ENSG00000005844		0.597	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	-	0.00	49	0	G			30484186	+1	tier1	-	no_errors	ENST00000356798	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.000	A
ITPA	3704	genome.wustl.edu	37	20	3194687	3194687	+	Silent	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr20:3194687G>A	ENST00000380113.3	+	4	438	c.246G>A	c.(244-246)ggG>ggA	p.G82G	ITPA_ENST00000455664.2_Silent_p.G65G|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Silent_p.G41G	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						CCCTTGGAGGGCTCCCCGGCC	0.562																																																	0													141.0	111.0	121.0					20																	3194687		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.246G>A	20.37:g.3194687G>A				Silent	SNP	pfam_Ham1p-like,tigrfam_Ham1p-like	p.G82	ENST00000380113.3	37	c.246	CCDS13051.1	20																																																																																			ITPA	-	pfam_Ham1p-like,tigrfam_Ham1p-like	ENSG00000125877		0.562	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPA	HGNC	protein_coding	OTTHUMT00000077719.2	-	0.00	82	0	G			3194687	+1	tier1	-	no_errors	ENST00000380113	ensembl	human	known	74_37	silent	56.45	26	35	SNP	0.694	A
JAKMIP3	282973	genome.wustl.edu	37	10	133978235	133978235	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr10:133978235delA	ENST00000298622.4	+	20	2618	c.2480delA	c.(2479-2481)gaafs	p.E827fs	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	827						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAACTGGAGGAAAAGGTAAAA	0.438																																																	0													91.0	100.0	97.0					10																	133978235		2202	4298	6500	SO:0001589	frameshift_variant	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2480delA	10.37:g.133978235delA	ENSP00000298622:p.Glu827fs		A6PW00|Q69YM6|Q6ZT29	Frame_Shift_Del	DEL	NULL	p.K828fs	ENST00000298622.4	37	c.2480	CCDS44494.1	10																																																																																			JAKMIP3	-	NULL	ENSG00000188385		0.438	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3		0.00	22	0	A	NM_194303		133978235	+1	tier1		no_errors	ENST00000298622	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	1.000	-
KBTBD7	84078	genome.wustl.edu	37	13	41767331	41767331	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr13:41767331G>A	ENST00000379483.3	-	1	1371	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	355										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CAGAGAAAGGGATCTCTAGGA	0.498																																																	0													93.0	66.0	75.0					13																	41767331		2203	4300	6503	SO:0001583	missense	0			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1063C>T	13.37:g.41767331G>A	ENSP00000368797:p.Pro355Ser		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P355S	ENST00000379483.3	37	c.1063	CCDS9377.1	13	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195127	0.38806	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.66460	-0.21	4.9	4.9	0.64082	Kelch-type beta propeller (1);	0.143194	0.47455	U	0.000228	T	0.56906	0.2017	N	0.25890	0.77	0.43039	D	0.994626	D	0.53151	0.958	P	0.49252	0.604	T	0.56679	-0.7939	10	0.02654	T	1	.	15.5897	0.76517	0.0:0.0:1.0:0.0	.	355	Q8WVZ9	KBTB7_HUMAN	S	355;257	ENSP00000368797:P355S	ENSP00000368797:P355S	P	-	1	0	KBTBD7	40665331	1.000000	0.71417	0.998000	0.56505	0.856000	0.48823	5.998000	0.70653	2.246000	0.74042	0.557000	0.71058	CCC	KBTBD7	-	pirsf_Kelch-like_gigaxonin	ENSG00000120696		0.498	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1	-	0.00	54	0	G	NM_032138		41767331	-1	tier1	-	no_errors	ENST00000379483	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	A
KDM6A	7403	genome.wustl.edu	37	X	44941834	44941834	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chrX:44941834A>T	ENST00000377967.4	+	21	3199	c.3158A>T	c.(3157-3159)aAa>aTa	p.K1053I	KDM6A_ENST00000543216.1_Missense_Mutation_p.K974I|KDM6A_ENST00000536777.1_Missense_Mutation_p.K1008I|KDM6A_ENST00000382899.4_Missense_Mutation_p.K1060I	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1053	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAAATGAAAAAAGAAGTCAT	0.313			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											89.0	83.0	85.0					X																	44941834		2203	4300	6503	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3158A>T	X.37:g.44941834A>T	ENSP00000367203:p.Lys1053Ile		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K1060I	ENST00000377967.4	37	c.3179	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.5|20.5	4.002740|4.002740	0.74932|0.74932	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.80393|.	-1.37;-1.37;-1.37;-1.37|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.72550|0.72550	0.3474|0.3474	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	P;P;D;P;P|.	0.61080|.	0.952;0.729;0.989;0.836;0.929|.	P;P;D;B;P|.	0.64237|.	0.601;0.495;0.923;0.418;0.824|.	T|T	0.72969|0.72969	-0.4130|-0.4130	10|6	0.87932|.	D|.	0|.	-4.8223|-4.8223	13.7286|13.7286	0.62774|0.62774	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	692;1060;1008;1105;1053|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550|.	.;.;.;.;KDM6A_HUMAN|.	I|N	750;1053;1008;1060;974|650;695	ENSP00000367203:K1053I;ENSP00000437405:K1008I;ENSP00000372355:K1060I;ENSP00000443078:K974I|.	ENSP00000334340:K750I|.	K|K	+|+	2|3	0|2	KDM6A|KDM6A	44826778|44826778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	7.983000|7.983000	0.88140|0.88140	1.838000|1.838000	0.53458|0.53458	0.437000|0.437000	0.28790|0.28790	AAA|AAA	KDM6A	-	NULL	ENSG00000147050		0.313	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	-	0.00	60	0	A	NM_021140		44941834	+1	tier1	-	no_errors	ENST00000382899	ensembl	human	known	74_37	missense	80.00	8	32	SNP	1.000	T
KIAA0196	9897	genome.wustl.edu	37	8	126061249	126061249	+	Splice_Site	SNP	T	T	C			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr8:126061249T>C	ENST00000318410.7	-	19	2727	c.2378A>G	c.(2377-2379)aAg>aGg	p.K793R	KIAA0196_ENST00000517845.1_Splice_Site_p.K645R	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	793					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATTAGATACCTTCGTTCTTAG	0.318																																																	0													63.0	58.0	59.0					8																	126061249		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2379+1A>G	8.37:g.126061249T>C			A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.K793R	ENST00000318410.7	37	c.2378	CCDS6355.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.00|19.00	3.742272|3.742272	0.69418|0.69418	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.88896|.	-2.44;-2.44|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78685|0.78685	0.4322|0.4322	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	D;D|.	0.57571|.	0.98;0.979|.	P;D|.	0.74023|.	0.777;0.982|.	T|T	0.80663|0.80663	-0.1282|-0.1282	10|5	0.36615|.	T|.	0.2|.	-27.0624|-27.0624	16.2119|16.2119	0.82168|0.82168	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	645;793|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	R|G	793;645|410	ENSP00000318016:K793R;ENSP00000429676:K645R|.	ENSP00000318016:K793R|.	K|R	-|-	2|1	0|2	KIAA0196|KIAA0196	126130431|126130431	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.174000|0.174000	0.22865|0.22865	7.933000|7.933000	0.87642|0.87642	2.288000|2.288000	0.76882|0.76882	0.482000|0.482000	0.46254|0.46254	AAG|AGA	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.318	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	-	0.00	48	0	T	NM_014846	Missense_Mutation	126061249	-1	tier1	-	no_errors	ENST00000318410	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	C
KITLG	4254	genome.wustl.edu	37	12	88910245	88910245	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr12:88910245C>T	ENST00000228280.5	-	5	568	c.386G>A	c.(385-387)aGc>aAc	p.S129N	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000347404.5_Missense_Mutation_p.S129N	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	129					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GGGTTCTGGGCTCTTGAATGA	0.333									Testicular Cancer, Familial Clustering of																																								0													34.0	38.0	36.0					12																	88910245		2197	4290	6487	SO:0001583	missense	0	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.386G>A	12.37:g.88910245C>T	ENSP00000228280:p.Ser129Asn		A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF	p.S129N	ENST00000228280.5	37	c.386	CCDS31868.1	12	.	.	.	.	.	.	.	.	.	.	C	9.759	1.169478	0.21621	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.63255	-0.03;-0.03	4.43	2.34	0.29019	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.457889	0.24298	N	0.039754	T	0.44307	0.1287	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19224	-1.0312	10	0.16420	T	0.52	-0.0363	4.6059	0.12378	0.0:0.406:0.0:0.594	.	129;129	P21583-2;P21583	.;SCF_HUMAN	N	94;129;129	ENSP00000228280:S129N;ENSP00000054216:S129N	ENSP00000228280:S129N	S	-	2	0	KITLG	87434376	0.997000	0.39634	0.011000	0.14972	0.382000	0.30200	1.406000	0.34646	0.367000	0.24454	0.591000	0.81541	AGC	KITLG	-	pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF	ENSG00000049130		0.333	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KITLG	HGNC	protein_coding	OTTHUMT00000406424.2	-	0.00	80	0	C	NM_003994		88910245	-1	tier1	-	no_errors	ENST00000228280	ensembl	human	known	74_37	missense	33.85	43	22	SNP	0.011	T
KLHL3	26249	genome.wustl.edu	37	5	136957467	136957468	+	3'UTR	DEL	AC	AC	-	rs397798173|rs3839339|rs3044778		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:136957467_136957468delAC	ENST00000309755.4	-	0	2526_2527				KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000506491.1_3'UTR|KLHL3_ENST00000508657.1_3'UTR	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3						distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ACCATGGTCTacacacacacac	0.475																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.*320GT>-	5.37:g.136957477_136957478delAC			B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	RNA	DEL	-	NULL	ENST00000309755.4	37	NULL	CCDS4192.1	5																																																																																			KLHL3	-	-	ENSG00000146021		0.475	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL3	HGNC	protein_coding	OTTHUMT00000251220.2		0.00	19	0	AC			136957468	-1	tier1		no_errors	ENST00000506873	ensembl	human	known	74_37	rna	26.32	14	5	DEL	0.424:0.441	-
KLHL8	57563	genome.wustl.edu	37	4	88097982	88097982	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:88097982G>A	ENST00000273963.5	-	6	1476	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	KLHL8_ENST00000498875.2_Missense_Mutation_p.H303Y|KLHL8_ENST00000425278.2_Missense_Mutation_p.H196Y|KLHL8_ENST00000545252.1_Missense_Mutation_p.H28Y|KLHL8_ENST00000512111.1_Missense_Mutation_p.H379Y	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	379					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CTCCCTAAATGTTCATTTCCA	0.333																																																	0													226.0	201.0	209.0					4																	88097982		2203	4300	6503	SO:0001583	missense	0			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1135C>T	4.37:g.88097982G>A	ENSP00000273963:p.His379Tyr		Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.H379Y	ENST00000273963.5	37	c.1135	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156685	0.57259	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.18	5.18	0.71444	Galactose oxidase, beta-propeller (1);	0.092954	0.85682	D	0.000000	T	0.77343	0.4116	N	0.16266	0.395	0.80722	D	1	D;D;D	0.89917	0.967;1.0;1.0	P;D;D	0.83275	0.878;0.993;0.996	T	0.70357	-0.4894	10	0.02654	T	1	.	18.6914	0.91585	0.0:0.0:1.0:0.0	.	196;303;379	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	Y	379;303;196;28;379	ENSP00000273963:H379Y;ENSP00000426451:H303Y;ENSP00000408854:H196Y;ENSP00000439514:H28Y;ENSP00000424131:H379Y	ENSP00000273963:H379Y	H	-	1	0	KLHL8	88317006	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	9.659000	0.98597	2.398000	0.81561	0.650000	0.86243	CAT	KLHL8	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000145332		0.333	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1		0.00	44	0	G			88097982	-1			no_errors	ENST00000273963	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A
KLK2	3817	genome.wustl.edu	37	19	51379818	51379818	+	Silent	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:51379818G>A	ENST00000325321.3	+	3	522	c.297G>A	c.(295-297)ccG>ccA	p.P99P	KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Silent_p.P99P|AC037199.1_ENST00000594218.1_5'Flank			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	99	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TCCCACACCCGCTCTACAATA	0.567			T	ETV4	prostate																																			Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													64.0	56.0	59.0					19																	51379818		2203	4300	6503	SO:0001819	synonymous_variant	0			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.297G>A	19.37:g.51379818G>A			B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	NULL	p.R46H	ENST00000325321.3	37	c.137	CCDS12808.1	19																																																																																			KLK2	-	NULL	ENSG00000167751		0.567	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3	-	0.00	21	0	G	NM_005551.3		51379818	+1	tier1	-	no_errors	ENST00000595316	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.002	A
KMT2D	8085	genome.wustl.edu	37	12	49433518	49433518	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr12:49433518T>A	ENST00000301067.7	-	31	8034	c.8035A>T	c.(8035-8037)Aag>Tag	p.K2679*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2679					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGCCGTTGCTTCTCCAGCTCT	0.557																																																	0													34.0	38.0	37.0					12																	49433518		2007	4162	6169	SO:0001587	stop_gained	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8035A>T	12.37:g.49433518T>A	ENSP00000301067:p.Lys2679*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K2679*	ENST00000301067.7	37	c.8035	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	T	49	15.187459	0.99825	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.6	5.6	0.85130	.	0.000000	0.40385	N	0.001116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0808	0.72113	0.0:0.0:0.0:1.0	.	.	.	.	X	2679	.	ENSP00000301067:K2679X	K	-	1	0	MLL2	47719785	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.137000	0.77295	2.263000	0.75096	0.533000	0.62120	AAG	KMT2D	-	NULL	ENSG00000167548		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0.00	30	0	T			49433518	-1			no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense	15.00	17	3	SNP	1.000	A
LDLRAP1	26119	genome.wustl.edu	37	1	25881428	25881428	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:25881428delC	ENST00000374338.4	+	3	428	c.309delC	c.(307-309)ctcfs	p.L103fs	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	103	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACAACCTCACCAACCAGC	0.557																																																	0													114.0	100.0	104.0					1																	25881428		2203	4300	6503	SO:0001589	frameshift_variant	0			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.309delC	1.37:g.25881428delC	ENSP00000363458:p.Leu103fs		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Frame_Shift_Del	DEL	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.T104fs	ENST00000374338.4	37	c.309	CCDS30639.1	1																																																																																			LDLRAP1	-	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000157978		0.557	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	HGNC	protein_coding	OTTHUMT00000019350.3		0.00	35	0	C	NM_015627		25881428	+1	tier1		no_errors	ENST00000374338	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	0.996	-
MTMR9	66036	genome.wustl.edu	37	8	11177526	11177526	+	Intron	DEL	T	T	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr8:11177526delT	ENST00000221086.3	+	9	1959				AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Intron	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9							cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTAGCCACACTTTTTTTTTTT	0.363																																																	0																																										SO:0001627	intron_variant	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1486+179T>-	8.37:g.11177526delT			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	RNA	DEL	-	NULL	ENST00000221086.3	37	NULL	CCDS5979.1	8																																																																																			AF131216.6	-	-	ENSG00000246477		0.363	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929290	Clone_based_vega_gene	protein_coding	OTTHUMT00000207307.2		0.00	15	0	T	NM_015458		11177526	-1	tier1		no_errors	ENST00000498997	ensembl	human	known	74_37	rna	30.77	9	4	DEL	0.005	-
LRP8	7804	genome.wustl.edu	37	1	53715213	53715214	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:53715213_53715214insAA	ENST00000306052.6	-	18	2792_2793	c.2691_2692insTT	c.(2689-2694)tttgatfs	p.D898fs	LRP8_ENST00000354412.3_Intron|LRP8_ENST00000465675.1_Intron|LRP8_ENST00000371454.2_Intron|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.D728fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	898					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						agtgggcgatcaAAGCTGCTGA	0.594																																																	0																																										SO:0001589	frameshift_variant	0			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2690_2691dupTT	1.37:g.53715214_53715215dupAA	ENSP00000303634:p.Asp898fs		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D897fs	ENST00000306052.6	37	c.2692_2691	CCDS578.1	1																																																																																			LRP8	-	NULL	ENSG00000157193		0.594	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	HGNC	protein_coding	OTTHUMT00000024699.1		0.00	31	0	-	NM_004631		53715214	-1	tier1		no_errors	ENST00000306052	ensembl	human	known	74_37	frame_shift_ins	28.57	25	10	INS	1.000:1.000	AA
LRRC66	339977	genome.wustl.edu	37	4	52862198	52862198	+	Silent	SNP	C	C	T	rs377070528		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:52862198C>T	ENST00000343457.3	-	4	996	c.990G>A	c.(988-990)acG>acA	p.T330T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	330						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TAGAAATGCCCGTGTGCCTTC	0.572																																																	0													35.0	35.0	35.0					4																	52862198		1875	4106	5981	SO:0001819	synonymous_variant	0			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.990G>A	4.37:g.52862198C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T330	ENST00000343457.3	37	c.990	CCDS43229.1	4																																																																																			LRRC66	-	NULL	ENSG00000188993		0.572	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1		0.00	15	0	C	NM_001024611		52862198	-1			no_errors	ENST00000343457	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.000	T
MAP3K2	10746	genome.wustl.edu	37	2	128075818	128075818	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:128075818T>A	ENST00000409947.1	-	13	1403	c.1121A>T	c.(1120-1122)tAt>tTt	p.Y374F	MAP3K2_ENST00000344908.5_Missense_Mutation_p.Y374F|RNU6-1147P_ENST00000363380.1_RNA			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	ATCAACATCATAACAGAGGTA	0.443																																																	0													93.0	91.0	92.0					2																	128075818		1863	4093	5956	SO:0001583	missense	0			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1121A>T	2.37:g.128075818T>A	ENSP00000387246:p.Tyr374Phe		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y374F	ENST00000409947.1	37	c.1121	CCDS46404.1	2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113504	0.77210	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.24151	1.87;1.87	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.113313	0.64402	D	0.000007	T	0.18383	0.0441	N	0.19112	0.55	0.58432	D	0.999998	B	0.13594	0.008	B	0.22601	0.04	T	0.07829	-1.0752	10	0.15499	T	0.54	.	15.7399	0.77887	0.0:0.0:0.0:1.0	.	374	Q9Y2U5	M3K2_HUMAN	F	374	ENSP00000387246:Y374F;ENSP00000343463:Y374F	ENSP00000343463:Y374F	Y	-	2	0	MAP3K2	127792288	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.953000	0.87836	2.112000	0.64535	0.477000	0.44152	TAT	MAP3K2	-	pfam_Prot_kinase_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_dom	ENSG00000169967		0.443	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K2	HGNC	protein_coding	OTTHUMT00000331014.1	-	0.00	57	0	T	NM_006609		128075818	-1	tier1	-	no_errors	ENST00000344908	ensembl	human	known	74_37	missense	42.11	22	16	SNP	1.000	A
MAP3K4	4216	genome.wustl.edu	37	6	161508782	161508782	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:161508782G>T	ENST00000392142.4	+	10	2767	c.2619G>T	c.(2617-2619)aaG>aaT	p.K873N	MAP3K4_ENST00000366920.2_Missense_Mutation_p.K873N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K873N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K873N	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	873					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CTGAGGAGAAGAGTATTATTT	0.413																																																	0													112.0	110.0	110.0					6																	161508782		2203	4300	6503	SO:0001583	missense	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2619G>T	6.37:g.161508782G>T	ENSP00000375986:p.Lys873Asn		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	pfam_Prot_kinase_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_dom	p.K873N	ENST00000392142.4	37	c.2619	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	17.67	3.445816	0.63178	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71461	-0.57;-0.56;-0.56;-0.57	5.73	3.59	0.41128	.	0.069299	0.64402	D	0.000017	T	0.55800	0.1943	L	0.44542	1.39	0.23043	N	0.998384	P;D;D	0.55800	0.893;0.968;0.973	P;P;P	0.51615	0.645;0.675;0.499	T	0.47661	-0.9100	10	0.37606	T	0.19	-47.0903	10.357	0.43969	0.2384:0.0:0.7616:0.0	.	873;873;873	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	N	873	ENSP00000355886:K873N;ENSP00000375986:K873N;ENSP00000355887:K873N;ENSP00000297332:K873N	ENSP00000297332:K873N	K	+	3	2	MAP3K4	161428772	0.970000	0.33590	0.283000	0.24790	0.950000	0.60333	1.761000	0.38440	1.567000	0.49668	-0.136000	0.14681	AAG	MAP3K4	-	NULL	ENSG00000085511		0.413	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	-	0.00	37	0	G			161508782	+1	tier1	-	no_errors	ENST00000392142	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.008	T
MAP4	4134	genome.wustl.edu	37	3	47963311	47963311	+	Missense_Mutation	SNP	G	G	A	rs531177526		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:47963311G>A	ENST00000360240.6	-	5	991	c.473C>T	c.(472-474)gCg>gTg	p.A158V	MAP4_ENST00000426837.2_Missense_Mutation_p.A175V|MAP4_ENST00000383737.4_Missense_Mutation_p.A158V|MAP4_ENST00000395734.3_Missense_Mutation_p.A158V	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	158					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	ATCAGCTGTCGCACTGGAGGG	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		17425	0.0		0.0	False		,,,				2504	0.001																0													132.0	121.0	125.0					3																	47963311		2203	4300	6503	SO:0001583	missense	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.473C>T	3.37:g.47963311G>A	ENSP00000353375:p.Ala158Val		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_MAP_tubulin-bd_rpt	p.A158V	ENST00000360240.6	37	c.473	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	G	8.295	0.818555	0.16607	.	.	ENSG00000047849	ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.48	1.68	0.24146	.	.	.	.	.	T	0.13756	0.0333	N	0.08118	0	0.09310	N	0.999999	P;P;P	0.45827	0.867;0.832;0.785	B;B;B	0.39027	0.197;0.288;0.212	T	0.10660	-1.0620	9	0.87932	D	0	-2.0497	4.6371	0.12530	0.0:0.6106:0.1862:0.2032	.	135;158;158	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	V	158;158;175;158	ENSP00000373243:A158V;ENSP00000379083:A158V;ENSP00000407602:A175V;ENSP00000353375:A158V	ENSP00000353375:A158V	A	-	2	0	MAP4	47938315	0.053000	0.20554	0.046000	0.18839	0.000000	0.00434	0.107000	0.15375	0.239000	0.21243	-0.839000	0.03059	GCG	MAP4	-	NULL	ENSG00000047849		0.398	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1		0.00	37	0	G	NM_002375		47963311	-1			no_errors	ENST00000360240	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.012	A
MCHR1	2847	genome.wustl.edu	37	22	41077184	41077184	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr22:41077184G>A	ENST00000249016.4	+	2	1217	c.521G>A	c.(520-522)gGc>gAc	p.G174D	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	174					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CAGCTCATGGGCAATGGGGTG	0.557																																																	0													168.0	156.0	160.0					22																	41077184		2203	4300	6503	SO:0001583	missense	0				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.521G>A	22.37:g.41077184G>A	ENSP00000249016:p.Gly174Asp		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn	p.G174D	ENST00000249016.4	37	c.521	CCDS14004.1	22	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946885	0.73672	.	.	ENSG00000128285	ENST00000249016	T	0.72051	-0.62	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83594	0.5288	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84613	0.0679	10	0.59425	D	0.04	.	17.7257	0.88364	0.0:0.0:1.0:0.0	.	174	Q99705	MCHR1_HUMAN	D	174	ENSP00000249016:G174D	ENSP00000249016:G174D	G	+	2	0	MCHR1	39407130	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.958000	0.87877	2.601000	0.87937	0.563000	0.77884	GGC	MCHR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt	ENSG00000128285		0.557	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR1	HGNC	protein_coding	OTTHUMT00000317142.1	-	0.00	48	0	G	NM_005297		41077184	+1	tier1	-	no_errors	ENST00000249016	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	A
MCM3AP	8888	genome.wustl.edu	37	21	47703581	47703581	+	Missense_Mutation	SNP	C	C	T	rs139188881		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr21:47703581C>T	ENST00000397708.1	-	3	1645	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R464H|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000339195.6_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	464	DNA primase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGTAAAGATGCGCTGCACTTT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20180	0.0		0.001	False		,,,				2504	0.0																0													106.0	100.0	102.0					21																	47703581		2203	4300	6503	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1391G>A	21.37:g.47703581C>T	ENSP00000380820:p.Arg464His		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R464H	ENST00000397708.1	37	c.1391	CCDS13734.1	21	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.01	3.744671	0.69418	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.04654	3.58;3.58	4.97	4.07	0.47477	Nucleotide-binding, alpha-beta plait (1);	0.054333	0.64402	D	0.000001	T	0.17365	0.0417	M	0.66939	2.045	0.41003	D	0.984946	D	0.89917	1.0	D	0.69824	0.966	T	0.00398	-1.1764	10	0.72032	D	0.01	-18.0077	12.7105	0.57086	0.0:0.9204:0.0:0.0796	.	464	O60318	MCM3A_HUMAN	H	464	ENSP00000380820:R464H;ENSP00000291688:R464H	ENSP00000291688:R464H	R	-	2	0	MCM3AP	46528009	0.985000	0.35326	0.932000	0.37286	0.806000	0.45545	2.626000	0.46460	2.284000	0.76573	0.563000	0.77884	CGC	MCM3AP	-	NULL	ENSG00000160294		0.463	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1		0.00	38	0	C	NM_003906		47703581	-1			no_errors	ENST00000291688	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.980	T
MDN1	23195	genome.wustl.edu	37	6	90393001	90393001	+	Frame_Shift_Del	DEL	G	G	-	rs527705775		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:90393001delG	ENST00000369393.3	-	73	12067	c.11952delC	c.(11950-11952)cccfs	p.P3984fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.P3984fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3984					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGACCGGCAGGGTTCACTCA	0.458																																																	0													70.0	63.0	65.0					6																	90393001		2203	4300	6503	SO:0001589	frameshift_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11952delC	6.37:g.90393001delG	ENSP00000358400:p.Pro3984fs		O15019|Q5T794	Frame_Shift_Del	DEL	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.C3985fs	ENST00000369393.3	37	c.11952	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin	ENSG00000112159		0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2		0.00	33	0	G			90393001	-1	tier1		no_errors	ENST00000369393	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.990	-
MIR99AHG	388815	genome.wustl.edu	37	21	17911455	17911455	+	lincRNA	SNP	G	G	A	rs370572004		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr21:17911455G>A	ENST00000458468.1	+	0	579				MIR99A_ENST00000384906.1_RNA|MIRLET7C_ENST00000362160.1_RNA	NR_027790.1																						GAAGTGGACCGCACAAGCTCG	0.428																																																	0								G		1,3135		0,1,1567	86.0	84.0	85.0			1.1	1.0	21		85	0,7164		0,0,3582	no	intergenic				0,1,5149	AA,AG,GG		0.0,0.0319,0.0097			17911455	1,10299	1568	3582	5150			0																															21.37:g.17911455G>A				RNA	SNP	-	NULL	ENST00000458468.1	37	NULL		21																																																																																			MIR99A	-	-	ENSG00000207638		0.428	LINC00478-001	KNOWN	basic	lincRNA	MIR99A	HGNC	lincRNA	OTTHUMT00000158029.1		0.00	52	0	G			17911455	+1			no_errors	ENST00000384906	ensembl	human	known	74_37	rna	6.78	55	4	SNP	0.969	A
MKLN1	4289	genome.wustl.edu	37	7	131172442	131172442	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:131172442C>A	ENST00000352689.6	+	18	2203	c.2163C>A	c.(2161-2163)agC>agA	p.S721R	MKLN1_ENST00000421797.2_Missense_Mutation_p.S629R|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	721					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTCCTGACAGCATGACTCCTC	0.428																																																	0													96.0	87.0	90.0					7																	131172442		2203	4300	6503	SO:0001583	missense	0			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.2163C>A	7.37:g.131172442C>A	ENSP00000323527:p.Ser721Arg		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.S721R	ENST00000352689.6	37	c.2163	CCDS34754.1	7	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963089	0.34659	.	.	ENSG00000128585	ENST00000421797;ENST00000352689	T;T	0.46819	1.85;0.86	5.69	3.84	0.44239	.	0.178584	0.64402	D	0.000010	T	0.31513	0.0799	N	0.19112	0.55	0.51012	D	0.999909	B;B	0.12013	0.005;0.001	B;B	0.14578	0.011;0.002	T	0.05209	-1.0899	10	0.33940	T	0.23	-13.045	10.8498	0.46763	0.0:0.7977:0.131:0.0713	.	721;698	Q9UL63;B4DG30	MKLN1_HUMAN;.	R	629;721	ENSP00000398094:S629R;ENSP00000323527:S721R	ENSP00000323527:S721R	S	+	3	2	MKLN1	130822982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.896000	0.63222	0.709000	0.31976	0.655000	0.94253	AGC	MKLN1	-	NULL	ENSG00000128585		0.428	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MKLN1	HGNC	protein_coding	OTTHUMT00000337473.4	-	0.00	70	0	C	NM_013255		131172442	+1	tier1	-	no_errors	ENST00000352689	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A
MLH3	27030	genome.wustl.edu	37	14	75513750	75513750	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr14:75513750G>T	ENST00000556740.1	-	1	2644	c.2609C>A	c.(2608-2610)tCt>tAt	p.S870Y	MLH3_ENST00000380968.2_De_novo_Start_OutOfFrame|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.S870Y|MLH3_ENST00000355774.2_Missense_Mutation_p.S870Y|MLH3_ENST00000238662.7_Missense_Mutation_p.S870Y|MLH3_ENST00000544985.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	870					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TAGTGATTCAGATGACTTCTC	0.383								Mismatch excision repair (MMR)																																									0													112.0	119.0	117.0					14																	75513750		2203	4300	6503	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2609C>A	14.37:g.75513750G>T	ENSP00000452316:p.Ser870Tyr		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C	p.S870Y	ENST00000556740.1	37	c.2609	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496319	0.26861	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.80824	-1.37;-1.37;-1.42;-1.37	5.83	3.68	0.42216	.	0.763029	0.12650	N	0.450500	T	0.69504	0.3118	N	0.22421	0.69	0.19775	N	0.999951	P;P	0.48230	0.907;0.85	B;B	0.41036	0.346;0.188	T	0.59878	-0.7371	10	0.44086	T	0.13	-1.9431	11.9125	0.52747	0.1598:0.0:0.8402:0.0	.	870;870	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	Y	870	ENSP00000348020:S870Y;ENSP00000238662:S870Y;ENSP00000451540:S870Y;ENSP00000452316:S870Y	ENSP00000238662:S870Y	S	-	2	0	MLH3	74583503	0.826000	0.29277	0.469000	0.27204	0.915000	0.54546	2.046000	0.41260	1.459000	0.47892	0.650000	0.86243	TCT	MLH3	-	NULL	ENSG00000119684		0.383	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	-	0.00	28	0	G	NM_014381		75513750	-1	tier1	-	no_errors	ENST00000355774	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.094	T
MOG	4340	genome.wustl.edu	37	6	29627100	29627100	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:29627100G>T	ENST00000376917.3	+	2	322	c.93G>T	c.(91-93)caG>caT	p.Q31H	MOG_ENST00000376894.4_Missense_Mutation_p.Q31H|MOG_ENST00000490427.1_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.Q31H|MOG_ENST00000416766.2_Missense_Mutation_p.Q31H|MOG_ENST00000376898.3_Missense_Mutation_p.Q31H|MOG_ENST00000396701.2_Missense_Mutation_p.Q31H|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Missense_Mutation_p.Q31H|MOG_ENST00000431798.2_Missense_Mutation_p.Q31H|MOG_ENST00000483013.1_Intron|MOG_ENST00000533330.2_Missense_Mutation_p.Q31H|MOG_ENST00000376902.3_Missense_Mutation_p.Q31H|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000494692.1_Missense_Mutation_p.Q31H	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	31					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGACAGGGCAGTTCAGAGTGA	0.522																																																	0													173.0	193.0	186.0					6																	29627100		1510	2709	4219	SO:0001583	missense	0				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.93G>T	6.37:g.29627100G>T	ENSP00000366115:p.Gln31His		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Splice_Site	SNP	-	e2-1	ENST00000376917.3	37	c.89-1	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009773	0.35415	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.08008	3.31;3.35;3.35;3.27;3.14;3.3;3.28;3.31;3.29;3.3;3.3	5.59	1.19	0.21007	.	0.000000	0.56097	D	0.000031	T	0.10809	0.0264	L	0.58302	1.8	0.28951	N	0.890392	D;D;D;D;D;D;D;D;D;D	0.71674	0.998;0.992;0.992;0.988;0.992;0.992;0.995;0.992;0.995;0.989	D;D;D;D;D;D;D;P;P;D	0.80764	0.994;0.972;0.972;0.985;0.97;0.97;0.988;0.867;0.77;0.961	T	0.03534	-1.1027	10	0.56958	D	0.05	.	10.2588	0.43414	0.3367:0.0:0.6633:0.0	.	31;31;31;31;31;31;31;31;31;31	C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;MOG_HUMAN;.;.;.	H	31	ENSP00000366115:Q31H;ENSP00000366100:Q31H;ENSP00000431709:Q31H;ENSP00000366091:Q31H;ENSP00000409394:Q31H;ENSP00000366088:Q31H;ENSP00000366095:Q31H;ENSP00000410866:Q31H;ENSP00000379929:Q31H;ENSP00000417405:Q31H;ENSP00000379932:Q31H	ENSP00000366088:Q31H	Q	+	3	2	MOG	29735079	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.883000	0.39658	0.280000	0.22209	0.655000	0.94253	CAG	MOG	-	-	ENSG00000204655		0.522	MOG-001	KNOWN	basic|CCDS	protein_coding	MOG	HGNC	protein_coding	OTTHUMT00000076160.3	-	0.00	29	0	G	NM_002433		29627100	+1	tier1	-	no_errors	ENST00000376903	ensembl	human	known	74_37	splice_site	14.29	18	3	SNP	0.998	T
MROH2B	133558	genome.wustl.edu	37	5	41051168	41051168	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:41051168G>T	ENST00000399564.4	-	13	1705	c.1255C>A	c.(1255-1257)Cat>Aat	p.H419N	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	419																	TCATTCTCATGAAAGTTAGTT	0.438																																																	0													62.0	61.0	61.0					5																	41051168		1835	4085	5920	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1255C>A	5.37:g.41051168G>T	ENSP00000382476:p.His419Asn		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H419N	ENST00000399564.4	37	c.1255	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	8.012	0.757693	0.15846	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.67345	-0.26	5.04	2.05	0.26809	Armadillo-type fold (1);	2.051990	0.01931	N	0.041250	T	0.42131	0.1189	N	0.03608	-0.345	0.09310	N	1	B	0.16166	0.016	B	0.16289	0.015	T	0.32375	-0.9909	10	0.25106	T	0.35	.	3.2165	0.06701	0.0955:0.1736:0.5516:0.1792	.	419	Q7Z745	HTRB2_HUMAN	N	123;419	ENSP00000382476:H419N	ENSP00000296803:H123N	H	-	1	0	HEATR7B2	41086925	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.953000	0.29162	0.503000	0.28060	0.655000	0.94253	CAT	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.438	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0.00	56	0	G	NM_173489		41051168	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	39.58	29	19	SNP	0.000	T
MTM1	4534	genome.wustl.edu	37	X	149818273	149818273	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chrX:149818273C>T	ENST00000370396.2	+	10	1006	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	MTM1_ENST00000413012.2_Missense_Mutation_p.R281W|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Missense_Mutation_p.R223W|MTM1_ENST00000543350.1_Missense_Mutation_p.R203W	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	318	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCATGTTATGCGGGAATCTTT	0.348																																																	0													105.0	103.0	103.0					X																	149818273		2203	4297	6500	SO:0001583	missense	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.952C>T	X.37:g.149818273C>T	ENSP00000359423:p.Arg318Trp		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.R318W	ENST00000370396.2	37	c.952	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656291	0.67586	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	5.83	3.87	0.44632	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	H	0.99425	4.56	0.49687	D	0.999814	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99133	1.0853	10	0.87932	D	0	.	14.5048	0.67746	0.4017:0.5983:0.0:0.0	.	281;318	B7Z491;Q13496	.;MTM1_HUMAN	W	318;223;203;281	ENSP00000359423:R318W;ENSP00000444015:R223W;ENSP00000439784:R203W;ENSP00000389157:R281W	ENSP00000359423:R318W	R	+	1	2	MTM1	149568931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.030000	0.30153	1.191000	0.43056	0.594000	0.82650	CGG	MTM1	-	NULL	ENSG00000171100		0.348	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	-	0.00	38	0	C	NM_000252		149818273	+1	tier1	-	no_errors	ENST00000370396	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	T
MUC6	4588	genome.wustl.edu	37	11	1017187	1017187	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:1017187T>C	ENST00000421673.2	-	31	5664	c.5614A>G	c.(5614-5616)Atg>Gtg	p.M1872V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1872	Approximate repeats.|Thr-rich.			M -> T (in Ref. 5; AAA35866). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGTTGGCATTGAGTGGATG	0.572																																																	0													474.0	451.0	459.0					11																	1017187		2200	4288	6488	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5614A>G	11.37:g.1017187T>C	ENSP00000406861:p.Met1872Val		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.M1872V	ENST00000421673.2	37	c.5614	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.190078	0.00302	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.81	0.0294	0.14162	.	.	.	.	.	T	0.09423	0.0232	N	0.14661	0.345	0.09310	N	1	B	0.20671	0.047	B	0.31101	0.124	T	0.41734	-0.9492	9	0.29301	T	0.29	.	4.4687	0.11701	0.0:0.1238:0.1967:0.6795	.	1872	Q6W4X9	MUC6_HUMAN	V	1872	ENSP00000406861:M1872V	ENSP00000406861:M1872V	M	-	1	0	MUC6	1007187	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.035000	0.01423	-0.106000	0.12110	-0.908000	0.02827	ATG	MUC6	-	NULL	ENSG00000184956		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0.00	455	0	T	XM_290540		1017187	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	5.11	296	16	SNP	0.000	C
MUC5B	727897	genome.wustl.edu	37	11	1265736	1265736	+	Silent	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:1265736C>T	ENST00000529681.1	+	31	7684	c.7626C>T	c.(7624-7626)tcC>tcT	p.S2542S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.S2545S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2542	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCATCCCCTCCTCCTCCCTGG	0.622																																																	0													10.0	13.0	12.0					11																	1265736		1752	3966	5718	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7626C>T	11.37:g.1265736C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S2545	ENST00000529681.1	37	c.7635	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0.00	33	0	C	XM_001126093		1265736	+1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.000	T
MYO1B	4430	genome.wustl.edu	37	2	192280957	192280957	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:192280957G>T	ENST00000392318.3	+	30	3523	c.3276G>T	c.(3274-3276)gaG>gaT	p.E1092D	MYO1B_ENST00000392316.1_Missense_Mutation_p.E1063D|MYO1B_ENST00000339514.4_Missense_Mutation_p.E1034D|MYO1B_ENST00000304164.4_Missense_Mutation_p.E1092D|MYO1B_ENST00000439065.2_Missense_Mutation_p.E337D	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1092	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TCAATATTGAGATTTCCGATG	0.388																																																	0													170.0	160.0	163.0					2																	192280957		2203	4300	6503	SO:0001583	missense	0			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.3276G>T	2.37:g.192280957G>T	ENSP00000376132:p.Glu1092Asp		O43794|Q7Z6L5	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1092D	ENST00000392318.3	37	c.3276	CCDS46477.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.983|8.983	0.975739|0.975739	0.18736|0.18736	.|.	.|.	ENSG00000128641|ENSG00000128641	ENST00000427152|ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	.|T;T;T;T;T	.|0.36520	.|1.25;1.25;1.25;1.25;1.25	5.46|5.46	-0.744|-0.744	0.11101|0.11101	.|Myosin tail 2 (1);	.|0.051836	.|0.85682	.|D	.|0.000000	T|T	0.12732|0.12732	0.0309|0.0309	N|N	0.01705|0.01705	-0.755|-0.755	0.37089|0.37089	D|D	0.899364|0.899364	.|B;B;B	.|0.11235	.|0.002;0.001;0.004	.|B;B;B	.|0.12156	.|0.007;0.006;0.004	T|T	0.13308|0.13308	-1.0514|-1.0514	5|10	.|0.23891	.|T	.|0.37	.|.	11.182|11.182	0.48633|0.48633	0.4112:0.0:0.5888:0.0|0.4112:0.0:0.5888:0.0	.|.	.|337;1092;1034	.|E7EPB4;O43795;O43795-2	.|.;MYO1B_HUMAN;.	Y|D	171|1034;1092;1092;1063;337	.|ENSP00000341903:E1034D;ENSP00000376132:E1092D;ENSP00000306382:E1092D;ENSP00000376130:E1063D;ENSP00000391442:E337D	.|ENSP00000306382:E1092D	D|E	+|+	1|3	0|2	MYO1B|MYO1B	191989202|191989202	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.789000|0.789000	0.44602|0.44602	0.861000|0.861000	0.27885|0.27885	-0.031000|-0.031000	0.13781|0.13781	-0.218000|-0.218000	0.12543|0.12543	GAT|GAG	MYO1B	-	pfam_Myosin_tail_2	ENSG00000128641		0.388	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	-	0.00	51	0	G	NM_012223		192280957	+1	tier1	-	no_errors	ENST00000304164	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.998	T
MYO1F	4542	genome.wustl.edu	37	19	8587367	8587367	+	Missense_Mutation	SNP	C	C	G	rs187667984	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:8587367C>G	ENST00000338257.8	-	27	3381	c.3114G>C	c.(3112-3114)caG>caC	p.Q1038H		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1038					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGTCCGAGGCTGGGGCTTGG	0.627																																																	0													37.0	40.0	39.0					19																	8587367		2011	4179	6190	SO:0001583	missense	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.3114G>C	19.37:g.8587367C>G	ENSP00000344871:p.Gln1038His		Q8WWN7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.Q1038H	ENST00000338257.8	37	c.3114	CCDS42494.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.79|13.79	2.340877|2.340877	0.41498|0.41498	.|.	.|.	ENSG00000142347|ENSG00000142347	ENST00000338257|ENST00000305795	T|.	0.29917|.	1.55|.	5.5|5.5	0.83|0.83	0.18854|0.18854	Src homology-3 domain (1);|.	.|1.195310	.|0.06248	.|N	.|0.691592	T|T	0.63379|0.63379	0.2506|0.2506	M|M	0.73962|0.73962	2.25|2.25	0.36583|0.36583	D|D	0.873645|0.873645	P|.	0.35944|.	0.529|.	B|.	0.38755|.	0.281|.	T|T	0.55179|0.55179	-0.8181|-0.8181	9|7	0.56958|0.22109	D|T	0.05|0.4	.|.	7.9515|7.9515	0.30017|0.30017	0.0:0.5486:0.0:0.4514|0.0:0.5486:0.0:0.4514	.|.	1038|.	O00160|.	MYO1F_HUMAN|.	H|T	1038|1082	ENSP00000344871:Q1038H|.	ENSP00000344871:Q1038H|ENSP00000304899:S1082T	Q|S	-|-	3|2	2|0	MYO1F|MYO1F	8493367|8493367	0.262000|0.262000	0.24073|0.24073	0.995000|0.995000	0.50966|0.50966	0.676000|0.676000	0.39594|0.39594	-0.321000|-0.321000	0.08018|0.08018	-0.030000|-0.030000	0.13804|0.13804	0.650000|0.650000	0.86243|0.86243	CAG|AGC	MYO1F	-	superfamily_SH3_domain	ENSG00000142347		0.627	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	-	0.00	46	0	C			8587367	-1	tier1	-	no_errors	ENST00000338257	ensembl	human	known	74_37	missense	36.59	26	15	SNP	1.000	G
MYO1G	64005	genome.wustl.edu	37	7	45015193	45015193	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:45015193G>T	ENST00000258787.7	-	4	590	c.454C>A	c.(454-456)Cgc>Agc	p.R152S		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	152	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CGGTTGGTGCGGGCATTGCCA	0.567																																																	0													110.0	101.0	104.0					7																	45015193		2203	4300	6503	SO:0001583	missense	0			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.454C>A	7.37:g.45015193G>T	ENSP00000258787:p.Arg152Ser		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R152S	ENST00000258787.7	37	c.454	CCDS34629.1	7	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414639	0.62511	.	.	ENSG00000136286	ENST00000258787	T	0.71341	-0.56	4.44	4.44	0.53790	Myosin head, motor domain (3);	0.175329	0.27730	N	0.018082	T	0.64757	0.2627	L	0.33668	1.02	0.40792	D	0.983262	P;P	0.46277	0.875;0.797	P;P	0.47402	0.507;0.546	T	0.69431	-0.5147	10	0.87932	D	0	.	10.1695	0.42902	0.0:0.0:0.6983:0.3017	.	152;152	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	S	152	ENSP00000258787:R152S	ENSP00000258787:R152S	R	-	1	0	MYO1G	44981718	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.562000	0.73960	2.459000	0.83118	0.655000	0.94253	CGC	MYO1G	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000136286		0.567	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1G	HGNC	protein_coding	OTTHUMT00000341832.2	-	0.00	41	0	G			45015193	-1	tier1	-	no_errors	ENST00000258787	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T
EEF1D	1936	genome.wustl.edu	37	8	144659490	144659491	+	IGR	INS	-	-	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr8:144659490_144659491insT	ENST00000529272.1	-	0	1311				RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Frame_Shift_Ins_p.A173fs|NAPRT1_ENST00000449291.2_Frame_Shift_Ins_p.A173fs|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000276844.7_Frame_Shift_Ins_p.A173fs|RP11-661A12.7_ENST00000529247.1_RNA|NAPRT1_ENST00000426292.3_Frame_Shift_Ins_p.A173fs			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGCCCTGAGCCCGCCTCAGGC	0.688																																																	0																																										SO:0001628	intergenic_variant	0			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191		8.37:g.144659490_144659491insT			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Frame_Shift_Ins	INS	pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB	p.A172fs	ENST00000529272.1	37	c.517_516	CCDS6405.1	8																																																																																			NAPRT1	-	pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB	ENSG00000147813		0.688	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NAPRT1	HGNC	protein_coding	OTTHUMT00000382592.2		0.00	42	0	-	NM_032378		144659491	-1	tier1		no_errors	ENST00000276844	ensembl	human	known	74_37	frame_shift_ins	15.38	22	4	INS	0.971:0.015	T
EEF1D	1936	genome.wustl.edu	37	8	144659491	144659492	+	IGR	INS	-	-	G			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr8:144659491_144659492insG	ENST00000529272.1	-	0	1311				RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Frame_Shift_Ins_p.R172fs|NAPRT1_ENST00000449291.2_Frame_Shift_Ins_p.R172fs|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000276844.7_Frame_Shift_Ins_p.R172fs|RP11-661A12.7_ENST00000529247.1_RNA|NAPRT1_ENST00000426292.3_Frame_Shift_Ins_p.R172fs			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGCCCTGAGCCCGCCTCAGGCC	0.693																																																	0																																										SO:0001628	intergenic_variant	0			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191		8.37:g.144659491_144659492insG			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Frame_Shift_Ins	INS	pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB	p.A173fs	ENST00000529272.1	37	c.516_515	CCDS6405.1	8																																																																																			NAPRT1	-	pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB	ENSG00000147813		0.693	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NAPRT1	HGNC	protein_coding	OTTHUMT00000382592.2		0.00	42	0	-	NM_032378		144659492	-1	tier1		no_errors	ENST00000276844	ensembl	human	known	74_37	frame_shift_ins	15.38	22	4	INS	0.015:0.852	G
NBPF10	100132406	genome.wustl.edu	37	1	145304458	145304458	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:145304458A>G	ENST00000369339.3	+	7	831	c.578A>G	c.(577-579)aAg>aGg	p.K193R	NBPF10_ENST00000342960.5_Missense_Mutation_p.K464R|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.K193R			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	464	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGATGCAGAAGGCTGAAGAA	0.502																																																	0																																										SO:0001583	missense	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.578A>G	1.37:g.145304458A>G	ENSP00000358345:p.Lys193Arg		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.K464R	ENST00000369339.3	37	c.1391		1	.	.	.	.	.	.	.	.	.	.	.	10.31	1.315705	0.23908	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.07216	3.21;3.21	0.811	-0.44	0.12261	.	.	.	.	.	T	0.06645	0.0170	L	0.49350	1.555	0.09310	N	1	P;P;P;P	0.51653	0.814;0.873;0.947;0.855	P;P;P;P	0.62298	0.696;0.787;0.9;0.573	T	0.19516	-1.0303	9	0.62326	D	0.03	.	2.8567	0.05574	0.6599:0.0:0.3401:0.0	.	139;429;395;193	Q4VC10;Q3BBV7;Q5U227;A8MQ30	.;.;.;.	R	389;193;193;464	ENSP00000358344:K193R;ENSP00000345684:K464R	ENSP00000345684:K464R	K	+	2	0	NBPF10	144015815	0.053000	0.20554	0.001000	0.08648	0.011000	0.07611	0.468000	0.22051	-0.176000	0.10707	0.234000	0.17832	AAG	NBPF10	-	pfam_NBPF_dom	ENSG00000163386		0.502	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	-	0.00	305	0	A	NM_001039703		145304458	+1	tier1	-	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	20.09	361	91	SNP	0.001	G
NCOA3	8202	genome.wustl.edu	37	20	46277770	46277770	+	Missense_Mutation	SNP	G	G	A	rs144021243		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr20:46277770G>A	ENST00000371998.3	+	19	3759	c.3568G>A	c.(3568-3570)Gca>Aca	p.A1190T	NCOA3_ENST00000372004.3_Missense_Mutation_p.A1190T|NCOA3_ENST00000371997.3_Missense_Mutation_p.A1185T|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1120T			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1190	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAGCCGACAGGCACTTGAATT	0.517																																																	0													83.0	75.0	77.0					20																	46277770		2203	4300	6503	SO:0001583	missense	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3568G>A	20.37:g.46277770G>A	ENSP00000361066:p.Ala1190Thr		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.A1190T	ENST00000371998.3	37	c.3568	CCDS13407.1	20	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474692	0.63737	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.75	4.8	0.61643	.	0.072930	0.56097	D	0.000026	T	0.45696	0.1355	M	0.75264	2.295	0.47547	D	0.999452	B;B;B;B;B;B	0.24618	0.038;0.107;0.017;0.017;0.03;0.038	B;B;B;B;B;B	0.23852	0.025;0.034;0.022;0.022;0.049;0.025	T	0.36915	-0.9728	10	0.22706	T	0.39	-11.6682	9.9725	0.41763	0.1569:0.0:0.8431:0.0	.	1190;1185;1194;1190;1190;1190	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	T	1190;1120;1190;1190;1185	ENSP00000342123:A1120T;ENSP00000361073:A1190T;ENSP00000361066:A1190T;ENSP00000361065:A1185T	ENSP00000345671:A1190T	A	+	1	0	NCOA3	45711177	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.592000	0.46171	1.439000	0.47511	0.655000	0.94253	GCA	NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.517	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1		0.00	26	0	G	NM_006534		46277770	+1			no_errors	ENST00000371998	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A
NET1	10276	genome.wustl.edu	37	10	5494811	5494811	+	Intron	DEL	A	A	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr10:5494811delA	ENST00000355029.4	+	6	673				NET1_ENST00000380359.3_Intron|NET1_ENST00000542715.1_5'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1						apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						TGTTTGCTGGATGTTTTTAGG	0.328																																																	0													90.0	92.0	91.0					10																	5494811		2203	4300	6503	SO:0001627	intron_variant	0			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.532-10A>-	10.37:g.5494811delA			Q12773|Q96D82|Q99903|Q9UEN6	RNA	DEL	-	NULL	ENST00000355029.4	37	NULL	CCDS41483.1	10																																																																																			NET1	-	-	ENSG00000173848		0.328	NET1-005	KNOWN	basic|CCDS	protein_coding	NET1	HGNC	protein_coding	OTTHUMT00000046553.3		0.00	37	0	A	NM_005863		5494811	+1	tier1		no_errors	ENST00000486354	ensembl	human	known	74_37	rna	11.43	31	4	DEL	0.001	-
NFE2L2	4780	genome.wustl.edu	37	2	178098957	178098957	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:178098957G>A	ENST00000397062.3	-	2	642	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L30F(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTTACTCCAAGATCTATATCT	0.368			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	5	Substitution - Missense(5)	lung(3)|oesophagus(1)|skin(1)											68.0	61.0	63.0					2																	178098957		1842	4101	5943	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.88C>T	2.37:g.178098957G>A	ENSP00000380252:p.Leu30Phe		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.L30F	ENST00000397062.3	37	c.88	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298628	0.81025	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.997	T	0.72623	-0.4237	10	0.87932	D	0	.	19.9976	0.97389	0.0:0.0:1.0:0.0	.	14;14;14;30	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	F	14;30;14;14;14;14;14	ENSP00000380253:L14F;ENSP00000380252:L30F;ENSP00000411575:L14F;ENSP00000391590:L14F;ENSP00000400073:L14F;ENSP00000412191:L14F;ENSP00000410015:L14F	ENSP00000380252:L30F	L	-	1	0	NFE2L2	177807203	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.737000	0.93849	0.563000	0.77884	CTT	NFE2L2	-	NULL	ENSG00000116044		0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4		0.00	56	0	G	NM_006164		178098957	-1			no_errors	ENST00000397062	ensembl	human	known	74_37	missense	24.07	41	13	SNP	1.000	A
NIT2	56954	genome.wustl.edu	37	3	100058768	100058768	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:100058768A>T	ENST00000394140.4	+	3	327	c.236A>T	c.(235-237)tAt>tTt	p.Y79F		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	79	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TGCAGCATATATCTCATTGGA	0.413																																																	0													77.0	75.0	76.0					3																	100058768		2203	4300	6503	SO:0001583	missense	0			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.236A>T	3.37:g.100058768A>T	ENSP00000377696:p.Tyr79Phe		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.Y79F	ENST00000394140.4	37	c.236	CCDS33806.1	3	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007192	0.54361	.	.	ENSG00000114021	ENST00000394140	D	0.87650	-2.28	5.24	4.06	0.47325	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.057922	0.64402	D	0.000001	D	0.83069	0.5174	L	0.33339	1.005	0.52099	D	0.999947	B;B	0.28208	0.063;0.203	B;B	0.38562	0.17;0.276	T	0.79167	-0.1915	10	0.48119	T	0.1	-22.1402	10.276	0.43510	0.7367:0.0:0.0:0.2633	.	79;79	B7Z3F9;Q9NQR4	.;NIT2_HUMAN	F	79	ENSP00000377696:Y79F	ENSP00000377696:Y79F	Y	+	2	0	NIT2	101541458	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.709000	0.54853	0.912000	0.36772	0.533000	0.62120	TAT	NIT2	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	ENSG00000114021		0.413	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT2	HGNC	protein_coding	OTTHUMT00000353142.2	-	0.00	66	0	A	NM_020202		100058768	+1	tier1	-	no_errors	ENST00000394140	ensembl	human	known	74_37	missense	46.55	62	54	SNP	1.000	T
NTRK2	4915	genome.wustl.edu	37	9	87635245	87635245	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr9:87635245G>A	ENST00000323115.4	+	16	2602	c.2249G>A	c.(2248-2250)gGc>gAc	p.G750D	NTRK2_ENST00000376213.1_Missense_Mutation_p.G750D|NTRK2_ENST00000277120.3_Missense_Mutation_p.G766D|NTRK2_ENST00000376214.1_Missense_Mutation_p.G766D			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	750	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TTCACCTATGGCAAACAGCCC	0.557										TSP Lung(25;0.17)																																							0													125.0	115.0	118.0					9																	87635245		2203	4300	6503	SO:0001583	missense	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2249G>A	9.37:g.87635245G>A	ENSP00000314586:p.Gly750Asp		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.G766D	ENST00000323115.4	37	c.2297	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.711085	0.96821	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96716	0.9529	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	750;766	Q16620;Q16620-4	NTRK2_HUMAN;.	D	766;750;766;750	ENSP00000365387:G766D;ENSP00000365386:G750D;ENSP00000277120:G766D;ENSP00000314586:G750D	ENSP00000277120:G766D	G	+	2	0	NTRK2	86825065	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.860000	0.99555	2.941000	0.99782	0.655000	0.94253	GGC	NTRK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000148053		0.557	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1		0.00	28	0	G			87635245	+1			no_errors	ENST00000277120	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	A
NUP205	23165	genome.wustl.edu	37	7	135261145	135261145	+	Silent	SNP	A	A	G	rs143165300		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:135261145A>G	ENST00000285968.6	+	4	497	c.471A>G	c.(469-471)acA>acG	p.T157T	NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	157					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGGGAAAGACATGGACCCTAG	0.398													A|||	1	0.000199681	0.0	0.0	5008	,	,		18011	0.001		0.0	False		,,,				2504	0.0																0													143.0	137.0	139.0					7																	135261145		2203	4300	6503	SO:0001819	synonymous_variant	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.471A>G	7.37:g.135261145A>G			A6H8X3|Q86YC1	Silent	SNP	pfam_Nup186/Nup192/Nup205	p.T157	ENST00000285968.6	37	c.471	CCDS34759.1	7																																																																																			NUP205	-	pfam_Nup186/Nup192/Nup205	ENSG00000155561		0.398	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1		0.00	73	0	A			135261145	+1			no_errors	ENST00000285968	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.116	G
OR5H6	79295	genome.wustl.edu	37	3	97983602	97983602	+	Silent	SNP	T	T	C	rs75354046	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:97983602T>C	ENST00000383696.2	+	1	515	c.474T>C	c.(472-474)atT>atC	p.I158I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AACTATGCATTCAGCTATTAG	0.358																																																	0													109.0	102.0	104.0					3																	97983602		2203	4299	6502	SO:0001819	synonymous_variant	0			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.474T>C	3.37:g.97983602T>C			Q6IF88	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I158	ENST00000383696.2	37	c.474	CCDS33800.1	3																																																																																			OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000230301		0.358	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	-	0.00	77	0	T			97983602	+1	tier1	rs75354046	no_errors	ENST00000383696	ensembl	human	known	74_37	silent	6.94	134	10	SNP	0.000	C
PCNXL4	64430	genome.wustl.edu	37	14	60592519	60592519	+	Missense_Mutation	SNP	C	C	A	rs141434749		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr14:60592519C>A	ENST00000406854.1	+	10	3799	c.3245C>A	c.(3244-3246)tCt>tAt	p.S1082Y	PCNXL4_ENST00000535349.1_Missense_Mutation_p.S289Y|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S1082Y|PCNXL4_ENST00000317623.4_Missense_Mutation_p.S848Y|PCNXL4_ENST00000406949.1_Missense_Mutation_p.S848Y			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1082						integral component of membrane (GO:0016021)											TACTTGTTTTCTCTGGGGTAT	0.294																																																	0													49.0	54.0	52.0					14																	60592519		2203	4299	6502	SO:0001583	missense	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.3245C>A	14.37:g.60592519C>A	ENSP00000384801:p.Ser1082Tyr		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.S1082Y	ENST00000406854.1	37	c.3245		14	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005995	0.74932	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.26	4.35	0.52113	.	0.233674	0.45126	D	0.000385	T	0.67627	0.2913	M	0.73962	2.25	0.51233	D	0.999918	D;D	0.71674	0.998;0.997	D;D	0.69654	0.965;0.964	T	0.72950	-0.4136	10	0.87932	D	0	.	15.4767	0.75485	0.0:0.856:0.144:0.0	.	1082;848	Q63HM2;B5MC47	CN135_HUMAN;.	Y	848;1082;848;1082;289	ENSP00000317396:S848Y;ENSP00000384801:S1082Y;ENSP00000385201:S848Y;ENSP00000385713:S1082Y;ENSP00000445644:S289Y	ENSP00000317396:S848Y	S	+	2	0	C14orf135	59662272	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.779000	0.68948	1.184000	0.42957	0.557000	0.71058	TCT	PCNXL4	-	pfam_Pecanex	ENSG00000126773		0.294	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1		0.00	43	0	C	NM_022495		60592519	+1			no_errors	ENST00000404681	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A
POLN	353497	genome.wustl.edu	37	4	2073729	2073729	+	3'UTR	DEL	C	C	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:2073729delC	ENST00000511885.2	-	0	3168				POLN_ENST00000382865.1_3'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu						double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TGGCGGGCCACCCCAGCCCCA	0.592								DNA polymerases (catalytic subunits)																																									0																																										SO:0001624	3_prime_UTR_variant	0			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.*112G>-	4.37:g.2073729delC			A2A336|B4E158|Q4TTW4|Q6ZNF4	RNA	DEL	-	NULL	ENST00000511885.2	37	NULL	CCDS3360.1	4																																																																																			POLN	-	-	ENSG00000130997		0.592	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2		0.00	67	0	C	NM_181808		2073729	-1	tier1		no_errors	ENST00000503371	ensembl	human	known	74_37	rna	5.26	36	2	DEL	0.000	-
UPK3BL	100134938	genome.wustl.edu	37	7	102182057	102182057	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:102182057C>T	ENST00000514917.2	-	7	801	c.802G>A	c.(802-804)Ggg>Agg	p.G268R	POLR2J3_ENST00000379357.5_Silent_p.A55A|RP11-514P8.8_ENST00000481893.1_RNA																							TGAGCCTCCCCGCCAAGGTGT	0.617																																																	0																																										SO:0001583	missense	0																														ENST00000514917.2:c.802G>A	7.37:g.102182057C>T	ENSP00000423309:p.Gly268Arg			Missense_Mutation	SNP	superfamily_RBP11-like_dimer	p.G94R	ENST00000514917.2	37	c.280		7	.	.	.	.	.	.	.	.	.	.	c	23.3	4.401304	0.83120	.	.	ENSG00000168255	ENST00000514917	.	.	.	3.74	0.28	0.15682	.	.	.	.	.	T	0.59797	0.2220	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58847	-0.7564	5	0.72032	D	0.01	-4.3616	6.5186	0.22262	0.0:0.6575:0.0:0.3425	.	.	.	.	R	268	.	ENSP00000419146:G94R	G	-	1	0	POLR2J3	101969062	0.000000	0.05858	0.971000	0.41717	0.843000	0.47879	-2.981000	0.00662	0.118000	0.18165	0.544000	0.68410	GGG	POLR2J3	-	NULL	ENSG00000168255		0.617	RP11-514P8.7-001	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	POLR2J3	HGNC	protein_coding	OTTHUMT00000469674.1	-	0.00	59	0	C			102182057	-1	tier1	-	no_errors	ENST00000486319	ensembl	human	known	74_37	missense	14.29	35	6	SNP	0.986	T
PPP1R10	5514	genome.wustl.edu	37	6	30573700	30573700	+	Splice_Site	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:30573700G>A	ENST00000376511.2	-	10	1405	c.853C>T	c.(853-855)Cct>Tct	p.P285S		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	285	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTAGACTCACGCTGTGGCGGG	0.458																																																	0													292.0	285.0	287.0					6																	30573700		2203	4300	6503	SO:0001630	splice_region_variant	0			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.853+1C>T	6.37:g.30573700G>A			O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.P285S	ENST00000376511.2	37	c.853	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174425	0.57692	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.48836	0.8	5.68	5.68	0.88126	.	0.053525	0.85682	D	0.000000	T	0.48447	0.1500	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54860	-0.8230	10	0.62326	D	0.03	-8.5297	18.5564	0.91086	0.0:0.0:1.0:0.0	.	285	Q96QC0	PP1RA_HUMAN	S	285	ENSP00000365694:P285S	ENSP00000365694:P285S	P	-	1	0	PPP1R10	30681679	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.305000	0.89960	2.671000	0.90904	0.650000	0.86243	CCT	PPP1R10	-	NULL	ENSG00000204569		0.458	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2		0.00	94	0	G	NM_002714	Missense_Mutation	30573700	-1			no_errors	ENST00000376511	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A
PRKDC	5591	genome.wustl.edu	37	8	48733437	48733437	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr8:48733437G>A	ENST00000314191.2	-	67	9232	c.9176C>T	c.(9175-9177)tCc>tTc	p.S3059F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S3059F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3060	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTCAGCAGGGACTGGTCAGC	0.463								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													66.0	65.0	65.0					8																	48733437		1922	4148	6070	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9176C>T	8.37:g.48733437G>A	ENSP00000313420:p.Ser3059Phe		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S3059F	ENST00000314191.2	37	c.9176		8	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767610	0.69878	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02944	4.17;4.1	5.16	5.16	0.70880	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.303951	0.30003	N	0.010644	T	0.12390	0.0301	M	0.66939	2.045	0.36956	D	0.893125	P;P	0.52316	0.952;0.952	P;P	0.57776	0.761;0.827	T	0.01045	-1.1470	10	0.59425	D	0.04	.	19.0225	0.92920	0.0:0.0:1.0:0.0	.	3059;3060	E7EUY0;P78527	.;PRKDC_HUMAN	F	3059	ENSP00000313420:S3059F;ENSP00000345182:S3059F	ENSP00000313420:S3059F	S	-	2	0	PRKDC	48895990	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	6.122000	0.71608	2.548000	0.85928	0.650000	0.86243	TCC	PRKDC	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000253729		0.463	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0.00	58	0	G	NM_001081640		48733437	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	28.57	60	24	SNP	0.998	A
PRMT2	3275	genome.wustl.edu	37	21	48069656	48069656	+	Intron	SNP	G	G	C	rs201228495		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr21:48069656G>C	ENST00000397637.1	+	6	1608				PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000397638.2_Intron|PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000355680.3_Intron|PRMT2_ENST00000397628.1_Missense_Mutation_p.R220T|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000334494.4_Intron|PRMT2_ENST00000458387.2_Intron			P55345	ANM2_HUMAN	protein arginine methyltransferase 2						developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CTGCTGGTGAGGGCGGGCGTG	0.647																																																	0													57.0	39.0	45.0					21																	48069656		2203	4300	6503	SO:0001627	intron_variant	0			U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.654+5G>C	21.37:g.48069656G>C			B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.R220T	ENST00000397637.1	37	c.659	CCDS13737.1	21	.	.	.	.	.	.	.	.	.	.	.	7.222	0.597650	0.13875	.	.	ENSG00000160310	ENST00000397628	T	0.64085	-0.08	2.95	2.03	0.26663	.	.	.	.	.	T	0.67059	0.2853	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66771	-0.5839	6	0.87932	D	0	.	7.8084	0.29217	0.0:0.2598:0.7402:0.0	.	.	.	.	T	220	ENSP00000380752:R220T	ENSP00000380752:R220T	R	+	2	0	PRMT2	46894084	0.967000	0.33354	0.614000	0.29051	0.273000	0.26683	1.119000	0.31258	0.558000	0.29135	0.563000	0.77884	AGG	PRMT2	-	NULL	ENSG00000160310		0.647	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRMT2	HGNC	protein_coding	OTTHUMT00000207401.1	-	0.00	45	0	G	NM_001535		48069656	+1	tier1	-	no_errors	ENST00000397628	ensembl	human	putative	74_37	missense	42.86	40	30	SNP	0.747	C
PRR3	80742	genome.wustl.edu	37	6	30531428	30531428	+	3'UTR	DEL	T	T	-	rs563052704	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:30531428delT	ENST00000376560.3	+	0	2182				PRR3_ENST00000376557.3_3'UTR|PRR3_ENST00000498336.1_3'UTR	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						GAGAATGAGGttttttttttt	0.378													|||unknown(HR)	449	0.0896565	0.1483	0.0807	5008	,	,		17388	0.0665		0.0865	False		,,,				2504	0.044																0																																										SO:0001624	3_prime_UTR_variant	0			AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"""Zinc fingers, CCCH-type domain containing"""	21149	protein-coding gene	gene with protein product			"""proline-rich polpeptide 3"""				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.*1156T>-	6.37:g.30531428delT			A1A4H4|Q5RJB5|Q5STN6	RNA	DEL	-	NULL	ENST00000376560.3	37	NULL	CCDS43440.1	6																																																																																			PRR3	-	-	ENSG00000204576		0.378	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR3	HGNC	protein_coding	OTTHUMT00000076033.2		0.00	27	0	T	NM_025263		30531428	+1	tier1		no_errors	ENST00000481741	ensembl	human	known	74_37	rna	11.11	24	3	DEL	0.005	-
PTER	9317	genome.wustl.edu	37	10	16553247	16553247	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr10:16553247T>G	ENST00000378000.1	+	6	1288	c.1042T>G	c.(1042-1044)Ttc>Gtc	p.F348V	PTER_ENST00000423462.2_Missense_Mutation_p.F301V|PTER_ENST00000298942.3_Missense_Mutation_p.F348V|PTER_ENST00000535784.2_Missense_Mutation_p.F348V	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	348					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						ATGGCTAACTTTCAAATAGGA	0.368																																					Ovarian(2;46 150 15648 38137 47908)												0													120.0	119.0	119.0					10																	16553247		2203	4300	6503	SO:0001583	missense	0			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.1042T>G	10.37:g.16553247T>G	ENSP00000367239:p.Phe348Val		B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	pfam_Aryldialkylphosphatase,pfam_TatD_family	p.F348V	ENST00000378000.1	37	c.1042	CCDS7111.1	10	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648285	0.67358	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.78801	2.425	0.80722	D	1	P;P	0.45044	0.849;0.803	B;B	0.43623	0.425;0.397	T	0.57106	-0.7868	10	0.52906	T	0.07	-24.9134	16.3782	0.83418	0.0:0.0:0.0:1.0	.	301;348	Q96BW5-2;Q96BW5	.;PTER_HUMAN	V	348;348;301;348;348	ENSP00000439485:F348V;ENSP00000389535:F301V;ENSP00000367239:F348V;ENSP00000298942:F348V	ENSP00000298942:F348V	F	+	1	0	PTER	16593253	1.000000	0.71417	0.995000	0.50966	0.604000	0.37047	7.499000	0.81566	2.277000	0.76020	0.528000	0.53228	TTC	PTER	-	NULL	ENSG00000165983		0.368	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTER	HGNC	protein_coding	OTTHUMT00000047001.2	-	0.00	41	0	T	NM_030664		16553247	+1	tier1	-	no_errors	ENST00000298942	ensembl	human	known	74_37	missense	53.85	18	21	SNP	1.000	G
PTPLA	9200	genome.wustl.edu	37	10	17646048	17646049	+	Splice_Site	INS	-	-	A	rs76004443		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr10:17646048_17646049insA	ENST00000361271.3	-	2	295		c.e2-2			NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A						fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						ACCAACCACCTAAAAAAAAAAA	0.297																																																	0																																										SO:0001630	splice_region_variant	0			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.258-2->T	10.37:g.17646059_17646059dupA			B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Splice_Site	INS	-	e2-2	ENST00000361271.3	37	c.258-3_258-2	CCDS7121.1	10																																																																																			PTPLA	-	-	ENSG00000165996		0.297	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLA	HGNC	protein_coding	OTTHUMT00000047046.1		0.00	30	0	-	NM_014241	Intron	17646049	-1	tier1		no_errors	ENST00000361271	ensembl	human	known	74_37	splice_site_ins	7.41	25	2	INS	1.000:0.005	A
PTPRQ	374462	genome.wustl.edu	37	12	80982225	80982225	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr12:80982225C>T	ENST00000266688.5	+	31	4591	c.4591C>T	c.(4591-4593)Cct>Tct	p.P1531S	RP11-272K23.3_ENST00000550634.1_RNA			Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1577	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						AAAAACTCTGCCTGGCCGTGA	0.353																																																	0													103.0	88.0	93.0					12																	80982225		692	1591	2283	SO:0001583	missense	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.4591C>T	12.37:g.80982225C>T	ENSP00000266688:p.Pro1531Ser			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.P1531S	ENST00000266688.5	37	c.4591		12	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340507	0.60963	.	.	ENSG00000139304	ENST00000266688	T	0.55930	0.49	5.35	4.46	0.54185	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44307	0.1287	.	.	.	0.38506	D	0.948347	D	0.56521	0.976	P	0.47206	0.541	T	0.38222	-0.9671	8	0.08599	T	0.76	.	14.444	0.67338	0.0:0.9287:0.0:0.0713	.	1577	Q9UMZ3	PTPRQ_HUMAN	S	1531	ENSP00000266688:P1531S	ENSP00000266688:P1531S	P	+	1	0	PTPRQ	79506356	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	2.165000	0.42396	1.400000	0.46741	0.655000	0.94253	CCT	PTPRQ	-	superfamily_Fibronectin_type3	ENSG00000139304		0.353	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		-	0.00	33	0	C	NM_001145026		80982225	+1	tier1	-	no_errors	ENST00000266688	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T
PTTG1IP	754	genome.wustl.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-	rs375347383		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616																																																	0																																										SO:0001651	inframe_deletion	0			AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.361_363delTGC	21.37:g.46276203_46276205delGCA	ENSP00000328325:p.Cys121del		B2RDP7|D3DSL9|Q9NS09	In_Frame_Del	DEL	smart_Plexin-like_fold	p.C121in_frame_del	ENST00000330938.3	37	c.363_361	CCDS13715.1	21																																																																																			PTTG1IP	-	NULL	ENSG00000183255		0.616	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTTG1IP	HGNC	protein_coding	OTTHUMT00000206553.1		0.00	40	0	GCA			46276196	-1	tier1		no_errors	ENST00000330938	ensembl	human	known	74_37	in_frame_del	6.67	42	3	DEL	1.000:1.000:1.000	-
PUM1	9698	genome.wustl.edu	37	1	31418206	31418206	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:31418206G>A	ENST00000257075.5	-	18	3068	c.2975C>T	c.(2974-2976)gCg>gTg	p.A992V	PUM1_ENST00000440538.2_Missense_Mutation_p.A968V|PUM1_ENST00000423018.2_Missense_Mutation_p.A850V|PUM1_ENST00000424085.2_Missense_Mutation_p.A750V|PUM1_ENST00000373741.4_Missense_Mutation_p.A1030V|PUM1_ENST00000373742.2_Missense_Mutation_p.A933V|PUM1_ENST00000426105.2_Missense_Mutation_p.A994V|PUM1_ENST00000373747.3_Missense_Mutation_p.A995V	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	992	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCCCTTAAACGCATCGATGAT	0.408																																																	0													133.0	125.0	128.0					1																	31418206		2203	4300	6503	SO:0001583	missense	0			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2975C>T	1.37:g.31418206G>A	ENSP00000257075:p.Ala992Val		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.A994V	ENST00000257075.5	37	c.2981	CCDS338.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.187786	0.94923	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846	T;T;T;T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.097698	0.64402	D	0.000001	T	0.53110	0.1776	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.981;0.999;0.998;0.989;0.998;1.0	P;D;P;P;P;P;P;D	0.72338	0.849;0.913;0.612;0.845;0.849;0.719;0.849;0.977	T	0.65689	-0.6107	10	0.87932	D	0	-5.9052	18.5995	0.91242	0.0:0.0:1.0:0.0	.	933;850;1030;968;992;994;995;994	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.;.	V	750;992;995;732;994;968;1030;850;933;145	ENSP00000400141:A750V;ENSP00000257075:A992V;ENSP00000362852:A995V;ENSP00000391723:A994V;ENSP00000401777:A968V;ENSP00000362846:A1030V;ENSP00000399440:A850V;ENSP00000362847:A933V;ENSP00000431213:A145V	ENSP00000257075:A992V	A	-	2	0	PUM1	31190793	1.000000	0.71417	0.969000	0.41365	0.811000	0.45836	9.657000	0.98554	2.622000	0.88805	0.650000	0.86243	GCG	PUM1	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	ENSG00000134644		0.408	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1		0.00	50	0	G			31418206	-1			no_errors	ENST00000426105	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
RAB32	10981	genome.wustl.edu	37	6	146870631	146870632	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:146870631_146870632insT	ENST00000367495.3	+	2	461_462	c.282_283insT	c.(283-285)tacfs	p.Y95fs		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	95					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		TGACCCGAGTATACTACAAGGA	0.361																																																	0																																										SO:0001589	frameshift_variant	0			U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.283dupT	6.37:g.146870632_146870632dupT	ENSP00000356465:p.Tyr95fs			Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,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.Y94fs	ENST00000367495.3	37	c.282_283	CCDS5210.1	6																																																																																			RAB32	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000118508		0.361	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB32	HGNC	protein_coding	OTTHUMT00000042579.1		0.00	86	0	-	NM_006834		146870632	+1	tier1		no_errors	ENST00000367495	ensembl	human	known	74_37	frame_shift_ins	32.88	49	24	INS	0.036:0.999	T
RAB36	9609	genome.wustl.edu	37	22	23503091	23503091	+	Silent	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr22:23503091C>T	ENST00000263116.2	+	10	883	c.843C>T	c.(841-843)agC>agT	p.S281S	RAB36_ENST00000341989.4_Silent_p.S259S	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	281					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CATTCTTCAGCCGCGTAGCCG	0.602																																																	0													75.0	65.0	69.0					22																	23503091		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.843C>T	22.37:g.23503091C>T			Q2M390|Q7Z4A9|Q9UHP5	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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.S281	ENST00000263116.2	37	c.843	CCDS13805.1	22																																																																																			RAB36	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000100228		0.602	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB36	HGNC	protein_coding	OTTHUMT00000319046.1		0.00	38	0	C	NM_004914		23503091	+1			no_errors	ENST00000263116	ensembl	human	known	74_37	silent	9.38	29	3	SNP	1.000	T
RAB3C	115827	genome.wustl.edu	37	5	58021834	58021834	+	Silent	SNP	A	A	C			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:58021834A>C	ENST00000282878.4	+	3	427	c.258A>C	c.(256-258)acA>acC	p.T86T	RAB3C_ENST00000507977.1_3'UTR	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	86					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TTTAGGACACAGCAGGCCAGG	0.343																																																	0													131.0	128.0	129.0					5																	58021834		2203	4299	6502	SO:0001819	synonymous_variant	0			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.258A>C	5.37:g.58021834A>C				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,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.T86	ENST00000282878.4	37	c.258	CCDS3976.1	5																																																																																			RAB3C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000152932		0.343	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3C	HGNC	protein_coding	OTTHUMT00000214156.2	-	0.00	31	0	A	NM_138453		58021834	+1	tier1	-	no_errors	ENST00000282878	ensembl	human	known	74_37	silent	55.00	18	22	SNP	1.000	C
REV3L	5980	genome.wustl.edu	37	6	111654555	111654555	+	Missense_Mutation	SNP	T	T	C	rs368840674		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:111654555T>C	ENST00000358835.3	-	24	8150	c.7696A>G	c.(7696-7698)Atg>Gtg	p.M2566V	REV3L_ENST00000435970.1_Missense_Mutation_p.M2488V|REV3L_ENST00000368802.3_Missense_Mutation_p.M2566V|REV3L_ENST00000368805.1_Missense_Mutation_p.M2566V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2566					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CGCAACATCATTGATTCCACA	0.388								DNA polymerases (catalytic subunits)																																									0													80.0	78.0	79.0					6																	111654555		2203	4300	6503	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.7696A>G	6.37:g.111654555T>C	ENSP00000351697:p.Met2566Val		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.M2566V	ENST00000358835.3	37	c.7696	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172701	0.57584	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.40476	2.37;2.37;2.37;1.03	5.78	5.78	0.91487	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.215054	0.51477	D	0.000084	T	0.36358	0.0964	L	0.53561	1.675	0.50039	D	0.999844	B	0.32653	0.379	B	0.44224	0.444	T	0.40270	-0.9572	10	0.59425	D	0.04	-6.3593	11.9473	0.52936	0.0:0.0694:0.0:0.9306	.	2566	O60673	DPOLZ_HUMAN	V	2566;2566;2566;2488;639	ENSP00000357792:M2566V;ENSP00000357795:M2566V;ENSP00000351697:M2566V;ENSP00000402003:M2488V	ENSP00000351697:M2566V	M	-	1	0	REV3L	111761248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.294000	0.72738	2.191000	0.70037	0.528000	0.53228	ATG	REV3L	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B	ENSG00000009413		0.388	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0.00	53	0	T	NM_002912		111654555	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	27.27	40	15	SNP	1.000	C
RS1	6247	genome.wustl.edu	37	X	18665389	18665389	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chrX:18665389C>T	ENST00000379984.3	-	4	288	c.248G>A	c.(247-249)tGc>tAc	p.C83Y	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	83	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CGGGTTAGAGCAGGTGATCTG	0.522																																																	0													96.0	87.0	90.0					X																	18665389		2203	4300	6503	SO:0001583	missense	0			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.248G>A	X.37:g.18665389C>T	ENSP00000369320:p.Cys83Tyr		Q0QD39	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.C83Y	ENST00000379984.3	37	c.248	CCDS14187.1	X	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715087	0.89112	.	.	ENSG00000102104	ENST00000379984	D	0.98914	-5.23	5.43	5.43	0.79202	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99914	1.1214	10	0.87932	D	0	.	18.3184	0.90229	0.0:1.0:0.0:0.0	.	83	O15537	XLRS1_HUMAN	Y	83	ENSP00000369320:C83Y	ENSP00000369320:C83Y	C	-	2	0	RS1	18575310	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.484000	0.81180	2.265000	0.75225	0.523000	0.50628	TGC	RS1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000102104		0.522	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RS1	HGNC	protein_coding	OTTHUMT00000055949.1	-	0.00	44	0	C			18665389	-1	tier1	-	no_errors	ENST00000379984	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T
S100PBP	64766	genome.wustl.edu	37	1	33292385	33292385	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:33292385C>T	ENST00000373475.5	+	3	939	c.685C>T	c.(685-687)Cct>Tct	p.P229S	S100PBP_ENST00000398243.3_Missense_Mutation_p.P229S|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.P229S	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TAAAAATATGCCTGACAGTGA	0.448																																																	0													73.0	76.0	75.0					1																	33292385		2203	4300	6503	SO:0001583	missense	0			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.685C>T	1.37:g.33292385C>T	ENSP00000362574:p.Pro229Ser			Missense_Mutation	SNP	NULL	p.P229S	ENST00000373475.5	37	c.685	CCDS30666.1	1	.	.	.	.	.	.	.	.	.	.	C	3.529	-0.096200	0.07010	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689	.	.	.	5.63	1.53	0.23141	.	0.645747	0.15312	N	0.269015	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.12156	0.007;0.005	T	0.19647	-1.0299	8	.	.	.	-0.142	2.0177	0.03501	0.1615:0.504:0.1564:0.1782	.	229;229	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	S	229	.	.	P	+	1	0	S100PBP	33064972	0.000000	0.05858	0.504000	0.27639	0.138000	0.21146	-0.878000	0.04192	0.094000	0.17404	-0.150000	0.13652	CCT	S100PBP	-	NULL	ENSG00000116497		0.448	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100PBP	HGNC	protein_coding	OTTHUMT00000011266.1	-	0.00	29	0	C	NM_022753		33292385	+1	tier1	-	no_errors	ENST00000373475	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.009	T
SCAI	286205	genome.wustl.edu	37	9	127765857	127765857	+	Intron	DEL	A	A	-	rs559723416	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr9:127765857delA	ENST00000336505.6	-	10	920				SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Intron	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						AACCTGCAAGAAAAAAAAAAA	0.383														81	0.0161741	0.0257	0.0086	5008	,	,		19597	0.0079		0.0129	False		,,,				2504	0.0204																0									,	87,222,287,3002		4,0,0,79,3,1,215,3,280,1214	60.0	56.0	57.0		,	-0.2	0.1	9		61	157,575,641,6495		3,0,0,151,4,1,566,2,636,2571	no	intron,intron	SCAI	NM_173690.4,NM_001144877.2	,	7,0,0,230,7,2,781,5,916,3785	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		17.4504,16.5648,17.1725	,	,	127765857	244,797,928,9497	1878	4121	5999	SO:0001627	intron_variant	0			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.862-8T>-	9.37:g.127765857delA			Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	RNA	DEL	-	NULL	ENST00000336505.6	37	NULL	CCDS48017.1	9																																																																																			SCAI	-	-	ENSG00000173611		0.383	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAI	HGNC	protein_coding	OTTHUMT00000054055.3		0.00	24	0	A	NM_173690		127765857	-1	tier1		no_errors	ENST00000487795	ensembl	human	known	74_37	rna	7.84	47	4	DEL	0.025	-
SCD	6319	genome.wustl.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	ACC	ACC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr10:102107836_102107838delACC	ENST00000370355.2	+	2	424_426	c.43_45delACC	c.(43-45)accdel	p.T19del	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	19					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581																																					Colon(67;260 1459 9574 11663)												0																																										SO:0001651	inframe_deletion	0			AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.43_45delACC	10.37:g.102107845_102107847delACC	ENSP00000359380:p.Thr19del		B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	In_Frame_Del	DEL	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.T18in_frame_del	ENST00000370355.2	37	c.43_45	CCDS7493.1	10																																																																																			SCD	-	NULL	ENSG00000099194		0.581	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD	HGNC	protein_coding	OTTHUMT00000049857.2		0.00	20	0	ACC	NM_005063		102107838	+1	tier1		no_errors	ENST00000370355	ensembl	human	known	74_37	in_frame_del	7.41	25	2	DEL	0.998:0.990:0.094	-
SCN4A	6329	genome.wustl.edu	37	17	62022996	62022996	+	Silent	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr17:62022996C>T	ENST00000435607.1	-	19	3520	c.3444G>A	c.(3442-3444)gtG>gtA	p.V1148V	SCN4A_ENST00000578147.1_Silent_p.V1148V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1148					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTTCACCACCACCTGGGGGC	0.607																																																	0													89.0	95.0	93.0					17																	62022996		2194	4297	6491	SO:0001819	synonymous_variant	0			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3444G>A	17.37:g.62022996C>T			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.V1148	ENST00000435607.1	37	c.3444	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom	ENSG00000007314		0.607	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		-	0.00	36	0	C	NM_000334		62022996	-1	tier1	-	no_errors	ENST00000435607	ensembl	human	known	74_37	silent	70.00	6	14	SNP	1.000	T
SEC14L1	6397	genome.wustl.edu	37	17	75210142	75210142	+	3'UTR	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr17:75210142G>A	ENST00000413679.2	+	0	2488				SEC14L1_ENST00000585618.1_3'UTR|SEC14L1_ENST00000591437.1_3'UTR|SEC14L1_ENST00000392476.2_Intron|SEC14L1_ENST00000443798.4_Intron|SEC14L1_ENST00000436233.4_3'UTR|SEC14L1_ENST00000431431.2_3'UTR|SEC14L1_ENST00000430767.4_3'UTR	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)						transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGAGGGGACGGCCGCCCCTCC	0.627																																																	0													26.0	24.0	25.0					17																	75210142		2200	4298	6498	SO:0001624	3_prime_UTR_variant	0			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.*37G>A	17.37:g.75210142G>A			A8K4E8|B4DDI5|D5G3K1|Q99780	RNA	SNP	-	NULL	ENST00000413679.2	37	NULL	CCDS11752.1	17																																																																																			SEC14L1	-	-	ENSG00000129657		0.627	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	-	0.00	43	0	G	NM_003003		75210142	+1	tier1	-	no_errors	ENST00000588721	ensembl	human	known	74_37	rna	47.73	23	21	SNP	0.284	A
SENP6	26054	genome.wustl.edu	37	6	76388386	76388386	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:76388386A>G	ENST00000447266.2	+	15	2414	c.1936A>G	c.(1936-1938)Atc>Gtc	p.I646V	SENP6_ENST00000370010.2_Missense_Mutation_p.I639V|SENP6_ENST00000541192.1_Missense_Mutation_p.I242V|SENP6_ENST00000327284.8_Missense_Mutation_p.I639V|SENP6_ENST00000370014.3_Missense_Mutation_p.I646V	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	646					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AAACCACACCATCTTCATTGG	0.303																																																	0													131.0	124.0	126.0					6																	76388386		1797	4081	5878	SO:0001583	missense	0				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1936A>G	6.37:g.76388386A>G	ENSP00000402527:p.Ile646Val		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.I646V	ENST00000447266.2	37	c.1936	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	A	0.057	-1.233878	0.01505	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.71	3.35	0.38373	.	0.282386	0.39341	N	0.001383	T	0.02649	0.0080	N	0.02736	-0.51	0.26714	N	0.970906	B;B;B	0.13594	0.002;0.0;0.008	B;B;B	0.12156	0.007;0.002;0.007	T	0.43814	-0.9368	10	0.08599	T	0.76	-4.753	4.6152	0.12422	0.5512:0.0:0.4488:0.0	.	639;646;639	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	V	639;646;639;646;536;242	ENSP00000359027:I639V;ENSP00000359031:I646V;ENSP00000321820:I639V;ENSP00000402527:I646V;ENSP00000391426:I536V;ENSP00000441715:I242V	ENSP00000321820:I639V	I	+	1	0	SENP6	76445106	1.000000	0.71417	0.959000	0.39883	0.307000	0.27823	4.258000	0.58822	0.983000	0.38602	-0.290000	0.09829	ATC	SENP6	-	NULL	ENSG00000112701		0.303	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	-	0.00	63	0	A	NM_015571		76388386	+1	tier1	-	no_errors	ENST00000370014	ensembl	human	known	74_37	missense	39.22	31	20	SNP	0.988	G
SLCO6A1	133482	genome.wustl.edu	37	5	101735276	101735276	+	Silent	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:101735276G>T	ENST00000506729.1	-	10	1968	c.1797C>A	c.(1795-1797)atC>atA	p.I599I	SLCO6A1_ENST00000379810.1_Silent_p.I346I|SLCO6A1_ENST00000379807.3_Silent_p.I599I|SLCO6A1_ENST00000389019.3_Silent_p.I537I|SLCO6A1_ENST00000513675.1_Silent_p.I346I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	599						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGGCCAAGACGATTGGTACAC	0.308																																																	0													76.0	73.0	74.0					5																	101735276		2203	4300	6503	SO:0001819	synonymous_variant	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1797C>A	5.37:g.101735276G>T			A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.I599	ENST00000506729.1	37	c.1797	CCDS34206.1	5																																																																																			SLCO6A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000205359		0.308	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1		0.00	48	0	G	NM_173488		101735276	-1			no_errors	ENST00000379807	ensembl	human	known	74_37	silent	6.38	44	3	SNP	0.000	T
MTCL1	23255	genome.wustl.edu	37	18	8793003	8793004	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr18:8793003_8793004insC	ENST00000359865.3	+	8	2037_2038	c.1895_1896insC	c.(1894-1899)ggccccfs	p.GP632fs	SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306329.11_Intron	NM_015210.3	NP_056025.2												p.G632A(1)									CAGCTCAGGGGCCCCCCCGTTT	0.554																																																	1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0																														ENST00000359865.3:c.1902dupC	18.37:g.8793010_8793010dupC	ENSP00000352927:p.Gly632fs			Frame_Shift_Ins	INS	pfam_SOGA	p.V635fs	ENST00000359865.3	37	c.1895_1896	CCDS11841.1	18																																																																																			SOGA2	-	NULL	ENSG00000168502		0.554	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000254476.1		0.00	24	0	-			8793004	+1	tier1		no_errors	ENST00000359865	ensembl	human	known	74_37	frame_shift_ins	34.29	23	12	INS	0.026:0.015	C
SOWAHD	347454	genome.wustl.edu	37	X	118893519	118893519	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chrX:118893519C>T	ENST00000343905.3	+	1	944	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	297																	CGCGGGCAGCCGGGTGGCGCA	0.652																																																	0													14.0	18.0	17.0					X																	118893519		2125	4145	6270	SO:0001583	missense	0				CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"""Ankyrin repeat domain containing"""	32960	protein-coding gene	gene with protein product			"""ankyrin repeat domain 58"""	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.889C>T	X.37:g.118893519C>T	ENSP00000340975:p.Arg297Trp			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R297W	ENST00000343905.3	37	c.889	CCDS43984.1	X	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762922	0.49574	.	.	ENSG00000187808	ENST00000343905	T	0.14893	2.47	3.89	2.02	0.26589	.	.	.	.	.	T	0.13114	0.0318	L	0.36672	1.1	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.24333	-1.0163	9	0.72032	D	0.01	-3.1661	6.6898	0.23165	0.2021:0.6056:0.1923:0.0	.	297	A6NJG2	ANR58_HUMAN	W	297	ENSP00000340975:R297W	ENSP00000340975:R297W	R	+	1	2	ANKRD58	118777547	0.000000	0.05858	0.001000	0.08648	0.104000	0.19210	-0.141000	0.10327	0.248000	0.21435	0.436000	0.28706	CGG	SOWAHD	-	NULL	ENSG00000187808		0.652	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOWAHD	HGNC	protein_coding	OTTHUMT00000356469.1	-	0.00	17	0	C	NM_001105576		118893519	+1	tier1	-	no_errors	ENST00000343905	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.001	T
SPATA16	83893	genome.wustl.edu	37	3	172835311	172835311	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:172835311C>A	ENST00000351008.3	-	2	394	c.211G>T	c.(211-213)Gaa>Taa	p.E71*		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	71					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTTGTTTTTCTTTGATGCCC	0.368																																																	0													350.0	331.0	337.0					3																	172835311		2203	4300	6503	SO:0001587	stop_gained	0			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.211G>T	3.37:g.172835311C>A	ENSP00000341765:p.Glu71*		Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Nonsense_Mutation	SNP	NULL	p.E71*	ENST00000351008.3	37	c.211	CCDS3221.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.600516	0.97697	.	.	ENSG00000144962	ENST00000351008	.	.	.	5.27	4.4	0.53042	.	0.000000	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.3152	12.1262	0.53919	0.0:0.9197:0.0:0.0803	.	.	.	.	X	71	.	ENSP00000341765:E71X	E	-	1	0	SPATA16	174318005	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.234000	0.32660	1.215000	0.43411	0.650000	0.86243	GAA	SPATA16	-	NULL	ENSG00000144962		0.368	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA16	HGNC	protein_coding	OTTHUMT00000346322.1	-	0.00	65	0	C	NM_031955		172835311	-1	tier1	-	no_errors	ENST00000351008	ensembl	human	known	74_37	nonsense	24.18	69	22	SNP	1.000	A
STAMBP	10617	genome.wustl.edu	37	2	74072312	74072312	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:74072312T>C	ENST00000394070.2	+	4	801	c.298T>C	c.(298-300)Ttt>Ctt	p.F100L	STAMBP_ENST00000409707.1_Missense_Mutation_p.F100L|STAMBP_ENST00000536064.1_Missense_Mutation_p.F100L|STAMBP_ENST00000339566.3_Missense_Mutation_p.F100L|STAMBP_ENST00000394073.1_Missense_Mutation_p.F100L	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	100	Interaction with CHMP3.		F -> Y (in MICCAP). {ECO:0000269|PubMed:23542699}.		JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GGAGATTGCATTTCCCAAAGC	0.333																																																	0													56.0	58.0	57.0					2																	74072312		2203	4300	6503	SO:0001583	missense	0			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.298T>C	2.37:g.74072312T>C	ENSP00000377633:p.Phe100Leu		B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.F100L	ENST00000394070.2	37	c.298	CCDS1929.1	2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.470630	0.84533	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000452725;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.40476	2.06;2.06;2.01;2.06;2.06;1.03	5.52	5.52	0.82312	.	0.046991	0.85682	D	0.000000	T	0.53706	0.1813	L	0.43646	1.37	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.44452	-0.9327	10	0.23891	T	0.37	-5.9945	14.764	0.69626	0.0:0.0:0.0:1.0	.	100	O95630	STABP_HUMAN	L	100	ENSP00000344742:F100L;ENSP00000386548:F100L;ENSP00000413874:F100L;ENSP00000377636:F100L;ENSP00000377633:F100L;ENSP00000443502:F100L	ENSP00000344742:F100L	F	+	1	0	STAMBP	73925820	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.203000	0.77864	2.320000	0.78422	0.528000	0.53228	TTT	STAMBP	-	NULL	ENSG00000124356		0.333	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBP	HGNC	protein_coding	OTTHUMT00000252048.2	-	0.00	55	0	T	NM_006463		74072312	+1	tier1	-	no_errors	ENST00000339566	ensembl	human	known	74_37	missense	41.67	28	20	SNP	1.000	C
SYT11	23208	genome.wustl.edu	37	1	155838231	155838231	+	Silent	SNP	G	G	T	rs148825060	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:155838231G>T	ENST00000368324.4	+	2	763	c.510G>T	c.(508-510)ccG>ccT	p.P170P	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	170					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ATAACTTCCCGAAAAAAGCCC	0.542																																																	0													58.0	59.0	59.0					1																	155838231		2203	4300	6503	SO:0001819	synonymous_variant	0			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.510G>T	1.37:g.155838231G>T			Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.P170	ENST00000368324.4	37	c.510	CCDS1122.1	1																																																																																			SYT11	-	superfamily_C2_dom,prints_Synaptotagmin	ENSG00000132718		0.542	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1		0.00	22	0	G	NM_152280		155838231	+1			no_errors	ENST00000368324	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.129	T
TAF1D	79101	genome.wustl.edu	37	11	93466281	93466281	+	IGR	SNP	T	T	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:93466281T>A	ENST00000448108.2	-	0	2082				SNORD6_ENST00000365444.1_RNA|SNORA32_ENST00000384072.1_RNA|SNORA8_ENST00000384574.1_RNA|MIR1304_ENST00000408243.1_RNA|SNORA1_ENST00000384107.1_RNA|SNORA18_ENST00000384416.1_RNA|SNORA40_ENST00000388090.1_RNA|TAF1D_ENST00000546088.1_5'UTR|SNORD5_ENST00000459342.1_RNA|SNORA25_ENST00000384384.1_RNA	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TCAAATCACATTCATTCCTAT	0.264																																																	0																																										SO:0001628	intergenic_variant	0				CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451		11.37:g.93466281T>A			Q6I9Y6	RNA	SNP	-	NULL	ENST00000448108.2	37	NULL	CCDS8293.1	11																																																																																			TAF1D	-	-	ENSG00000166012		0.264	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1D	HGNC	protein_coding	OTTHUMT00000394662.2	-	0.00	86	0	T	NM_024116		93466281	-1	tier1	-	no_errors	ENST00000530089	ensembl	human	known	74_37	rna	44.29	39	31	SNP	0.000	A
TDRD3	81550	genome.wustl.edu	37	13	61034813	61034813	+	Intron	SNP	T	T	G			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr13:61034813T>G	ENST00000196169.3	+	4	862				TDRD3_ENST00000377881.2_Intron|TDRD3_ENST00000463109.1_3'UTR|TDRD3_ENST00000535286.1_Intron|TDRD3_ENST00000377894.2_Intron	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3						chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ATAGAGCTTTTCTGCATTTCT	0.393																																					Colon(36;164 906 35820 50723)												0																																										SO:0001627	intron_variant	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.74+139T>G	13.37:g.61034813T>G			B2MWP9|Q53XA6|Q6P992	RNA	SNP	-	NULL	ENST00000196169.3	37	NULL	CCDS9441.1	13																																																																																			TDRD3	-	-	ENSG00000083544		0.393	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	-	0.00	24	0	T	NM_030794		61034813	+1	tier1	-	no_errors	ENST00000463109	ensembl	human	known	74_37	rna	36.84	12	7	SNP	0.274	G
TGIF1	7050	genome.wustl.edu	37	18	3456685	3456685	+	Intron	SNP	A	A	G			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr18:3456685A>G	ENST00000330513.5	+	2	933				TGIF1_ENST00000400167.2_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000472042.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000551402.1_Missense_Mutation_p.K117R|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000551541.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1						determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CAAAGACAGAAGGAATATCTT	0.343																																																	0																																										SO:0001627	intron_variant	0			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.630+107A>G	18.37:g.3456685A>G			A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Homeobox_dom	p.K117R	ENST00000330513.5	37	c.350	CCDS11834.1	18	.	.	.	.	.	.	.	.	.	.	A	0.073	-1.198232	0.01594	.	.	ENSG00000177426	ENST00000551402	T	0.52526	0.66	5.78	-0.0957	0.13640	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.18873	N	0.999982	B	0.11235	0.004	B	0.12156	0.007	T	0.21586	-1.0241	7	.	.	.	.	5.9214	0.19084	0.6043:0.1335:0.2623:0.0	.	117	F8W1J9	.	R	117	ENSP00000446944:K117R	.	K	+	2	0	TGIF1	3446685	0.000000	0.05858	0.000000	0.03702	0.770000	0.43624	-0.086000	0.11233	0.062000	0.16340	0.533000	0.62120	AAG	TGIF1	-	NULL	ENSG00000177426		0.343	TGIF1-003	KNOWN	basic|CCDS	protein_coding	TGIF1	HGNC	protein_coding	OTTHUMT00000254368.4		0.00	20	0	A	NM_170695		3456685	+1			no_errors	ENST00000551402	ensembl	human	putative	74_37	missense	32.00	17	8	SNP	0.000	G
TJAP1	93643	genome.wustl.edu	37	6	43469320	43469320	+	Missense_Mutation	SNP	G	G	A	rs370044590	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:43469320G>A	ENST00000372445.5	+	6	561	c.185G>A	c.(184-186)cGc>cAc	p.R62H	TJAP1_ENST00000438588.2_Missense_Mutation_p.R62H|TJAP1_ENST00000372444.2_Missense_Mutation_p.R62H|TJAP1_ENST00000436109.2_Missense_Mutation_p.R62H|TJAP1_ENST00000259751.1_Missense_Mutation_p.R62H|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372452.1_Missense_Mutation_p.R62H|TJAP1_ENST00000372449.1_Missense_Mutation_p.R62H	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	62					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCCACCAGACGCACTGAGGCC	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		16230	0.002		0.0	False		,,,				2504	0.0																0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	39.0	43.0	42.0		185,185,185,185,185,185	5.1	1.0	6		42	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense	TJAP1	NM_001146016.1,NM_001146017.1,NM_001146018.1,NM_001146019.1,NM_001146020.1,NM_080604.2	29,29,29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	62/558,62/558,62/548,62/548,62/548,62/548	43469320	2,13004	2203	4300	6503	SO:0001583	missense	0			AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.185G>A	6.37:g.43469320G>A	ENSP00000361522:p.Arg62His		Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	NULL	p.R62H	ENST00000372445.5	37	c.185	CCDS55004.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169017	0.78339	0.0	2.33E-4	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.08	5.08	0.68730	.	0.149133	0.42053	D	0.000774	T	0.75613	0.3873	L	0.34521	1.04	0.31852	N	0.622041	D;D;D	0.89917	0.975;1.0;0.999	P;D;D	0.83275	0.584;0.996;0.916	T	0.74569	-0.3622	10	0.38643	T	0.18	-7.1808	7.8378	0.29380	0.1422:0.0:0.8578:0.0	.	62;62;62	E2QRK7;Q5JTD0;Q5JTD0-2	.;TJAP1_HUMAN;.	H	62	ENSP00000361521:R62H;ENSP00000361522:R62H;ENSP00000407080:R62H;ENSP00000390981:R62H;ENSP00000259751:R62H;ENSP00000361530:R62H;ENSP00000361527:R62H;ENSP00000408769:R62H	ENSP00000259751:R62H	R	+	2	0	TJAP1	43577298	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.203000	0.65174	2.377000	0.81083	0.449000	0.29647	CGC	TJAP1	-	NULL	ENSG00000137221		0.597	TJAP1-202	KNOWN	basic|CCDS	protein_coding	TJAP1	HGNC	protein_coding	OTTHUMT00000040629.1	-	0.00	24	0	G	NM_080604		43469320	+1	tier1	-	no_errors	ENST00000372445	ensembl	human	known	74_37	missense	45.45	12	10	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Intron	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						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	GCAAACCAGACCTCAGGCGGC	0.527		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	GRCh37	CS071266	TP53	S							80.0	75.0	77.0					17																	7578176		2203	4300	6503	SO:0001630	splice_region_variant	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.672+1G>T	17.37:g.7578176C>A			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	Splice_Site	SNP	-	e5+1	ENST00000269305.4	37	c.672+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.	TP53	-	-	ENSG00000141510		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	44	0	C	NM_000546	Intron	7578176	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	79.41	7	27	SNP	1.000	A
TRMT10C	54931	genome.wustl.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:101284009delA	ENST00000309922.6	+	2	538	c.384delA	c.(382-384)gcafs	p.A128fs		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	128					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CTAACACAGCaaaaaaaaaat	0.343																																																	0										86,83,3215		3,0,80,1,81,1527	28.0	25.0	26.0			5.9	0.8	3		29	198,238,7170		8,1,181,6,225,3382	no	codingComplex	RG9MTD1	NM_017819.2		11,1,261,7,306,4909	A1A1,A1A2,A1R,A2A2,A2R,RR		5.7323,4.9941,5.505			101284009	284,321,10385	1781	4033	5814	SO:0001589	frameshift_variant	0			AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.384delA	3.37:g.101284009delA	ENSP00000312356:p.Ala128fs		Q9NRG5|Q9NX54|Q9Y596	Frame_Shift_Del	DEL	pfam_tRNA_m1G_MeTrfase	p.K131fs	ENST00000309922.6	37	c.384	CCDS43122.1	3																																																																																			TRMT10C	-	NULL	ENSG00000174173		0.343	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10C	HGNC	protein_coding	OTTHUMT00000353400.2		0.00	18	0	A	NM_017819		101284009	+1	tier1		no_errors	ENST00000309922	ensembl	human	known	74_37	frame_shift_del	9.68	28	3	DEL	0.514	-
TTC37	9652	genome.wustl.edu	37	5	94803579	94803579	+	Silent	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:94803579C>T	ENST00000358746.2	-	42	4909	c.4611G>A	c.(4609-4611)gaG>gaA	p.E1537E		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1537						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.E1537E(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CGTCAATAAGCTCATAGTCAT	0.333																																																	1	Substitution - coding silent(1)	endometrium(1)											121.0	110.0	114.0					5																	94803579		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4611G>A	5.37:g.94803579C>T			O15077|Q6PJI3	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E1537	ENST00000358746.2	37	c.4611	CCDS4072.1	5																																																																																			TTC37	-	NULL	ENSG00000198677		0.333	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC37	HGNC	protein_coding	OTTHUMT00000241651.1		0.00	22	0	C	NM_014639		94803579	-1			no_errors	ENST00000358746	ensembl	human	known	74_37	silent	5.88	32	2	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179647001	179647001	+	Silent	SNP	G	G	A	rs141768043		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:179647001G>A	ENST00000591111.1	-	20	3542	c.3318C>T	c.(3316-3318)ggC>ggT	p.G1106G	TTN_ENST00000342175.6_Silent_p.G1060G|TTN_ENST00000460472.2_Silent_p.G1060G|TTN_ENST00000359218.5_Silent_p.G1060G|TTN_ENST00000589042.1_Silent_p.G1106G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.G1106G|TTN_ENST00000360870.5_Silent_p.G1106G			Q8WZ42	TITIN_HUMAN	titin	33325	Ig-like 4.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGTTGCCGCCAACTTGGC	0.488																																																	0								G	,,,,	3,4403	6.2+/-15.9	0,3,2200	83.0	81.0	81.0		3180,3318,3318,3180,3180	-11.2	0.1	2	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,,,	1060/26927,1106/33424,1106/5605,1060/27052,1060/27119	179647001	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3318C>T	2.37:g.179647001G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G1106	ENST00000591111.1	37	c.3318		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	30	0	G	NM_133378		179647001	-1	tier1	rs141768043	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	37.84	23	14	SNP	0.021	A
UBR4	23352	genome.wustl.edu	37	1	19487548	19487548	+	Missense_Mutation	SNP	G	G	A	rs369538801		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:19487548G>A	ENST00000375254.3	-	38	5296	c.5269C>T	c.(5269-5271)Cgt>Tgt	p.R1757C	UBR4_ENST00000375267.2_Missense_Mutation_p.R1757C|UBR4_ENST00000375217.2_Missense_Mutation_p.R1757C|UBR4_ENST00000375226.2_Missense_Mutation_p.R1757C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1757					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1757C(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGGCATGACGCACTAGACTC	0.537																																																	1	Substitution - Missense(1)	pancreas(1)						G	CYS/ARG	0,4406		0,0,2203	97.0	82.0	87.0		5269	5.0	1.0	1		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	UBR4	NM_020765.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1757/5184	19487548	1,13005	2203	4300	6503	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5269C>T	1.37:g.19487548G>A	ENSP00000364403:p.Arg1757Cys		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R1757C	ENST00000375254.3	37	c.5269	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631530	0.87660	0.0	1.16E-4	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.25912	1.79;1.79;1.78;1.77	5.93	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.39099	-0.9630	10	0.72032	D	0.01	.	16.2685	0.82603	0.0:0.0:0.8665:0.1335	.	1757	Q5T4S7	UBR4_HUMAN	C	1757;1757;1757;1757;467;973	ENSP00000364403:R1757C;ENSP00000364416:R1757C;ENSP00000364365:R1757C;ENSP00000364374:R1757C	ENSP00000364365:R1757C	R	-	1	0	UBR4	19360135	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.295000	0.72744	1.463000	0.47967	0.655000	0.94253	CGT	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1		0.00	33	0	G	NM_020765		19487548	-1			no_errors	ENST00000375267	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A
ULK3	25989	genome.wustl.edu	37	15	75132906	75132906	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr15:75132906delG	ENST00000440863.2	-	5	637	c.546delC	c.(544-546)cccfs	p.P182fs	ULK3_ENST00000569437.1_Frame_Shift_Del_p.P182fs|ULK3_ENST00000568667.1_Frame_Shift_Del_p.P193fs	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						ACACCATCTCGGGGGCCATGT	0.607																																																	0													20.0	22.0	21.0					15																	75132906		2022	4156	6178	SO:0001589	frameshift_variant	0			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.546delC	15.37:g.75132906delG	ENSP00000400312:p.Pro182fs		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_dom	p.E183fs	ENST00000440863.2	37	c.546	CCDS45305.1	15																																																																																			ULK3	-	pfam_Prot_kinase_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_dom	ENSG00000140474		0.607	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ULK3	HGNC	protein_coding	OTTHUMT00000421734.4		0.00	18	0	G	NM_015518		75132906	-1	tier1		no_errors	ENST00000440863	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	0.002	-
UNC79	57578	genome.wustl.edu	37	14	94155164	94155164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr14:94155164delC	ENST00000393151.2	+	45	7180	c.7180delC	c.(7180-7182)cccfs	p.P2395fs	UNC79_ENST00000555664.1_Frame_Shift_Del_p.P2356fs|UNC79_ENST00000553484.1_Frame_Shift_Del_p.P2417fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.P2218fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2395					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTTTATCATCCCCCCTCTGC	0.537																																																	0													107.0	94.0	98.0					14																	94155164		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7180delC	14.37:g.94155164delC	ENSP00000376858:p.Pro2395fs		B5MDL6|Q6ZUT7	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.S2418fs	ENST00000393151.2	37	c.7246		14																																																																																			UNC79	-	NULL	ENSG00000133958		0.537	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1		0.00	26	0	C	XM_028395		94155164	+1	tier1		no_errors	ENST00000553484	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	1.000	-
UTY	7404	genome.wustl.edu	37	Y	15448217	15448218	+	Splice_Site	INS	-	-	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chrY:15448217_15448218insA	ENST00000331397.4	-	16	2778		c.e16-2		UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000329134.5_Splice_Site|UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000362096.4_Splice_Site	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked						regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						ATGAAGCCCCTAAAAAAAAAAA	0.361													T	2	0.00162206	0.0	0.0029	1233	,	,		21976	0.002		0.0	False		,,,				1233	0.0				Colon(103;1740 2135 40732 45171)												0																																										SO:0001630	splice_region_variant	0			AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.1771-2->T	Y.37:g.15448228_15448228dupA			A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Splice_Site	INS	-	e17-2	ENST00000331397.4	37	c.1906-3_1906-2	CCDS14783.1	Y																																																																																			UTY	-	-	ENSG00000183878		0.361	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UTY	HGNC	protein_coding	OTTHUMT00000088394.1		0.00	13	0	0	NM_182660	Intron	15448218	-1			no_errors	ENST00000382896	ensembl	human	known	74_37	splice_site_ins	25.00	6	2	INS	0.999:0.923	A
VN1R1	57191	genome.wustl.edu	37	19	57967427	57967427	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:57967427T>A	ENST00000321039.3	-	1	427	c.428A>T	c.(427-429)aAt>aTt	p.N143I	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	143					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TTGGAATCCATTGAGAAGGCA	0.433																																																	0													98.0	91.0	93.0					19																	57967427		2203	4300	6503	SO:0001583	missense	0			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.428A>T	19.37:g.57967427T>A	ENSP00000322339:p.Asn143Ile		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.N143I	ENST00000321039.3	37	c.428	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504375	0.44558	.	.	ENSG00000178201	ENST00000321039	T	0.37058	1.22	4.24	-8.47	0.00939	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.45074	0.1324	L	0.40543	1.245	0.09310	N	1	D	0.65815	0.995	D	0.66497	0.944	T	0.65619	-0.6124	9	0.87932	D	0	.	15.9663	0.79974	0.0:0.782:0.0986:0.1194	.	143	Q9GZP7	VN1R1_HUMAN	I	143	ENSP00000322339:N143I	ENSP00000322339:N143I	N	-	2	0	VN1R1	62659239	0.643000	0.27269	0.000000	0.03702	0.006000	0.05464	0.046000	0.14035	-2.620000	0.00440	-0.262000	0.10625	AAT	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000178201		0.433	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	-	0.00	33	0	T	NM_020633		57967427	-1	tier1	-	no_errors	ENST00000321039	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.000	A
VPS13C	54832	genome.wustl.edu	37	15	62147075	62147075	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr15:62147075C>T	ENST00000261517.5	-	84	11228	c.11155G>A	c.(11155-11157)Gca>Aca	p.A3719T	RP11-16B9.1_ENST00000559251.1_RNA|VPS13C_ENST00000249837.3_Missense_Mutation_p.A3676T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTACCTCTGCTGTGGCGGTG	0.373																																																	0													62.0	60.0	61.0					15																	62147075		2203	4300	6503	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.11155G>A	15.37:g.62147075C>T	ENSP00000261517:p.Ala3719Thr			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.A3719T	ENST00000261517.5	37	c.11155	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537223	0.85812	.	.	ENSG00000129003	ENST00000249837;ENST00000261517	T;T	0.51574	0.7;0.7	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.66084	0.896;0.941	T	0.71523	-0.4567	10	0.72032	D	0.01	.	13.9847	0.64326	0.0:1.0:0.0:0.0	.	3676;3719	Q709C8-3;Q709C8	.;VP13C_HUMAN	T	3676;3719	ENSP00000249837:A3676T;ENSP00000261517:A3719T	ENSP00000249837:A3676T	A	-	1	0	VPS13C	59934367	1.000000	0.71417	0.990000	0.47175	0.147000	0.21601	4.060000	0.57477	2.436000	0.82500	0.591000	0.81541	GCA	VPS13C	-	NULL	ENSG00000129003		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	-	0.00	69	0	C	NM_017684		62147075	-1	tier1	-	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.997	T
VWA8	23078	genome.wustl.edu	37	13	42161713	42161713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr13:42161713C>A	ENST00000379310.3	-	42	5274	c.5206G>T	c.(5206-5208)Gag>Tag	p.E1736*		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1736	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ATTGTGCGCTCAAGCCGGCCA	0.512																																																	0													105.0	106.0	106.0					13																	42161713		2080	4210	6290	SO:0001587	stop_gained	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5206G>T	13.37:g.42161713C>A	ENSP00000368612:p.Glu1736*		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Nonsense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.E1736*	ENST00000379310.3	37	c.5206	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	44	10.720033	0.99456	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	.	.	.	5.65	4.79	0.61399	.	0.051840	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	16.9304	0.86189	0.0:0.8719:0.1281:0.0	.	.	.	.	X	1640;1736	.	ENSP00000251030:E1640X	E	-	1	0	KIAA0564	41059713	1.000000	0.71417	0.894000	0.35097	0.188000	0.23474	5.594000	0.67557	1.496000	0.48567	-0.176000	0.13171	GAG	VWA8	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000102763		0.512	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2		0.00	65	0	C	NM_015058		42161713	-1			no_errors	ENST00000379310	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	1.000	A
WNK1	65125	genome.wustl.edu	37	12	970296	970297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr12:970296_970297insA	ENST00000315939.6	+	7	2381_2382	c.1738_1739insA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Frame_Shift_Ins_p.E173fs|WNK1_ENST00000537687.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000535572.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.E580fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGAGGAGCAAGAAAAAAAAAAG	0.47																																					Colon(19;451 567 6672 12618 28860)												1	Unknown(1)	skin(1)																																								SO:0001589	frameshift_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1748dupA	12.37:g.970306_970306dupA	ENSP00000313059:p.Glu580fs		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K584fs	ENST00000315939.6	37	c.1738_1739	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.470	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1		0.00	25	0	-	NM_018979		970297	+1	tier1		no_errors	ENST00000530271	ensembl	human	known	74_37	frame_shift_ins	11.11	24	3	INS	1.000:1.000	A
VWF	7450	genome.wustl.edu	37	12	6153592	6153592	+	Silent	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr12:6153592G>T	ENST00000261405.5	-	18	2561	c.2307C>A	c.(2305-2307)ccC>ccA	p.P769P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	769	Amino-terminal.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGACCATGGGGGGCCGACAGG	0.542																																																	0													63.0	56.0	58.0					12																	6153592		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2307C>A	12.37:g.6153592G>T			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.P769	ENST00000261405.5	37	c.2307	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF	ENSG00000110799		0.542	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0.00	23	0	G	NM_000552		6153592	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	70.37	8	19	SNP	0.994	T
YTHDF3	253943	genome.wustl.edu	37	8	64124416	64124417	+	3'UTR	INS	-	-	A	rs566780343	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr8:64124416_64124417insA	ENST00000517371.1	+	0	2535_2536				YTHDF3_ENST00000539294.1_3'UTR|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			cattcctttGGAAAAAAAAATC	0.347																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.*2153->A	8.37:g.64124425_64124425dupA			B3KXL4|Q63Z37|Q659A3	RNA	INS	-	NULL	ENST00000517371.1	37	NULL		8																																																																																			YTHDF3	-	-	ENSG00000185728		0.347	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	HGNC	protein_coding	OTTHUMT00000378466.4		0.00	31	0	-	NM_152758		64124417	+1	tier1		no_errors	ENST00000521674	ensembl	human	known	74_37	rna	14.89	40	7	INS	0.016:0.010	A
ZBTB14	7541	genome.wustl.edu	37	18	5291775	5291775	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr18:5291775A>C	ENST00000357006.4	-	4	770	c.432T>G	c.(430-432)taT>taG	p.Y144*	ZBTB14_ENST00000400143.3_Nonsense_Mutation_p.Y144*	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	144					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										TTTTAAGGCAATACTTACTTT	0.453																																																	0													136.0	136.0	136.0					18																	5291775		2203	4300	6503	SO:0001587	stop_gained	0			D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.432T>G	18.37:g.5291775A>C	ENSP00000349503:p.Tyr144*		O00403|Q2TB80	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Y144*	ENST00000357006.4	37	c.432	CCDS11837.1	18	.	.	.	.	.	.	.	.	.	.	A	35	5.421148	0.96111	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	.	.	.	6.07	-3.13	0.05266	.	0.180079	0.38164	N	0.001790	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-27.3331	15.6541	0.77121	0.2818:0.0:0.7182:0.0	.	.	.	.	X	144	.	ENSP00000349503:Y144X	Y	-	3	2	ZFP161	5281775	0.983000	0.35010	0.977000	0.42913	0.947000	0.59692	0.155000	0.16362	-0.558000	0.06118	-0.274000	0.10170	TAT	ZBTB14	-	NULL	ENSG00000198081		0.453	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB14	HGNC	protein_coding	OTTHUMT00000254425.1	-	0.00	21	0	A	NM_003409		5291775	-1	tier1	-	no_errors	ENST00000357006	ensembl	human	known	74_37	nonsense	20.00	24	6	SNP	0.993	C
ZBTB7A	51341	genome.wustl.edu	37	19	4054661	4054661	+	Silent	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:4054661C>T	ENST00000322357.4	-	2	848	c.570G>A	c.(568-570)gcG>gcA	p.A190A	ZBTB7A_ENST00000601588.1_Silent_p.A190A	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	190	Ala-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATCGGACGCCCCAAAGG	0.701																																																	0													9.0	11.0	11.0					19																	4054661		2155	4209	6364	SO:0001819	synonymous_variant	0			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.570G>A	19.37:g.4054661C>T			D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A190	ENST00000322357.4	37	c.570	CCDS12119.1	19																																																																																			ZBTB7A	-	NULL	ENSG00000178951		0.701	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	HGNC	protein_coding	OTTHUMT00000457621.2	-	0.00	169	0	C	NM_015898		4054661	-1	tier1	-	no_errors	ENST00000322357	ensembl	human	known	74_37	silent	40.20	61	41	SNP	0.000	T
ZNF439	90594	genome.wustl.edu	37	19	11979137	11979137	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:11979137C>T	ENST00000304030.2	+	3	1453	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.A282V	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TGTGGGAAAGCCTTCAGATCT	0.453																																																	0													71.0	67.0	68.0					19																	11979137		2203	4300	6503	SO:0001583	missense	0			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1253C>T	19.37:g.11979137C>T	ENSP00000305077:p.Ala418Val		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A418V	ENST00000304030.2	37	c.1253	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	c	7.011	0.556745	0.13436	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.19105	2.17;2.17	0.575	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12475	0.0303	N	0.22421	0.69	0.20563	N	0.999886	B	0.21606	0.058	B	0.28784	0.094	T	0.32402	-0.9908	9	0.48119	T	0.1	.	2.3296	0.04232	0.0:0.4028:0.3368:0.2604	.	418	Q8NDP4	ZN439_HUMAN	V	282;418	ENSP00000395632:A282V;ENSP00000305077:A418V	ENSP00000305077:A418V	A	+	2	0	ZNF439	11840137	0.000000	0.05858	0.023000	0.16930	0.048000	0.14542	-0.798000	0.04565	0.577000	0.29470	0.194000	0.17425	GCC	ZNF439	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171291		0.453	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	-	0.00	60	0	C			11979137	+1	tier1	-	no_errors	ENST00000304030	ensembl	human	known	74_37	missense	7.46	62	5	SNP	0.535	T
ZNF678	339500	genome.wustl.edu	37	1	227842427	227842427	+	Missense_Mutation	SNP	G	G	A	rs557917085		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:227842427G>A	ENST00000343776.5	+	4	821	c.476G>A	c.(475-477)gGc>gAc	p.G159D	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.G214D	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G214V(1)|p.G159V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GACGAATGTGGCAAAGTTTTT	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		20760	0.0		0.001	False		,,,				2504	0.0																2	Substitution - Missense(2)	lung(2)											67.0	78.0	74.0					1																	227842427		2201	4299	6500	SO:0001583	missense	0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.476G>A	1.37:g.227842427G>A	ENSP00000344828:p.Gly159Asp		Q8IVQ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G214D	ENST00000343776.5	37	c.641		1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298443	0.40694	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	T;T;T	0.58358	4.9;4.9;0.34	1.34	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48943	0.1528	N	0.21448	0.665	0.33498	D	0.589606	D	0.59357	0.985	P	0.56823	0.807	T	0.59402	-0.7461	9	0.56958	D	0.05	.	8.5465	0.33424	0.0:0.0:1.0:0.0	.	159	Q5SXM1	ZN678_HUMAN	D	159;214;214	ENSP00000344828:G159D;ENSP00000440403:G214D;ENSP00000394651:G214D	ENSP00000344828:G159D	G	+	2	0	ZNF678	225909050	0.936000	0.31750	0.019000	0.16419	0.018000	0.09664	1.067000	0.30616	0.596000	0.29794	0.603000	0.83216	GGC	ZNF678	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181450		0.333	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2		0.00	13	0	G	NM_178549		227842427	+1			no_errors	ENST00000397097	ensembl	human	known	74_37	missense	21.43	22	6	SNP	0.999	A
ZNF679	168417	genome.wustl.edu	37	7	63726569	63726570	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:63726569_63726570insA	ENST00000421025.1	+	5	827_828	c.558_559insA	c.(559-561)aaafs	p.K187fs	ZNF679_ENST00000255746.4_Frame_Shift_Ins_p.K187fs	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATTTCAAATGTAAAAAATATGG	0.327																																																	0																																										SO:0001589	frameshift_variant	0			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.564dupA	7.37:g.63726575_63726575dupA	ENSP00000416809:p.Lys187fs			Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y188fs	ENST00000421025.1	37	c.558_559	CCDS47592.1	7																																																																																			ZNF679	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197123		0.327	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	HGNC	protein_coding	OTTHUMT00000344317.2		0.00	80	0	-	NM_153363		63726570	+1	tier1		no_errors	ENST00000255746	ensembl	human	known	74_37	frame_shift_ins	27.54	50	19	INS	0.332:0.014	A
ZNF732	654254	genome.wustl.edu	37	4	265855	265855	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:265855G>T	ENST00000419098.1	-	4	801	c.791C>A	c.(790-792)aCc>aAc	p.T264N		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						CTTAGTAAGGGTTGAGGACCT	0.363																																																	0													58.0	50.0	53.0					4																	265855		692	1591	2283	SO:0001583	missense	0			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.791C>A	4.37:g.265855G>T	ENSP00000415774:p.Thr264Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T264N	ENST00000419098.1	37	c.791	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.079255	0.00375	.	.	ENSG00000186777	ENST00000419098	T	0.14391	2.51	0.937	0.937	0.19494	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03434	0.0099	N	0.00879	-1.12	0.09310	N	1	B	0.27068	0.167	B	0.27608	0.081	T	0.44544	-0.9321	9	0.17369	T	0.5	.	4.8373	0.13471	0.0:0.3974:0.6026:0.0	.	264	B4DXR9	ZN732_HUMAN	N	264	ENSP00000415774:T264N	ENSP00000415774:T264N	T	-	2	0	ZNF732	255855	0.000000	0.05858	0.037000	0.18230	0.034000	0.12701	-2.572000	0.00912	0.392000	0.25172	0.393000	0.25936	ACC	ZNF732	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186777		0.363	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	-	0.00	30	0	G	NM_001137608		265855	-1	tier1	-	no_errors	ENST00000419098	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.001	T
ZNF99	7652	genome.wustl.edu	37	19	22939048	22939048	+	IGR	SNP	G	G	T			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:22939048G>T	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.L1025I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTAGTAAGGGCTGAAAGA	0.353																																																	0													50.0	70.0	64.0					19																	22939048		1992	4265	6257	SO:0001628	intergenic_variant	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939048G>T			M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L1025I	ENST00000596209.1	37	c.3073	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	10.41	1.343550	0.24339	.	.	ENSG00000213973	ENST00000397104	T	0.74947	-0.89	1.04	-0.883	0.10600	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79281	0.4419	.	.	.	0.09310	N	1	D	0.55172	0.97	D	0.63283	0.913	T	0.67217	-0.5726	8	0.72032	D	0.01	.	4.9312	0.13917	0.3923:0.0:0.6077:0.0	.	1024	A8MXY4	ZNF99_HUMAN	I	1025	ENSP00000380293:L1025I	ENSP00000380293:L1025I	L	-	1	0	ZNF99	22730888	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.565000	0.05929	-0.439000	0.07222	-0.606000	0.04082	CTT	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1		0.00	29	0	G	XM_065124		22939048	-1			no_errors	ENST00000397104	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.021	T
ZNHIT1	10467	genome.wustl.edu	37	7	100867224	100867224	+	Silent	SNP	G	G	A			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:100867224G>A	ENST00000305105.2	+	5	978	c.450G>A	c.(448-450)ctG>ctA	p.L150L	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	150					negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GCAGGTGTCTGAAGTGGACTG	0.602																																																	0													120.0	92.0	102.0					7																	100867224		2203	4300	6503	SO:0001819	synonymous_variant	0			AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"""Zinc fingers, HIT-type"""	21688	protein-coding gene	gene with protein product	"""putative cyclin G1 interacting protein"""		"""zinc finger protein, subfamily 4A (HIT domain containing), member 1"", ""zinc finger, HIT domain containing 1"""	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.450G>A	7.37:g.100867224G>A			Q6IB12	Silent	SNP	pfam_Znf_HIT,pfscan_Znf_HIT	p.L150	ENST00000305105.2	37	c.450	CCDS5716.1	7																																																																																			ZNHIT1	-	NULL	ENSG00000106400		0.602	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT1	HGNC	protein_coding	OTTHUMT00000347488.1	-	0.00	32	0	G	NM_006349		100867224	+1	tier1	-	no_errors	ENST00000305105	ensembl	human	known	74_37	silent	27.27	24	9	SNP	1.000	A
